A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia
about
Keeping chromatin quiet: how nucleosome remodeling restores heterochromatin after replicationSMARCAD1 is an ATP-dependent stimulator of nucleosomal H2A acetylation via CBP, resulting in transcriptional regulationAcropigmentation of Kitamura with immigration delay disease: A rare entity.Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides.Analysis of two candidate genes for Basan syndromeMutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes
P2860
Q27027704-272D0B2B-B461-44CF-A321-282A060AE1B1Q38541649-A7080611-09A0-435E-BEDC-39033AB825F8Q40916739-C6C0344B-4F84-46F3-A849-D15F9AA515D7Q41691428-8F880B6E-CBFF-4D36-A803-EB930E91F096Q42177704-5BAA4924-017F-43C9-8881-B4D480757053Q55671572-99944429-431D-462C-8494-58717146B4F9Q57755114-CB9152EE-1DFC-4B58-A16D-A89421247CD2
P2860
A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@ast
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@en
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@nl
type
label
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@ast
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@en
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@nl
prefLabel
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@ast
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@en
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@nl
P2093
P2860
P1476
A mutation in a skin-specific ...... somal-dominant adermatoglyphia
@en
P2093
Dana Fuchs-Telem
Eli Sprecher
Janna Nousbeck
Mor Pavlovsky
Ofer Sarig
Peter Itin
Shlomit Fenig
P2860
P356
10.1016/J.AJHG.2011.07.004
P407
P577
2011-08-12T00:00:00Z