Lincoln Repository

Items where Subject is "C431 Medical Genetics"

JACS Subject (73)
- C Biological Sciences (73)
  - C431 Medical Genetics (73)

Group by: Creators | Keywords | Item Type

11beta hydroxysteroid dehydrogenase 2 5-HTT ACTG1 ALK1 ALS4 AOS Adams-Oliver syndrome Amyotrophic lateral sclerosis Array CGH Artificial miRNA Ataxia Autoantibodies Autoimmune Disease Autoimmune Diseases Autoimmune Thyroid Disease Autoimmune thyroid disease Autoimmunity Autoreactivity B cells BMPR2 Birthweight Blood Pressure Bmjconvert Breast cancer Bronchitis, Chronic CARDASIL COVID-19 Cancer Case-Control Studies Caucasian Causality Caveolin Cell biology Cerebral small vessel diseases Chi-Square Distribution Chromosomes, Human, Pair 5 Clinical Trials Coagulation Colorectal Cancer Common disease Complex disease Coronavirus CpG island DNA methylation Disease Endocrinology Europe European Continental Ancestry Group Exosomes FRMD7 Female preponderance Fibrillarin Finland GWAS Gene Frequency Gene expression Gene identification Gene mutation Gene regulation Gene targeting Gene therapy Genes Genetic Markers Genetic Predisposition to Disease Genetic Variation Genetic association studies Genetic epidemiology Genetics Genetics research Genome Wide Association Study Genome-wide association studies Genome-wide association study Genomic Graves Ophthalmopathy Graves disease Graves' disease Great Britain HLA Class I HLA-A HLA-B HSD11B2 gene Haploinsufficiency Hashimoto's Thyroiditis Helicase Hereditary haemorrhagic telangiectasia Humans Hypertension IL10 protein, human IL1A protein, human IL1B protein, human IL1RN protein, human IL6 protein, human Idiopathic congenital nystagmus Imaging Infectious disease Interleukin 1 Receptor Antagonist Protein Interleukin-10 Interleukin-1alpha Interleukin-1beta Interleukin-3 Interleukin-6 Interleukins JCOpen Kidney Kidney Failure, Chronic Kidney transplant Lacunar stroke Large artery stroke Leukoaraiosis Life course Linkage (Genetics) MHC Class I Maternal smoking Mediation Motor neuron Multiple Sclerosis Mutation Mutation review Neurodegeneration Neurology Neuroscience NotOAChecked Nucleocytoplasmic transport Nucleolus Odds Ratio PAH Pancreas Transplantation Persistence Phenotype Physical mapping Polymorphism, Single Nucleotide Pregnancy Protein Tyrosine Phosphatase, Non-Receptor Type 12 Protein type II receptor Pulmonary Disease, Chronic Obstructive Pulmonary Emphysema Pulmonary Surfactant-Associated Protein B Pulmonary arterial hypertension Pulmonary hypertension Ran RanGAP1 Receptors, Thyrotropin Review Rho GTPases SERPINA1 protein, human SNP Seizures Senataxin Stroke TDP-43 Transcription Transgenesis Transplantation Tumor Necrosis Factor-alpha Type 1 diabetes United Kingdom, Asian Continental Ancestry Group Uteroglobin Variation Vital Capacity Vitamin D-Binding Protein World Symposium X chromosome alpha 1 antitrypsin alpha 1 antitrypsin deficiency alpha 1-Antitrypsin alpha 1-Antitrypsin Deficiency amniocentesis ankylosing spondylitis arterial stiffness article blood cardiovascular disease case control study caveolin-1 chromosome 5q chronic bronchitis chronic kidney disease chronic kidney failure chronic obstructive lung disease cohort analysis controlled study copy number variants data base disease association disease severity endocrine ophthalmopathy epigenetics ethnology eukoaraiosis eye development female fetus development forced expiratory volume gene gene expression gene expression regulation gene replication genetic linkage genetic polymorphism genetic predisposition genetic variability genetics genotype glucocorticoid graves disease human interleukin 1 receptor blocking agent interleukin 10 interleukin 1alpha interleukin 1beta interleukin 3, article interleukin 6 interleukin derivative, adult intrauterine growth retardation ischemic stroke low birth weight lung emphysema major clinical study male messenger RNA metabolic disorder metabolism middle aged neurologic disease non-synonymous SNPs nonhuman nucleotide sequence ocular coloboma pathophysiology phenotype pregnancy outcome premature labor prenatal exposure prenatal stress priority journal promoter region protein interaction protein microarray protein subunit protein tyrosine phosphatase proteomics pulse wave velocity qPCR rat review risk assessment single nucleotide polymorphism single nucleotide polymorphism, Adult single-nucleotide polymorphism statistics, Case-Control Studies stroke surfactant protein B thyrotropin receptor antibody, allele tissue fusion transforming growth factor beta tumor necrosis factor alpha, adrenal cortex atrophy tumor necrosis factor alpha, adult vital capacity, alpha 1-Antitrypsin Deficiency vitamin D binding protein, alpha 1 antitrypsin deficiency

Number of items at this level: 401.

11beta hydroxysteroid dehydrogenase 2

Togher, K. L., O'Keeffe, M. M., Khashan, A. S., Gutierrez, Humberto, Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

5-HTT

Machado, Rajiv D., Koehler, Rolf, Glissmeyer, Eric, Veal, Colin, Suntharalingam, Jay, Kim, Miryoung, Carlquist, John, Town, Margaret, Elliott, C. Gregory, Hoeper, Marius, Fijalkowska, Anna, Kurzyna, Marcin, Thomson, Jennifer R., Gibbs, Simon R., Wilkins, Martin R., Seeger, Werner, Morrell, Nicholas W., Gruenig, Ekkehard, Trembath, Richard C. and Janssen, Bart (2006) Genetic association of the serotonin transporter in pulmonary arterial hypertension. American journal of respiratory and critical care medicine, 173 (7). pp. 793-797. ISSN 1535-4970

ACTG1

Rainger, Joe, Williamson, Kathleen A., Soares, Dinesh C., Truch, Julia, Kurian, Dominic, Gillessen-Kaesbach, Gabriele, Seawright, Anne, Prendergast, James, Halachev, Mihail, Wheeler, Ann, McTeir, Lynn, Gill, Andrew C., van Heyningen, Veronica, Davey, Megan G. and FitzPatrick, David R. (2017) A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. Human Mutation, 38 (8). pp. 942-946. ISSN 1059-7794

ALK1

Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, I. M., Olschewski, H., McLaughlin, V., Gruenig, E., Kermeen, F., Halme, M., Räisänen-Sokolowski, A., Laitinen, T., Morrell, N. W. and Trembath, R. C. (2003) Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. Journal of medical genetics, 40 (12). pp. 865-71. ISSN 0022-2593

Trembath, R. C., Thomson, J. R., Machado, Rajiv D., Morgan, N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, N., Loyd, J. E., Humbert, M., Nichols, W .C., Morrell, N. W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M. and Wheeler, L. (2001) Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. The New England Journal of Medicine, 345 (5). pp. 325-334. ISSN 0028-4793

ALS4

Bennett, Craig L., Sopher, Bryce L. and La Spada, Albert R. (2020) Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly. Heliyon, 6 (6). e04165. ISSN 2405-8440

AOS

Karountzos, Anastasios (2019) The Roles of JAB1 and NOTCH1 in the Development of Cardiovascular Disease. PhD thesis, University of Lincoln.

Adams-Oliver syndrome

Southgate, Laura, Machado, Rajiv D., Snape, Katie M, Primeau, Martin, Dafou, Dimitra, Ruddy, Deborah M, Branney, Peter A, Fisher, Malcolm, Lee, Grace J., Simpson, Michael A., He, Yi, Bradshaw, Teisha Y., Blaumeiser, Bettina, Winship, William S., Reardon, Willie, Maher, Eamonn R., FitzPatrick, David R., Wuyts, Wim, Zenker, Martin, Lamarche-Vane, Nathalie and Trembath, Richard C. (2011) Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. American Journal of Human Genetics, 88 (5). pp. 574-85. ISSN 0002-9297

Amyotrophic lateral sclerosis

Bennett, Craig L., Dastidar, Somasish G., Ling, Shuo-Chien, Malik, Bilal, Ashe, Travis, Wadhwa, Mandheer, Miller, Derek B., Lee, Changwoo, Mitchell, Matthew B., van Es, Michael A., Grunseich, Christopher, Chen, Yingzhang, Sopher, Bryce L., Greensmith, Linda, Cleveland, Don W. and La Spada, Albert R. (2018) Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathologica, 136 (3). pp. 425-443. ISSN 0001-6322

Array CGH

Davison, Eleanor J., Fiegler, Heike, Rowan, Andrew, Halford, Sarah, Bicknell, David C., Bodmer, Walter, Tomlinson, Ian P. M. and Carter, Nigel P. (2004) Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas. Cancer Research, 64 (14). pp. 4817-4825. ISSN 0008-5472

Gaasenbeek, Michelle, Howarth, Kimberley, Rowan, Andrew J., Gorman, Patricia A., Jones, Angela, Chaplin, Tracy, Liu, Ying, Bicknell, David, Davison, Eleanor J., Fiegler, Heike, Carter, Nigel P., Roylance, Rebecca R. and Tomlinson, Ian P. M. (2006) Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers. Cancer Research, 66 (7). pp. 3471-3479. ISSN 0008-5472

Jones, Angela M., Davison, Eleanor J., Halford, Sarah E. R., Fiegler, Heike, Gorman, Patricia A., Roylance, Rebecca R., Carter, Nigel P. and Tomlinson, Ian P. M. (2005) Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinoma. Oncogene, 24 (1). pp. 118-129. ISSN 0950-9232

Rowan, Andrew, Halford, Sarah, Gaasenbeek, Michelle, Kemp, Zoe, Sieber, Oliver, Volikos, Emmanouil, Davison, Eleanor, Fiegler, Heike, Carter, Nigel, Talbot, Ian, Silver, Andrew and Tomlinson, Ian (2005) Refining molecular analysis in the pathways of colorectal carcinogenesis. Clinical Gastroenterology and Hepatology, 3 (11). pp. 1115-1123. ISSN 1542-3565

Artificial miRNA

Vadivalagan, Chithravel, Shitut, Anushka, Kamalakannan, Siva, Chen, Ruei-Ming, Serrano-Aroca, Ángel, Mishra, Vijay, Aljabali, Alaa A A, Singh, Sachin Kumar, Chellappan, Dinesh Kumar, Gupta, Gaurav, Dua, Kamal, El-Tanani, Mohamed, Tambuwala, Murtaza and Krishnan, Anand (2022) Exosomal mediated signal transduction through artificial microRNA (amiRNA): A potential target for inhibition of SARS-CoV-2. Cellular Signalling, 95 . p. 110334. ISSN 0898-6568

