Molecular genetics of multiple endocrine neoplasia types 1 and 2. (Q36111935)

12 August 2017

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title

Molecular genetics of multiple endocrine neoplasia types 1 and 2. (English)

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multiple endocrine neoplasia

12 August 2017

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Stephen J Marx

1

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PubMed ID

15864278

12 August 2017

language of work or name

English

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publication date

1 May 2005

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12 August 2017

Nature Reviews Cancer

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12 August 2017

5

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12 August 2017

5

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12 August 2017

367-375

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https://scigraph.springernature.com/pub.10.1038/nrc1610

12 August 2017

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cites work

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Transfection of the multiple endocrine neoplasia type 1 gene to a human endocrine pancreatic tumor cell line inhibits cell growth and affects expression of JunD, delta-like protein 1/preadipocyte factor-1, proliferating cell nuclear antigen, and QM/

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Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1.

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Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors

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A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors

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Of mice and MEN1: Insulinomas in a conditional mouse knockout

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Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1.

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Genetic ablation of the tumor suppressor menin causes lethality at mid-gestation with defects in multiple organs.

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Conditional inactivation of the MEN1 gene leads to pancreatic and pituitary tumorigenesis but does not affect normal development of these tissues

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Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma

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The discovery of receptor tyrosine kinases: targets for cancer therapy

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Oncogenic kinase signalling

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A Novel Germ-Line Point Mutation in RET Exon 8 (Gly533Cys) in a Large Kindred with Familial Medullary Thyroid Carcinoma

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V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers

21 January 2018

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Identification of a novel point mutation in the RET gene (Ala883Thr), which is associated with medullary thyroid carcinoma phenotype only in homozygous condition

21 January 2018

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Early Malignant Progression of Hereditary Medullary Thyroid Cancer

21 January 2018

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Development of medullary thyroid carcinoma in transgenic mice expressing the RET protooncogene altered by a multiple endocrine neoplasia type 2A mutation

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A human yeast artificial chromosome containing the multiple endocrine neoplasia type 2B Ret mutation does not induce medullary thyroid carcinoma but does support the growth of kidneys and partially rescues enteric nervous system development in Ret-d

21 January 2018

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C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B

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The molecular pathogenesis of hereditary and sporadic adrenocortical and adrenomedullary tumors

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Germline RET 634 mutation positive MEN 2A-related C-cell hyperplasias have genetic features consistent with intraepithelial neoplasia

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Amplification and overexpression of mutant RET in multiple endocrine neoplasia type 2-associated medullary thyroid carcinoma.

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Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma

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Menin, the product of the MEN1 gene, is a nuclear protein

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Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription

21 January 2018

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Identification and characterization of JunD missense mutants that lack menin binding

21 January 2018

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Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter

21 January 2018

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Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus

21 January 2018

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Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression

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Extending the repertoire of the mixed-lineage leukemia gene MLL in leukemogenesis

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Menin induces apoptosis in murine embryonic fibroblasts

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Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1.

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RET and neuroendocrine tumors

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Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer

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A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2.

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Identification of RET autophosphorylation sites by mass spectrometry

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Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors

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Chemical genomic profiling to identify intracellular targets of a multiplex kinase inhibitor.

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Ras-mediated apoptosis of PC CL 3 rat thyroid cells induced by RET/PTC oncogenes

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Functional collaboration between different cyclin-dependent kinase inhibitors suppresses tumor growth with distinct tissue specificity

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Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.

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Hereditary hormone excess: genes, molecular pathways, and syndromes

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Somatic mutation of the MEN1 gene in parathyroid tumours.

31 March 2020

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Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

31 March 2020

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Familial Somatotropinomas

31 March 2020

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Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1.

31 March 2020

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Heterozygous Men1 mutant mice develop a range of endocrine tumors mimicking multiple endocrine neoplasia type 1

31 March 2020

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Immunohistochemical study of 100 pancreatic tumors in 28 patients with multiple endocrine neoplasia, type I

31 March 2020

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The RET receptor: function in development and dysfunction in congenital malformation

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Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation

31 March 2020

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Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation

31 March 2020

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Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.

31 March 2020

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Premature centromere division in patients with multiple endocrine neoplasia type 1

31 March 2020

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Quantitative phenotyping as an efficient means to estimate C-cell number in a knock-in mouse model of MEN2B

31 March 2020

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Hereditary cancer: two hits revisited

31 March 2020

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Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma

31 March 2020

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Menin molecular interactions: insights into normal functions and tumorigenesis.

31 March 2020

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The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene

31 March 2020

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Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability.

31 March 2020

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Molecular mechanisms of RET activation in human cancer.

31 March 2020

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The RET receptor is linked to stress response pathways

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRC1610

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12 August 2017

1 reference

PubMed ID

15864278