Author's response to reviews Title: Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events Authors:
نویسندگان
چکیده
Rocio Núñez-Torres (rocio.nunez.exts@juntadeandalucia.es) Raquel M Fernández (raquel.fernandez.exts@juntadeandalucia.es) Manuel Jesús Acosta (manuelj.acosta.exts@juntadeandalucia.es) Maria del Valle Enguix-Riego (enguixriego@gmail.es) Martina Marbá (mmarba@cipf.es) Juan Carlos de Agustin (juanc.agustin.sspa@juntadeandalucia.es) Luis Castaño (castano@osakidetza.net) Guillermo Antiñolo (guillermo.antinolo.sspa@juntadeandalucia.es) Salud Borrego (salud.borrego.sspa@juntadeandalucia.es)
منابع مشابه
Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients
Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. The RET proto-oncogene is the major gene for HSCR with differential contributions of its rare and common, coding an...
متن کاملMutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients
Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic colon segment and functional intestinal obstruction. The RET proto-oncogene is the major gene associated to HSCR with differential contributions of its rare and commo...
متن کاملLarge-scale replication study identified multiple independent SNPs in RET synergistically associated with Hirschsprung disease in Southern Chinese population
Hischsprung disease (HSCR) is an intestinal disorder with strong genetic components. RET was considered as the strongest contributor. Multiple single nucleotide polymorphisms (SNP) were demonstrated as associated with HSCR in different populations. However, whether the associations of reported SNPs derived from one causal variants or congregations of multiple variants were still not clear. In t...
متن کاملDifferential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET. In a study of 690 European- and 192 Chinese-descent probands and their parents or controls, we demonstrate the ubiquity of a >4-fold susceptibility from a C-->T allele (rs2435357: p = 3.9 x 10(-43) in European ancestry; p = 1.1 x 10(-21) in Chinese samples) that probably arose once within the intronic RET e...
متن کاملRET proto-oncogene mutations in the diagnosis of medullary thyroid cancer: a review article
Medullary thyroid cancer accounts for 5-10% of thyroid carcinomas. RET proto-oncogene mutations occur in all of the hereditary MTCs and about 66% of the sporadic MTCs. So, the detection of the RET mutations is necessary for rapid and proper diagnosis and treatment. This systematic review seeks to find a comprehensive list of RET gene mutations in the diagnosis of medullary thyroid cancer. The ...
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تاریخ انتشار 2011