Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

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Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

Georgitsi, Marianthi (författare): Department of Medical Genetics, 00014 University of Helsinki, Finland

Raitila, Anniina (författare): Department of Medical Genetics, 00014 University of Helsinki, Finland

Karhu, Auli (författare): Department of Medical Genetics, 00014 University of Helsinki, Finland

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van der Luijt, Rob B (författare): Department of Medical Genetics, University Medical Centre Utrecht, 3508 GA Utrecht, The Netherlands

Aalfs, Cora M (författare): Department of Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands

Sane, Timo (författare): Department of Endocrinology, Helsinki University Central Hospital, 00029 Helsinki, Finland

Vierimaa, Outi (författare): Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland

Mäkinen, Markus J (författare): Department of Pathology, University of Oulu, 90014 Oulu, Finland

Tuppurainen, Karoliina (författare): Department of Pathology, University of Oulu, 90014 Oulu, Finland

Paschke, Ralph (författare): Medical Department III, Leipzig University, 04103 Leipzig, Germany

Gimm, Oliver (författare): Department of Surgery, Martin Luther University Halle-Wittenberg, 06120 Halle, Germany

Koch, Christian A (författare): Division of Endocrinology, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA

Gündogdu, Sadi (författare): Division of Endocrinology-Metabolism and Diabetes, Cerrahpaşa Medical Faculty, University of Istanbul, 34303 Istanbul, Turkey

Lucassen, Anneke (författare): Wessex Clinical Genetics Service, Princess Anne Hospital, SO16 5YA Southampton, United Kingdom

Tischkowitz, Marc (författare): Departments of Human Genetics, Oncology, and Medicine, McGill University, Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec, Canada H3T 1E2

Izatt, Louise (författare): Department of Clinical Genetics, New Guy’s House, Guy’s Hospital, London SE1 9RT, United Kingdom

Aylwin, Simon (författare): Department of Medicine, King’s College Hospital, Denmark Hill, London SE5 9RS, United Kingdom

Bano, Gul (författare): Department of Endocrinology and Diabetes, Thomas Addison Unit, London SW17 0QT, United Kingdom

Hodgson, Shirley (författare): Department of Clinical Genetics, St. Georges, University of London, London SW17 ORE, United Kingdom

De Menis, Ernesto (författare): Department of Internal Medicine, General Hospital, 31100 Treviso, Italy

Launonen, Virpi (författare): Department of Medical Genetics, 00014 University of Helsinki, Finland

Vahteristo, Pia (författare): Department of Medical Genetics, 00014 University of Helsinki, Finland

Aaltonen, Lauri A (författare): Department of Medical Genetics, 00014 University of Helsinki, Finland

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(creator_code:org_t)

The Endocrine Society, 2007
2007
Engelska.
Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 92:8, s. 3321-5

Relaterad länk:: https://academic.oup...; visa fler...; https://urn.kb.se/re...; https://doi.org/10.1...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

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CONTEXT: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients.OBJECTIVE: Our objective was to evaluate the role of CDKN1B/p27(Kip1) in human tumor predisposition in patients clinically suspected of MEN1 but testing negative for MEN1 germline mutation as well as in familial and sporadic acromegaly/pituitary adenoma patients.DESIGN: Genomic DNA was analyzed for germline mutations in the CDKN1B/p27(Kip1) gene by PCR amplification and direct sequencing.SETTING: The study was conducted at nonprofit academic research and medical centers.PATIENTS: Thirty-six Dutch and one German suspected MEN1 patient, who previously tested negative for germline MEN1 gene mutations, were analyzed. In addition, 19 familial and 50 sporadic acromegaly/pituitary adenoma patients from Europe and the United States were included in the study.MAIN OUTCOME MEASURES: We analyzed germline CDKN1B/p27(Kip1) mutations in individuals with pituitary adenoma and MEN1-like features.RESULTS: A heterozygous 19-bp duplication (c.59_77dup19) leading to a truncated protein product was identified in one Dutch patient with suspected MEN1 phenotype, pituitary adenoma, carcinoid tumor, and hyperparathyroidism (one of 36, 2.8%). No mutations were detected in either familial or sporadic acromegaly/pituitary adenoma patients.CONCLUSIONS: Our results support the previous finding that germline CDKN1B/p27(Kip1) mutations predispose to a human MEN1-like condition. However, such mutations appear uncommon in suspected MEN1 cases and rare or nonexistent in familial or sporadic acromegaly/pituitary adenoma patients.

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Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

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