Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
about
Mowat-Wilson syndromeNonsense 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 pathwaySIP1/ZEB2 induces EMT by repressing genes of different epithelial cell-cell junctionsEnteric nervous system development: migration, differentiation, and diseaseRegulation 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 proteinsThe hypoxia factor Hif-1α controls neural crest chemotaxis and epithelial to mesenchymal transition.Neuroimaging 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 CellsClinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Mutations in SCG10 are not involved in Hirschsprung disease.Expression profiling of transforming growth factor beta superfamily genes in developing orofacial tissue.Reprogramming of replicative senescence in hepatocellular carcinoma-derived cells.Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.Palate morphogenesis: current understanding and future directions.miR-200b mediates post-transcriptional repression of ZFHX1B.Recent advances in understanding transforming growth factor beta regulation of orofacial development.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.Riding the crest of the wave: parallels between the neural crest and cancer in epithelial-to-mesenchymal transition and migrationMutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusExperience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family.Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Building a brain in the gut: development of the enteric nervous system.Aptamers and their potential to selectively target aspects of EGF, Wnt/β-catenin and TGFβ-smad family signaling.Clinical utility gene card for: Mowat-Wilson syndromeMowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection.ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.Zebrafish sip1a and sip1b are essential for normal axial and neural patterning.Mowat-Wilson syndrome: neurological and molecular study in seven patients.Interaction between Smad-interacting protein-1 and the corepressor C-terminal binding protein is dispensable for transcriptional repression of E-cadherin.
P2860
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P2860
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին 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
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@ast
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@en
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@nl
type
label
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@ast
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@en
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@nl
prefLabel
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@ast
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@en
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@nl
P2093
P356
P1476
Loss-of-function mutations in ...... yndromic Hirschsprung disease.
@en
P2093
Boissier B
Bondurand N
Dastot-Le Moal F
Goossens M
Kääriäinen H
P304
P356
10.1093/HMG/10.14.1503
P577
2001-07-01T00:00:00Z