Ataxia

Autoantibodies

Simmonds, Matthew J. (2011) Evaluating the role of B cells in autoimmune disease: more than just initiators of disease? In: Advances in Medicine and Biology. Nova Science Publishers, pp. 151-176. ISBN 9781613243596

Autoimmune Disease

Autoimmune Diseases

Hamilton, A., Newby, P. R., Carr-Smith, J. D., Disanto, G., Allahabadia, A., Armitage, M., Brix, T. H., Taylor, J.C., Vaidya, B., Wass, J. A., Wiersinga, W. M., Weetman, A. P., Ramagopalan, S. V., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2014) Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe. Journal of Clinical Endocrinology and Metabolism, 99 (8). ISSN 0021-972X

Simmonds, M. J., Kavvoura, F. K., Brand, O. J., Newby, P. R., Jackson, L. E., Hargreaves, C. E., Franklyn, J. A. and Gough, S. C. L. (2014) Skewed X chromosome inactivation and female preponderance in autoimmune thyroid disease: an association study and meta-analysis. The Journal of Clinical Endocrinology & Metabolism, 99 (1). E127-E131. ISSN 0021-972X

Autoimmune Thyroid Disease

Autoimmune thyroid disease

Burton, Paul R, Clayton, David G, Cardon, Lon R, Craddock, Nick, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P, McCarthy, Mark I, Ouwehand, Willem H, Samani, Nilesh J, Todd, John A, Donnelly (Chair), Peter, Barrett, Jeffrey C, Burton, Paul R, Davison, Dan, Donnelly, Peter, Easton, Doug, Evans, David M, Leung, Hin-Tak, Marchini, Jonathan L, Morris, Andrew P, Spencer, Chris CA, Tobin, Martin D, Cardon, Lon R, Clayton, David G, Attwood, Antony P, Boorman, James P, Cant, Barbara, Everson, Ursula, Hussey, Judith M, Jolley, Jennifer D, Knight, Alexandra S, Koch, Kerstin, Meech, Elizabeth, Nutland, Sarah, Prowse, Christopher V, Stevens, Helen E, Taylor, Niall C, Walters, Graham R, Walker, Neil M, Watkins, Nicholas A, Winzer, Thilo, Todd, John A, Ouwehand, Willem H, Jones, Richard W, McArdle, Wendy L, Ring, Susan M, Strachan, David P, Pembrey, Marcus, Breen, Gerome, Clair, David St, Caesar, Sian, Gordon-Smith, Katharine, Jones, Lisa, Fraser, Christine, Green, Elaine K, Grozeva, Detelina, Hamshere, Marian L, Holmans, Peter A, Jones, Ian R, Kirov, George, Moskivina, Valentina, Nikolov, Ivan, O'Donovan, Michael C, Owen, Michael J, Craddock, Nick, Collier, David A, Elkin, Amanda, Farmer, Anne, Williamson, Richard, McGuffin, Peter, Young, Allan H, Ferrier, I Nicol, Ball, Stephen G, Balmforth, Anthony J, Barrett, Jennifer H, Bishop, Timothy D, Iles, Mark M, Maqbool, Azhar, Yuldasheva, Nadira, Hall, Alistair S, Braund, Peter S, Burton, Paul R, Dixon, Richard J, Mangino, Massimo, Stevens, Suzanne, Tobin, Martin D, Thompson, John R, Samani, Nilesh J, Bredin, Francesca, Tremelling, Mark, Parkes, Miles, Drummond, Hazel, Lees, Charles W, Nimmo, Elaine R, Satsangi, Jack, Fisher, Sheila A, Forbes, Alastair, Lewis, Cathryn M, Onnie, Clive M, Prescott, Natalie J, Sanderson, Jeremy, Matthew, Christopher G, Barbour, Jamie, Mohiuddin, M Khalid, Todhunter, Catherine E, Mansfield, John C, Ahmad, Tariq, Cummings, Fraser R, Jewell, Derek P, Webster, John, Brown, Morris J, Clayton, David G, Lathrop, Mark G, Connell, John, Dominiczak, Anna, Samani, Nilesh J, Marcano, Carolina A Braga, Burke, Beverley, Dobson, Richard, Gungadoo, Johannie, Lee, Kate L, Munroe, Patricia B, Newhouse, Stephen J, Onipinla, Abiodun, Wallace, Chris, Xue, Mingzhan, Caulfield, Mark, Farrall, Martin, Barton, Anne, Bruce, Ian N, Donovan, Hannah, Eyre, Steve, Gilbert, Paul D, Hilder, Samantha L, Hinks, Anne M, John, Sally L, Potter, Catherine, Silman, Alan J, Symmons, Deborah PM, Thomson, Wendy, Worthington, Jane, Clayton, David G, Dunger, David B, Nutland, Sarah, Stevens, Helen E, Walker, Neil M, Widmer, Barry, Todd, John A, Frayling, Timothy M, Freathy, Rachel M, Lango, Hana, Perry, John R B, Shields, Beverley M, Weedon, Michael N, Hattersley, Andrew T, Hitman, Graham A, Walker, Mark, Elliott, Kate S, Groves, Christopher J, Lindgren, Cecilia M, Rayner, Nigel W, Timpson, Nicolas J, Zeggini, Eleftheria, McCarthy, Mark I, Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Vannberg, Fredrik, Hill, Adrian V S, Bradbury, Linda A, Farrar, Claire, Pointon, Jennifer J, Wordsworth, Paul, Brown, Matthew A, Franklyn, Jayne A, Heward, Joanne M, Simmonds, Matthew J, Gough, Stephen CL, Seal, Sheila, Stratton, Michael R, Rahman, Nazneen, Ban, Maria, Goris, An, Sawcer, Stephen J, Compston, Alastair, Conway, David, Jallow, Muminatou, Newport, Melanie, Sirugo, Giorgio, Rockett, Kirk A, Kwiatkowski, Dominic P, Bumpstead, Suzannah J, Chaney, Amy, Downes, Kate, Ghori, Mohammed JR, Gwilliam, Rhian, Hunt, Sarah E, Inouye, Michael, Keniry, Andrew, King, Emma, McGinnis, Ralph, Potter, Simon, Ravindrarajah, Rathi, Whittaker, Pamela, Widden, Claire, Withers, David, Deloukas, Panos, Leung, Hin-Tak, Nutland, Sarah, Stevens, Helen E, Walker, Neil M, Todd, John A, Easton, Doug, Clayton, David G, Burton, Paul R, Tobin, Martin D, Barrett, Jeffrey C, Evans, David M, Morris, Andrew P, Cardon, Lon R, Cardin, Niall J, Davison, Dan, Ferreira, Teresa, Pereira-Gale, Joanne, Hallgrimsdóttir, Ingeleif B, Howie, Bryan N, Marchini, Jonathan L, Spencer, Chris CA, Su, Zhan, Teo, Yik Ying, Vukcevic, Damjan, Donnelly, Peter, Bentley, David, Brown, Matthew A, Cardon, Lon R, Caulfield, Mark, Clayton, David G, Compston, Alastair, Craddock, Nick, Deloukas, Panos, Donnelly, Peter, Farrall, Martin, Gough, Stephen CL, Hall, Alistair S, Hattersley, Andrew T, Hill, Adrian V S, Kwiatkowski, Dominic P, Matthew, Christopher G, McCarthy, Mark I, Ouwehand, Willem H, Parkes, Miles, Pembrey, Marcus, Rahman, Nazneen, Samani, Nilesh J, Stratton, Michael R, Todd, John A, Worthington, Jane, Mitchell, Sarah L, Newby, Paul R, Brand, Oliver J, Carr-Smith, Jackie, Pearce, Simon H S, Gough, Stephen C L, McGinnis, R, Keniry, A, Deloukas, P, Reveille, John D, Zhou, Xiaodong, Bradbury, Linda A, Sims, Anne-Marie, Dowling, Alison, Taylor, Jacqueline, Doan, Tracy, Cardon, Lon R, Davis, John C, Pointon, Jennifer J, Savage, Laurie, Ward, Michael M, Learch, Thomas L, Weisman, Michael H, Wordsworth, Paul and Brown, Matthew A (2007) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nature Genetics, 39 (11). pp. 1329-1337. ISSN 1061-4036

Autoimmunity

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) Endocrine autoimmunity. In: Oxford Textbook of Endocrinology and Diabetes (Second edition). Oxford Textbook series . Oxford University Press, Oxford, pp. 34-44. ISBN 9780199235292

Autoreactivity

B cells

BMPR2

Aldred, Micheala A, Machado, Rajiv D., James, Victoria, Morrell, Nicholas W. and Trembath, Richard C. (2007) Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension. American Journal of Respiratory and Critical Care Medicine, 176 (8). pp. 819-24. ISSN 1073-449X

Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. R., Phillips, J. A., Loyd, J. E., Nichols, W. C. and Trembath, R. C. (2000) Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nature Genetics, 26 (1). pp. 81-84. ISSN 1061-4036

Machado, Rajiv D., Aldred, Micheala A., James, Victoria, Harrison, Rachel E., Patel, Bhakti, Schwalbe, Edward C., Gruenig, Ekkehard, Janssen, Bart, Koehler, Rolf, Seeger, Werner, Eickelberg, Oliver, Olschewski, Horst, Elliott, C. Gregory, Glissmeyer, Eric, Carlquist, John, Kim, Miryoung, Torbicki, Adam, Fijalkowska, Anna, Szewczyk, Grzegorz, Parma, Jasmine, Abramowicz, Marc J., Galie, Nazzareno, Morisaki, Hiroko, Kyotani, Shingo, Nakanishi, Norifumi, Morisaki, Takayuki, Humbert, Marc, Simonneau, Gerald, Sitbon, Olivier, Soubrier, Florent, Coulet, Florence, Morrell, Nicholas W. and Trembath, Richard C. (2006) Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Human Mutation, 27 (2). pp. 121-132. ISSN 1059-7794

Machado, Rajiv D., James, Victoria, Southwood, Mark, Harrison, Rachel E., Atkinson, Carl, Stewart, Susan, Morrell, Nicholas W., Trembath, Richard C. and Aldred, Micheala A. (2005) Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension. Circulation, 111 (5). pp. 607-613. ISSN 0009-7322

Machado, Rajiv D., Pauciulo, M. W., Thomson, J. R., Lane, K. B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, J., Williams, D., Galiè, N., Manes, A., McNeil, K., Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. E., Trembath, R. C. and Nichols, W. C. (2001) BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. American Journal of Human Genetics, 68 (1). pp. 92-102. ISSN 0002-9297

