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Titolo:
RECEPTOR MUTATIONS AND HAPLOTYPES IN GROWTH-HORMONE RECEPTOR DEFICIENCY - A GLOBAL SURVEY AND IDENTIFICATION OF THE ECUADORIAN E180SPLICE MUTATION IN AN ORIENTAL JEWISH PATIENT
Autore:
BERG MA; PEOPLES R; PEREZJURADO L; GUEVARAAGUIRRE J; ROSENBLOOM AL; LARON Z; MILNER RDG; FRANCKE U;
Indirizzi:
STANFORD UNIV,MED CTR,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT GENET STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT PEDIAT STANFORD CA 94305 INST ENDOCRINOL METAB & REPROD QUITO ECUADOR UNIV FLORIDA,DEPT PEDIAT GAINESVILLE FL 00000 TEL AVIV UNIV,CHILDRENS MED CTR,BEILINSON CAMPUS & SACKLER FAC MED IL-69978 TEL AVIV ISRAEL KING FAISAL SPECIALIST HOSP & RES CTR RIYADH 11211 SAUDI ARABIA
Titolo Testata:
Acta paediatrica
, volume: 83, anno: 1994, supplemento:, 399
pagine: 112 - 114
SICI:
0803-5253(1994)83:<112:RMAHIG>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
LARON SYNDROME; DWARFISM; GENE;
Keywords:
LARON SYNDROME; GROWTH HORMONE INSENSITIVITY; GROWTH HORMONE RECEPTOR DEFECTS; MECHANISMS OF MUTATION; MNLI RESTRICTION ENZYME; CARRIER DETECTION TEST;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
M.A. Berg et al., "RECEPTOR MUTATIONS AND HAPLOTYPES IN GROWTH-HORMONE RECEPTOR DEFICIENCY - A GLOBAL SURVEY AND IDENTIFICATION OF THE ECUADORIAN E180SPLICE MUTATION IN AN ORIENTAL JEWISH PATIENT", Acta paediatrica, 83, 1994, pp. 112-114

Abstract

Eight different mutations were detected in the growth hormone (GI-I) receptor gene of patients with inherited GH receptor deficiency (GHRD;Laron syndrome) from five continents. All the mutations are located in the extracellular domain of the receptor and are predicted to cause gross structural abnormalities and non-functional receptor molecules. They include three nucleotide changes in the coding region causing translational stop signals, including the newly identified E183X mutation; two nucleotide changes in introns that affect splice junctions; two dinucleotide deletions that result in stop codons downstream; and one single nucleotide change that activates a donor splice site within an exon and results in a transcript missing 24 nucleotides. This latter mutation (E180splice) was first identified in a cohort of patients withGHRD from southern Ecuador. Based on the fact that the E180splice mutation generates a new cleavage site for the restriction enzyme MnlI, asimple diagnostic test has been developed that can be carried out on dried blood spots collected on filter paper. A total of 55 affected individuals from Ecuador has been found to be homozygous for this mutation. Asymptomatic carriers can also be detected, and 104 of 150 individuals screened were found to be carriers. Using this test, the E180splice mutation has recently been detected in one of two oriental Jewish patients from Israel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 01:20:14