Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease
- An expression signature of the angiogenic response in gastrointestinal neuroendocrine tumours: correlation with tumour phenotype and survival outcomes. Pinato, D J; Tan, T M; Toussi, S T K; Ramachandran, R; Martin, N; Meeran, K; Ngo, N; Dina, R; Sharma, R // British Journal of Cancer;1/7/2014, Vol. 110 Issue 1, p115
Background:Gastroenteropancreatic neuroendocrine tumours (GEP-NETs) are heterogeneous with respect to biological behaviour and prognosis. As angiogenesis is a renowned pathogenic hallmark as well as a therapeutic target, we aimed to investigate the prognostic and clinico-pathological role of...
- 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.
- Noncoding RNAs in Endocrine Malignancy. KENTWELL, JESSICA; GUNDARA, JUSTIN S.; SIDHU, STAN B. // Oncologist;2014, Vol. 19 Issue 5, p483
Only recently has it been uncovered that the mammalian transcriptome includes a large number of noncoding RNAs (ncRNAs) that play a variety of important regulatory roles in gene expression and other biological processes. Among numerous kinds of ncRNAs, short noncoding RNAs, such as microRNAs,...
- 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.
- Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Garcia-Barceló, M.; Sham, M.H.; Lui, V.C.H.; Chen, B.L.S.; Ott, J.; Tam, P.K.H. // Gut;Apr2003, Vol. 52 Issue 4, p563
Background: Hirschsprung's disease (HSCR) is a congenital disorder characterised by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Manifestation of the disease has been linked to mutations in genes that encode the crucial signals for the development of the...
- 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).
- 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...