Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles.

doi:10.1002/jbmr.3387

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Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 2018

Comai Glenda, Boutet Agnès, Tanneberger Kristina, Massa Filippo, Rocha Ana-Sofia, Charlet Aurelie, Panzolini Clara, Jian Motamedi Fariba, Brommage Robert, Hans Wolfgang, Funck-Brentano Thomas, Hrabe de Angelis Martin, Hartmann Christine, Cohen-Solal Martine, Behrens Jürgen, Schedl Andreas

Abstract excerpt

The X-linked WTX/AMER1 protein constitutes an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signaling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumor. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a...

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PMID: 29329488
DOI: 10.1002/jbmr.3387

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AMER1
AXIN2

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