Sankelo, Marja, Flanagan, Julia A., Machado, Rajiv, Harrison, Rachel, Rudarakanchana, Nung, Morrell, Nicholas, Dixon, Morag, Halme, Maija, Puolijoki, Hannu, Kere, Juha, Elomaa, Outi, Kupari, Markku, Räisänen-Sokolowski, Anne, Trembath, Richard C. and Laitinen, Tarja (2005) BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. Human Mutation, 26 (2). pp. 119-24. ISSN 1059-7794

Soon, Elaine, Holmes, Alan M., Treacy, Carmen M., Doughty, Natalie J., Southgate, Laura, Machado, Rajiv D., Trembath, Richard C., Jennings, Simon, Barker, Lucy, Nicklin, Paul, Walker, Christoph, Budd, David C., Pepke-Zaba, Joanna and Morrell, Nicholas W. (2010) Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension. Circulation, 122 (9). pp. 920-927. ISSN 0009-7322

Soubrier, Florent, Chung, Wendy K., Machado, Rajiv, Grunig, Ekkehard, Aldred, Michaela, Geraci, Mark, Loyd, James E., Elliott, C. Gregory, Trembath, Richard C., Newman, John H. and Humbert, Marc (2013) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 62 (25 SUP). D13-D21. ISSN 0735-1097

Suntharalingam, Jay, Machado, Rajiv D., Sharples, Linda D., Toshner, Mark R., Sheares, Karen K., Hughes, Rodney J., Jenkins, David P., Trembath, Richard C., Morrell, Nicholas W. and Pepke-Zaba, Joanna (2007) Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertension. Thorax, 62 (7). pp. 617-622. ISSN 0040-6376

Thomson, J. R., Machado, Rajiv D., Pauciulo, M. W., Morgan, N .V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., Mikhail, G., Rogers, P., Newman, J., Wheeler, L., Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., Peacock, A., Allcock, R., Corris, P., Loyd, J. E., Trembath, R. C. and Nichols, W. C. (2000) Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. Journal of Medical Genetics, 37 (10). pp. 741-745. ISSN 0022-2593

Birthweight

Wang, Guoying, Ali Khan, Anokhi, Rodriguez, Alina, Sebert, Sylvain, Kaakinen, Marika, Cauchi, Stéphane, Froguel, Philippe, Hartikainen, Anna-Liisa, Pouta, Anneli and Järvelin, Marjo-Riitta (2012) The interplay of variants near LEKR and CCNL1 and social stress in relation to birth size. PLoS ONE, 7 (6). e38216. ISSN 1932-6203

Blood Pressure

Ehret, Georg B, Ferreira, Teresa, Chasman, Daniel I, Jackson, Anne U, Schmidt, Ellen M, Johnson, Toby, Thorleifsson, Gudmar, Luan, Jian'an, Donnelly, Louise A, Kanoni, Stavroula, Petersen, Ann-Kristin, Pihur, Vasyl, Strawbridge, Rona J, Shungin, Dmitry, Hughes, Maria F, Meirelles, Osorio, Kaakinen, Marika, Bouatia-Naji, Nabila, Kristiansson, Kati, Shah, Sonia, Kleber, Marcus E, Guo, Xiuqing, Lyytikäinen, Leo-Pekka, Fava, Cristiano, Eriksson, Niclas, Nolte, Ilja M, Magnusson, Patrik K, Salfati, Elias L, Rallidis, Loukianos S, Theusch, Elizabeth, Smith, Andrew J P, Folkersen, Lasse, Witkowska, Kate, Pers, Tune H, Joehanes, Roby, Kim, Stuart K, Lataniotis, Lazaros, Jansen, Rick, Johnson, Andrew D, Warren, Helen, Kim, Young Jin, Zhao, Wei, Wu, Ying, Tayo, Bamidele O, Bochud, Murielle, Absher, Devin, Adair, Linda S, Amin, Najaf, Arking, Dan E, Axelsson, Tomas, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Barnes, Michael R, Barroso, Inês, Bevan, Stephen, Bis, Joshua C, Bjornsdottir, Gyda, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L, Boomsma, Dorret I, Bornstein, Stefan R, Brown, Morris J, Burnier, Michel, Cabrera, Claudia P, Chambers, John C, Chang, I-Shou, Cheng, Ching-Yu, Chines, Peter S, Chung, Ren-Hua, Collins, Francis S, Connell, John M, Döring, Angela, Dallongeville, Jean, Danesh, John, de Faire, Ulf, Delgado, Graciela, Dominiczak, Anna F, Doney, Alex S F, Drenos, Fotios, Edkins, Sarah, Eicher, John D, Elosua, Roberto, Enroth, Stefan, Erdmann, Jeanette, Eriksson, Per, Esko, Tonu, Evangelou, Evangelos, Evans, Alun, Fall, Tove, Farrall, Martin, Felix, Janine F, Ferrières, Jean, Ferrucci, Luigi, Fornage, Myriam, Forrester, Terrence, Franceschini, Nora, Franco, Oscar H, Franco-Cereceda, Anders, Fraser, Ross M, Ganesh, Santhi K, Gao, He, Gertow, Karl, Gianfagna, Francesco, Gigante, Bruna, Giulianini, Franco, Goel, Anuj, Goodall, Alison H, Goodarzi, Mark O, Gorski, Mathias, Gräßler, Jürgen, Groves, Christopher J, Gudnason, Vilmundur, Gyllensten, Ulf, Hallmans, Göran, Hartikainen, Anna-Liisa, Hassinen, Maija, Havulinna, Aki S, Hayward, Caroline, Hercberg, Serge, Herzig, Karl-Heinz, Hicks, Andrew A, Hingorani, Aroon D, Hirschhorn, Joel N, Hofman, Albert, Holmen, Jostein, Holmen, Oddgeir Lingaas, Hottenga, Jouke-Jan, Howard, Phil, Hsiung, Chao A, Hunt, Steven C, Ikram, M Arfan, Illig, Thomas, Iribarren, Carlos, Jensen, Richard A, Kähönen, Mika, Kang, Hyun Min, Kathiresan, Sekar, Keating, Brendan J, Khaw, Kay-Tee, Kim, Yun Kyoung, Kim, Eric, Kivimaki, Mika, Klopp, Norman, Kolovou, Genovefa, Komulainen, Pirjo, Kooner, Jaspal S, Kosova, Gulum, Krauss, Ronald M, Kuh, Diana, Kutalik, Zoltan, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Lee, Nanette R, Lee, I-Te, Lee, Wen-Jane, Levy, Daniel, Li, Xiaohui, Liang, Kae-Woei, Lin, Honghuang, Lin, Li, Lindström, Jaana, Lobbens, Stéphane, Männistö, Satu, Müller, Gabriele, Müller-Nurasyid, Martina, Mach, François, Markus, Hugh S, Marouli, Eirini, McCarthy, Mark I, McKenzie, Colin A, Meneton, Pierre, Menni, Cristina, Metspalu, Andres, Mijatovic, Vladan, Moilanen, Leena, Montasser, May E, Morris, Andrew D, Morrison, Alanna C, Mulas, Antonella, Nagaraja, Ramaiah, Narisu, Narisu, Nikus, Kjell, O'Donnell, Christopher J, O'Reilly, Paul F, Ong, Ken K, Paccaud, Fred, Palmer, Cameron D, Parsa, Afshin, Pedersen, Nancy L, Penninx, Brenda W, Perola, Markus, Peters, Annette, Poulter, Neil, Pramstaller, Peter P, Psaty, Bruce M, Quertermous, Thomas, Rao, Dabeeru C, Rasheed, Asif, Rayner, N William, Renström, Frida, Rettig, Rainer, Rice, Kenneth M, Roberts, Robert, Rose, Lynda M, Rossouw, Jacques, Samani, Nilesh J, Sanna, Serena, Saramies, Jouko, Schunkert, Heribert, Sebert, Sylvain, Sheu, Wayne H-H, Shin, Young-Ah, Sim, Xueling, Smit, Johannes H, Smith, Albert V, Sosa, Maria X, Spector, Tim D, Stančáková, Alena, Stanton, Alice V, Stirrups, Kathleen E, Stringham, Heather M, Sundstrom, Johan, Swift, Amy J, Syvänen, Ann-Christine, Tai, E-Shyong, Tanaka, Toshiko, Tarasov, Kirill V, Teumer, Alexander, Thorsteinsdottir, Unnur, Tobin, Martin D, Tremoli, Elena, Uitterlinden, Andre G, Uusitupa, Matti, Vaez, Ahmad, Vaidya, Dhananjay, van Duijn, Cornelia M, van Iperen, Erik P A, Vasan, Ramachandran S, Verwoert, Germaine C, Virtamo, Jarmo, Vitart, Veronique, Voight, Benjamin F, Vollenweider, Peter, Wagner, Aline, Wain, Louise V, Wareham, Nicholas J, Watkins, Hugh, Weder, Alan B, Westra, Harm-Jan, Wilks, Rainford, Wilsgaard, Tom, Wilson, James F, Wong, Tien Y, Yang, Tsun-Po, Yao, Jie, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zhu, Xiaofeng, Bovet, Pascal, Cooper, Richard S, Mohlke, Karen L, Saleheen, Danish, Lee, Jong-Young, Elliott, Paul, Gierman, Hinco J, Willer, Cristen J, Franke, Lude, Hovingh, G Kees, Taylor, Kent D, Dedoussis, George, Sever, Peter, Wong, Andrew, Lind, Lars, Assimes, Themistocles L, Njølstad, Inger, Schwarz, Peter E H, Langenberg, Claudia, Snieder, Harold, Caulfield, Mark J, Melander, Olle, Laakso, Markku, Saltevo, Juha, Rauramaa, Rainer, Tuomilehto, Jaakko, Ingelsson, Erik, Lehtimäki, Terho, Hveem, Kristian, Palmas, Walter, März, Winfried, Kumari, Meena, Salomaa, Veikko, Chen, Yii-Der I, Rotter, Jerome I, Froguel, Philippe, Jarvelin, Marjo-Riitta, Lakatta, Edward G, Kuulasmaa, Kari, Franks, Paul W, Hamsten, Anders, Wichmann, H-Erich, Palmer, Colin N A, Stefansson, Kari, Ridker, Paul M, Loos, Ruth J F, Chakravarti, Aravinda, Deloukas, Panos, Morris, Andrew P, Newton-Cheh, Christopher and Munroe, Patricia B (2016) The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nature Genetics, 48 (10). pp. 1171-1184. ISSN 1061-4036

Bmjconvert

Traylor, Matthew, Rutten-Jacobs, Loes C. A., Holliday, Elizabeth G., Malik, Rainer, Sudlow, Cathie, Rothwell, Peter M., Maguire, Jane M., Koblar, Simon A., Bevan, Steve, Boncoraglio, Giorgio, Dichgans, Martin, Levi, Chris, Lewis, Cathryn M. and Markus, Hugh S. (2015) Differences in common genetic predisposition to ischemic stroke by age and sex. Stroke: a journal of cerebral circulation, 46 (11). pp. 3042-7. ISSN 0039-2499

