Below are the most recent publications written about "RNA Splice Sites" by people in Profiles.
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Hou PC, Tu WT, Chen PC, Guevara BEK, Yen YF, Huang HY, Lee JY, Tang MJ, Kuo PL, Mcgrath JA, Hsu CK. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa. Eur J Dermatol. 2021 Apr 01; 31(2):267-269.
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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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Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. Matrix Biol. 2018 03; 66:22-33.
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Gripp KW, Baker L, Kandula V, Piatt J, Walter A, Chen Z, Messiaen L. Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager. Clin Genet. 2017 Nov; 92(5):540-543.
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Lee JYW, Eldeeb MS, Hsu CK, Saito R, Abouzeid SA, McGrath JA. Further evidence for genotype-phenotype disparity in Griscelli syndrome. Br J Dermatol. 2017 04; 176(4):1086-1089.
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Saito R, Boyce A, Hsu CK, Rashidghamat E, Hide M, Wedgeworth EK, Flohr C, Mellerio JE, McGrath JA. Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing. Br J Dermatol. 2017 Jan; 176(1):249-251.
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Hsu CK, Liu L, Can PK, Kocat?rk E, McMillan JR, G?ng?r S, H?rdogan ?, Sargan A, Degirmentepe EN, Lee JY, Simpson MA, McGrath JA. Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. J Dermatol Sci. 2016 Nov; 84(2):210-212.
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Simon LM, Chen ES, Edelstein LC, Kong X, Bhatlekar S, Rigoutsos I, Bray PF, Shaw CA. Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2. Am J Hum Genet. 2016 05 05; 98(5):883-897.
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Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family. Br J Dermatol. 2015; 172(5):1407-11.
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Londin ER, Adijanto J, Philp N, Novelli A, Vitale E, Perria C, Serra G, Alesi V, Surrey S, Fortina P. Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. Am J Med Genet A. 2014 Sep; 164A(9):2294-9.