ArticleAmerican journal of human genetics2003
Mice 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 syndrome.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers.
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134 citing papers in PubMed.
- Arrayed single-gene perturbations identify drivers of human anterior neural tube closure.eLife · 2026Article
- NR6A1 is essential for neural crest cell specification, formation and survival.Nature communications · 2026Article
- EMT and cancer: what clinicians should know.Nature reviews. Clinical oncology · 2025Review
- EMB is essential for enteric nervous system development mediated by PI3K signaling.Genome medicine · 2025Article
- Cell extrusion drives neural crest cell delamination.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Schwann cells in regeneration and cancer: an epithelial-mesenchymal transition perspective.Open biology · 2025Review
- Article
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.Journal of clinical medicine · 2024Review
- Cell extrusion - a novel mechanism driving neural crest cell delamination.bioRxiv : the preprint server for biology · 2024Article
- Identification and characterization of intermediate states in mammalian neural crest cell epithelial to mesenchymal transition and delamination.bioRxiv : the preprint server for biology · 2024Article
- Neural Crest.Advances in experimental medicine and biology · 2024Review
- Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.Nature communications · 2023Review
- Mowat-Wilson syndrome factor ZEB2 controls early formation of human neural crest through BMP signaling modulation.Stem cell reports · 2023Article
- Pathogenic roles of microRNAs and competing endogenous RNAs in Hirschsprung disease (HSCR): Potential diagnostic markers for HSCR.Pediatric discovery · 2023Review
- Article
- The rat Downunder (Du) coat color mutation is associated with eye anomalies and embryonic lethality and maps to a 3.9-Mb region on chromosome 3.Experimental animals · 2023Article
- An "unexpected" role for EMT transcription factors in hematological development and malignancy.Frontiers in immunology · 2023Review
- Single Cell Sequencing Reveals Mechanisms of Persistent Truncus Arteriosus Formation afterGenes · 2022Article
- Hirschsprung's disease: key microRNAs and target genes.Pediatric research · 2022Article
- Epithelial-mesenchymal transition and its transcription factors.Bioscience reports · 2022Review
74 more citing papers are in PubMed but not listed here.
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7 authors.
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Abstract
Recently, mutations in ZFHX1B, the gene that encodes Smad-interacting protein-1 (SIP1), were found to be implicated in the etiology of a dominant form of Hirschsprung disease-mental retardation syndrome in humans. To clarify the molecular mechanisms underlying the clinical features of SIP1 deficiency, we generated mice that bear a mutation comparable to those found in several human patients. Here, we show that Zfhx1b-knockout mice do not develop postotic vagal neural crest cells, the precursors of the enteric nervous system that is affected in patients with Hirschsprung disease, and they display a delamination arrest of cranial neural crest cells, which form the skeletomuscular elements of the vertebrate head. This suggests that Sip1 is essential for the development of vagal neural crest precursors and the migratory behavior of cranial neural crest in the mouse. Furthermore, we show that Sip1 is involved in the specification of neuroepithelium.
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