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Page 1
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.
Kumar S, Borisov O, Maj C, Ralser DJ, Humbatova A, Hanneken S, Schmieder A, Groß J, Maintz L, Heineke A, Knuever J, Fagerberg C, Parmentier L, Anemüller W, Oji V, Tantcheva-Poór I, Fölster-Holst R, Wenzel J, Krawitz PM, Frank J, Betz RC. Kumar S, et al. Among authors: humbatova a. J Invest Dermatol. 2024 Jan;144(1):181-184. doi: 10.1016/j.jid.2023.04.036. Epub 2023 Jul 17. J Invest Dermatol. 2024. PMID: 37468035 Free article. No abstract available.
Additional causal SNRPE mutations in hereditary hypotrichosis simplex.
Pan C, Humbatova A, Zheng L, Cesarato N, Grimm C, Chen F, Blaumeiser B, Catalán-Lambán A, Patiño-García A, Fischer U, Cheng R, Li Y, Yu X, Yao Z, Li M, Betz RC. Pan C, et al. Among authors: humbatova a. Br J Dermatol. 2021 Aug;185(2):439-441. doi: 10.1111/bjd.20089. Epub 2021 May 25. Br J Dermatol. 2021. PMID: 33792916 No abstract available.
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.
Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Tareen AS, Wolf S, Panezai MA, Thiele H, Wali A, Fölster-Holst R, Basit S, Ayub M, Betz RC. Uddin SA, et al. Among authors: humbatova a. Acta Derm Venereol. 2020 Sep 30;100(16):adv00275. doi: 10.2340/00015555-3634. Acta Derm Venereol. 2020. PMID: 32926178 Free PMC article.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortüm F, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Hauck F, Girisha KM, Calza AM, Bottani A, Altmüller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z. Wang H, et al. Among authors: humbatova a. Am J Hum Genet. 2020 Jul 2;107(1):34-45. doi: 10.1016/j.ajhg.2020.05.006. Epub 2020 Jun 3. Am J Hum Genet. 2020. PMID: 32497488 Free PMC article.