Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Genetics, an alternative way to discover, characterize and understand ion channels
Autore:
Schofield, PR;
Indirizzi:
Garvan Inst Med Res, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res Darlinghurst NSW Australia 2010 , NSW 2010, Australia
Titolo Testata:
CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY
fascicolo: 1-2, volume: 28, anno: 2001,
pagine: 84 - 88
SICI:
0305-1870(200101/02)28:1-2<84:GAAWTD>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
HYPERKALEMIC PERIODIC PARALYSIS; HUMAN GLYCINE RECEPTOR; CHLORIDE CHANNEL; MUSCLE SODIUM; STARTLE DISEASE; ALPHA-SUBUNIT; MUTATION; HYPEREKPLEXIA; MYOTONIA; DOMINANT;
Keywords:
allele; channelopathy; genetics; glycine receptor; hyperekplexia; linkage; myotonia; periodic paralysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Schofield, PR Garvan Inst Med Res, 384 Victoria St, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res 384 Victoria St Darlinghurst NSW Australia 2010
Citazione:
P.R. Schofield, "Genetics, an alternative way to discover, characterize and understand ion channels", CLIN EXP PH, 28(1-2), 2001, pp. 84-88

Abstract

1. The conventional approach to understanding the structure and propel ties of ion channels has been to use physiological characterization.2, Purification and molecular cloning of ion channel genes has enabled more detailed structure-function analyses to be undertaken,3, An alternative approach to the identification of genes of pathophysiological importance has been the use of genetic linkage approaches and positional cloning or positional candidate analysis of ion channel genes.4. Using genetic approaches, mutations have been described that cause inherited neurological disorders of neurons (e.g. epilepsy, migraine, deafness,ataxia and startle disease), skeletal muscle (myotonia, malignant hyperthermia, periodic paralysis and myasthenia) and cardiac muscle (long QT syndrome and ventricular fibrillation),5. For each disease, gene structure-function analyses of the mutant alleles have provided further insights into the biology of ion channels. 6. The present brief review examines the methods used in genetic linkage studies and positional cloning of disease genes. Understanding hom ion channel gene mutations give rise to dysfunctional channels will be important in defining and treating the episodic and chronic channelopathies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 19:32:51