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Article

Nuclear factor I X deficiency causes brain malformation and severe skeletal defects.

Molecular and cellular biology - 1 May 2007

Driller Katrin, Pagenstecher Axel, Uhl Markus, Omran Heymut, Berlis Ansgar, Gründer Albert, Sippel Albrecht E

Abstract excerpt

The transcription factor family of nuclear factor I (NFI) proteins is encoded by four closely related genes: Nfia, Nfib, Nfic, and Nfix. A potential role for NFI proteins in regulating developmental processes has been implicated by their specific expression pattern during embryonic development and by analysis of NFI-deficient mice. It was shown that loss of NFIA results in hydrocephalus and agenesis of the corpus...

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Identifiers

PMID: 17353270
DOI: 10.1128/MCB.02293-06
PMCID: PMC1899988

Genes

NFIX
NFIA
NFIB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Nuclear factor I X deficiency causes brain malformation and severe skeletal defects.PMID 17353270Read ↗

Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.Semantic proximity Read ↗

Variants in nuclear factor I genes influence growth and development.Semantic proximity Read ↗

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.Semantic proximity Read ↗

The transcription factor Nfix is essential for normal brain development.Semantic proximity Read ↗

EMX2 transcriptionally regulates <i>Nfib</i> expression in neural progenitor cells during early cortical developmentSemantic proximity Read ↗

Nuclear factor I-B (Nfib) deficient mice have severe lung hypoplasia.Semantic proximity Read ↗

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.Semantic proximity Read ↗

Chiari malformation type I: a case-control association study of 58 developmental genes.Semantic proximity Read ↗

Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval.Semantic proximity Read ↗

Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I.Semantic proximity Read ↗

Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI.Semantic proximity Read ↗

Pax1/E2a double-mutant mice develop non-lethal neural tube defects that resemble human malformations.Semantic proximity Read ↗

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