Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development
about
A symphony of inner ear developmental control genes.Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammalsSem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiaeDlx genes, p63, and ectodermal dysplasias.Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13Long noncoding RNA in genome regulation: prospects and mechanismsA 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactylyThe Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal developmentSEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeastFunctional inactivation of the conserved Sem1p in yeast by intrabodies.Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb developmentDSS1 is required for the stability of BRCA2Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional functionLimb malformations and the human HOX genesGenomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63High density oligonucleotide array analysis of interferon- alpha2a sensitivity and transcriptional response in melanoma cellsMouse model of split hand/foot malformation type IDSS1 is required for RAD51 focus formation and genomic stability in mammalian cellsHomologs of breast cancer genes in plantsReassessing the Dlx code: the genetic regulation of branchial arch skeletal pattern and developmentDrosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Phenotypic subregions within the split-hand/foot malformation 1 locus.Laser capture microdissection-based in vivo genomic profiling of wound keratinocytes identifies similarities and differences to squamous cell carcinomaBrh2-Dss1 interplay enables properly controlled recombination in Ustilago maydis.C. elegans dss-1 is functionally conserved and required for oogenesis and larval growth.Designed proteins to modulate cellular networksGenome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.Genome-wide expression patterns in physiological cardiac hypertrophy.A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.Long-range control of gene expression: emerging mechanisms and disruption in disease.Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.P63 gene mutations and human developmental syndromes.Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.Distal limb malformations: underlying mechanisms and clinical associations.
P2860
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P2860
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development
description
1996 nî lūn-bûn
@nan
1996 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Characterization of the split ...... ession during limb development
@ast
Characterization of the split ...... ession during limb development
@en
Characterization of the split ...... ession during limb development
@nl
type
label
Characterization of the split ...... ession during limb development
@ast
Characterization of the split ...... ession during limb development
@en
Characterization of the split ...... ession during limb development
@nl
prefLabel
Characterization of the split ...... ession during limb development
@ast
Characterization of the split ...... ession during limb development
@en
Characterization of the split ...... ession during limb development
@nl
P2093
P356
P1476
Characterization of the split ...... ession during limb development
@en
P2093
J M Cobben
J M Rommens
M A Crackower
S W Scherer
P356
10.1093/HMG/5.5.571
P407
P577
1996-05-01T00:00:00Z