Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts
A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.
Wu A et al.
Molecular Genetics and Metabolism Reports, 2024
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals.
Kato K et al.
Molecules (basel, Switzerland), 2021
A Cross-Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis.
Lee AE et al.
Jbmr Plus, 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
Mahjoubi F et al.
Journal of Endocrinological Investigation, 2020
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Gahl WA et al.
Molecular Genetics and Metabolism, 2016
Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
Sun L et al.
Bone Research, 2016
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
Esapa CT et al.
Plos One, 2012
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).
Farrow EG et al.
Best Practice & Research. Clinical Rheumatology, 2011
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
Yancovitch A et al.
Journal of Bone and Mineral Metabolism, 2011
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S et al.
American Journal of Medical Genetics. Part A, 2010
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.
Gok F et al.
Acta Orthopaedica, 2009
Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.
Laleye A et al.
Genetic Counseling (geneva, Switzerland), 2008
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