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Article

Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome.

Clinical genetics - 1 Jan 2015

Tay Y-L

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25174690
DOI: 10.1111/cge.12495

Genes

SNRPB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome.PMID 25174690Read ↗

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.Semantic proximity Read ↗

Spliceosomopathies and neurocristopathies: Two sides of the same coin?Semantic proximity Read ↗

Identification of a link between splicing and endoplasmic reticulum proteostasisSemantic proximity Read ↗

<i>Snrpb</i> , the CCMS gene, is required in neural crest cells for proper splicing of genes essential for craniofacial morphogenesisSemantic proximity Read ↗

snRNP proteins in health and disease.Semantic proximity Read ↗

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.Semantic proximity Read ↗

Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.Semantic proximity Read ↗

A review of craniofacial disorders caused by spliceosomal defects.Semantic proximity Read ↗

mRNA Metabolism and hereditary disorders: a tale of surveillance and escape.Semantic proximity Read ↗

Prader-Willi Syndrome Is Caused by Disruption of the SNRPN GeneSemantic proximity Read ↗

The splicing paralogues SNRPB and SNRPN control differential metabolic states.Semantic proximity Read ↗

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Semantic proximity Read ↗

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