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Titolo:
THE MOLECULAR-GENETICS OF GROWTH-HORMONE DEFICIENCY
Autore:
PROCTER AM; PHILLIPS JA; COOPER DN;
Indirizzi:
UNIV WALES COLL CARDIFF,COLL MED,INST MED GENET,HEATH PK CARDIFF CF4 4XN S GLAM WALES VANDERBILT UNIV,SCH MED,DEPT PEDIAT NASHVILLE TN 37232
Titolo Testata:
Human genetics
fascicolo: 3, volume: 103, anno: 1998,
pagine: 255 - 272
SICI:
0340-6717(1998)103:3<255:TMOGD>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYMERASE CHAIN-REACTION; CHORIONIC SOMATOMAMMOTROPIN GENES; IN-SITU HYBRIDIZATION; AMINO-ACID-RESIDUES; GH-N GENE; THYROID-HORMONE; BINDING-SITE; MESSENGER-RNA; ENCODING GENE; NUCLEOTIDE-SEQUENCE;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
176
Recensione:
Indirizzi per estratti:
Citazione:
A.M. Procter et al., "THE MOLECULAR-GENETICS OF GROWTH-HORMONE DEFICIENCY", Human genetics, 103(3), 1998, pp. 255-272

Abstract

Although most cases of short stature associated with growth hormone (GH) deficiency are sporadic and idiopathic, some 5-30% have an affected first degree relative consistent with a genetic aetiology for the condition. Several different types of mutational lesion in the pituitary-expressed growth hormone (GHI) gene have been described in affected individuals. This review focuses primarily on the GH1 mutational spectrum and its unusual features, discusses potential mechanisms of mutagenesis and pathogenesis, and examines the correlation between mutant genotype and clinical phenotype. The characterization of pathological lesions in several other pituitary-expressed genes that are epistatic to GH1 (POU1F1, PROP1 and GHRHR) has identified additional causes of GH deficiency, the molecular genetics of which are also explored.

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Documento generato il 01/12/20 alle ore 15:19:35