Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Barnada SM, Giner de Gracia A, Morenilla-Palao C, L?pez-Cascales MT, Scopa C, Waltrich FJ, Mikkers HMM, Cicardi ME, Karlin J, Trotti D, Peterson KA, Brugmann SA, Santen GWE, McMahon SB, Herrera E, Trizzino M. ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification. Am J Hum Genet. 2024 10 03; 111(10):2232-2252.
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Tanner A, Sagoo MS, Mahroo OA, Pulido JS. Genetic analysis of ocular tumour-associated genes using large genomic datasets: insights into selection constraints and variant representation in the population. BMJ Open Ophthalmol. 2024 02 21; 9(1).
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Ghahremani S, Kanwal A, Pettinato A, Ladha F, Legere N, Thakar K, Zhu Y, Tjong H, Wilderman A, Stump WT, Greenberg L, Greenberg MJ, Cotney J, Wei CL, Hinson JT. CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by TTN Truncation Variants. Circulation. 2024 Apr 16; 149(16):1285-1297.
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Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. Am J Hum Genet. 2023 12 07; 110(12):2103-2111.
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Shi Y, Lin S, Staats KA, Li Y, Chang WH, Hung ST, Hendricks E, Linares GR, Wang Y, Son EY, Wen X, Kisler K, Wilkinson B, Menendez L, Sugawara T, Woolwine P, Huang M, Cowan MJ, Ge B, Koutsodendris N, Sandor KP, Komberg J, Vangoor VR, Senthilkumar K, Hennes V, Seah C, Nelson AR, Cheng TY, Lee SJ, August PR, Chen JA, Wisniewski N, Hanson-Smith V, Belgard TG, Zhang A, Coba M, Grunseich C, Ward ME, van den Berg LH, Pasterkamp RJ, Trotti D, Zlokovic BV, Ichida JK. Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. Nat Med. 2018 03; 24(3):313-325.
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Peri S, Caretti E, Tricarico R, Devarajan K, Cheung M, Sementino E, Menges CW, Nicolas E, Vanderveer LA, Howard S, Conrad P, Crowell JA, Campbell KS, Ross EA, Godwin AK, Yeung AT, Clapper ML, Uzzo RG, Henske EP, Ricketts CJ, Vocke CD, Linehan WM, Testa JR, Bellacosa A, Kopelovich L, Knudson AG. Haploinsufficiency in tumor predisposition syndromes: altered genomic transcription in morphologically normal cells heterozygous for VHL or TSC mutation. Oncotarget. 2017 Mar 14; 8(11):17628-17642.
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Grieb BC, Boyd K, Mitra R, Eischen CM. Haploinsufficiency of the Myc regulator Mtbp extends survival and delays tumor development in aging mice. Aging (Albany NY). 2016 10 30; 8(10):2590-2602.
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Wen X, Westergard T, Pasinelli P, Trotti D. Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. Neurosci Lett. 2017 01 01; 636:16-26.
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James AW, Shen J, Zhang X, Asatrian G, Goyal R, Kwak JH, Jiang L, Bengs B, Culiat CT, Turner AS, Seim Iii HB, Wu BM, Lyons K, Adams JS, Ting K, Soo C. NELL-1 in the treatment of osteoporotic bone loss. Nat Commun. 2015 Jun 17; 6:7362.
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Chun S, Westmoreland JJ, Bayazitov IT, Eddins D, Pani AK, Smeyne RJ, Yu J, Blundon JA, Zakharenko SS. Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models. Science. 2014 Jun 06; 344(6188):1178-82.