Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Menin

Das MEN1-Gen kodiert ein Tumor-Suppressor-Gen, welche in die epigenetische Modifikation von Histonen involviert ist. Mutationen führen zur autosomal dominanten Erkrankung der multiplen endokrinen Neoplasie Typ 1.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Nebennierenadenom
MEN1
Angiofibrom
MEN1
Karzinoidtumore der Lunge
MEN1
Lipom
MEN1
Multiple endokrine Neoplasie 1
MEN1
Nebenschilddrüsenadenom
MEN1

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