Breast cancer

Bronchitis, Chronic

Wood, Alice M., Simmonds, Matthew J., Bayley, Darren L., Newby, Paul R., Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

CARDASIL

Opherk, C., Gonik, M., Duering, M., Malik, R., Jouvent, E., Herve, D., Adib-Samii, P., Bevan, S., Pianese, L., Silvestri, S., Dotti, M. T., De Stefano, N., Liem, M., Boon, E. M. J., Pescini, F., Pachai, C., Bracoud, L., Muller-Myhsok, B., Meitinger, T., Rost, N., Pantoni, L., Lesnik Oberstein, S., Federico, A., Ragno, M., Markus, H. S., Tournier-Lasserve, E., Rosand, J., Chabriat, H. and Dichgans, M. (2014) Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke, 45 (4). pp. 968-972. ISSN 0039-2499

Rutten-Jacobs, Loes C.A., Traylor, Matthew, Adib-Samii, Poneh, Thijs, Vincent, Sudlow, Cathie, Rothwell, Peter M., Boncoraglio, Giorgio, Dichgans, Martin, Bevan, Steve, Meschia, James, Levi, Christopher, Rost, Natalia S., Rosand, Jonathan, Hassan, Ahamad and Markus, Hugh S. (2015) Common NOTCH3 variants and cerebral small-vessel disease. Stroke, 46 (6). pp. 1482-1487. ISSN 0039-2499

COVID-19

Deroose, CM, Lecouvet, FE, Collette, L, Oprea-Lager, DE, Kunz, WG, Bidaut, Luc, Verhoeff, JJC, Caramella, C, Lopci, E, Tombal, B, de Geus-Oei, L-F, Fournier, L, Smits, M and deSouza, NM (2020) Impact of the COVID-19 crisis on imaging in oncological trials. European Journal of Nuclear Medicine and Molecular Imaging . ISSN 1619-7089

Cancer

Case-Control Studies

Simmonds, Matthew J., Yesmin, Kadja, Newby, Paul R., Brand, Oliver J., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Caucasian

Buckham, T. A., McKnight, A. J., Benevente, D., Courtney, A. E., Patterson, C. C., Simmonds, Matthew J., Gough, S. C. L., Middleton, D., Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Causality

Rodriguez, Alina, Karhunen, Ville, Richmond, Rebecca, Rodriguez, Alina, De Silva, Maneka, Wielscher, Matthias, Rezwan, Faisal, Richardson, Tom, Veijola, Juha, Heinz-Herzig, Karl, Holloway, John, Relton, Caroline, Sebert, Sylvain and Järvelin, Marjo-Riitta (2019) DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Clinical Epigenetics, 11 (1). ISSN 1868-7075

Caveolin

Hamilton, A., Mittal, S., Barnardo, M. C .N. M., Fuggle, S. V., Friend, P., Gough, S. C. L. and Simmonds, M. (2015) Genetic variation in Caveolin-1 correlates with long-term pancreas transplant outcome. American Journal of Transplantation . ISSN 1600-6143

Cell biology

Cerebral small vessel diseases

Chi-Square Distribution

Syed, A. A., Simmonds, M. J., Brand, O. J., Franklyn, J. A., Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Chromosomes, Human, Pair 5

Clinical Trials

Coagulation

Hanscombe, Ken B., Traylor, Matthew, Hysi, Pirro G., Bevan, Stephen, Dichgans, Martin, Rothwell, Peter M., Worrall, Bradford B., Seshadri, Sudha, Sudlow, Cathie, Williams, Frances M. K., Markus, Hugh S. and Lewis, Cathryn M. (2015) Genetic factors influencing coagulation factor XIII B-subunit contribute to risk of ischemic stroke. Stroke, 46 (8). pp. 2069-2074. ISSN 0039-2499

Colorectal Cancer

Common disease

Craddock, Nick, Hurles, Matthew E., Cardin, Niall, Pearson, Richard D., Plagnol, Vincent, Robson, Samuel, Vukcevic, Damjan, Barnes, Chris, Conrad, Donald F., Giannoulatou, Eleni, Holmes, Chris, Marchini, Jonathan L., Stirrups, Kathy, Tobin, Martin D., Wain, Louise V., Yau, Chris, Aerts, Jan, Ahmad, Tariq, Daniel Andrews, T., Arbury, Hazel, Attwood, Anthony, Auton, Adam, Ball, Stephen G., Balmforth, Anthony J., Barrett, Jeffrey C., Barroso, Inês, Barton, Anne, Bennett, Amanda J., Bhaskar, Sanjeev, Blaszczyk, Katarzyna, Bowes, John, Brand, Oliver J., Braund, Peter S., Bredin, Francesca, Breen, Gerome, Brown, Morris J., Bruce, Ian N., Bull, Jaswinder, Burren, Oliver S., Burton, John, Byrnes, Jake, Caesar, Sian, Clee, Chris M., Coffey, Alison J., Connell, John M. C., Cooper, Jason D., Dominiczak, Anna F., Downes, Kate, Drummond, Hazel E., Dudakia, Darshna, Dunham, Andrew, Ebbs, Bernadette, Eccles, Diana, Edkins, Sarah, Edwards, Cathryn, Elliot, Anna, Emery, Paul, Evans, David M., Evans, Gareth, Eyre, Steve, Farmer, Anne, Nicol Ferrier, I., Feuk, Lars, Fitzgerald, Tomas, Flynn, Edward, Forbes, Alistair, Forty, Liz, Franklyn, Jayne A., Freathy, Rachel M., Gibbs, Polly, Gilbert, Paul, Gokumen, Omer, Gordon-Smith, Katherine, Gray, Emma, Green, Elaine, Groves, Chris J., Grozeva, Detelina, Gwilliam, Rhian, Hall, Anita, Hammond, Naomi, Hardy, Matt, Harrison, Pile, Hassanali, Neelam, Hebaishi, Husam, Hines, Sarah, Hinks, Anne, Hitman, Graham A, Hocking, Lynne, Howard, Eleanor, Howard, Philip, Howson, Joanna M. M., Hughes, Debbie, Hunt, Sarah, Isaacs, John D., Jain, Mahim, Jewell, Derek P., Johnson, Toby, Jolley, Jennifer D., Jones, Ian R., Jones, Lisa A., Kirov, George, Langford, Cordelia F., Lango-Allen, Hana, Mark Lathrop, G., Lee, James, Lee, Kate L., Lees, Charlie, Lewis, Kevin, Lindgren, Cecilia M., Maisuria-Armer, Meeta, Maller, Julian, Mansfield, John, Martin, Paul, Massey, Dunecan C. O., McArdle, Wendy L., McGuffin, Peter, McLay, Kirsten E., Mentzer, Alex, Mimmack, Michael L., Morgan, Ann E., Morris, Andrew P., Mowat, Craig, Myers, Simon, Newman, William, Nimmo, Elaine R., O’Donovan, Michael C., Onipinla, Abiodun, Onyiah, Ifejinelo, Ovington, Nigel R., Owen, Michael J., Palin, Kimmo, Parnell, Kirstie, Pernet, David, Perry, John R. B., Phillips, Anne, Pinto, Dalila, Prescott, Natalie J., Prokopenko, Inga, Quail, Michael A., Rafelt, Suzanne, Rayner, Nigel W., Redon, Richard, Reid, David M., Renwick, Anthony, Ring, Susan M., Robertson, Neil, Russell, Ellie, St Clair, David, Sambrook, Jennifer G., Sanderson, Jeremy D., Schuilenburg, Helen, Scott, Carol E., Scott, Richard, Seal, Sheila, Shaw-Hawkins, Sue, Shields, Beverley M., Simmonds, Matthew J., Smyth, Debbie J., Somaskantharajah, Elilan, Spanova, Katarina, Steer, Sophia, Stephens, Jonathan, Stevens, Helen E., Stone, Millicent A., Su, Zhan, Symmons, Deborah P. M., Thompson, John R., Thomson, Wendy, Travers, Mary E., Turnbull, Clare, Valsesia, Armand, Walker, Mark, Walker, Neil M., Wallace, Chris, Warren-Perry, Margaret, Watkins, Nicholas A., Webster, John, Weedon, Michael N., Wilson, Anthony G., Woodburn, Matthew, Wordsworth, B. Paul, Young, Allan H., Zeggini, Eleftheria, Carter, Nigel P., Frayling, Timothy M., Lee, Charles, McVean, Gil, Munroe, Patricia B., Palotie, Aarno, Sawcer, Stephen J., Scherer, Stephen W., Strachan, David P., Tyler-Smith, Chris, Brown, Matthew A., Burton, Paul R., Caulfield, Mark J., Compston, Alastair, Farrall, Martin, Gough, Stephen C. L., Hall, Alistair S., Hattersley, Andrew T., Hill, Adrian V. S., Mathew, Christopher G., Pembrey, Marcus, Satsangi, Jack, Stratton, Michael R., Worthington, Jane, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P., McCarthy, Mark I., Ouwehand, Willem H., Parkes, Miles, Rahman, Nazneen, Todd, John A., Samani, Nilesh J. and Donnelly, Peter (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464 (7289). pp. 713-720. ISSN 0028-0836

