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
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
MS4A2-rs573790 Is Associated With Aspirin-Exacerbated Respiratory Disease: Replicative Study Using a Candidate Gene Strategy.
Frontiers In Genetics
Pavón-Romero, Gandhi F GF; Pérez-Rubio, Gloria G; Ramírez-Jiménez, Fernando F; Ambrocio-Ortiz, Enrique E; Bañuelos-Ortiz, Elisé E; Alvarado-Franco, Norma N; Xochipa-Ruiz, Karen E KE; Hernández-Juárez, Elizabeth E; Flores-García, Beatriz A BA; Camarena, Ángel E ÁE; Terán, Luis M LM; Falfán-Valencia, Ramcés R
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Influence of angiotensin converting enzyme (ACE) gene rs4362 polymorphism on the progression of kidney failure in patients with autosomal dominant polycystic kidney disease (ADPKD).
The Indian Journal Of Medical Research
Ramanathan, Gnanasambandan G; Ghosh, Santu S; Elumalai, Ramprasad R; Periyasamy, Soundararajan S; Lakkakula, Bhaskar V K S BV
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
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
A multi-center study of ACE and the risk of late-onset Alzheimer's disease.
Journal Of Alzheimer'S Disease : Jad
Belbin, Olivia O; Brown, Kristelle K; Shi, Hui H; Medway, Christopher C; Abraham, Richard R; Passmore, Peter P; Mann, David D; Smith, A David AD; Holmes, Clive C; McGuinness, Bernadette B; Craig, David D; Warden, Donald D; Heun, Reinhard R; Kölsch, Heike H; Love, Seth S; Kalsheker, Noor N; Williams, Julie J; Owen, Michael J MJ; Carrasquillo, Minerva M; Younkin, Steven S; Morgan, Kevin K; Kehoe, Patrick G PG
Genome-wide and follow-up studies identify CEP68 gene variants associated with risk of aspirin-intolerant asthma.
Plos One
Kim, Jeong-Hyun JH; Park, Byung-Lae BL; Cheong, Hyun Sub HS; Bae, Joon Seol JS; Park, Jong Sook JS; Jang, An Soo AS; Uh, Soo-Taek ST; Choi, Jae-Sung JS; Kim, Yong-Hoon YH; Kim, Mi-Kyeong MK; Choi, Inseon S IS; Cho, Sang Heon SH; Choi, Byoung Whui BW; Park, Choon-Sik CS; Shin, Hyoung Doo HD
Polymorphisms in the ACE and ADRB2 genes and risks of aging-associated phenotypes: the case of myocardial infarction.
Rejuvenation Research
Kulminski, Alexander M AM; Culminskaya, Irina V IV; Ukraintseva, Svetlana V SV; Arbeev, Konstantin G KG; Akushevich, Igor I; Land, Kenneth C KC; Yashin, Anatoli I AI
Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.
Plos One
Nesterovitch, Andrew B AB; Hogarth, Kyle D KD; Adarichev, Vyacheslav A VA; Vinokour, Elena I EI; Schwartz, David E DE; Solway, Julian J; Danilov, Sergei M SM
Promoter polymorphisms in ACE (angiotensin I-converting enzyme) associated with clinical outcomes in hypertension.
Clinical Pharmacology And Therapeutics
Johnson, A D AD; Gong, Y Y; Wang, D D; Langaee, T Y TY; Shin, J J; Cooper-Dehoff, R M RM; Schork, N J NJ; Binkley, P P; Pepine, C J CJ; Johnson, J A JA; Sadee, W W
Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
Pharmacogenetics And Genomics
Johnson, Andrew D AD; Zhang, Ying Y; Papp, Audrey C AC; Pinsonneault, Julia K JK; Lim, Jeong-Eun JE; Saffen, David D; Dai, Zunyan Z; Wang, Danxin D; Sadée, Wolfgang W