Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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Ellison EL, Zhou P, Chu YH, Hermanson P, Gomez-Cano L, Myers ZA, Abnave A, Gray J, Hirsch CN, Grotewold E, Springer NM. Transcriptome profiling of maize transcription factor mutants to probe gene regulatory network predictions. G3 (Bethesda). 2025 01 08; 15(1).
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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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Chery DR, Han B, Zhou Y, Wang C, Adams SM, Chandrasekaran P, Kwok B, Heo SJ, Enomoto-Iwamoto M, Lu XL, Kong D, Iozzo RV, Birk DE, Mauck RL, Han L. Decorin regulates cartilage pericellular matrix micromechanobiology. Matrix Biol. 2021 02; 96:1-17.
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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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de Bono J, Mateo J, Fizazi K, Saad F, Shore N, Sandhu S, Chi KN, Sartor O, Agarwal N, Olmos D, Thiery-Vuillemin A, Twardowski P, Mehra N, Goessl C, Kang J, Burgents J, Wu W, Kohlmann A, Adelman CA, Hussain M. Olaparib for Metastatic Castration-Resistant Prostate Cancer. N Engl J Med. 2020 05 28; 382(22):2091-2102.
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Vahidnezhad H, Youssefian L, Daneshpazhooh M, Mahmoudi H, Kariminejad A, Fischer J, Christiansen J, Schneider H, Guy A, Liu L, McGrath JA, Has C, Uitto J. Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out". Matrix Biol. 2019 10; 83:48-59.
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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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Nevler A, Muller AJ, Cozzitorto JA, Goetz A, Winter JM, Yeo TP, Lavu H, Yeo CJ, Prendergast GC, Brody JR. A Sub-Type of Familial Pancreatic Cancer:?Evidence and Implications of Loss-of-Function Polymorphisms in Indoleamine-2,3-Dioxygenase-2. J Am Coll Surg. 2018 04; 226(4):596-603.
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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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Hasan S, Balobaid A, Grottesi A, Dabbagh O, Cenciarini M, Rawashdeh R, Al-Sagheir A, Bove C, Macchioni L, Pessia M, Al-Owain M, D'Adamo MC. Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay. J Neurophysiol. 2017 10 01; 118(4):2402-2411.