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dc.contributor.authorBoztepe, Harika
dc.contributor.authorWhite, Kenneth E.
dc.contributor.authorMalekpour, Mahdi
dc.contributor.authorTanako, Refik
dc.contributor.authorDavis, Siobhan I.
dc.contributor.authorGarringer, Holly J.
dc.contributor.authorMortazavi, Seyed Mohammad Javad
dc.contributor.authorEsteghamat, Fatemehsadat
dc.date.accessioned2021-03-05T19:34:57Z
dc.date.available2021-03-05T19:34:57Z
dc.date.issued2007
dc.identifier.citationGarringer H. J. , Mortazavi S. M. J. , Esteghamat F., Malekpour M., Boztepe H., Tanako R., Davis S. I. , White K. E. , "Two novel GALNT3 mutations in familial tumoral calcinosis", AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.2390-2396, 2007
dc.identifier.issn1552-4825
dc.identifier.otherav_cfef6b8f-7a15-4ad2-b490-4a943ea2af9d
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/137483
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.31947
dc.description.abstractFamilial tumoral calcinosis(TC) is characterized by elevated serum ohosphate concentrations, normal or elevated 1.25(OH)(2) vitamin (D,) as well as periarticular and vascular calcifications. Recessive mutations in the mucin-like-glyco-syltransferase GalNAc transferase-3 (GALNT3) and the phosphaturic hormone fibroglast growth factor-23 (FGF23) have been shown to result in TC. in the present study, mutational analyses were performed on two patients with TC to determine the molecular basis of their diseases. Analysis of the first patient reavealed a novel, homozygous base insertion (1102_1103insT) inGALNT3 exon 5 that results in a frameshift and premature stop codon (E375X). The second patient had a novel homozygous transition (1460 g>a) in GALNT3 exon 7, which caused a nonsense mutation (W487X). Both mutations are predicted to markedly truncate the mature GALNT3 protein product. Although the patients carry GALNT3 mutations, these individuals presented with low-normal serum concentrations of onact biologically active FGF23 in TC, a comprehensive assesment of the reported TC mutations was also performed. In summary, we have detected novel GALNT3 mutations that result in familial TC, and show that disturbed serum FGF23 concentrations are present in our cases as well as in previously reported cases. These studies expand our current genetic understanding of familial TC, and support a pathophysiological association between GALNT3 and FGF23. (C) 2007Wiley-Liss, Inc.
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titleTwo novel GALNT3 mutations in familial tumoral calcinosis
dc.typeMakale
dc.relation.journalAMERICAN JOURNAL OF MEDICAL GENETICS PART A
dc.contributor.department, ,
dc.identifier.issue20
dc.identifier.startpage2390
dc.identifier.endpage2396
dc.contributor.firstauthorID185007


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