Complex disease

Burton, Paul R., Clayton, David G., Cardon, Lon R., Craddock, Nick, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P., McCarthy, Mark I., Ouwehand, Willem H., Samani, Nilesh J., Todd, John A., Donnelly, Peter, Barrett, Jeffrey C., Burton, Paul R., Davison, Dan, Donnelly, Peter, Easton, Doug, Evans, David, Leung, Hin-Tak, Marchini, Jonathan L., Morris, Andrew P., Spencer, Chris C. A., Tobin, Martin D., Cardon, Lon R., Clayton, David G., Attwood, Antony P., Boorman, James P., Cant, Barbara, Everson, Ursula, Hussey, Judith M., Jolley, Jennifer D., Knight, Alexandra S., Koch, Kerstin, Meech, Elizabeth, Nutland, Sarah, Prowse, Christopher V., Stevens, Helen E., Taylor, Niall C., Walters, Graham R., Walker, Neil M., Watkins, Nicholas A., Winzer, Thilo, Todd, John A., Ouwehand, Willem H., Jones, Richard W., McArdle, Wendy L., Ring, Susan M., Strachan, David P., Pembrey, Marcus, Breen, Gerome, St Clair, David, Caesar, Sian, Gordon-Smith, Katherine, Jones, Lisa, Fraser, Christine, Green, Elaine K., Grozeva, Detelina, Hamshere, Marian L., Holmans, Peter A., Jones, Ian R., Kirov, George, Moskvina, Valentina, Nikolov, Ivan, O'Donovan, Michael C., Owen, Michael J., Craddock, Nick, Collier, David A., Elkin, Amanda, Farmer, Anne, Williamson, Richard, McGuffin, Peter, Young, Allan H., Ferrier, I. Nicol, Ball, Stephen G., Balmforth, Anthony J., Barrett, Jennifer H., Bishop, D. Timothy, Iles, Mark M., Maqbool, Azhar, Yuldasheva, Nadira, Hall, Alistair S., Braund, Peter S., Burton, Paul R., Dixon, Richard J., Mangino, Massimo, Stevens, Suzanne, Tobin, Martin D., Thompson, John R., Samani, Nilesh J., Bredin, Francesca, Tremelling, Mark, Parkes, Miles, Drummond, Hazel, Lees, Charles W., Nimmo, Elaine R., Satsangi, Jack, Fisher, Sheila A., Forbes, Alastair, Lewis, Cathryn M., Onnie, Clive M., Prescott, Natalie J., Sanderson, Jeremy, Mathew, Christopher G., Barbour, Jamie, Mohiuddin, M. Khalid, Todhunter, Catherine E., Mansfield, John C., Ahmad, Tariq, Cummings, Fraser R., Jewell, Derek P., Webster, John, Brown, Morris J., Clayton, David G., Lathrop, G. Mark, Connell, John, Dominiczak, Anna, Samani, Nilesh J., Marcano, Carolina A. Braga, Burke, Beverley, Dobson, Richard, Gungadoo, Johannie, Lee, Kate L., Munroe, Patricia B., Newhouse, Stephen J., Onipinla, Abiodun, Wallace, Chris, Xue, Mingzhan, Caulfield, Mark, Farrall, Martin, Barton, Anne, and Genomics (BRAGGS), The Biologics in RA Genetics, Bruce, Ian N., Donovan, Hannah, Eyre, Steve, Gilbert, Paul D., Hider, Samantha L., Hinks, Anne M., John, Sally L., Potter, Catherine, Silman, Alan J., Symmons, Deborah P. M., Thomson, Wendy, Worthington, Jane, Clayton, David G., Dunger, David B., Nutland, Sarah, Stevens, Helen E., Walker, Neil M., Widmer, Barry, Todd, John A., Frayling, Timothy M., Freathy, Rachel M., Lango, Hana, Perry, John R. B., Shields, Beverley M., Weedon, Michael N., Hattersley, Andrew T., Hitman, Graham A., Walker, Mark, Elliott, Kate S., Groves, Christopher J., Lindgren, Cecilia M., Rayner, Nigel W., Timpson, Nicholas J., Zeggini, Eleftheria, McCarthy, Mark I., Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Vannberg, Fredrik, Hill, Adrian V. S., Bradbury, Linda A., Farrar, Claire, Pointon, Jennifer J., Wordsworth, Paul, Brown, Matthew A., Franklyn, Jayne A., Heward, Joanne M., Simmonds, Matthew J., Gough, Stephen C. L., Seal, Sheila, Susceptibility Collaboration (UK), Breast Cancer, Stratton, Michael R., Rahman, Nazneen, Ban, Maria, Goris, An, Sawcer, Stephen J., Compston, Alastair, Conway, David, Jallow, Muminatou, Newport, Melanie, Sirugo, Giorgio, Rockett, Kirk A., Kwiatkowski, Dominic P., Bumpstead, Suzannah J., Chaney, Amy, Downes, Kate, Ghori, Mohammed J. R., Gwilliam, Rhian, Hunt, Sarah E., Inouye, Michael, Keniry, Andrew, King, Emma, McGinnis, Ralph, Potter, Simon, Ravindrarajah, Rathi, Whittaker, Pamela, Widden, Claire, Withers, David, Deloukas, Panos, Leung, Hin-Tak, Nutland, Sarah, Stevens, Helen E., Walker, Neil M., Todd, John A., Easton, Doug, Clayton, David G., Burton, Paul R., Tobin, Martin D., Barrett, Jeffrey C., Evans, David, Morris, Andrew P., Cardon, Lon R., Cardin, Niall J., Davison, Dan, Ferreira, Teresa, Pereira-Gale, Joanne, Hallgrimsdóttir, Ingileif B., Howie, Bryan N., Marchini, Jonathan L., Spencer, Chris C. A., Su, Zhan, Teo, Yik Ying, Vukcevic, Damjan, Donnelly, Peter, Bentley, David, Brown, Matthew A., Cardon, Lon R., Caulfield, Mark, Clayton, David G., Compston, Alistair, Craddock, Nick, Deloukas, Panos, Donnelly, Peter, Farrall, Martin, Gough, Stephen C. L., Hall, Alistair S., Hattersley, Andrew T., Hill, Adrian V. S., Kwiatkowski, Dominic P., Mathew, Christopher G., McCarthy, Mark I., Ouwehand, Willem H., Parkes, Miles, Pembrey, Marcus, Rahman, Nazneen, Samani, Nilesh J., Stratton, Michael R., Todd, John A. and Worthington, Jane (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447 (7145). pp. 661-678. ISSN 0028-0836

Coronavirus

CpG island

DNA methylation

Disease

Endocrinology

Europe

European Continental Ancestry Group

Exosomes

FRMD7

Tarpey, Patrick, Thomas, Shery, Sarvananthan, Nagini, Mallya, Uma, Lisgo, Steven, Talbot, Chris J., Roberts, Eryl O., Awan, Musarat, Surendran, Mylvaganam, McLean, Rebecca J., Reinecke, Robert D., Langmann, Andrea, Lindner, Susanne, Koch, Martina, Jain, Sunila, Woodruff, Geoffrey, Gale, Richard P., Bastawrous, Andrew, Degg, Chris, Droutsas, Konstantinos, Asproudis, Ioannis, Zubcov, Alina A., Pieh, Christina, Veal, Colin D., Machado, Rajiv D., Backhouse, Oliver C., Baumber, Laura, Constantinescu, Cris S., Brodsky, Michael C., Hunter, David G., Hertle, Richard W., Read, Randy J., Edkins, Sarah, O'Meara, Sarah, Parker, Adrian, Stevens, Claire, Teague, Jon, Wooster, Richard, Futreal, P. Andrew, Trembath, Richard C., Stratton, Michael R., Raymond, F. Lucy and Gottlob, Irene (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics, 38 (11). pp. 1242-4. ISSN 1061-4036

Female preponderance

Fibrillarin

Finland

GWAS

Gene Frequency

Gene expression

Gene identification

Gene mutation

Thomson, J., Machado, Rajiv, Pauciulo, M., Morgan, N., Yacoub, M., Corris, P., McNeil, K., Loyd, J., Nichols, W. and Trembath, R. (2001) Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein type II receptor. Journal of Heart and Lung Transplantation, 20 (2). p. 149. ISSN 1053-2498

Gene regulation

Gene targeting

Gene therapy

Machado, R. D. (2012) Seeking the right targets: gene therapy advances in pulmonary arterial hypertension. The European Respiratory Journal : official journal of the European Society for Clinical Respiratory Physiology, 39 (2). pp. 235-237. ISSN 0903-1936

Genes

Nejentsev, Sergey, Howson, Joanna M. M., Walker, Neil M., Szeszko, Jeffrey, Field, Sarah F., Stevens, Helen E., Reynolds, Pamela, Hardy, Matthew, King, Erna, Masters, Jennifer, Hulme, John, Maier, Lisa M., Smyth, Deborah, Bailey, Rebecca, Cooper, Jason D., Ribas, Gloria, Campbell, R. Duncan, Clayton, David G., Todd, John A., Burton, Paul R., Clayton, David G., Cardon, Lon R., Craddock, Nick, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P., McCarthy, Mark I., Ouwehand, Willem H., Samani, Nilesh J., Todd, John A., Donnelly, Peter, Barrett, Jeffrey C., Burton, Paul R., Davison, Dan, Donnelly, Peter, Easton, Doug, Evans, David, Leung, Hin-Tak, Marchini, Jonathan L., Morris, Andrew P., Spencer, Chris C. A., Tobin, Martin D., Cardon, Lon R., Clayton, David G., Attwood, Antony P., Boorman, James P., Cant, Barbara, Everson, Ursula, Hussey, Judith M., Jolley, Jennifer D., Knight, Alexandra S., Koch, Kerstin, Meech, Elizabeth, Nutland, Sarah, Prowse, Christopher V., Stevens, Helen E., Taylor, Niall C., Walters, Graham R., Walker, Neil M., Watkins, Nicholas A., Winzer, Thilo, Todd, John A., Ouwehand, Willem H., Jones, Richard W., McArdle, Wendy L., Ring, Susan M., Strachan, David P., Pembrey, Marcus, Breen, Gerome, St Clair, David, Caesar, Sian, Gordon-Smith, Katherine, Jones, Lisa, Fraser, Christine, Green, Elaine K., Grozeva, Detelina, Hamshere, Marian L., Holmans, Peter A., Jones, Ian R., Kirov, George, Moskvina, Valentina, Nikolov, Ivan, O’Donovan, Michael C., Owen, Michael J., Craddock, Nick, Collier, David A., Elkin, Amanda, Farmer, Anne, Williamson, Richard, McGuffin, Peter, Young, Allan H., Nicol Ferrier, I., Ball, Stephen G., Balmforth, Anthony J., Barrett, Jennifer H., Bishop, D. Timothy, Iles, Mark M., Maqbool, Azhar, Yuldasheva, Nadira, Hall, Alistair S., Braund, Peter S., Burton, Paul R., Dixon, Richard J., Mangino, Massimo, Stevens, Suzanne, Tobin, Martin D., Thompson, John R., Samani, Nilesh J., Bredin, Francesca, Tremelling, Mark, Parkes, Miles, Drummond, Hazel, Lees, Charles W., Nimmo, Elaine R., Satsangi, Jack, Fisher, Sheila A., Forbes, Alastair, Lewis, Cathryn M., Onnie, Clive M., Prescott, Natalie J., Sanderson, Jeremy, Mathew, Christopher G., Barbour, Jamie, Khalid Mohiuddin, M., Todhunter, Catherine E., Mansfield, John C., Ahmad, Tariq, Cummings, Fraser R., Jewell, Derek P., Webster, John, Brown, Morris J., Clayton, David G., Lathrop, G. Mark, Connell, John, Dominiczak, Anna, Samani, Nilesh J., Braga, Carolina A., Burke, Beverley, Dobson, Richard, Gungadoo, Johannie, Lee, Kate L., Munroe, Patricia B., Newhouse, Stephen J., Onipinla, Abiodun, Wallace, Chris, Xue, Mingzhan, Caulfield, Mark, Farrall, Martin, Barton, Anne, Bruce, Ian N., Donovan, Hannah, Eyre, Steve, Gilbert, Paul D., Hider, Samantha L., Hinks, Anne M., John, Sally L., Potter, Catherine, Silman, Alan J., Symmons, Deborah P. M., Thomson, Wendy, Worthington, Jane, Clayton, David G., Dunger, David B., Nutland, Sarah, Stevens, Helen E., Walker, Neil M., Widmer, Barry, Todd, John A., Frayling, Timothy M., Freathy, Rachel M., Lango, Hana, Perry, John R. B., Shields, Beverley M., Weedon, Michael N., Hattersley, Andrew T., Hitman, Graham A., Walker, Mark, Elliott, Kate S., Groves, Christopher J., Lindgren, Cecilia M., Rayner, Nigel W., Timpson, Nicholas J., Zeggini, Eleftheria, McCarthy, Mark I., Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Vannberg, Fredrik, Hill, Adrian V. S., Bradbury, Linda A., Farrar, Claire, Pointon, Jennifer J., Wordsworth, Paul, Brown, Matthew A., Franklyn, Jayne A., Heward, Joanne M., Simmonds, Matthew J., Gough, Stephen C. L., Seal, Sheila, Stratton, Michael R., Rahman, Nazneen, Ban, Maria, Goris, An, Sawcer, Stephen J., Compston, Alastair, Conway, David, Jallow, Muminatou, Newport, Melanie, Sirugo, Giorgio, Rockett, Kirk A., Kwiatkowski, Dominic P., Bryan, Claire, Bumpstead, Suzannah J., Chaney, Amy, Downes, Kate, Ghori, Jilur, Gwilliam, Rhian, Hunt, Sarah E., Inouye, Michael, Keniry, Andrew, King, Emma, McGinnis, Ralph, Potter, Simon, Ravindrarajah, Rathi, Whittaker, Pamela, Withers, David, Deloukas, Panos, Leung, Hin-Tak, Nutland, Sarah, Stevens, Helen E., Walker, Neil M., Todd, John A., Easton, Doug, Clayton, David G., Burton, Paul R., Tobin, Martin D., Barrett, Jeffrey C., Evans, David, Morris, Andrew P., Cardon, Lon R., Cardin, Niall J., Davison, Dan, Ferreira, Teresa, Pereira-Gale, Joanne, Hallgrimsdóttir, Ingeleif B., Howie, Bryan N., Marchini, Jonathan L., Spencer, Chris C. A., Su, Zhan, Ying Teo, Yik, Vukcevic, Damjan, Donnelly, Peter, Bentley, David, Brown, Matthew A., Cardon, Lon R., Caulfield, Mark, Clayton, David G., Compston, Alistair, Craddock, Nick, Deloukas, Panos, Donnelly, Peter, Farrall, Martin, Gough, Stephen C. L., Hall, Alistair S., Hattersley, Andrew T., Hill, Adrian V. S., Kwiatkowski, Dominic P., Mathew, Christopher G., McCarthy, Mark I., Ouwehand, Willem H., Parkes, Miles, Pembrey, Marcus, Rahman, Nazneen, Samani, Nilesh J., Stratton, Michael R., Todd, John A. and Worthington, Jane (2007) Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature, 450 (7171). pp. 887-892. ISSN 0028-0836

