Translate

Δευτέρα 24 Ιουνίου 2019

Pigment Cell & Melanoma


Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma
Abstract Approximately 1‐2% of cutaneous melanoma (CM) is classified as strongly familial. We sought to investigate unexplained CM predisposition in families negative for the known susceptibility genes using next generation sequencing of affected individuals. Segregation of germline variants of interest within families was assessed by Sanger sequencing. Several heterozygous variants in oculocutaneous albinism (OCA) genes: TYR, OCA2, TYRP1 and SLC45A2, were present in our CM cohort. OCA is a group...
Wiley: Pigment Cell & Melanoma Research: Table of Contents
15h
A novel LC‐MS/MS method to quantify eumelanin and pheomelanin and their relation to UVR sensitivity − A study on human skin biopsies
Summary Melanin in the skin can be divided into eumelanin and pheomelanin subtypes. Simultaneous quantification of these subtypes could clarify their relation to skin type and skin cancer development. We describe a novel, sensitive liquid‐chromatography tandem mass spectrometry method to quantify two eumelanin markers, pyrrole‐2,3,5‐tricarboxylic acid (PTCA) and pyrrole‐2,3‐dicarboxylic acid (PDCA), and two pheomelanin markers, thiazole‐4,5‐dicarboxylic acid (TDCA) and thiazole‐2,4,5 tricarboxylic...
Wiley: Pigment Cell & Melanoma Research: Table of Contents
15h

Δεν υπάρχουν σχόλια:

Δημοσίευση σχολίου

Αρχειοθήκη ιστολογίου

Translate