Below are the most recent publications written about "Genes, Dominant" by people in Profiles.
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Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfu? A, K?lbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, T?pf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, H?ke A, Brown RH, Lee CH, Hornemann T, Dunn TM, B?nnemann CG. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nat Med. 2021 Jul; 27(7):1197-1204.
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Parenti I, Lehalle D, Nava C, Torti E, Leit?o E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Hum Genet. 2021 Jul; 140(7):1109-1120.
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Parhad SS, Yu T, Zhang G, Rice NP, Weng Z, Theurkauf WE. Adaptive Evolution Targets a piRNA Precursor Transcription Network. Cell Rep. 2020 02 25; 30(8):2672-2685.e5.
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Ampuero E, Jury N, H?rtel S, Marzolo MP, van Zundert B. Interfering of the Reelin/ApoER2/PSD95 Signaling Axis Reactivates Dendritogenesis of Mature Hippocampal Neurons. J Cell Physiol. 2017 05; 232(5):1187-1199.
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Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. Am J Med Genet A. 2016 12; 170(12):3313-3318.
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Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Kr?ger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet. 2015 Sep 03; 97(3):483-92.
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Neukomm LJ, Burdett TC, Gonzalez MA, Z?chner S, Freeman MR. Rapid in vivo forward genetic approach for identifying axon death genes in Drosophila. Proc Natl Acad Sci U S A. 2014 Jul 08; 111(27):9965-70.
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Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, Mahadevan J, Peltonen S, Huopio H, Nuutila P, Narisu N, Goldfeder RL, Stitzel ML, Lu S, Boehnke M, Urano F, Collins FS, Laakso M. Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation. Diabetes. 2013 Nov; 62(11):3943-50.
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Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KM, Lambright DG, Lim ET, Daly MJ, Gabriel S, J?ppner H. Germline mutations affecting Ga11 in hypoparathyroidism. N Engl J Med. 2013 Jun 27; 368(26):2532-4.
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Thompson IR, Ciccone NA, Xu S, Zaytseva S, Carroll RS, Kaiser UB. GnRH pulse frequency-dependent stimulation of FSH? transcription is mediated via activation of PKA and CREB. Mol Endocrinol. 2013 Apr; 27(4):606-18.