In einigen Angiofibromen können somatische Mutationen des MEN1-Gens gefunden werden.
|Hereditäre maligne Bluterkrankungen|
|Infantiles kapilläres Hämangiom|
|Karzinoidtumore der Lunge|
|Multiple selbsheilende palmoplantare Karzinome|
|Neigung zu Kaposi-Sarkomen|
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Guo SS et al. (2001) Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.
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.
Turner JJ et al. (2002) Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
Agarwal SK et al. (1999) Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.
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.
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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Busygina V et al. (2004) Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1.
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Huang J et al. (2012) The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.
Guru SC et al. (1998) Menin, the product of the MEN1 gene, is a nuclear protein.
Jiao Y et al. (2011) DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.
Lin SY et al. (2003) Multiple tumor suppressor pathways negatively regulate telomerase.
Bear JC et al. (1985) Variant multiple endocrine neoplasia I (MEN IBurin): further studies and non-linkage to HLA.
Farid NR et al. (1980) Prolactinomas in familial multiple endocrine neoplasia syndrome type I. Relationship to HLA and carcinoid tumors.
Chandrasekharappa SC et al. (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1.
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Darling TN et al. (1997) Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1.
Heppner C et al. (1997) Somatic mutation of the MEN1 gene in parathyroid tumours.
Debelenko LV et al. (1997) Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung.
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Prezant TR et al. (1998) Molecular characterization of the men1 tumor suppressor gene in sporadic pituitary tumors.
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.
Giraud S et al. (1998) Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.
Teh BT et al. (1998) Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.
Farnebo F et al. (1998) Alterations of the MEN1 gene in sporadic parathyroid tumors.
Carling T et al. (1998) Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism.
Böni R et al. (1998) Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.
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.
Fujimori M et al. (1998) Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism.
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