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Article

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.

Bone - 1 Feb 2009

Farrow Emily G, Davis Siobhan I, Ward Leanne M, Summers Lelia J, Bubbear Judith S, Keen Richard, Stamp Trevor C B, Baker Laurence R I, Bonewald Lynda F, White Kenneth E

Abstract excerpt

We previously demonstrated that the mutations Met1Val (M1V) and the deletion of nucleotides 1484-1490 (1484-1490del) in Dentin matrix protein-1 (DMP1) cause the novel disorder autosomal recessive hypophosphatemic rickets (ARHR), which is associated with elevated fibroblast growth factor-23 (FGF23...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19007919
DOI: 10.1016/j.bone.2008.10.040
PMCID: PMC2669955

Genes

DMP1
FGF23
IBSP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19007919-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.PMID 19007919Read ↗

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.Semantic proximity Read ↗

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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.Semantic proximity Read ↗

DMP1 C-terminal mutant mice recapture the human ARHR tooth phenotype.Semantic proximity Read ↗

Studies of the DMP1 57-kDa Functional Domain both in vivo and in vitroSemantic proximity Read ↗

The First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.Semantic proximity Read ↗

First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.Semantic proximity Read ↗

The role of DMP1 in autosomal recessive hypophosphatemic rickets.Semantic proximity Read ↗

A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.Semantic proximity Read ↗

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?Semantic proximity Read ↗

Overexpression of the DMP1 C-terminal fragment stimulates FGF23 and exacerbates the hypophosphatemic rickets phenotype in Hyp mice.Semantic proximity Read ↗

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.Semantic proximity Read ↗

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