(Q38010029)

26 August 2017

2 references

6 November 2020

25 June 2021

The Hirschsprung's-multiple endocrine neoplasia connection (English)

1 reference

26 August 2017

2 references

6 November 2020

25 June 2021

Hirschsprung's disease

1 reference

multiple endocrine neoplasia type 2A

6 November 2020

2 references

6 November 2020

25 June 2021

2 references

31 July 2019

25 June 2021

2 references

6 November 2020

25 June 2021

1 reference

6 November 2020

Sam W Moore

1 reference

26 August 2017

Monique Zaahl

series ordinal

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26 August 2017

language of work or name

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1 January 2012

1 reference

26 August 2017

16 references

26 August 2017

19 March 2019

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3 April 2019

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31 July 2019

2 August 2019

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28 September 2019

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18 December 2019

6 November 2020

25 June 2021

67 Suppl 1

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26 August 2017

63-67

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Creative Commons Attribution-NonCommercial 3.0 Unported

26 August 2017

15 references

19 March 2019

21 March 2019

24 March 2019

3 April 2019

22 April 2019

20 June 2019

30 June 2019

31 July 2019

2 August 2019

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18 December 2019

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on focus list of Wikimedia project

25 June 2021

ScienceSource

0 references

cites work

Solution structure of all parallel G-quadruplex formed by the oncogene RET promoter sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Familial prevalence and age of RET germline mutations: implications for screening

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Prophylactic thyroidectomy in pediatric carriers of multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma: mutation in C620 is associated with Hirschsprung's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

No one-way street: cross-talk between e-cadherin and receptor tyrosine kinase (RTK) signaling: a mechanism to regulate RTK activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

The neuron-specific Rai (ShcC) adaptor protein inhibits apoptosis by coupling Ret to the phosphatidylinositol 3-kinase/Akt signaling pathway.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Molecular mechanisms of RET activation in human cancer.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Guidelines for diagnosis and therapy of MEN type 1 and type 2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Oncological implications of RET gene mutations in Hirschsprung's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Identification of Shc docking site on Ret tyrosine kinase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Molecular heterogeneity of RET loss of function in Hirschsprung's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Mutations of the RET proto-oncogene in Hirschsprung's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Exon structure and flanking intronic sequences of the human RET proto-oncogene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Hirschsprung's disease in a family with multiple endocrine neoplasia type 2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Self-association of the transmembrane domain of RET underlies oncogenic activation by MEN2A mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Molecular defects in thyroid carcinomas: Role of the RET oncogene in thyroid neoplastic transformation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

In vitro transforming potential, intracellular signaling properties, and sensitivity to a kinase inhibitor (sorafenib) of RET proto-oncogene variants Glu511Lys, Ser649Leu, and Arg886Trp

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Ret oncogene signal transduction via a IRS-2/PI 3-kinase/PKB and a SHC/Grb-2 dependent pathway: possible implication for transforming activity in NIH3T3 cells

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Proto-oncogene RET somatic mutations in medullary thyroid carcinoma

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3328817

Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease

31 August 2018

1 reference

12 December 2020

Total thyroidectomy for hereditary medullary thyroid carcinoma 12 years after correction of Hirschsprung's disease

1 reference

12 December 2020

Gastrointestinal manifestations of Sipple syndrome in children

1 reference

12 December 2020

Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease

1 reference

12 December 2020

Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds

1 reference

12 December 2020

RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2

1 reference

12 December 2020

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation

1 reference

12 December 2020

Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene

1 reference

12 December 2020

Aganglionic megacolon, pheochromocytoma, megaloureter, and neurofibroma; co-occurrence of several neural abnormalities

1 reference

12 December 2020

A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease

1 reference

12 December 2020

10.6061/CLINICS/2012(SUP01)12

Identifiers

DOI

1 reference

26 August 2017

1 reference

26 August 2017

PubMed publication ID

22584708

1 reference