Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis

scientific article

Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1044604394
P356DOI10.1038/BONERES.2016.38
P932PMC publication ID5100662
P698PubMed publication ID27867679

P2093author name stringLin Zhao
Min Li
Minjia Zhang
Jianmin Liu
Peipei Zhang
Tingting Liu
Hongyan Zhao
Lei Ye
Bei Tao
Lianjun Du
Lihao Sun
Xiaoyi Ding
P2860cites workTwo novel GALNT3 mutations in familial tumoral calcinosisQ81245859
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosisQ81353302
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosisQ83469034
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylationQ24321247
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)Q26827280
A method and server for predicting damaging missense mutationsQ27860835
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosisQ28260847
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 geneQ28260860
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosisQ28292466
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmQ29547194
MutationTaster evaluates disease-causing potential of sequence alterationsQ29615749
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.Q33264714
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literatureQ34273172
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcificationQ35203191
A case of familial tumoral calcinosis in a neonate and review of the literature.Q35876095
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosisQ35925637
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).Q36269009
Tumoral calcinosis: pearls, polemics, and alternative possibilitiesQ36479739
Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition diseaseQ36832542
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic featuresQ37216979
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosisQ37417445
Proposal for a pathogenesis-based classification of tumoral calcinosisQ41095263
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia SyndromeQ41646281
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.Q42254986
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosisQ45018105
Successful treatment of hyperphosphatemic tumoral calcinosis with long-term acetazolamide.Q54176812
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.Q54458912
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutationsQ61831294
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P921main subjecthyperphosphatemic familial tumoral calcinosisQ32146709
P304page(s)16038
P577publication date2016-11-08
P1433published inBone researchQ26842189
P1476titleIdentification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis
P478volume4

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cites work (P2860)
Q53833396Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.
Q90174081Clinical and genetic analysis of idiopathic normophosphatemic tumoral calcinosis in 19 patients
Q89161363Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature

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