Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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Ohnishi T, Tran V, Sao K, Ramteke P, Querido W, Barve RA, van de Wetering K, Risbud MV. Loss of function mutation in Ank causes aberrant mineralization and acquisition of osteoblast-like-phenotype by the cells of the intervertebral disc. Cell Death Dis. 2023 07 19; 14(7):447.
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Atreya MR, Cvijanovich NZ, Fitzgerald JC, Weiss SL, Bigham MT, Jain PN, Schwarz AJ, Lutfi R, Nowak J, Allen GL, Thomas NJ, Grunwell JR, Baines T, Quasney M, Haileselassie B, Alder MN, Lahni P, Ripberger S, Ekunwe A, Campbell KR, Walley KR, Standage SW. Detrimental effects of PCSK9 loss-of-function in the pediatric host response to sepsis are mediated through independent influence on Angiopoietin-1. Crit Care. 2023 06 26; 27(1):250.
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Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alf?ldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
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Doolan BJ, Gomaa NS, Fawzy MM, Dogheim NN, Liu L, Mellerio JE, Onoufriadis A, McGrath JA. Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis. Exp Dermatol. 2020 06; 29(6):520-530.
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Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain. 2020 04 01; 143(4):e31.
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Hengel H, Bosso-Lef?vre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot ?, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Sch?le R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Sch?ls L, Reversade B. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 01 30; 11(1):595.
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Merlini L, Sabatelli P, Antoniel M, Carinci V, Niro F, Monetti G, Torella A, Giugliano T, Faldini C, Nigro V. Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. Skelet Muscle. 2019 05 27; 9(1):14.
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Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet. 2019 02 15; 28(4):525-538.
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Lee JYW, Farag A, Tawdy A, Liu L, Michael M, Rashidghamat E, Aristodemou S, Hsu CK, Simpson MA, Parsons M, McGrath JA. Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. J Dermatol Sci. 2018 Feb; 89(2):198-201.
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Xu M, Horrell J, Snitow M, Cui J, Gochnauer H, Syrett CM, Kallish S, Seykora JT, Liu F, Gaillard D, Katz JP, Kaestner KH, Levin B, Mansfield C, Douglas JE, Cowart BJ, Tordoff M, Liu F, Zhu X, Barlow LA, Rubin AI, McGrath JA, Morrisey EE, Chu EY, Millar SE. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. Nat Commun. 2017 06 07; 8:15397.