Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
about
Mowat-Wilson syndromeHomozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical featuresLarge-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.Mowat-Wilson syndromeOpposing functions of ZEB proteins in the regulation of the TGFbeta/BMP signaling pathwayHaploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)SIP1/ZEB2 induces EMT by repressing genes of different epithelial cell-cell junctionsEnteric nervous system development: migration, differentiation, and diseaseTumors of the neural crest: Common themes in development and cancerRegulation of C. elegans neuronal differentiation by the ZEB-family factor ZAG-1 and the NK-2 homeodomain factor CEH-28Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeMice 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 syndromeSmad-interacting protein-1 (Zfhx1b) acts upstream of Wnt signaling in the mouse hippocampus and controls its formationFour amino acids within a tandem QxVx repeat in a predicted extended α-helix of the Smad-binding domain of Sip1 are necessary for binding to activated Smad proteinsSip1 mediates an E-cadherin-to-N-cadherin switch during cranial neural crest EMT.Copy number variants in candidate genes are genetic modifiers of Hirschsprung diseaseNeuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsA survey of well conserved families of C2H2 zinc-finger genes in Daphnia.Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndromeZeb2 Regulates Cell Fate at the Exit from Epiblast State in Mouse Embryonic Stem CellsFine mapping of the NRG1 Hirschsprung's disease locusFine mapping of the 9q31 Hirschsprung's disease locus.Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population.Multilayer control of the EMT master regulators.A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.Hirschsprung disease, associated syndromes, and genetics: a review.Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.Bone morphogenetic proteins regulate enteric gliogenesis by modulating ErbB3 signaling.Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.miR-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.Pleiotropic effects of the bone morphogenetic proteins on development of the enteric nervous system.RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.WNT/β-catenin signaling mediates human neural crest induction via a pre-neural border intermediate.Signaling by small GTPases in the immune system.Riding the crest of the wave: parallels between the neural crest and cancer in epithelial-to-mesenchymal transition and migrationRegulation of epithelial-mesenchymal transition in palatal fusion.Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.Highly conserved upstream sequences for transcription factor genes and implications for the regulatory network.
P2860
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P2860
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
description
2001 nî lūn-bûn
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2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի ապրիլին հրատարակված գիտական հոդված
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2001年の論文
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2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@ast
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@en
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@en-gb
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@nl
type
label
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@ast
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@en
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@en-gb
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@nl
prefLabel
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@ast
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@en
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@en-gb
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@nl
P2093
P356
P1433
P1476
Mutations in SIP1, encoding Sm ...... a form of Hirschsprung disease
@en
P2093
H Taniguchi
K Mushiake
N Wakamatsu
P2888
P304
P356
10.1038/86860
P407
P50
P577
2001-04-01T00:00:00Z
P6179
1022867987