(Q34355050)

English

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

8

object named as

Charis Eng

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Europe PubMed Central

PubMed publication ID

1 August 2017

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Salud Borrego

1

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Europe PubMed Central

PubMed publication ID

1 August 2017

Fred A Wright

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Raquel M Fernández

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Nita Williams

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Manuel López-Alonso

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Ramana Davuluri

6

1 reference

Europe PubMed Central

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1 August 2017

Guillermo Antiñolo

7

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Europe PubMed Central

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1 August 2017

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publication date

9 December 2002

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Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

1 August 2017

72

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Europe PubMed Central

PubMed publication ID

1 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

88-100

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

A high-resolution recombination map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Glucocorticoids differentially inhibit expression of the RET proto-oncogene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

RET proto-oncogene in the development of human cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

The DCC gene product induces apoptosis by a mechanism requiring receptor proteolysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Automated fluorescent analysis procedure for enzymatic mutation detection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Endothelin receptor-mediated signaling in hirschsprung disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Induction of apoptosis by the low-affinity NGF receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Catalytic specificity of protein-tyrosine kinases is critical for selective signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

Ret gene silencing is associated with Raf-1-induced medullary thyroid carcinoma cell differentiation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

A genetic study of Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

6 July 2018

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

28 July 2018

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

28 July 2018

DMLE+: Bayesian linkage disequilibrium gene mapping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

27 October 2018

High-resolution haplotype structure in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

27 October 2018

Loss of function effect of RET mutations causing Hirschsprung disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

27 October 2018

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420016

9 December 2018

Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel polymorphism in the coding sequence of the human RET proto-oncogene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of theRET protooncogene in sporadic medullary thyroid carcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low frequency of RET mutations in Hirschsprung disease in Sweden

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/12474140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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