Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence forDYNC1I1exonic enhancers ofDLX5/6expression in humans-Reference-Cited by-同舟云学术

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence forDYNC1I1exonic enhancers ofDLX5/6expression in humans

Published:2014-01-23 Issue:4 Volume:51 Page:264-267
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Lango Allen Hana,Caswell Richard,Xie Weijia,Xu Xiao,Wragg Christopher,Turnpenny Peter D,Turner Claire L S,Weedon Michael N,Ellard Sian

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development;Robledo;Genes Dev,2002

2. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation;Shamseldin;J Med Genet,2012

3. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus;Kouwenhoven;PLoS Genet,2010

4. Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects;Lo Iacono;Development,2008

5. Coding exons function as tissue-specific enhancers of nearby genes;Birnbaum;Genome Res,2012

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