A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE- 1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction [6]

American Journal of Human Genetics

Volumn 64, Issue 1, 1999, Pages 304-307

  Hofstra, R M W ^a   Valdenaire, O ^a   Arch, E ^a   Osinga, J ^a   Kroes, H ^a   Loffler B , M ^a   Hamosh, A ^a   Meijers, C ^a   Buys, C H C M ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ENDOTHELIN CONVERTING ENZYME;

ANIMAL EXPERIMENT; ANIMAL MODEL; AUTONOMIC DYSFUNCTION; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DNA DETERMINATION; EXON; GENE MUTATION; GENE SEQUENCE; HIRSCHSPRUNG DISEASE; HUMAN; LETTER; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ANIMALIA;

EID: 0033366516     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302184     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. AG Baynash K Hosoda A Giaid JA Richardson N Emoto RE Hammer M Yanagisawa Interaction of endothelin 3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons Cell 79 1994 1277 1285
3. S Bolk A Pelet RMW Hofstra R Salomon M Angrist CHCM Buys S Lyonnet Multigenic inheritance of Hirschsprung disease Am J Hum Genet 61 1997 A41
4. P Edery T Attie J Amiel A Pelet C Eng RMW Hofstra H Martelli Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) Nat Genet 12 1996 442 444
5. P Edery S Lyonnet LM Mulligan A Pelet E Dow L Abel S Holder Mutations of the RET proto-oncogene in Hirschsprung's disease Nature 367 1994 378 380
6. MD Gershon Genes and lineages in the formation of the enteric nervous system Curr Opin Neurobiol 7 1997 101 109
7. RMW Hofstra J Osinga G Tan Y Wu EJ Kamsteeg RP Stulp C van Ravenswaaij-Arts A homozygous mutation in the human endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) Nat Genet 12 1996 445 447
8. Y Kurihara H Kurihara K Maemura T Kuwaki M Kumada Y Yazaki Impaired development of the thyroid and thymus in endothelin-1 knock-out mice J Cardiovasc Pharmacol 26 suppl 3 1995 S13 S16
9. Y Kurihara H Kurihara H Suzuki T Kodama K Maemura R Nagai H Oda Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin 1 Nature 368 1994 703 710
10. BM Löffler JP Maire Radioimmunological determination of endothelin peptides in human plasma: a methodological approach Endothelium 1 1994 273 286
11. V Pingault N Bondurand K Kuhlbrodt DE Goerich MO Prehu A Puliti B Herbacrth SOX10 mutations in patients with Waardenburg-Hirschsprung disease Nat Genet 18 1998 171 173
12. EG Puffenberger K Hosoda SS Washington K Nakao D de Wit M Yanigisawa A Chakravarti A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease Cell 79 1994 1257 1266
13. G Romeo P Ronchetto L Yin V Barone M Seri I Ceccherini B Pasini Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease Nature 367 1994 377 378
14. R Salomon T Attie 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
15. A Schweizer O Valdenaire P Nelböck U Deuschle JB Dumas Milne Edwards JG Stumpf BM Löffler Human endothelin-converting enzyme (ECE-1): three isoforms with distinct subcellular localizations Biochem J 328 1997 871 877
16. O Valdenaire E Rohrbacher MG Mattei Organization of the gene encoding the human endothelin-converting enzyme (ECE-1) J Biol Chem 270 1995 29794 29798
17. H Yanagisawa M Yanagisawa RP Kapur JA Richardson SC Williams DE Clouthier D de Wit Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene Development 125 1998 825 836