A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis [1]

American Journal of Human Genetics

Volumn 64, Issue 4, 1999, Pages 1207-1210

  Greco, A ^a   Villa, R ^a   Tubino, B ^a   Romano, L ^a   Penso, D ^a   Pierotti, M A ^a  

^a NATIONAL CANCER INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ANHIDROSIS; AUTOMUTILATION; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONGENITAL ANALGESIA; CONSANGUINEOUS MARRIAGE; FEVER; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; LETTER; MALE; MENTAL DEFICIENCY; NEURAL CREST; POINT MUTATION; PRIORITY JOURNAL;

EID: 0033358543     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302319     Document Type: Letter

References (11)

1. FB Axelrod Autonomic and sensory disorders AEH Emory DL Rimoin Principles of medical genetics 1996 Churchill Livingstone Edinburgh 397 411
2. FB Axelrod J Pearson Congenital sensory neuropathies: diagnostic distinction from familial dysautonomia Am J Dis Child 138 1984 947 954
3. AM Fagan H Zhang S Landis RJ Smeyne I Silos-Santiago M Barbacid TrkA, but not TrkC, receptors are essential for survival of sympathetic neurons in vivo J Neurosci 16 1996 6208 6218
4. A Greco L Fusetti C Miranda R Villa S Zanotti S Pagliardini MA Pierotti Role of the TFG N-terminus and coiled-coil domain in the transforming activity of the thyroid TRK-T3 oncogene Oncogene 16 1998 809 816
5. A Greco C Mariani C Miranda A Lupas S Pagliardini M Pomati MA Pierotti The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain Mol Cell Biol 15 1995 6118 6127
6. Y Indo M Tsuruta Y Hayashida MA Karim K Otha T Kawano H Mitsubuchi Mutations in TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis Nat Genet 13 1996 485
7. DR Kaplan BL Hempstead D Martin-Zanca MV Chao LF Parada The trk proto-oncogene product: a signal transducing receptor for nerve growth factor Science 252 1991 554 558
8. R Klein S Jing V Nanduri E O'Rourke M Barbacid The trk proto-oncogene encodes a receptor for nerve growth factor Cell 65 1991 189 197
9. J Langer HH Goebel S Veit Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV: an electron-microscopic study Acta Neuropathologica 54 1981 199 202
10. S Rosemberg SK Marie S Kliemann Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) Pediatr Neurol 11 1994 50 56
11. RJ Smeyne R Klein A Schnapp LK Long S Bryant A Lewin SA Lira Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene Nature 368 1994 246 249