Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Coding exons function as tissue-specific enhancers of nearby genes

(2012) Ramon Y. Birnbaum et al.   GENOME RESEARCH

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

(2012) Atsuo Kikuchi et al.   MOLECULAR GENETICS AND METABOLISM

Downregulation of Dlx5 and Dlx6 expression by Hand2 is essential for initiation of tongue morphogenesis

(2011) F. Barron et al.   DEVELOPMENT

cis-regulatory mutations are a genetic cause of human limb malformations

(2011) Julia E. VanderMeer et al.   DEVELOPMENTAL DYNAMICS

Identification of a novelDLX5mutation in a family with autosomal recessive split hand and foot malformation

(2011) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1

(2010) Jean-Christophe Marinoni et al.   CLINICAL GENETICS

An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain

(2010) L. Poitras et al.   DEVELOPMENT

Depletion of DSS1 protein disables homologous recombinational repair in human cells

(2010) Colleen N. Kristensen et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

(2010) Evelyn N. Kouwenhoven et al.   PLoS Genetics

A systematic approach to identify functional motifs within vertebrate developmental enhancers

(2009) Qiang Li et al.   DEVELOPMENTAL BIOLOGY

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

(2009) Anneke T van Silfhout et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects

(2008) N. Lo Iacono et al.   DEVELOPMENT

Dlx genes pattern mammalian jaw primordium by regulating both lower jaw-specific and upper jaw-specific genetic programs

(2008) J. Jeong et al.   DEVELOPMENT

Characterization of a distinct subpopulation of striatal projection neurons expressing the Dlx genes in the basal ganglia through the activity of the I56ii enhancer

(2008) Noël Ghanem et al.   DEVELOPMENTAL BIOLOGY

Systematic human/zebrafish comparative identification of cis-regulatory activity around vertebrate developmental transcription factor genes

(2008) Pavla Navratilova et al.   DEVELOPMENTAL BIOLOGY

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene

(2008) C. Bonnet et al.   JOURNAL OF HUMAN GENETICS

Shadow Enhancers as a Source of Evolutionary Novelty

(2008) J.-W. Hong et al.   SCIENCE

Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b

(2007) D. M. McGaughey et al.   GENOME RESEARCH