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DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
Hozhabrpour A, Mojbafan M, Palizban F, Vahidnezhad F, Talebi S, Amani M, Garshasbi M, Naghavi A, Khalesi R, Mansouri P, Sotoudeh S, Mahmoudi H, Varghaei A, Daneshpazhooh M, Karimi F, Zeinali S, Kalamati E, Uitto J, Youssefian L, Vahidnezhad H. Hozhabrpour A, et al. Among authors: uitto j. DNA Repair (Amst). 2024 Apr;136:103633. doi: 10.1016/j.dnarep.2024.103633. Epub 2024 Feb 29. DNA Repair (Amst). 2024. PMID: 38422792
Whole transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections.
Saeidian AH, Youssefian L, Naji M, Mahmoudi H, Barnada SM, Huang C, Naghipoor K, Hozhabrpour A, Park JS, Manzo Margiotta F, Vahidnezhad F, Saffarian Z, Kamyab-Hesari K, Tolouei M, Faraji N, Azimi SZ, Namdari G, Mansouri P, Casanova JL, Béziat V, Jouanguy E, Uitto J, Vahidnezhad H. Saeidian AH, et al. Among authors: uitto j. JCI Insight. 2023 Mar 8;8(5):e162558. doi: 10.1172/jci.insight.162558. JCI Insight. 2023. PMID: 36602881 Free PMC article.
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.
Ogishi M, Yang R, Rodriguez R, Golec DP, Martin E, Philippot Q, Bohlen J, Pelham SJ, Arias AA, Khan T, Ata M, Al Ali F, Rozenberg F, Kong XF, Chrabieh M, Laine C, Lei WT, Han JE, Seeleuthner Y, Kaul Z, Jouanguy E, Béziat V, Youssefian L, Vahidnezhad H, Rao VK, Neven B, Fieschi C, Mansouri D, Shahrooei M, Pekcan S, Alkan G, Emiroğlu M, Tokgöz H, Uitto J, Hauck F, Bustamante J, Abel L, Keles S, Parvaneh N, Marr N, Schwartzberg PL, Latour S, Casanova JL, Boisson-Dupuis S. Ogishi M, et al. Among authors: uitto j. J Exp Med. 2023 Jan 2;220(1):e20220484. doi: 10.1084/jem.20220484. Epub 2022 Nov 3. J Exp Med. 2023. PMID: 36326697 Free PMC article.
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T. Szeri F, et al. Among authors: uitto j. Hum Mutat. 2022 Dec;43(12):1872-1881. doi: 10.1002/humu.24498. Epub 2022 Nov 15. Hum Mutat. 2022. PMID: 36317459 Free PMC article.
977 results