Mutations of the RET-GDNF signaling pathway in Ondine's curse [2]

American Journal of Human Genetics

Volumn 62, Issue 3, 1998, Pages 715-717

  Amiel, J ^a   Salomon, R ^a   Attie, T ^a   Pelet, A ^a   Trang, H ^a   Mokhtari, M ^a   Gaultier, C ^a   Munnich, A ^a   Lyonnet, S ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN; NEURITE PROMOTING FACTOR;

CASE REPORT; FEMALE; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; LETTER; LUNG ALVEOLUS HYPOVENTILATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTO ONCOGENE; SIGNAL TRANSDUCTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031981819     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301759     Document Type: Letter

References (17)

1. M Angrist S Bolk M Halushka PA Lapchak A Chakravarti Germline mutation in glial cell line–derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient Nat Genet 14 1996 341 344
2. J Amiel T Attié A Pelet P Edery C Bidaud D Lacombe P Tam Heterozygous endothelin receptor B (EDNRB) mutations in Hirschsprung disease Hum Mol Genet 5 1996 355 357
3. T Attié A Pelet P Edery C Eng L Mulligan J Amiel L Boutrand Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease Hum Mol Genet 4 1995 a 1381 1386
4. A Attié M Till A Pelet J Amiel P Edery L Boutrand A Munnich Mutation of the endothelin-receptor B gene in the Waardenburg-Hirschsprung disease Hum Mol Genet 4 1995 b 2407 2409
5. RP Bolande The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment Hum Pathol 5 1973 409 429
6. S Bolk M Angrist S Swartz JM Silvestri DE Weese-Mayer A Chakravarti Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET Am J Med Genet 63 1996 a 603 609
7. S Bolk M Angrist J Xie M Yanagisawa JM Silvestri DE Weese-Mayer A Chakravarti Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome Nat Genet 13 1996 b 395 396
8. 2 sensitivity J Auto Nerv Syst 63 1997 137 143
9. P Durbec CV Marcos-Gutierrez C Kilkenny M Grigoriou K Wartiowaara P Suvanto D Smith GDNF signalling through the RET receptor tyrosine kinase Nature 381 1996 789 793
10. P Edéry T Attié J Amiel A Pelet C Eng RMW Hofstra C Bidaud Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease Nat Genet 12 1996 442 444
11. GG Haddad NM Mazza R Defendini WA Blanc JM Driscoll MAF Epstein RA Epstein Congenital failure of autonomic control of ventilation, gastrointestinal motility and heart rate Medicine 57 1978 517 526
12. RB Mellins HH Balfour GM Turino RW Winters Failure of automatic control of ventilation (Ondine's curse) report of an infant born with this syndrome and review of the litterature Medicine 49 1970 487 504
13. VA McKusick Mendelian inheritance in man: a catalog of human genes and genetic disorders 12th ed. 1997 Johns Hopkins University Press Baltimore (http://www.ncbi.nlm.nih.gov.Omim/)
14. S Nakahara K Yokomori K Tamura K Oku Y Tsuchida Hirschsprung disease associated with Ondine's curse: a special subgroup? J Pediatr Surg 30 1995 1481 1484
15. EG Puffenberger K Hosoda SS Washington K Nakao D de Wit N Yanagisawa A Chakravarti A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease Cell 79 1994 1257 1266
16. R Salomon T Attié A Pelet C Bidaud C Eng J Amiel S Sarnacki Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease Nat Genet 14 1996 345 347
17. DE Weese-Mayer JM Silvestri ML Marazita JJ Hoo Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome Am J Med Genet 47 1993 360 367