Genetic Markers

Genetic Predisposition to Disease

Genetic Variation

Wood, Alice M., Needham, Michelle, Simmonds, Matthew J., Newby, Paul R., Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Genetic association studies

Genetic epidemiology

Holliday, Elizabeth G., Traylor, Matthew, Malik, Rainer, Bevan, Stephen, Maguire, Jane, Koblar, Simon A., Sturm, Jonathan, Hankey, Graeme J., Oldmeadow, Christopher, McEvoy, Mark, Sudlow, Cathie, Rothwell, Peter M., Coresh, Josef, Hamet, Pavel, Tremblay, Johanne, Turner, Stephen T., de Andrade, Mariza, Rao, Madhumathi, Schmidt, Reinhold, Crick, Peter A., Robino, Antonietta, Peralta, Carmen A., Jukema, J. Wouter, Mitchell, Paul, Rosas, Sylvia E., Wang, Jie Jin, Scott, Rodney J., Dichgans, Martin, Mitchell, Braxton D., Kao, W.H. Linda, Fox, Caroline S., Levi, Christopher, Attia, John and Markus, Hugh S. (2014) Polygenic overlap between kidney function and large artery atherosclerotic stroke. Stroke, 45 (12). pp. 3508-3513. ISSN 0039-2499

Genetics

Adib-Samii, Poneh, Devan, William, Traylor, Matthew, Lanfranconi, Silvia, Zhang, Cathy R., Cloonan, Lisa, Falcone, Guido J., Radmanesh, Farid, Fitzpatrick, Kaitlin, Kanakis, Allison, Rothwell, Peter M., Sudlow, Cathie, Boncoraglio, Giorgio B., Meschia, James F., Levi, Chris, Dichgans, Martin, Bevan, Steve, Rosand, Jonathan, Rost, Natalia S. and Markus, Hugh S. (2015) Genetic architecture of white matter hyperintensities differs in hypertensive and nonhypertensive ischemic stroke. Stroke, 46 (2). pp. 348-353. ISSN 0039-2499

Frayling, Timothy M., Traylor, Matthew, Mäkelä, Kari-Matti, Kilarski, Laura L., Holliday, Elizabeth G., Devan, William J., Nalls, Mike A., Wiggins, Kerri L., Zhao, Wei, Cheng, Yu-Ching, Achterberg, Sefanja, Malik, Rainer, Sudlow, Cathie, Bevan, Steve, Raitoharju, Emma, Oksala, Niku, Thijs, Vincent, Lemmens, Robin, Lindgren, Arne, Slowik, Agnieszka, Maguire, Jane M., Walters, Matthew, Algra, Ale, Sharma, Pankaj, Attia, John R., Boncoraglio, Giorgio B., Rothwell, Peter M., de Bakker, Paul I. W., Bis, Joshua C., Saleheen, Danish, Kittner, Steven J., Mitchell, Braxton D., Rosand, Jonathan, Meschia, James F., Levi, Christopher, Dichgans, Martin, Lehtimäki, Terho, Lewis, Cathryn M. and Markus, Hugh S. (2014) A novel MMP12 locus Is associated with large artery atherosclerotic stroke Using a genome-wide age-at-onset informed approach. PLoS Genetics, 10 (7). e1004469. ISSN 1553-7390

Gesierich, Benno, Opherk, Christian, Rosand, Jonathan, Gonik, Mariya, Malik, Rainer, Jouvent, Eric, Hervé, Dominique, Adib-Samii, Poneh, Bevan, Steve, Pianese, Luigi, Silvestri, Serena, Dotti, Maria T., De Stefano, Nicola, van der Grond, Jeroen, Boon, Elles M. J., Pescini, Francesca, Rost, Natalia, Pantoni, Leonardo, Lesnik Oberstein, Saskia A., Federico, Antonio, Ragno, Michele, Markus, Hugh S., Tournier-Lasserve, Elisabeth, Chabriat, Hugues, Dichgans, Martin, Duering, Marco and Ewers, Michael (2016) APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL. Journal of Cerebral Blood Flow & Metabolism . ISSN 0271-678X

Kilarski, L. L., Achterberg, S., Devan, W. J., Traylor, M., Malik, R., Lindgren, A., Pare, G., Sharma, P., Slowik, A., Thijs, V., Walters, M., Worrall, B. B., Sale, M. M., Algra, A., Kappelle, L. J., Wijmenga, C., Norrving, B., Sandling, J. K., Ronnblom, L., Goris, A., Franke, A., Sudlow, C., Rothwell, P. M., Levi, C., Holliday, E. G., Fornage, M., Psaty, B., Gretarsdottir, S., Thorsteinsdottir, U., Seshadri, S., Mitchell, B. D., Kittner, S., Clarke, R., Hopewell, J. C., Bis, J. C., Boncoraglio, G. B., Meschia, J., Ikram, M. A., Hansen, B. M., Montaner, J., Thorleifsson, G., Stefanson, K., Rosand, J., de Bakker, P. I. W., Farrall, M., Dichgans, M., Markus, H. S. and Bevan, S. (2014) Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12. Neurology, 83 (8). pp. 678-685. ISSN 0028-3878

Machado, Rajiv D. and Trembath, Richard C. (2012) Genetics [chapter 3]. In: Pulmonary Arterial Hypertension. Oxford Cardiology Library . Oxford University Press, pp. 31-44. ISBN 0199572631, 9780199572632

Machado, Rajiv D., Trembath, Richard C. and Morrell, Nicholas W. (2011) Genetics of severe pulmonary hypertension [chapter 12]. In: Pulmonary hypertension: the present and future. People’s Medical Publishing House (PMPH), USA, pp. 197-210. ISBN 1607950375, 9781607950370

Malik, Rainer, Dau, Therese, Gonik, Maria, Sivakumar, Anirudh, Deredge, Daniel J., Edeleva, Evgeniia V., Götzfried, Jessica, van der Laan, Sander W., Pasterkamp, Gerard, Beaufort, Nathalie, Seixas, Susana, Bevan, Stephen, Lincz, Lisa F., Holliday, Elizabeth G., Burgess, Annette I., Rannikmäe, Kristiina, Minnerup, Jens, Kriebel, Jennifer, Waldenberger, Melanie, Müller-Nurasyid, Martina, Lichtner, Peter, Saleheen, Danish, Rothwell, Peter M., Levi, Christopher, Attia, John, Sudlow, Cathie L. M., Braun, Dieter, Markus, Hugh S., Wintrode, Patrick L., Berger, Klaus, Jenne, Dieter E. and Dichgans, Martin (2017) Common coding variant in SERPINA1 increases the risk for large artery stroke. Proceedings of the National Academy of Sciences, 114 (14). pp. 3613-3618. ISSN 0027-8424

McCafferty, Cian, Connelly, William M., Celli, Roberta, Ngomba, Richard T., Nicoletti, Ferdinando and Crunelli, Vincenzo (2018) Genetic rescue of absence seizures. CNS Neuroscience & Therapeutics . ISSN 1755-5930

Simmonds, M. J. (2015) Utilizing genetic variation to predict and extend long-term kidney transplant function. Transplantation, 99 (10). pp. 2038-2048. ISSN 0041-1337

Genetics research

Markus, Hugh S. and Bevan, Steve (2014) Mechanisms and treatment of ischaemic stroke: insights from genetic associations. Nature Reviews Neurology, 10 (12). pp. 723-730. ISSN 1759-4758

