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Titolo:
G370C MUTATION IN THE FGFR3 GENE IN A JAPANESE PATIENT WITH THANATOPHORIC DYSPLASIA
Autore:
KATSUMATA N; KUNO T; MIYAZAKI S; MIKAMI S; NAGASHIMAMIYOKAWA A; NIMURA A; HORIKAWA R; TANAKA T;
Indirizzi:
NATL CHILDRENS MED RES CTR,DEPT ENDOCRINOL & METAB,SETAGAYA KU,3-35-31 TAISHIDO TOKYO 154 JAPAN SAGA MED SCH,DEPT PEDIAT SAGA 849 JAPAN
Titolo Testata:
Endocrine journal
, volume: 45, anno: 1998, supplemento:, S
pagine: 171 - 174
SICI:
0918-8959(1998)45:<171:GMITFG>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
GROWTH-FACTOR RECEPTOR-3; TRANSMEMBRANE DOMAIN; FIBROBLAST; ACHONDROPLASIA; DWARFISM; SUBSTITUTION;
Keywords:
THANATOPHORIC DYSPLASIA; FIBROBLAST GROWTH FACTOR RECEPTOR 3; MISSENSE MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
13
Recensione:
Indirizzi per estratti:
Citazione:
N. Katsumata et al., "G370C MUTATION IN THE FGFR3 GENE IN A JAPANESE PATIENT WITH THANATOPHORIC DYSPLASIA", Endocrine journal, 45, 1998, pp. 171-174

Abstract

Thanatophoric dysplasia (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, relative macrocephaly, platyspondyly and reduced thoracic cavity. It has recently been reported that TD is caused by mutations in the FGFR3 gene. In the present study, we report a missense mutation in the FGFR3 gene in a Japanese patient with TD. The patient was noticed to have typical features of TD type 1 (TD1) at birth. The genomic DNAs of the patient and his parents were isolated from whole blood. DNA fragments of the FGFR3 gene were amplified by polymerase chain reaction, and directly sequenced. The patient was revealed to be heterozygous for a missense mutation G370C, changingcodon 370 (GGC) encoding Gly to TGC encoding Cys, but his parents didnot have the G370C mutation. The G370C mutation introduces an unpaired cysteine residue in the extracellular domain of FGFR3, which may result in formation of an intermolecular disulfide bond between two mutant FGFR3 monomers and their constitutive activation. In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1patient.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 16:42:23