Association study of PHOX2B as a candidate gene for Hirschsprung's disease
- Identifiable genetic causes. Sansbury, Francis H.; Ellard, Sian; Shaw-Smith, Charles; Turnpenny, Peter // BMJ: British Medical Journal;12/8/2012, Vol. 345 Issue 7886, p28
A letter to the editor is presented in response to the article "Hirschsprungâ€™s disease" by A. Arshad and colleagues in the October 1, 2012 issue.
- Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Wakamatsu, Nobuaki; Yamada, Yasukazu; Yamada, Kenichiro; Ono, Takao; Nomura, Noriko; Taniguchi, Hiroko; Kitoh, Hiroshi; Mutoh, Norihiro; Yamanaka, Tsutomu; Mushiake, Kyosuke; Kato, Kanefusa; Sonta, Shin-ichi; Nagaya, Masahiro // Nature Genetics;Apr2001, Vol. 27 Issue 4, p369
Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct facial features, but the gene mutated in this condition has not yet been identified. Here we report that mutations in SIP1, encoding Smad interacting...
- Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site. Geneste, Olivier; Bidaud, Christelle; Vita, Gabriella De; Hofstra, Robert M. W.; Tartare-Deckert, Sophie; Buys, Charles H. C. M.; Lenoir, Gilbert M.; Santoro, Massimo; Billaud, Marc // Human Molecular Genetics;Oct99, Vol. 8 Issue 11, p1989
Analyzes the functional consequences of two distinct RET photo-oncogene mutations causing Hirschsprung's disease. Coding of a transmembrane receptor by the gene; Residues essential for the recognition of RET; Effects of the mutations on the ability of RET to transduce downstream signals.
- Mutations of the RET proto-oncogene in Hirschprung's disease. Edery, Patrick; Lyonnet, Stanislas // Nature;1/27/1994, Vol. 367 Issue 6461, p378
Describes nonsense and missense mutations in the extracellular domain of RET protein that segregate with Hirschsprung's disease (HSCR). Multiple endocrine neoplasia type 2A (MEN 2A); Single-strand conformation polymorphism (SSCP).
- Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease. Griseri, P.; Patrone, G.; Puppo, F.; Romeo, G.; Ravazzolo, R.; Ceccherini, I. // Gut;Aug2003, Vol. 52 Issue 8, p1154
Background: The RET gene encodes a tyrosine kinase receptor involved in different human neurocristopathies, such as specific neuroendocrine tumours and Hirschsprung disease (HSCR). Gene expression is developmentally regulated and the RET transcript is undetectable in most adult cells, including...
- Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. Decker, Ruth A.; Peacock, Michael L.; Watson, Patrice // Human Molecular Genetics;Jan1998, Vol. 7 Issue 1, p129
Examines families with multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) for the presence of Hirschprung disease (HSCR1) and their predisposing RET mutation. Association of the number of MEN 2A RET genotypes with the co-expression of HSCR1; Correlation...
- Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Cacheux, Valère // Human Molecular Genetics;Jul2001, Vol. 10 Issue 14
Analyzes the mutations in SIP1 gene in a syndromic Hirschsprung disease. Determination of the chromosome 2 translocation breakpoint with the gene; Genomic structure and expression of the SIP1 gene; Alteration of the gene by heterozygous frameshift mutations; SIP1 expression pattern in different...
- Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease. Jannot, Anne-Sophie; Amiel, Jeanne; Pelet, Anna; Lantieri, Francesca; Fernandez, Raquel M; Verheij, Joke B G M; Garcia-Barcelo, Merce; Arnold, Stacey; Ceccherini, Isabella; Borrego, Salud; Hofstra, Robert M W; Tam, Paul K H; Munnich, Arnold; Chakravarti, Aravinda; Clerget-Darpoux, Françoise; Lyonnet, Stanislas // European Journal of Human Genetics;Sep2012, Vol. 20 Issue 9, p917
Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. Despite the multifactorial determination of HSCR in the vast majority of cases, there is a monogenic subgroup for which private rare RET coding sequence mutations...
- Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients. Luzón-Toro, Berta; Espino-Paisán, Laura; Fernández, Raquel Ma.; Martín-Sánchez, Marta; Antiñolo, Guillermo; Borrego, Salud // BMC Medical Genetics;10/6/2015, Vol. 16 Issue 1, p1
Background: The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as...