Mitf and oca2
Web27 jan. 2015 · IRF4 expression levels depend on the allelic status of rs12203592. RT–qPCR analysis of IRF4 transcripts (A) in all epidermal skin samples and (B) in only light epidermal skin samples with either the rs12203592 CC-genotype (all: n = 25; lights: n = 13) or with the combinational rs12203592 CT- and TT-genotypes (n = 4) demonstrates reduced IRF4 … WebIn darkly pigmented human melanocytes carrying the rs12913832 T-allele, we detected binding of the transcription factors HLTF, LEF1, and MITF to the HERC2 rs12913832 …
Mitf and oca2
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Web14 nov. 2024 · The pigmentation gene Oculocutaneous Albinism Type II (OCA2) 27 was particularly induced in Vem-exposed cells, and its level of expression was selected as a readout for AhR β-activation ... WebRESULTS: OCA2 variants rs12913832 and rs916977 were significantly associated with time to first cSCC post-transplant. OTRs homozygous for the brown-eye alleles of rs916977 …
Web13 jan. 2024 · The microphthalmia-associated transcription factor (MITF) is a critical regulator of melanocyte development and differentiation. It also plays an important role in … Web16 dec. 2014 · OCA2 shares little homology with known chloride channels or transporters; OCA2 might be an accessory subunit of a Cl − transporter or form a Cl − channel or …
Web26 apr. 2024 · As far as the pigmentation-related genetic factors are concerned, besides MITF mutations, the alterations of MITF-regulated MC1R (melanocortin-1 receptor), SLC45A2 (solute carrier family 45 member 2) and OCA2 (oculocutaneous albinism type 2) genes, as well as those of the melanosomal TYR (tyrosinase) and TYRP1 (tyrosinase … Web1 mrt. 2024 · To evaluate overlap between TFAP2A and MITF across the genome, we compared our human TFAP2A ChIP-seq results to a set of 16,572 MITF ChIP-seq peaks …
Web12 jul. 2013 · The OCA2 gene is of particular interest, because different haplotypes are associated with pigmentary traits in Europeans and East Asians. Variants located in the …
Webmorphism of OCA2 appears to be predominantly associated with eye color, although effects on skin and hair color have also been reported (Sturm and Frudakis, 2004; Duffy et al., 2007). Unlike for the MATP and NCKX5 proteins however, the SNP responsible for pigmentation variation is not located within the protein-coding region of the OCA2 gene, but birthdays for cancer signWeb4 jan. 2014 · OCA2 has been considered to be the prime candidate to explain variation in human pigmentation, because functional inactivation of OCA2 by mutations leads … dante salon and wellness spa reviewsWebmorphism of OCA2 appears to be predominantly associated with eye color, although effects on skin and hair color have also been reported (Sturm and Frudakis, 2004; Duffy et al., … birthdays for january 9Web5 apr. 2024 · The MC1R protein in melanocytes regulates the production of MITF protein, which in turn regulates the expression of tyrosinase; Key investigations: Orthoptic ... (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. Hum Genet. 1997;99(4):523-527. Jump to top. Updated on April 5, 2024 Was this ... birthdays for pala casino buffetWebNX_Q04671 - OCA2 - P protein - Function. ... LEF1, and MITF to the HERC2 rs12913832 enhancer, and a long-range chromatin loop between this enhancer and the OCA2 … birthdays for january 3Web3 jun. 2024 · Rare variants of MC1R and MITF confer a moderate risk of melanoma and finally, frequent variants of melanocortin 1 receptor (MC1R), OCA2, ASIP, TYR, ... OCA1 and OCA2 variants account for 80% of OCA cases and are the most strongly associated with skin cancer development. birthdays for october 29http://www.cancerindex.org/geneweb/OCA2.htm dante salon and wellness spa fairfax