Below are the most recent publications written about "Genes, Dominant" by people in Profiles.
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Mano F, LoBue SA, Olsen TW, Marmorstein AD, Pulido JS. A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. Ophthalmic Genet. 2018 12; 39(6):749-753.
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Vasilevskaya IA, Selvakumaran M, Hierro LC, Goldstein SR, Winkler JD, O'Dwyer PJ. Inhibition of JNK Sensitizes Hypoxic Colon Cancer Cells to DNA-Damaging Agents. Clin Cancer Res. 2015 Sep 15; 21(18):4143-52.
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Chou CM, Nelson C, Tarl? SA, Pribila JT, Bardakjian T, Woods S, Schneider A, Glaser T. Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. Cell. 2015 Apr 23; 161(3):634-646.
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Spessott WA, Sanmillan ML, McCormick ME, Patel N, Villanueva J, Zhang K, Nichols KE, Giraudo CG. Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. Blood. 2015 Mar 05; 125(10):1566-77.
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Huttenlocher J, Kr?ger R, Capetian P, Lohmann K, Brockmann K, Csoti I, Klein C, Berg D, Gasser T, Bonin M, Riess O, Bauer P. EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. J Med Genet. 2015 Jan; 52(1):37-41.
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Arcot Sadagopan K, Battista R, Keep RB, Capasso JE, Levin AV. Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son. Ophthalmic Genet. 2015 Jun; 36(2):156-9.
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Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2013 Aug 8; 93(2):330-5.
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Uitto J. In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive. Acta Derm Venereol. 2011 May; 91(3):259-61.
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Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-H?bsch T, W?llner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Sch?ls L, Brice A. Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry. 2010 Nov; 81(11):1229-32.
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Schlipf NA, Beetz C, Sch?le R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Sch?ls L. A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). Eur J Hum Genet. 2010 Sep; 18(9):1065-7.