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Article

Zebrafish mafbb Mutants Display Osteoclast Over-Activation and Bone Deformity Resembling Osteolysis in MCTO Patients.

Biomolecules - 23 Mar 2021

Han Yujie, Shao Weihao, Zhong Dan, Ma Cui, Wei Xiaona, Ahmed Abrar, Yu Tingting, Jing Wei, Jing Lili

Abstract excerpt

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia with osteolysis at the carpal and tarsal bones. Heterozygous missense mutations in the transcription factor MAFB are found in patients with MCTO. MAFB is reported to negatively regulate osteoclastogenesis in vitro. However, the in vivo function of MAFB and its relation to MCTO remains unknown. In this study, we generated zebrafish MAFB...

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Identifiers

PMID: 33806930
DOI: 10.3390/biom11030480
PMCID: PMC8004647

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Zebrafish mafbb Mutants Display Osteoclast Over-Activation and Bone Deformity Resembling Osteolysis in MCTO Patients.PMID 33806930Read ↗

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.Semantic proximity Read ↗

Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.Semantic proximity Read ↗

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Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.Semantic proximity Read ↗

The identification of <i>MAFB</i> mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variabilitySemantic proximity Read ↗

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