Genome Wide Association Study

Genome-wide association studies

Genome-wide association study

Genomic

Graves Ophthalmopathy

Graves disease

Graves' disease

Great Britain

HLA Class I

HLA-A

HLA-B

HSD11B2 gene

Haploinsufficiency

Hashimoto's Thyroiditis

Helicase

Hereditary haemorrhagic telangiectasia

Humans

Hypertension

IL10 protein, human

IL1A protein, human

IL1B protein, human

IL1RN protein, human

IL6 protein, human

Idiopathic congenital nystagmus

Imaging

Infectious disease

Interleukin 1 Receptor Antagonist Protein

Interleukin-10

Interleukin-1alpha

Interleukin-1beta

Interleukin-3

Interleukin-6

Interleukins

JCOpen

Kidney

Kidney Failure, Chronic

Kidney transplant

Simmonds, M. J. (2015) Utilizing genetic variation to predict and extend long-term kidney transplant function. Transplantation, 99 (10). pp. 2038-2048. ISSN 0041-1337

Lacunar stroke

Large artery stroke

Leukoaraiosis

Life course

Linkage (Genetics)

MHC Class I

Maternal smoking

Mediation

Motor neuron

Multiple Sclerosis

Mutation

Mutation review

Neurodegeneration

Neurology

Markus, Hugh S. and Bevan, Steve (2014) Mechanisms and treatment of ischaemic stroke: insights from genetic associations. Nature Reviews Neurology, 10 (12). pp. 723-730. ISSN 1759-4758

Neuroscience

NotOAChecked

Chauhan, Ganesh, Arnold, Corey R., Chu, Audrey Y., Fornage, Myriam, Reyahi, Azadeh, Bis, Joshua C., Havulinna, Aki S., Sargurupremraj, Muralidharan, Smith, Albert Vernon, Adams, Hieab H. H., Choi, Seung Hoan, Pulit, Sara L., Trompet, Stella, Garcia, Melissa E., Manichaikul, Ani, Teumer, Alexander, Gustafsson, Stefan, Bartz, Traci M., Bellenguez, Céline, Vidal, Jean Sebastien, Jian, Xueqiu, Kjartansson, Olafur, Wiggins, Kerri L., Satizabal, Claudia L., Xue, Flora, Ripatti, Samuli, Liu, Yongmei, Deelen, Joris, den Hoed, Marcel, Bevan, Steve, Hopewell, Jemma C., Malik, Rainer, Heckbert, Susan R., Rice, Kenneth, Smith, Nicholas L., Levi, Christopher, Sharma, Pankaj, Sudlow, Cathie LM, Nik, Ali Moussavi, Cole, John W., Schmidt, Reinhold, Meschia, James, Thijs, Vincent, Lindgren, Arne, Melander, Olle, Grewal, Raji P., Sacco, Ralph L., Rundek, Tatjana, Rothwell, Peter M., Arnett, Donna K., Jern, Christina, Johnson, Julie A., Benavente, Oscar R., Wassertheil-Smoller, Sylvia, Lee, Jin-Moo, Wong, Quenna, Aparicio, Hugo J., Engelter, Stefan T., Kloss, Manja, Leys, Didier, Pezzini, Alessandro, Buring, Julie E., Ridker, Paul M., Berr, Claudine, Dartigues, Jean-François, Hamsten, Anders, Magnusson, Patrik K., Traylor, Matthew, Pedersen, Nancy L., Lannfelt, Lars, Lindgren, Lars, Lindgren, Cecilia M., Morris, Andrew P., Jimenez-Conde, Jordi, Montaner, Joan, Radmanesh, Farid, Slowik, Agnieszka, Woo, Daniel, Hofman, Albert, Koudstaal, Peter J., Portegies, Marileen L. P., Uitterlinden, André G., de Craen, Anton J. M., Ford, Ian, Jukema, J. Wouter, Stott, David J., Allen, Norrina B., Sale, Michele M., Johnson, Andrew D., Bennett, David A., De Jager, Philip L., White, Charles C., Grabe, Hans Jörgen, Markus, Marcello Ricardo Paulista, Schminke, Ulf, Boncoraglio, Giorgio B., Clarke, Robert, Kamatani, Yoichiro, Dallongeville, Jean, Lopez, Oscar L., Rotter, Jerome I., Nalls, Michael A., Gottesman, Rebecca F., Griswold, Michael E., Knopman, David S., Windham, B. Gwen, Beiser, Alexa, Markus, Hugh S., Vartiainen, Erkki, French, Curtis R., Dichgans, Martin, Pastinen, Tomi, Lathrop, Mark, Gudnason, Vilmundur, Kurth, Tobias, Psaty, Bruce M., Harris, Tamara B., Rich, Stephen S., deStefano, Anita L., Schmidt, Carsten Oliver, Worrall, Bradford B., Rosand, Jonathan, Salomaa, Veikko, Mosley, Thomas H., Ingelsson, Erik, van Duijn, Cornelia M., Tzourio, Christophe, Rexrode, Kathryn M., Lehmann, Ordan J., Launer, Lenore J., Ikram, M. Arfan, Carlsson, Peter, Chasman, Daniel I., Childs, Sarah J., Longstreth, William T., Seshadri, Sudha and Debette, Stéphanie (2016) Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies. The Lancet Neurology, 15 (7). pp. 695-707. ISSN 1474-4422

Harris, Sarah E., Malik, Rainer, Marioni, Riccardo, Campbell, Archie, Seshadri, Sudha, Worrall, Bradford B., Sudlow, Cathie L.M., Hayward, Caroline, Bastin, Mark E., Starr, John M., Porteous, David J., Wardlaw, Joanna M., Deary, Ian J. and UNSPECIFIED (2016) Polygenic risk of ischemic stroke is associated with cognitive ability. Neurology, 86 (7). pp. 611-618. ISSN 0028-3878

Malik, Rainer, Traylor, Matthew, Pulit, Sara L., Bevan, Steve, Hopewell, Jemma C., Holliday, Elizabeth G., Zhao, Wei, Abrantes, Patricia, Amouyel, Philippe, Attia, John R., Battey, Thomas W.K., Berger, Klaus, Boncoraglio, Giorgio B., Chauhan, Ganesh, Cheng, Yu-Ching, Chen, Wei-Min, Clarke, Robert, Cotlarciuc, Ioana, Debette, Stephanie, Falcone, Guido J., Ferro, Jose M., Gamble, Dale M., Ilinca, Andreea, Kittner, Steven J., Kourkoulis, Christina E., Lemmens, Robin, Levi, Christopher R., Lichtner, Peter, Lindgren, Arne, Liu, Jingmin, Meschia, James F., Mitchell, Braxton D., Oliveira, Sofia A., Pera, Joana, Reiner, Alex P., Rothwell, Peter M., Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie L.M., Tatlisumak, Turgut, Thijs, Vincent, Vicente, Astrid M., Woo, Daniel, Seshadri, Sudha, Saleheen, Danish, Rosand, Jonathan, Markus, Hugh S., Worrall, Bradford B. and Dichgans, Martin (2016) Low-frequency and common genetic variation in ischemic stroke. Neurology, 86 (13). pp. 1217-1226. ISSN 0028-3878

Markus, Hugh S. and Bevan, Steve (2014) Mechanisms and treatment of ischaemic stroke: insights from genetic associations. Nature Reviews Neurology, 10 (12). pp. 723-730. ISSN 1759-4758

Pulit, Sara L., McArdle, Patrick F., Wong, Quenna, Malik, Rainer, Gwinn, Katrina, Achterberg, Sefanja, Algra, Ale, Amouyel, Philippe, Anderson, Christopher D., Arnett, Donna K., Arsava, Ethem Murat, Attia, John, Ay, Hakan, Bartz, Traci M., Battey, Thomas, Benavente, Oscar R., Bevan, Steve, Biffi, Alessandro, Bis, Joshua C., Blanton, Susan H., Boncoraglio, Giorgio B., Brown, Robert D., Burgess, Annette I., Carrera, Caty, Chapman Smith, Sherita N., Chasman, Daniel I., Chauhan, Ganesh, Chen, Wei-Min, Cheng, Yu-Ching, Chong, Michael, Cloonan, Lisa K., Cole, John W., Cotlarciuc, Ioana, Cruchaga, Carlos, Cuadrado-Godia, Elisa, Dave, Tushar, Dawson, Jesse, Debette, Stéphanie, Delavaran, Hossein, Dell, Cameron A., Dichgans, Martin, Doheny, Kimberly F., Dong, Chuanhui, Duggan, David J., Engström, Gunnar, Evans, Michele K., Pallejà, Xavier Estivill, Faul, Jessica D., Fernández-Cadenas, Israel, Fornage, Myriam, Frossard, Philippe M., Furie, Karen, Gamble, Dale M., Gieger, Christian, Giese, Anne-Katrin, Giralt-Steinhauer, Eva, González, Hector M., Goris, An, Gretarsdottir, Solveig, Grewal, Raji P., Grittner, Ulrike, Gustafsson, Stefan, Han, Buhm, Hankey, Graeme J., Heitsch, Laura, Higgins, Peter, Hochberg, Marc C., Holliday, Elizabeth, Hopewell, Jemma C., Horenstein, Richard B., Howard, George, Ikram, M. Arfan, Ilinca, Andreea, Ingelsson, Erik, Irvin, Marguerite R., Jackson, Rebecca D., Jern, Christina, Conde, Jordi Jiménez, Johnson, Julie A., Jood, Katarina, Kahn, Muhammad S., Kaplan, Robert, Kappelle, L Jaap, Kardia, Sharon L. R., Keene, Keith L., Kissela, Brett M., Kleindorfer, Dawn O., Koblar, Simon, Labovitz, Daniel, Launer, Lenore J., Laurie, Cathy C., Laurie, Cecelia A., Lee, Cue Hyunkyu, Lee, Jin-Moo, Lehm, Manuel, Lemmens, Robin, Levi, Christopher, Leys, Didier, Lindgren, Arne, Longstreth, W. T., Maguire, Jane, Manichaikul, Ani, Markus, Hugh S., McClure, Leslie A., McDonough, Caitrin W., Meisinger, Christa, Melander, Olle, Meschia, James F., Mola-Caminal, Marina, Montaner, Joan, Mosley, Thomas H., Müller-Nurasyid, Martina, Nalls, Mike A., O'Connell, Jeffrey R., O'Donnell, Martin, Ois, ángel, Papanicolaou, George J., Paré, Guillaume, Peddareddygari, Leema Reddy, Pedersén, Annie, Pera, Joanna, Peters, Annette, Poole, Deborah, Psaty, Bruce M., Rabionet, Raquel, Raffeld, Miriam R., Rannikmäe, Kristiina, Rasheed, Asif, Redfors, Petra, Reiner, Alex P., Rexrode, Kathryn, Ribasés, Marta, Rich, Stephen S., Robberecht, Wim, Rodriguez-Campello, Ana, Rolfs, Arndt, Roquer, Jaume, Rose, Lynda M., Rosenbaum, Daniel, Rost, Natalia S., Rothwell, Peter M., Rundek, Tatjana, Ryan, Kathleen A., Sacco, Ralph L., Sale, Michèle M., Saleheen, Danish, Salomaa, Veikko, Sánchez-Mora, Cristina, Schmidt, Carsten Oliver, Schmidt, Helena, Schmidt, Reinhold, Schürks, Markus, Scott, Rodney, Segal, Helen C., Seiler, Stephan, Seshadri, Sudha, Sharma, Pankaj, Shuldiner, Alan R., Silver, Brian, Slowik, Agnieszka, Smith, Jennifer A., Söderholm, Martin, Soriano, Carolina, Sparks, Mary J., Stanne, Tara, Stefansson, Kari, Stine, O. Colin, Strauch, Konstantin, Sturm, Jonathan, Sudlow, Cathie L. M., Tajuddin, Salman M., Talbert, Robert L., Tatlisumak, Turgut, Thijs, Vincent, Thorleifsson, Gudmar, Thorsteindottir, Unnur, Tiedt, Steffen, Traylor, Matthew, Trompet, Stella, Valant, Valerie, Waldenberger, Melanie, Walters, Matthew, Wang, Liyong, Wassertheil-Smoller, Sylvia, Weir, David R., Wiggins, Kerri L., Williams, Stephen R., Wloch-Kopec, Dorota, Woo, Daniel, Woodfield, Rebecca, Wu, Ona, Xu, Huichun, Zonderman, Alan B., Worrall, Bradford B., de Bakker, Paul I. W., Kittner, Steven J., Mitchell, Braxton D., Rosand, Jonathan, Mitchell, Braxton D., Ay, Hakan, Gwinn, Katrina, Kittner, Steven J., Lindgren, Arne, Meschia, James F., Pulit, Sara L., Sudlow, Cathie L. M., Thijs, Vincent, Woo, Daniel, Worrall, Bradford B. Worrall, Arnett, Donna K. Arnett, Benavente, Oscar, Cole, John W., Dichgans, Martin, Grewal, Raji P., Jern, Christina, Conde, Jordi Jiménez, Johnson, Julie A., Kittner, Steven J., Lee, Jin-Moo, Levi, Christopher, Lindgren, Arne, Markus, Hugh S., Melander, Olle, Meschia, James F., Rexrode, Kathryn, Rosand, Jonathan, Rothwell, Peter M., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie L. M., Thijs, Vincent, Wasssertheil-Smoller, Sylvia, Woo, Daniel and Worrall, Bradford B. (2016) Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. The Lancet Neurology, 15 (2). pp. 174-184. ISSN 1474-4422

