Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects
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Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb developmentA step closer toward therapies for p63-related disordersGenomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutationsSp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb developmentAltered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisHeterogeneous conservation of Dlx paralog co-expression in jawed vertebratesMapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.Phenotypic subregions within the split-hand/foot malformation 1 locus.Claudin-1 is a p63 target gene with a crucial role in epithelial developmentGenome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray.p63 in skin development and ectodermal dysplasias.Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.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.Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disordersp63 is a suppressor of tumorigenesis and metastasis interacting with mutant p53.Special AT-rich binding protein-2 (SATB2) differentially affects disease-causing p63 mutant proteins.14-3-3σ and p63 play opposing roles in epidermal tumorigenesis.Different regulation of limb development by p63 transcript variantsThe apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6-/- shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligandImpaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET.Treasure or artifact: a decade of p63 research speaks for itself.Split-hand/foot malformation - molecular cause and implications in genetic counseling.Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.Multifactorial ERβ and NOTCH1 control of squamous differentiation and cancer.Genetic and pathologic aspects of retinoic acid-induced limb malformations in the mouse.A symphony of regulations centered on p63 to control development of ectoderm-derived structures.Central and ulnar cleft hands: a review of concurrent deformities in a series of 47 patients and their pathogenesis.A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.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.S100A1 and S100B: Calcium Sensors at the Cross-Roads of Multiple Chondrogenic Pathways.Limb development: a paradigm of gene regulation.EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.A dominant mutation etiologic for human tricho-dento-osseous syndrome impairs the ability of DLX3 to downregulate ΔNp63α.A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias.
P2860
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P2860
Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects
description
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2008
@ast
im April 2008 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2008/04/01)
@sk
vědecký článek publikovaný v roce 2008
@cs
wetenschappelijk artikel (gepubliceerd op 2008/04/01)
@nl
наукова стаття, опублікована у квітні 2008
@uk
مقالة علمية (نشرت في أبريل 2008)
@ar
name
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@ast
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@en
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@nl
type
label
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@ast
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@en
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@nl
prefLabel
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@ast
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@en
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@nl
P2093
P50
P921
P3181
P356
P1433
P1476
Regulation of Dlx5 and Dlx6 ge ...... d SHFM congenital limb defects
@en
P2093
Alea A Mills
Anna Chiarelli
Elvin Garcia
Giorgio R Merlo
Luisa Guerrini
Maria I Morasso
Nadia Lo Iacono
P304
P3181
P356
10.1242/DEV.011759
P407
P577
2008-04-01T00:00:00Z