RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. (Q43261905)

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9 February 2020

title

RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest (English)

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9 February 2020

8

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9 February 2020

author name string

Eliska Vaclavikova

1

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9 February 2020

Sarka Dvorakova

2

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9 February 2020

Vlasta Sykorova

3

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9 February 2020

Radovan Bilek

4

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9 February 2020

Katerina Dvorakova

5

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9 February 2020

Petr Vlcek

6

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9 February 2020

Richard Skaba

7

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9 February 2020

Bela Bendlova

9

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publication date

14 October 2009

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9 February 2020

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9 February 2020

volume

36

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9 February 2020

issue

3

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9 February 2020

page(s)

419-424

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https://scigraph.springernature.com/pub.10.1007/s12020-009-9242-7

9 February 2020

exact match

0 references

cites work

RET germline mutation in codon 791 in a family representing 3 generations from age 5 to age 70 years: should thyroidectomy be performed?

1 reference

Crossref

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Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma?

21 January 2018

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Double germline mutations in the RET Proto-oncogene in MEN 2A and MEN 2B kindreds

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Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma

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Frequency of RET proto-oncogene mutations in patients with normal and with moderately elevated pentagastrin-stimulated serum concentrations of calcitonin.

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Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations

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Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred: evaluation of phenotype-modifying effect of germline variants

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

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RET proto-oncogene mutations affecting codon 790/791: A mild form of multiple endocrine neoplasia type 2A syndrome?

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Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791.

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12 December 2020

Codon Y791F mutations in a large kindred: is prophylactic thyroidectomy always indicated?

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Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma

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Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2.

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

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A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A

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Molecular mechanisms of RET-induced Hirschsprung pathogenesis

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Risk-oriented approach to hereditary adrenal pheochromocytoma

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Timing and extent of surgery in patients with familial medullary thyroid carcinoma/multiple endocrine neoplasia 2A-related RET mutations not affecting codon 634.

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Evaluation of potential mechanisms underlying genotype-phenotype correlations in multiple endocrine neoplasia type 2.

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Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation

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Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis

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Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation.

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A RET Mutation with Decreased Penetrance in the Family of a Patient with a

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Surgical strategy in a kindred with a rare RET protooncogene mutation of variable penetrance with regard to multiple endocrine neoplasia

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Frequency of RET mutations in long- and short-segment Hirschsprung disease

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12 December 2020

Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism

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Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice

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The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease

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Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.

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12 December 2020

The occurrence and the type of germline mutations in the RET gene in patients with medullary thyroid carcinoma and their unaffected kindred's from Central Poland

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RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.

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12 December 2020

Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic.

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Hirschsprung's disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench.

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Hirschsprung disease, associated syndromes and genetics: a review

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Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype

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12 December 2020