(Q35000877)

5 August 2017

title

Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population (English)

1 reference

5 August 2017

Yang Wang

1

1 reference

5 August 2017

Jun Wang

2

1 reference

5 August 2017

Weihua Pan

3

1 reference

5 August 2017

Ying Zhou

4

1 reference

5 August 2017

Yongtao Xiao

5

1 reference

5 August 2017

Kejun Zhou

6

1 reference

5 August 2017

Jie Wen

7

1 reference

5 August 2017

Tingxi Yu

8

1 reference

5 August 2017

Wei Cai

9

1 reference

5 August 2017

language of work or name

English

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publication date

20 September 2013

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5 August 2017

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5 August 2017

volume

8

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5 August 2017

issue

9

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5 August 2017

page(s)

e75407

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Creative Commons Attribution 4.0 International

5 August 2017

copyright license

start time

20 September 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Aberrant methylation of the PTCH1 gene promoter region in aberrant crypt foci

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Hedgehog beyond medulloblastoma and basal cell carcinoma

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Enteric nervous system development: Recent progress and future challenges.

8 July 2018

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Genetic basis of Hirschsprung's disease.

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Common genetic variation and human disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Hirschsprung disease, associated syndromes and genetics: a review

8 July 2018

1 reference

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PLINK: a tool set for whole-genome association and population-based linkage analyses

8 July 2018

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G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences

8 July 2018

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Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies

8 July 2018

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Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population

8 July 2018

1 reference

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Neural crest and the development of the enteric nervous system

8 July 2018

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Allelic loss at Drosophila patched gene is highly prevalent in Basal and squamous cell carcinomas of the skin

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Genome-wide association studies for common diseases and complex traits

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Haploview: analysis and visualization of LD and haplotype maps

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Alternative first exons of PTCH1 are differentially regulated in vivo and may confer different functions to the PTCH1 protein

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Patterns of linkage disequilibrium in the human genome

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Controlling the false discovery rate in behavior genetics research

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Hedgehog signals regulate multiple aspects of gastrointestinal development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3779180

Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0075407

Correlation between genetic variations in Hox clusters and Hirschsprung's disease.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0075407

Pedigree disequilibrium tests for multilocus haplotypes.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0075407

Neural crest regionalisation for enteric nervous system formation: implications for Hirschsprung's disease and stem cell therapy

21 January 2018

1 reference

12 December 2020

Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome

1 reference

12 December 2020

Sonic hedgehog--regulated oligodendrocyte lineage genes encoding bHLH proteins in the mammalian central nervous system

1 reference

12 December 2020

SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0075407

Identifiers

DOI

1 reference

5 August 2017

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1 reference

5 August 2017

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