scholarly journals PTCH1 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Ptch1 Gene

scholarly journals Common Genetic Variations in Patched1 (PTCH1) Gene and Risk of Hirschsprung Disease in the Han Chinese Population

PLoS ONE ◽  
2013 ◽  
Vol 8 (9) ◽  
pp. e75407 ◽  
Author(s):  
Yang Wang ◽  
Jun Wang ◽  
Weihua Pan ◽  
Ying Zhou ◽  
Yongtao Xiao ◽  
...  
Keyword(s):  
Chinese Population ◽  
Hirschsprung Disease ◽  
Genetic Variations ◽  
Han Chinese ◽  
Han Chinese Population ◽  
Ptch1 Gene

scholarly journals Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for PTCH1 gene

2021 ◽  
pp. 102517
Author(s):  
Bailing Zu ◽  
Xiaoqing Zhang ◽  
Guoling You ◽  
Qihua Fu
Keyword(s):  
Ipsc Line ◽  
Ptch1 Gene ◽  
Human Ipsc

scholarly journals Loss of the PTCH1 gene locus in cardiac fibroma

2008 ◽  
Vol 17 (2) ◽  
pp. 93-97 ◽  
Author(s):  
David Scanlan ◽  
Stanley J. Radio ◽  
Marilu Nelson ◽  
Ming Zhou ◽  
Renae Streblow ◽  
...  
Keyword(s):  
Gene Locus ◽  
Cardiac Fibroma ◽  
Ptch1 Gene

scholarly journals Contribution of Common Variants in GABRG2, RELN and NRG3 and Interaction Networks to the Risk of Hirschsprung Disease

2016 ◽  
Vol 40 (3-4) ◽  
pp. 509-526 ◽  
Author(s):  
Yang Wang ◽  
Jun Wang ◽  
Ying Zhou ◽  
Zhiyun Wei ◽  
Yongtao Xiao ◽  
...  
Keyword(s):  
Genetic Interaction ◽  
Interaction Analysis ◽  
Hirschsprung Disease ◽  
Gene Interaction ◽  
Han Chinese ◽  
Interaction Networks ◽  
Common Variants ◽  
Chinese Origin ◽  
Ptch1 Gene ◽  
Normal Controls

Background: Hirschsprung disease (HSCR) is a complex and heterogeneous disorder, characterized by a deficit in enteric nervous system. Genome-wide studies implied GABRG2, RELN and NRG3 might be involved in HSCR etiology. Here, we aimed to assess genetic variants in GABRG2, RELN and NRG3 that may confer susceptibility to HSCR and explore genetic interaction networks in HSCR. Methods: Using a strategy that combined case-control study and gene-gene interaction analysis with the MassArray system, we evaluated 24 polymorphisms within GABRG2, RELN and NRG3 in 104 HSCR cases and 151 normal controls of Han Chinese origin. Results: We observed that seven polymorphisms showed statistically significant differences between HSCR subjects and normal controls. For each of the three genes, the haplotypes which combined eight markers were the most significant. Moreover, we recruited SNPsyn, GO enrichment and MDR analyses to interrogate the interactions among GABRG2, RELN, NRG3 and our previous identified PTCH1 gene. Significant interaction networks were found among GABRG2, RELN, and PTCH1. Conclusion: We provide a first indication that common variants of GABRG2, RELN and NRG3 and the GABRG2-RELN-PTCH1 interaction networks might confer altered susceptibility to HSCR in the Han Chinese population, suggesting a potential mechanism underlying HSCR pathogenesis.

Variable expression of naevoid basal cell carcinoma syndrome in a family with a novel mutation in the PTCH1 gene

2011 ◽  
Vol 37 (3) ◽  
pp. 311-313 ◽  
Author(s):  
J. Alonso-González ◽  
E. Gutiérrez-González ◽  
V. Fernández-Redondo ◽  
A. Vega-Gliemmo ◽  
J. Toribio
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Novel Mutation ◽  
Variable Expression ◽  
Ptch1 Gene
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