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Titolo:
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor
Autore:
Indo, Y;
Indirizzi:
Kumamoto Univ, Sch Med, Dept Pediat, Kumamoto 8608556, Japan Kumamoto Univ Kumamoto Japan 8608556 ept Pediat, Kumamoto 8608556, Japan
Titolo Testata:
HUMAN MUTATION
fascicolo: 6, volume: 18, anno: 2001,
pagine: 462 - 471
SICI:
1059-7794(2001)18:6<462:MBOCIT>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
HIGH-AFFINITY RECEPTOR; NEUROTROPHIN RECEPTORS; SIGNAL-TRANSDUCTION; PROTOONCOGENE; ONCOGENE; DOMAIN; REARRANGEMENTS; ORGANIZATION; EXPRESSION; ISODISOMY;
Keywords:
congenital insensitivity to pain with anhidrosis; CIPA; hereditary sensory and autonomic neuropathy type IV; HSAN-IV; NTRK1; TRK-A; nerve growth factor; NGF; receptor tyrosine kinase; RTK; uniparental disomy; UPD;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
50
Recensione:
Indirizzi per estratti:
Indirizzo: Indo, Y Kumamoto Univ, Sch Med, Dept Pediat, Honjo 1-1-1, Kumamoto 8608556, Japan Kumamoto Univ Honjo 1-1-1 Kumamoto Japan 8608556 o 8608556, Japan
Citazione:
Y. Indo, "Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor", HUM MUTAT, 18(6), 2001, pp. 462-471

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self mutilating behavior, and mental retardation. The TRKA (NTRK1) gene located on chromosome 1 (1q21-q22), consists of 17 exons and spans at least23 kb. TRKA encodes the receptor tyrosine kinase (RTK) for nerve growth factor (NGF) and is the gene responsible for CIPA. Defects in NGF signal transduction at the TRKA receptor lead to failure to support survival of sympathetic ganglion neurons and nociceptive sensory neurons derived from the neural crest. Thirty,seven different TRKA mutations, identified in patients invarious countries, including nine frameshift, seven nonsense, seven splice, and 14 missense mutations, are distributed in an extracellular domain involved in NGF binding, as well as in the intracellular signal-transduction domain. Extensive analysis of CIPA mutations and associated intragenic polymorphisms should facilitate detection of CIPA mutations and aid in the diagnosis and genetic counseling of this painless but severe genetic disorder with devastating complications. In addition, naturally occur. ring TRKA missense mutations with loss of function provide considerable insight into the structure-function relationship in the RTK family. Further, molecular pathology of CIPA would provide unique opportunities to explore critical roles ofthe autonomic sympathetic nervous system as well as peripheral sensory nervous system that transmit noxious stimuli in humans. Hum Mutat 18:462-471, 2001. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 19:11:12