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Two novel GALNT3 mutations in familial tumoral calcinosis
American journal of medical genetics. Part A, 2007-10, Vol.143A (20), p.2390-2396
Garringer, Holly J.
Mortazavi, Seyed Mohammad Javad
Esteghamat, Fatemehsadat
Malekpour, Mahdi
Boztepe, Harika
Tanakol, Refik
Davis, Siobhan I.
White, Kenneth E.
2007
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Garringer, Holly J.
Mortazavi, Seyed Mohammad Javad
Esteghamat, Fatemehsadat
Malekpour, Mahdi
Boztepe, Harika
Tanakol, Refik
Davis, Siobhan I.
White, Kenneth E.
Titel
Two novel GALNT3 mutations in familial tumoral calcinosis
Ist Teil von
American journal of medical genetics. Part A, 2007-10, Vol.143A (20), p.2390-2396
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2007
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Familial tumoral calcinosis (TC) is characterized by elevated serum phosphate concentrations, normal or elevated 1,25(OH)2 vitamin D, as well as periarticular and vascular calcifications. Recessive mutations in the mucin‐like glycosyltransferase GalNAc transferase‐3 (GALNT3) and the phosphaturic hormone fibroblast 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 revealed a novel, homozygous base insertion (1102_1103insT) in GALNT3 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 intact biologically active FGF23 and high levels of C‐terminal FGF23. In order to discern a possible relationship between GALNT3 and FGF23 in TC, a comprehensive assessment 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 TC 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. © 2007 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.31947
Titel-ID: cdi_proquest_miscellaneous_68330689
Format
–
Schlagworte
Amino Acid Sequence
,
Base Sequence
,
Biological and medical sciences
,
Calcinosis - genetics
,
Calcinosis - pathology
,
Dermatology
,
DNA Mutational Analysis
,
FGF-23
,
FGF23
,
Fibroblast Growth Factor-23
,
Fibroblast Growth Factors - blood
,
Fibroblast Growth Factors - genetics
,
Fibroblast Growth Factors - metabolism
,
GalNAc-T3
,
Humans
,
hyperphosphatemia
,
Medical genetics
,
Medical sciences
,
Molecular Sequence Data
,
Mutation
,
N-Acetylgalactosaminyltransferases - blood
,
N-Acetylgalactosaminyltransferases - genetics
,
N-Acetylgalactosaminyltransferases - metabolism
,
phosphate
,
Polypeptide N-acetylgalactosaminyltransferase
,
Tumors of the skin and soft tissue. Premalignant lesions
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