Rutten-Jacobs, Loes C. A., Traylor, Matthew, Adib-Samii, Poneh, Thijs, Vincent, Sudlow, Cathie, Rothwell, Peter M., Boncoraglio, Giorgio, Dichgans, Martin, Meschia, James, Maguire, Jane, Levi, Christopher, Rost, Natalia S., Rosand, Jonathan, Hassan, Ahamad, Bevan, Steve and Markus, Hugh S. (2016) Association of MTHFRC677T genotype With ischemic stroke Is confined to cerebral small vessel disease subtype. Stroke (47). pp. 646-651. ISSN 0039-2499

Traylor, Matthew, Anderson, Christopher D., Hurford, Robert, Bevan, Steve and Markus, Hugh S. (2016) Oxidative phosphorylation and lacunar stroke. Neurology, 86 (2). pp. 141-145. ISSN 0028-3878

Traylor, Matthew, Zhang, Cathy R., Adib-Samii, Poneh, Devan, William J., Parsons, Owen E., Lanfranconi, Silvia, Gregory, Sarah, Cloonan, Lisa, Falcone, Guido J., Radmanesh, Farid, Fitzpatrick, Kaitlin, Kanakis, Allison, Barrick, Thomas R., Moynihan, Barry, Lewis, Cathryn M., Boncoraglio, Giorgio B., Lemmens, Robin, Thijs, Vincent, Sudlow, Cathie, Wardlaw, Joanna, Rothwell, Peter M., Meschia, James F., Worrall, Bradford B., Levi, Christopher, Bevan, Steve, Furie, Karen L., Dichgans, Martin, Rosand, Jonathan, Markus, Hugh S. and Rost, Natalia (2016) Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. Neurology, 86 (2). pp. 146-153. ISSN 0028-3878

Nucleocytoplasmic transport

Nucleolus

Odds Ratio

PAH

Karountzos, Anastasios (2019) The Roles of JAB1 and NOTCH1 in the Development of Cardiovascular Disease. PhD thesis, University of Lincoln.

Pancreas Transplantation

Persistence

Phenotype

Physical mapping

Machado, R. D., Pauciulo, M. W., Fretwell, N., Veal, C., Thomson, J. R., Vilariño Güell, C., Aldred, M., Brannon, C. A., Trembath, R. C. and Nichols, W. C. (2000) A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium. Genomics, 68 (2). pp. 220-228. ISSN 0888-7543

Polymorphism, Single Nucleotide

Pregnancy

Protein Tyrosine Phosphatase, Non-Receptor Type 12

Protein type II receptor

Pulmonary Disease, Chronic Obstructive

Pulmonary Emphysema

Pulmonary Surfactant-Associated Protein B

Pulmonary arterial hypertension

Grünig, Ekkehard, Weissmann, Sylvia, Ehlken, Nicola, Fijalkowska, Anna, Fischer, Christine, Fourme, Thierry, Galié, Nazzareno, Ghofrani, Ardeschir, Harrison, Rachel E, Huez, Sandrine, Humbert, Marc, Janssen, Bart, Kober, Jaroslaw, Koehler, Rolf, Machado, Rajiv D., Mereles, Derliz, Naeije, Robert, Olschewski, Horst, Provencher, Steeve, Reichenberger, Frank, Retailleau, Kathleen, Rocchi, Guido, Simonneau, Gérald, Torbicki, Adam, Trembath, Richard and Seeger, Werner (2009) Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia. Circulation, 119 (13). pp. 1747-1757. ISSN 0009-7322

Machado, Rajiv D., Eickelberg, Oliver, Elliott, C. Gregory, Geraci, Mark W., Hanaoka, Masayuki, Loyd, James E., Newman, John H., Phillips, John A., Soubrier, Florent, Trembath, Richard C. and Chung, Wendy K. (2009) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 54 (1 Supp). S32-42. ISSN 0735-1097

Machado, Rajiv D., Southgate, Laura, Eichstaedt, Christina A., Aldred, Micheala A., Austin, Eric D., Best, D. Hunter, Chung, Wendy K., Benjamin, Nicola, Elliott, C. Gregory, Eyries, Mélanie, Fischer, Christine, Gräf, Stefan, Hinderhofer, Katrin, Humbert, Marc, Keiles, Steven B., Loyd, James E., Morrell, Nicholas W., Newman, John H., Soubrier, Florent, Trembath, Richard C., Viales, Rebecca Rodríguez and Grünig, Ekkehard (2015) Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects. Human Mutation, 36 (12). pp. 1113-1127. ISSN 1059-7794

Pulmonary hypertension

Ran

RanGAP1

Receptors, Thyrotropin

Review

Rho GTPases

SERPINA1 protein, human

SNP

Seizures

Senataxin

Stroke

Markus, Hugh S. and Bevan, Steve (2014) Mechanisms and treatment of ischaemic stroke: insights from genetic associations. Nature Reviews Neurology, 10 (12). pp. 723-730. ISSN 1759-4758

McGlasson, Sarah, Rannikmäe, Kristiina, Bevan, Steven, Logan, Clare, Bicknell, Louise S., Jury, Alexa, Jackson, Andrew P., Markus, Hugh S., Sudlow, Cathie and Hunt, David P. J. (2017) Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke. Wellcome Open Research, 2 . p. 106. ISSN 2398-502X

Traylor, Matthew, Anderson, Christopher D., Hurford, Robert, Bevan, Steve and Markus, Hugh S. (2016) Oxidative phosphorylation and lacunar stroke. Neurology, 86 (2). pp. 141-145. ISSN 0028-3878

TDP-43

Transcription

Transgenesis

Transplantation

Simmonds, M. J. (2015) Utilizing genetic variation to predict and extend long-term kidney transplant function. Transplantation, 99 (10). pp. 2038-2048. ISSN 0041-1337

Tumor Necrosis Factor-alpha

Type 1 diabetes

United Kingdom, Asian Continental Ancestry Group

Uteroglobin

Variation

Vital Capacity

Vitamin D-Binding Protein

World Symposium

X chromosome

alpha 1 antitrypsin

alpha 1 antitrypsin deficiency

alpha 1-Antitrypsin

alpha 1-Antitrypsin Deficiency

amniocentesis

ankylosing spondylitis

arterial stiffness

Chand, S, Edwards, N.C., Chue, C.D., Jesky, M., Stringer, S., Simmonds, Matthew, Duff, C.E., Cockwell, P., Harper, L., Steeds, R.P., Townend, J.N., Ferro, C.J. and Borrows, R. (2016) Caveolin-1 single-nucleotide polymorphism and arterial stiffness in non-dialysis chronic kidney disease. Nephrology Dialysis Transplantation, 31 (7). pp. 1140-1144. ISSN 0931-0509

article

blood

cardiovascular disease

Karountzos, Anastasios (2019) The Roles of JAB1 and NOTCH1 in the Development of Cardiovascular Disease. PhD thesis, University of Lincoln.

case control study

caveolin-1

chromosome 5q

chronic bronchitis

chronic kidney disease

chronic kidney failure

chronic obstructive lung disease

cohort analysis

controlled study

copy number variants

data base

disease association

disease severity

endocrine ophthalmopathy

epigenetics

ethnology

eukoaraiosis

eye development

female

fetus development

forced expiratory volume

gene

gene expression

gene expression regulation

gene replication

genetic linkage

genetic polymorphism

genetic predisposition

genetic variability

genetics

genotype

glucocorticoid

graves disease

human

interleukin 1 receptor blocking agent

interleukin 10

interleukin 1alpha

interleukin 1beta

interleukin 3, article

interleukin 6

interleukin derivative, adult

intrauterine growth retardation

ischemic stroke

low birth weight

lung emphysema

major clinical study

male

messenger RNA

metabolic disorder

metabolism

middle aged

neurologic disease

non-synonymous SNPs

nonhuman

nucleotide sequence

ocular coloboma

pathophysiology

phenotype

pregnancy outcome

premature labor

prenatal exposure

prenatal stress

priority journal

promoter region

protein interaction

protein microarray

protein subunit

protein tyrosine phosphatase

proteomics

pulse wave velocity

qPCR

Karountzos, Anastasios (2019) The Roles of JAB1 and NOTCH1 in the Development of Cardiovascular Disease. PhD thesis, University of Lincoln.

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