Výsledky vyhledávání

Akademický článek

Transcription factor 7-like 2 gene links increased in vivo insulin synthesis to type 2 diabetes

Autor: Sjaam Jainandunsing, H. Rita Koole, Joram N.I. van Miert, Trinet Rietveld, J.L. Darcos Wattimena, Eric J.G. Sijbrands, Felix W.M. de Rooij

Publikováno v: EBioMedicine, Vol 30, Iss , Pp 295-302 (2018)

Transcription factor 7-like 2 (TCF7L2) is the main susceptibility gene for type 2 diabetes, primarily through impairing the insulin secretion by pancreatic β cells. However, the exact in vivo mechanisms remain poorly understood. We performed a famil

Externí odkaz: https://doaj.org/article/36e579999d6240f29c3b34791b027624

Zobrazit plný text záznamu

Peutz-Jeghers syndrome: 78-year follow-up of the original family

Autor: Patrick P.C. Boor, Anne Marie Westerman, Mark M. Entius, J. H. Paul Wilson, Felix W. M. de Rooij, Dick Lindhout, G. Johan A. Offerhaus, Ellen de Baar, M. Loes F Van Velthuysen, Rita Koole

Publikováno v: Lancet (UK), 353(9160), 1211-1215. Elsevier Ltd.
Lancet, 353(9160), 1211-1215. Elsevier Limited

Summary Background The association between heredity, gastrointestinal polyposis, and mucocutaneous pigmentation in Peutz-Jeghers syndrome (PJS) was first recognised in 1921 by Peutz in a Dutch family. This original family has now been followed-up for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df546002be0b9dfdc2a6cc7e3da9ba68
https://doi.org/10.1016/s0140-6736(98)08018-0

Zobrazit plný text záznamu

Plný text ve formátu HTML

Novel mutations in theLKB1/STK11 gene in Dutch Peutz-Jeghers families

Autor: G. Johan A. Offerhaus, J. H. Paul Wilson, Anne Marie Westerman, Patrick P.C. Boor, Rita Koole, Dicky J. J. Halley, Jan Lubinski, Mark M. Entius, Ellen de Baar, Felix W. M. de Rooij, Dick Lindhout

Publikováno v: Human mutation, 13(6), 476-481. Wiley-Liss Inc.

The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9efc648a451043abaa1105a57d9b77
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<476::aid-humu7>3.0.co

Zobrazit plný text záznamu