Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Nebenschilddrüsenadenom

In einigen Nebenschilddrüsenadenomen können somatische Mutationen des MEN1-Gens gefunden werden.

Gliederung

Erkrankungen der Nebenschilddrüse
Humorale paraneoplastische Hypercalciämie
Hyperparathyreoidismus
Hypoparathyreoidismus
Karzinom der Nebenschilddrüse
Nebenschilddrüsenadenom
MEN1
Pseudohyperparathyreoidismus
Pseudohypoparathyreoidismus

Referenzen:

1.

Frank-Raue K et al. (2005) 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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2.

Lin SY et al. (2003) Multiple tumor suppressor pathways negatively regulate telomerase.

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3.

Bear JC et al. (1985) Variant multiple endocrine neoplasia I (MEN IBurin): further studies and non-linkage to HLA.

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4.

Farid NR et al. (1980) Prolactinomas in familial multiple endocrine neoplasia syndrome type I. Relationship to HLA and carcinoid tumors.

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5.

Chandrasekharappa SC et al. (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1.

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6.

Agarwal SK et al. (1997) Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

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7.

Lemmens I et al. (1997) Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

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8.

Darling TN et al. (1997) Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1.

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9.

Heppner C et al. (1997) Somatic mutation of the MEN1 gene in parathyroid tumours.

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10.

Debelenko LV et al. (1997) Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung.

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11.

Bassett JH et al. (1998) Characterization of mutations in patients with multiple endocrine neoplasia type 1.

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12.

Guru SC et al. (1998) Menin, the product of the MEN1 gene, is a nuclear protein.

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13.

Vortmeyer AO et al. (1998) Multiple endocrine neoplasia 1 gene alterations in MEN1-associated and sporadic lipomas.

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14.

Prezant TR et al. (1998) Molecular characterization of the men1 tumor suppressor gene in sporadic pituitary tumors.

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15.

Olufemi SE et al. (1998) Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland.

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16.

Giraud S et al. (1998) Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

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17.

Teh BT et al. (1998) Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

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18.

Farnebo F et al. (1998) Alterations of the MEN1 gene in sporadic parathyroid tumors.

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19.

Carling T et al. (1998) Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism.

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20.

Böni R et al. (1998) Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.

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21.

Teh BT et al. (1998) A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.

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22.

Fujimori M et al. (1998) Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism.

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23.

Heppner C et al. (1999) MEN1 gene analysis in sporadic adrenocortical neoplasms.

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24.

Agarwal SK et al. (1999) Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

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25.

Kjellman M et al. (1999) Genotyping of adrenocortical tumors: very frequent deletions of the MEN1 locus in 11q13 and of a 1-centimorgan region in 2p16.

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26.

Gisselsson D et al. (1999) Hibernomas are characterized by homozygous deletions in the multiple endocrine neoplasia type I region. Metaphase fluorescence in situ hybridization reveals complex rearrangements not detected by conventional cytogenetics.

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27.

Cebrián A et al. (1999) Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1.

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28.

Schulte KM et al. (1999) MEN I gene mutations in sporadic adrenal adenomas.

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29.

Tahara H et al. (2000) Rare somatic inactivation of the multiple endocrine neoplasia type 1 gene in secondary hyperparathyroidism of uremia.

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30.

Stratakis CA et al. (2000) Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1.

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31.

Crabtree JS et al. (2001) A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors.

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32.

Kaji H et al. (2001) Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling.

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33.

Pannett AA et al. (2001) Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis.

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34.

Guo SS et al. (2001) Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.

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35.

Sato K et al. (2001) Somatic mutations of the MEN1 gene and microsatellite instability in a case of tertiary hyperparathyroidism occurring during high phosphate therapy for acquired, hypophosphatemic osteomalacia.

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36.

Turner JJ et al. (2002) Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.

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37.

Wautot V et al. (2002) Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

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38.

Okamoto H et al. (2002) A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism.

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39.

Park JH et al. (2003) Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.

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40.

Zablewska B et al. (2003) Transcription regulation of the multiple endocrine neoplasia type 1 gene in human and mouse.

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41.

Balogh K et al. (2004) Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.

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42.

Ebeling T et al. (2004) Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations.

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43.

Carrasco CA et al. (2004) Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism.

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44.

Busygina V et al. (2004) Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1.

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45.

Yokoyama A et al. (2005) The menin tumor suppressor protein is an essential oncogenic cofactor for MLL-associated leukemogenesis.

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46.

Chen YX et al. (2006) The tumor suppressor menin regulates hematopoiesis and myeloid transformation by influencing Hox gene expression.

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47.

Jiao Y et al. (2011) DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

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48.

Canaff L et al. (2012) Impaired transforming growth factor-β (TGF-β) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1).

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49.

Huang J et al. (2012) The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.

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Update: 8. Juni 2020