Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.

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Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

P2860

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P2860

Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Human Preosteoblastic Cell Cul ...... dy of In Vitro Mineralization.

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Human Preosteoblastic Cell Cul ...... dy of In Vitro Mineralization.

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Human Preosteoblastic Cell Cul ...... dy of In Vitro Mineralization.

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Human Preosteoblastic Cell Cul ...... udy of In Vitro Mineralization

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A Gozzini

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C Casentini

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P2860

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation

Mutation of the mouse klotho gene leads to a syndrome resembling ageing

A potential link between phosphate and aging--lessons from Klotho-deficient mice

Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain

Klotho, a gene related to a syndrome resembling human premature aging, functions in a negative regulatory circuit of vitamin D endocrine system

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene

Klotho converts canonical FGF receptor into a specific receptor for FGF23

Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice

P2888

s00223-015-9974-8

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438-452

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scholarly article

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10.1007/S00223-015-9974-8

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English

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Alessandro Franchi

Gemma Marcucci

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2015-04-23T00:00:00Z

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1050902193

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25899975

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Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.

about

P2860

P2860

Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.

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