Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
作者： Claire Nihoul-Fékété , Anna Pelet , Stanislas Lyonnet , Jeanne Amiel , Patrick J. Willems
DOI: 10.1007/BF03405925
关键词: Neurocristopathy 、 Missense mutation 、 Waardenburg syndrome 、 Locus (genetics) 、 Gene mutation 、 Biology 、 Allele 、 Endothelin 3 、 Genetics 、 Glial cell line-derived neurotrophic factor
摘要: … Shah-Waardenburg syndrome, a combination of HSCR with features of the Waardenburg … HSCR. The present data give further support to the role of the endothelin-signaling pathway in …
nature.com
sci-hub.st 参考文章(24)
Sakurai Takeshi, Yanagisawa Masashi, Masaki Tomoh, Molecular characterization of endothelin receptors. Trends in Pharmacological Sciences. ,vol. 13, pp. 103- 108 ,(1992) , 10.1016/0165-6147(92)90038-8
Yoshihiro Ogawa, Kazuwa Nakao, Hiroshi Arai, Osamu Nakagawa, Kiminori Hosoda, Shin-ichi Suga, Shigetada Nakanishi, Hiroo Imura, Molecular cloning of a non-isopeptide-selective human endothelin receptor. Biochemical and Biophysical Research Communications. ,vol. 178, pp. 248- 255 ,(1991) , 10.1016/0006-291X(91)91806-N
G Van Camp, M N Van Thienen, I Handig, B Van Roy, V S Rao, A Milunsky, A P Read, C T Baldwin, L A Farrer, M Bonduelle, Chromosome 13q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13q Journal of Medical Genetics. ,vol. 32, pp. 531- 536 ,(1995) , 10.1136/JMG.32.7.531
Henrik Daub, F. Ulrich Weiss, Christian Wallasch, Axel Ullrich, Role of transactivation of the EGF receptor in signalling by G-protein-coupled receptors Nature. ,vol. 379, pp. 557- 560 ,(1996) , 10.1038/379557A0
S Lyonnet, A Bolino, A Pelet, L Abel, C Nihoul-Fekete, ML Briard, V Mok-Siu, H Kaariainen, G Martucciello, M Lerone, A Puliti, Yin Luo, J Weissenbach, Marcella Devoto, A Munnich, G Romeo, None, A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genetics. ,vol. 4, pp. 346- 350 ,(1993) , 10.1038/NG0893-346
Giovanni Romeo, Patrizia Ronchetto, Yin Luo, Virginia Barone, Marco Seri, Isabella Ceccherini, Barbara Pasini, Renata Bocciardi, Margherita Lerone, Helena Kääriäinen, Giuseppe Martucciello, Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease Nature. ,vol. 367, pp. 377- 378 ,(1994) , 10.1038/367377A0
Paul B. Lesser, Adult-Onset Hirschsprung's Disease JAMA: The Journal of the American Medical Association. ,vol. 242, pp. 747- 748 ,(1979) , 10.1001/JAMA.1979.03300080045025
Kiminori Hosoda, Robert E. Hammer, James A. Richardson, Amy Greenstein Baynash, Jason C. Cheung, Adel Giaid, Masashi Yanagisawa, Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice Cell. ,vol. 79, pp. 1267- 1276 ,(1994) , 10.1016/0092-8674(94)90017-5
Misha Angrist, Stacey Bolk, Marc Halushka, Paul A. Lapchak, Aravinda Chakravarti, Germline mutations in glial cell line-derived neurotrophic factor ( GDNF ) and RET in a Hirschsprung disease patient Nature Genetics. ,vol. 14, pp. 341- 344 ,(1996) , 10.1038/NG1196-341
Rémi Salomon, Tania Attié, Anna Pelet, Christelle Bidaud, Charis Eng, Jeanne Amiel, Sabine Sarnacki, Olivier Goulet, Claude Ricour, Claire Nihoul-Fékété, Arnold Munnich, Stanislas Lyonnet, Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nature Genetics. ,vol. 14, pp. 345- 347 ,(1996) , 10.1038/NG1196-345