Fetal liver cells transplanted in utero rescue the osteopetrotic phenotype in the oc/oc mouse.

doi:10.2353/ajpath.2009.080688

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Article

Fetal liver cells transplanted in utero rescue the osteopetrotic phenotype in the oc/oc mouse.

The American journal of pathology - 1 Mar 2009

Tondelli Barbara, Blair Harry C, Guerrini Matteo, Patrene Kenneth D, Cassani Barbara, Vezzoni Paolo, Lucchini Franco

Abstract excerpt

Autosomal recessive osteopetrosis (ARO) is a group of genetic disorders that involve defects that preclude the normal function of osteoclasts, which differentiate from hematopoietic precursors. In half of human cases, ARO is the result of mutations in the TCIRG1 gene, which codes for a subunit of the vacuolar proton pump that plays a fundamental role in the acidification of the cell-bone interface. Functional...

Topics

Animals
Crosses, Genetic
DNA Primers
Disease Models, Animal
Female
Fetal Tissue Transplantation
Fetus
Genotype
Hematopoietic Stem Cell Transplantation
Humans
Liver Transplantation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice

Mice, Inbred C57BL

Mice, Inbred Strains

Mutation

Osteopetrosis

Phenotype

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 19218349
DOI: 10.2353/ajpath.2009.080688
PMCID: PMC2665735

Genes

TCIRG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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