Associated Papers
Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.
Fujii Y et al.
Bone Research, 2025
ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.
Reichenberger EJ et al.
Jbmr Plus, 2024
Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.
Fujii Y et al.
Research Square, 2024
Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia.
Soto Barros J et al.
Bone Reports, 2023
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
A three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated ANKH gene.
Wu JL et al.
World Journal of Clinical Cases, 2021
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Perne C et al.
Plos One, 2021
Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia.
Fujii Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.
Vijen S et al.
Scientific Reports, 2020
Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD).
Wang X et al.
Calcified Tissue International, 2019
Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice.
Motch Perrine SM et al.
Disease Models & Mechanisms, 2019
Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.
Kanaujiya J et al.
Scientific Reports, 2018
Human Genetics of Sclerosing Bone Disorders.
De Ridder R et al.
Current Osteoporosis Reports, 2018
Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.
Chen IP et al.
Stem Cell Reports, 2017
Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.
Liu Y et al.
Journal of Negative Results in Biomedicine, 2016
Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
Faruqi T et al.
Biomed Research International, 2014
Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia.
Chen IP et al.
Cellular Reprogramming, 2013
Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2013
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.
Hu Y et al.
Plos One, 2013
Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.
Dutra EH et al.
Clinical Genetics, 2012
A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).
Chen IP et al.
Human Molecular Genetics, 2011
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
Kornak U et al.
American Journal of Medical Genetics. Part A, 2010
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.
Zajac A et al.
American Journal of Medical Genetics. Part A, 2010
Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.
Chen IP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nürnberg P et al.
Nature Genetics, 2001