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Article

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Human molecular genetics - 1 Dec 2005

Hermanns Pia, Bertuch Alison A, Bertin Terry K, Dawson Brian, Schmitt Mark E, Shaw Chad, Zabel Bernhard, Lee Brendan

Abstract excerpt

Cartilage-hair hypoplasia (CHH), also known as metaphyseal chondrodysplasia McKusick type (OMIM no. 250250), is an autosomal recessive, multi-systemic disease characterized by disproportionate short stature, fine and sparse hair, deficient cellular immunity and a predisposition to malignancy. It is caused by mutations in RMRP, the RNA component of the ribonucleoprotein complex RNase MRP, and, thus, CHH represents...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16254002
DOI: 10.1093/hmg/ddi403

Genes

NME1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.PMID 16254002Read ↗

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.Semantic proximity Read ↗

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.Semantic proximity Read ↗

RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasiaSemantic proximity Read ↗

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesisSemantic proximity Read ↗

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.Semantic proximity Read ↗

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesisSemantic proximity Read ↗

A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.Semantic proximity Read ↗

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.Semantic proximity Read ↗

Decreased telomere length in children with cartilage-hair hypoplasia.Semantic proximity Read ↗

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.Semantic proximity Read ↗

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.Semantic proximity Read ↗

RMRP mutations in cartilage-hair hypoplasia.Semantic proximity Read ↗

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