Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features
about
Mowat-Wilson syndromeAngelman syndrome: a review of the clinical and genetic aspectsSIP1/ZEB2 induces EMT by repressing genes of different epithelial cell-cell junctionsMice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndromeA genome-wide association study identifies potential susceptibility loci for Hirschsprung diseasemiR-200b mediates post-transcriptional repression of ZFHX1B.Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.The developmental etiology and pathogenesis of Hirschsprung disease.Highly conserved upstream sequences for transcription factor genes and implications for the regulatory network.Clinical utility gene card for: Mowat-Wilson syndromeZebrafish sip1a and sip1b are essential for normal axial and neural patterning.Interaction between Smad-interacting protein-1 and the corepressor C-terminal binding protein is dispensable for transcriptional repression of E-cadherin.ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm.Genetic interactions and modifier genes in Hirschsprung's disease.Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.BMP4 signaling mediates Zeb family in developing mouse tooth.miR-200b regulates cell migration via Zeb family during mouse palate development.Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.Generation of the floxed allele of the SIP1 (Smad-interacting protein 1) gene for Cre-mediated conditional knockout in the mouse.Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
P2860
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P2860
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features
description
2001 nî lūn-bûn
@nan
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
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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
Nonsense and frameshift mutati ...... t variety of clinical features
@ast
Nonsense and frameshift mutati ...... t variety of clinical features
@en
Nonsense and frameshift mutati ...... t variety of clinical features
@nl
type
label
Nonsense and frameshift mutati ...... t variety of clinical features
@ast
Nonsense and frameshift mutati ...... t variety of clinical features
@en
Nonsense and frameshift mutati ...... t variety of clinical features
@nl
prefLabel
Nonsense and frameshift mutati ...... t variety of clinical features
@ast
Nonsense and frameshift mutati ...... t variety of clinical features
@en
Nonsense and frameshift mutati ...... t variety of clinical features
@nl
P2093
P2860
P356
P1476
Nonsense and frameshift mutati ...... t variety of clinical features
@en
P2093
Hayakawa C
Matsumoto A
Miyazaki S
P2860
P304
P356
10.1086/324343
P407
P577
2001-10-02T00:00:00Z