Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Do Genetic Polymorphisms Affect Fetal Hemoglobin (HbF) Levels in Patients With Sickle Cell Anemia Treated With Hydroxyurea? A Systematic Review and Pathway Analysis.
The Role of Single Nucleotide Variants of NOS1, NOS2, and NOS3 Genes in the Development of the Phenotype of Migraine and Arterial Hypertension.
Brain Sciences
Moskaleva, Polina V PV; Shnayder, Natalya A NA; Petrova, Marina M MM; Kaskaeva, Daria S DS; Gavrilyuk, Oksana A OA; Radostev, Sergey V SV; Garganeeva, Natalia P NP; Sharavii, Victoria B VB; Vaiman, Elena E EE; Nasyrova, Regina F RF
Genome-based therapeutic interventions for β-type hemoglobinopathies.
Human Genomics
Karamperis, Kariofyllis K; Tsoumpeli, Maria T MT; Kounelis, Fotios F; Koromina, Maria M; Mitropoulou, Christina C; Moutinho, Catia C; Patrinos, George P GP
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: NOS2: D385D; rs1137933
Sex-Specific Genetic Susceptibility to Adverse Neurodevelopmental Outcome in Offspring of Pregnancies at Risk of Early Preterm Delivery.
American Journal Of Perinatology
Varner, Michael W MW; Costantine, Maged M MM; Jablonski, Kathleen A KA; Rouse, Dwight J DJ; Mercer, Brian M BM; Leveno, Kenneth J KJ; Reddy, Uma M UM; Buhimschi, Catalin C; Wapner, Ronald J RJ; Sorokin, Yoram Y; Thorp, John M JM; Ramin, Susan M SM; Malone, Fergal D FD; Carpenter, Marshall M; O'sullivan, Mary J MJ; Peaceman, Alan M AM; Dudley, Donald J DJ; Caritis, Steve N SN; ,
Asymmetric dimethylarginine serum levels are associated with early mortality after allogeneic stem cell transplantation.
Haematologica
Radujkovic, Aleksandar A; Dai, Hao H; Kordelas, Lambros L; Beelen, Dietrich D; Rachakonda, Sivaramakrishna P SP; Müller-Tidow, Carsten C; Kumar, Rajiv R; Dreger, Peter P; Luft, Thomas T
Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.
Scientific Reports
Li, Xue X; Song, Peige P; Timofeeva, Maria M; Meng, Xiangrui X; Rudan, Igor I; Little, Julian J; Satsangi, Jack J; Campbell, Harry H; Theodoratou, Evropi E
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: NOS2: D385D; rs1137933
Higher activity of the inducible nitric oxide synthase contributes to very early onset inflammatory bowel disease.
Clinical And Translational Gastroenterology
Dhillon, Sandeep S SS; Mastropaolo, Lucas A LA; Murchie, Ryan R; Griffiths, Christopher C; Thöni, Cornelia C; Elkadri, Abdul A; Xu, Wei W; Mack, Amanda A; Walters, Thomas T; Guo, Conghui C; Mack, David D; Huynh, Hien H; Baksh, Shairaz S; Silverberg, Mark S MS; Brumell, John H JH; Snapper, Scott B SB; Muise, Aleixo M AM
Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.
Birth Defects Research. Part B, Developmental And Reproductive Toxicology
Soldano, Karen L KL; Garrett, Melanie E ME; Cope, Heidi L HL; Rusnak, J Michael JM; Ellis, Nathen J NJ; Dunlap, Kaitlyn L KL; Speer, Marcy C MC; Gregory, Simon G SG; Ashley-Koch, Allison E AE
Using a multi-staged strategy based on machine learning and mathematical modeling to predict genotype-phenotype risk patterns in diabetic kidney disease: a prospective case-control cohort analysis.
Bmc Nephrology
Leung, Ross K K RK; Wang, Ying Y; Ma, Ronald C W RC; Luk, Andrea O Y AO; Lam, Vincent V; Ng, Maggie M; So, Wing Yee WY; Tsui, Stephen K W SK; Chan, Juliana C N JC
Association of polymorphisms in neuroprotection and oxidative stress genes and neurodevelopmental outcomes after preterm birth.
Obstetrics And Gynecology
Costantine, Maged M MM; Clark, Erin A S EA; Lai, Yinglei Y; Rouse, Dwight J DJ; Spong, Catherine Y CY; Mercer, Brian M BM; Sorokin, Yoram Y; Thorp, John M JM; Ramin, Susan M SM; Malone, Fergal D FD; Carpenter, Marshall M; Miodovnik, Menachem M; O'Sullivan, Mary J MJ; Peaceman, Alan M AM; Caritis, Steve N SN
Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration.
Annals Of Human Genetics
Ayala-Haedo, Juan A JA; Gallins, Paul J PJ; Whitehead, Patrice L PL; Schwartz, Stephen G SG; Kovach, Jaclyn L JL; Postel, Eric A EA; Agarwal, Anita A; Wang, Gaofeng G; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Scott, William K WK
Publication Date: 2010-05
Variant appearance in text: NOS2A: D385D; rs1137933
NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans.
Human Genetics
Velez, Digna Rosa DR; Hulme, William F WF; Myers, Jamie L JL; Weinberg, J Brice JB; Levesque, Marc C MC; Stryjewski, Martin E ME; Abbate, Eduardo E; Estevan, Rosa R; Patillo, Sara G SG; Gilbert, John R JR; Hamilton, Carol D CD; Scott, William K WK
Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease.
American Journal Of Respiratory And Critical Care Medicine
Roberts, Kari E KE; Fallon, Michael B MB; Krowka, Michael J MJ; Brown, Robert S RS; Trotter, James F JF; Peter, Inga I; Tighiouart, Hocine H; Knowles, James A JA; Rabinowitz, Daniel D; Benza, Raymond L RL; Badesch, David B DB; Taichman, Darren B DB; Horn, Evelyn M EM; Zacks, Steven S; Kaplowitz, Neil N; Kawut, Steven M SM; ,
A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
Stroke
Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,
Genetic variation in nitric oxide synthase 2A (NOS2A) and risk for multiple sclerosis.
Genes And Immunity
Barcellos, L F LF; Ramsay, P P PP; Caillier, S J SJ; Sawcer, S S; Haines, J J; Schmidt, S S; Pericak-Vance, M M; Compston, D A S DA; Gabatto, P P; Hauser, S L SL; Oksenberg, J R JR
A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
Bmc Genetics
Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ
Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans.
Genes And Immunity
Brassat, D D; Motsinger, A A AA; Caillier, S J SJ; Erlich, H A HA; Walker, K K; Steiner, L L LL; Cree, B A C BA; Barcellos, L F LF; Pericak-Vance, M A MA; Schmidt, S S; Gregory, S S; Hauser, S L SL; Haines, J L JL; Oksenberg, J R JR; Ritchie, M D MD
Gene-environment interaction effects on the development of immune responses in the 1st year of life.
American Journal Of Human Genetics
Hoffjan, Sabine S; Nicolae, Dan D; Ostrovnaya, Irina I; Roberg, Kathy K; Evans, Michael M; Mirel, Daniel B DB; Steiner, Lori L; Walker, Karen K; Shult, Peter P; Gangnon, Ronald E RE; Gern, James E JE; Martinez, Fernando D FD; Lemanske, Robert F RF; Ober, Carole C