Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
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ALX4 dysfunction disrupts craniofacial and epidermal developmentEnlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotypeDorsoventral patterning of the mouse coat by Tbx15Modeling anterior development in mice: diet as modulator of risk for neural tube defectsClinical and molecular analysis of nine families with Adams-Oliver syndromeConstruction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndromeThe significance and scope of evolutionary developmental biology: a vision for the 21st centuryMosaic structural variation in children with developmental disordersDerivation of the mammalian skull vaultMutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.Genome-wide detection of copy number variation in Chinese indigenous sheep using an ovine high-density 600 K SNP array.Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.Missense mutations of human homeoboxes: A review.Initiation of early osteoblast differentiation events through the direct transcriptional regulation of Msx2 by FOXC1Solution NMR structures of homeodomains from human proteins ALX4, ZHX1, and CASP8AP2 contribute to the structural coverage of the Human Cancer Protein Interaction Network.Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.Molecular-pathogenetic classification of genetic disorders of the skeleton.Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.Cranial skeletal biology.Genetically altered mouse models: the good, the bad, and the ugly.Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway CattleRuns of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horsesTranslocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.Methylation pattern of ALX4 gene promoter as a potential biomarker for blood-based early detection of colorectal cancerGene expression analysis of zebrafish melanocytes, iridophores, and retinal pigmented epithelium reveals indicators of biological function and developmental originRUNX2 mutations in Chinese patients with cleidocranial dysplasia.Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations.Understanding Mechanisms of GLI-Mediated Transcription during Craniofacial Development and Disease Using the Ciliopathic Mutant, talpid2.Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene.Differential configurations involving binding of USF transcription factors and Twist1 regulate Alx3 promoter activity in mesenchymal and pancreatic cells.Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.Difference in apical and basal growth of the frontal bone primordium in Foxc1ch/ch mice.Transcriptome analysis revealed impaired cAMP responsiveness in PHF21A-deficient human cells.Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia.Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation.Novel insights into the regulation of limb development from 'natural' mammalian mutants. Studies in 'non-traditional' mammalian models with very different limb morphologies and sizes can contribute to resolving general developmental mechanisms.
P2860
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P2860
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
description
2001 nî lūn-bûn
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2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@ast
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@en
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@en-gb
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@nl
type
label
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@ast
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@en
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@en-gb
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@nl
prefLabel
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@ast
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@en
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@en-gb
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@nl
P2093
P3181
P356
P1433
P1476
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
@en
P2093
A O Wilkie
A Salamanca
G M Morriss-Kay
I Antonopoulou
L A Mavrogiannis
S M Sugayama
P2888
P3181
P356
10.1038/83703
P407
P50
P577
2001-01-01T00:00:00Z
P5875
P6179
1004606194