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Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.
Feng Y, Xie N, Inoue F, Fan S, Saskin J, Zhang C, Zhang F, Hansen MEB, Nyambo T, Mpoloka SW, Mokone GG, Fokunang C, Belay G, Njamnshi AK, Marks MS, Oancea E, Ahituv N, Tishkoff SA. Feng Y, et al. Among authors: marks ms. Nat Genet. 2024 Feb;56(2):258-272. doi: 10.1038/s41588-023-01626-1. Epub 2024 Jan 10. Nat Genet. 2024. PMID: 38200130 Free PMC article.
Loci associated with skin pigmentation identified in African populations.
Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program; Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA. Crawford NG, et al. Among authors: marks ms. Science. 2017 Nov 17;358(6365):eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12. Science. 2017. PMID: 29025994 Free PMC article.
An intracellular anion channel critical for pigmentation.
Bellono NW, Escobar IE, Lefkovith AJ, Marks MS, Oancea E. Bellono NW, et al. Among authors: marks ms. Elife. 2014 Dec 16;3:e04543. doi: 10.7554/eLife.04543. Elife. 2014. PMID: 25513726 Free PMC article.
Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.
Hellström AR, Watt B, Fard SS, Tenza D, Mannström P, Narfström K, Ekesten B, Ito S, Wakamatsu K, Larsson J, Ulfendahl M, Kullander K, Raposo G, Kerje S, Hallböök F, Marks MS, Andersson L. Hellström AR, et al. Among authors: marks ms. PLoS Genet. 2011 Sep;7(9):e1002285. doi: 10.1371/journal.pgen.1002285. Epub 2011 Sep 15. PLoS Genet. 2011. PMID: 21949658 Free PMC article.
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B. Pennamen P, et al. Among authors: marks ms. Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565547 Free PMC article.
155 results