about
Dlx genes, p63, and ectodermal dysplasias.Human chromosome 7: DNA sequence and biologySplit hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb developmentDlx5 Is a cell autonomous regulator of chondrocyte hypertrophy in mice and functionally substitutes for Dlx6 during endochondral ossificationReassessing the Dlx code: the genetic regulation of branchial arch skeletal pattern and developmentDlx5 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.C. elegans dss-1 is functionally conserved and required for oogenesis and larval growth.Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)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.p63 in skin development and ectodermal dysplasias.Transitory expression of Dlx5 and Dlx6 in maxillary arch epithelial precursors is essential for upper jaw morphogenesis.BMP-mediated functional cooperation between Dlx5;Dlx6 and Msx1;Msx2 during mammalian limb developmentThe dlx5a/dlx6a genes play essential roles in the early development of zebrafish median fin and pectoral structures.Dlx5 and Dlx6 control uterine adenogenesis during post-natal maturation: possible consequences for endometriosis.Evf2 lncRNA/BRG1/DLX1 interactions reveal RNA-dependent inhibition of chromatin remodeling.The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6-/- shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligandPhenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafishSplit Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.Dlx genes pattern mammalian jaw primordium by regulating both lower jaw-specific and upper jaw-specific genetic programsMouse R-spondin2 is required for apical ectodermal ridge maintenance in the hindlimb.Split-hand/foot malformation - molecular cause and implications in genetic counseling.A symphony of regulations centered on p63 to control development of ectoderm-derived structures.The molecular basis of human congenital limb malformations.FGF8, c-Abl and p300 participate in a pathway that controls stability and function of the ΔNp63α protein.DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.Identification of direct downstream targets of Dlx5 during early inner ear development.A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.A high-throughput screen to identify enhancers of ADAR-mediated RNA-editing.Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice.A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
P2860
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P2860
description
2002 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im Juni 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2002/06/01)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd op 2002/06/01)
@nl
наукова стаття, опублікована в червні 2002
@uk
مقالة علمية (نشرت في يونيو 2002)
@ar
name
Mouse model of split hand/foot malformation type I
@ast
Mouse model of split hand/foot malformation type I
@en
Mouse model of split hand/foot malformation type I
@nl
type
label
Mouse model of split hand/foot malformation type I
@ast
Mouse model of split hand/foot malformation type I
@en
Mouse model of split hand/foot malformation type I
@nl
prefLabel
Mouse model of split hand/foot malformation type I
@ast
Mouse model of split hand/foot malformation type I
@en
Mouse model of split hand/foot malformation type I
@nl
P2093
P2860
P356
P1433
P1476
Mouse model of split hand/foot malformation type I
@en
P2093
Annemiek Beverdam
Francesca Genova
Giorgio R. Merlo
Giovanni Levi
Giulio L. Palmisano
Laura Paleari
Ottavia Barbieri
Stefano Mantero
P2860
P304
P356
10.1002/GENE.10098
P577
2002-06-01T00:00:00Z