Cargando…

RET Mutational Spectrum in Hirschsprung Disease: Evaluation of 601 Chinese Patients

Rare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis). While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants ar...

Descripción completa

Detalles Bibliográficos
Autores principales:	So, Man-Ting, Leon, Thomas Yuk-Yu, Cheng, Guo, Tang, Clara Sze-Man, Miao, Xiao-Ping, Cornes, Belinda K., Ngo, Diem Ngoc, Cui, Long, Ngan, Elly Sau-Wai, Lui, Vincent Chai-Hang, Wu, Xuan-Zhao, Wang, Bin, Wang, Hualong, Yuan, Zheng-Wei, Huang, Liu-Ming, Li, Long, Xia, Huimin, Zhu, Deli, Liu, Juncheng, Nguyen, Thanh Liem, Chan, Ivy Hau-Yee, Chung, Patrick Ho-Yu, Liu, Xue-Lai, Zhang, Ruizhong, Wong, Kenneth Kak-Yuen, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235168/ https://www.ncbi.nlm.nih.gov/pubmed/22174939 http://dx.doi.org/10.1371/journal.pone.0028986

Ejemplares similares

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease
por: Wang, Yanbing, et al.
Publicado: (2022)

Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population
por: Cornes, Belinda K., et al.
Publicado: (2010)

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia
por: Cui, Long, et al.
Publicado: (2013)

Fine Mapping of the NRG1 Hirschsprung's Disease Locus
por: Tang, Clara Sze-Man, et al.
Publicado: (2011)

Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease
por: Fu, Alexander Xi, et al.
Publicado: (2020)

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease
por: Luzón-Toro, Berta, et al.
Publicado: (2015)

Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation
por: Li, Zhixin, et al.
Publicado: (2023)

A random forest-based framework for genotyping and accuracy assessment of copy number variations
por: Zhuang, Xuehan, et al.
Publicado: (2020)

Large-scale replication study identified multiple independent SNPs in RET synergistically associated with Hirschsprung disease in Southern Chinese population
por: Zhang, Yan, et al.
Publicado: (2017)

Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease
por: Wang, Hui, et al.
Publicado: (2019)

Gene Network Analysis of Candidate Loci for Human Anorectal Malformations
por: Wong, Emily H. M., et al.
Publicado: (2013)

Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis
por: Cheng, Guo, et al.
Publicado: (2017)

miRNA Profiling Reveals Dysregulation of RET and RET-Regulating Pathways in Hirschsprung's Disease
por: Li, Shuangshuang, et al.
Publicado: (2016)

Correction: Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3
por: Tang, Clara Sze-Man, et al.
Publicado: (2012)

Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3
por: Tang, Clara Sze-Man, et al.
Publicado: (2012)

The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease
por: Bhattarai, Chacchu, et al.
Publicado: (2022)

Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population
por: Wang, Yong, et al.
Publicado: (2018)

A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease
por: Chatterjee, Sumantra, et al.
Publicado: (2021)

Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease
por: Wu, Wei, et al.
Publicado: (2019)

Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis
por: Tou, Jinfa, et al.
Publicado: (2011)

Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease
por: Wang, Yang, et al.
Publicado: (2020)

HOXB5 Cooperates with NKX2-1 in the Transcription of Human RET
por: Zhu, Jiang, et al.
Publicado: (2011)

Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population
por: Zhang, Yan, et al.
Publicado: (2018)

RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease
por: Vaclavikova, Eliska, et al.
Publicado: (2014)

A Study on Genetic Polymorphism of RET Proto-Oncogene in Hirschsprung's Disease in Children
por: Kumari, Madhu, et al.
Publicado: (2020)

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications
por: Karim, Anwarul, et al.
Publicado: (2021)

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations
por: Jiang, Qian, et al.
Publicado: (2019)

Fine mapping of the 9q31 Hirschsprung’s disease locus
por: Tang, C. S., et al.
Publicado: (2010)

Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism
por: Liu, Wei, et al.
Publicado: (2015)

RET and PHOX2B Genetic Polymorphisms and Hirschsprung's Disease Susceptibility: A Meta-Analysis
por: Liang, Chun-mei, et al.
Publicado: (2014)

Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease
por: Yang, Dehua, et al.
Publicado: (2017)

Experiment R-601
por: CERN. Geneva. ISR Experiments Committee
Publicado: (1972)

Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease
por: Ji, Yue, et al.
Publicado: (2021)

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
por: Gui, Hongsheng, et al.
Publicado: (2017)

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes
por: Wong, John K. L., et al.
Publicado: (2016)

Loss-of-function mutation of c-Ret causes cerebellar hypoplasia in mice with Hirschsprung disease and Down's syndrome
por: Ohgami, Nobutaka, et al.
Publicado: (2021)

Human Pluripotent Stem Cell-Based Models for Hirschsprung Disease: From 2-D Cell to 3-D Organoid Model
por: Lui, Kathy Nga-Chu, et al.
Publicado: (2022)

A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
por: Sunardi, Mukhamad, et al.
Publicado: (2022)

Induction of RET Dependent and Independent Pro-Inflammatory Programs in Human Peripheral Blood Mononuclear Cells from Hirschsprung Patients
por: Rusmini, Marta, et al.
Publicado: (2013)

ASSOCIATION OF RS2435357 AND RS1800858 POLYMORPHISMS IN RET PROTO-ONCOGENE WITH HIRSCHSPRUNG DISEASE: SYSTEMATIC REVIEW AND META-ANALYSIS
por: AMOOEE, Abdolhamid, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_duda6ejnebttfu6tpu9nc47ks9