Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

Autor: Anne M L Jansen, Marije A Geilenkirchen, Tom van Wezel, Shantie C Jagmohan-Changur, Dina Ruano, Heleen M van der Klift, Brendy E W M van den Akker, Jeroen F J Laros, Michiel van Galen, Anja Wagner, Tom G W Letteboer, Encarna B Gómez-García, Carli M J Tops, Hans F Vasen, Peter Devilee, Frederik J Hes, Hans Morreau, Juul T Wijnen

Publikováno v: PLoS ONE, Vol 11, Iss 6, p e0157381 (2016)

BACKGROUND AND AIMS:Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer cases are categorized as suspected Lynch Syndrome (sLS) because no path

Externí odkaz: https://doaj.org/article/d3a653d49cec4ce4a0f3cab6d6023e4e

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans

Autor: Tom G. W. Letteboer, Ritu Roy, Michael Benzinou, Gaeten Lesca, Dominique S. Meyer, Sophie Dupuis-Girod, Akiko Tochimoto-Okamoto, Frederic F. Clermont, Gloria Wu, Kyoko Kawasaki, Rosemary J. Akhurst, Robert J. Coffey, Johannes Kristian Ploos Van Amstel, Marie Mei Lee, S. Giraud, C.J.J. Westermann, Julia Freimuth

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, vol 111, iss 21
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Outcome of TGFβ1 signaling is context dependent and differs between individuals due to germ-line genetic variation. To explore innate genetic variants that determine differential outcome of reduced TGFβ1 signaling, we dissected the modifier locus T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce980d6a9d48217c47c75034501ced81
https://pubmed.ncbi.nlm.nih.gov/24812125

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Autor: Silvia Espejel, Michael Benzinou, Sophie Dupuis-Girod, Tom G. W. Letteboer, Bradley E. Aouizerat, Musa Zaid, David A. Quigley, Sophie Giraud, C.J.J. Westermann, Rosemary J. Akhurst, Johannes Kristian Ploos Van Amstel, Jai-Hyun Kim, Juan Arbelaez, Frederic F. Clermont, Gaetan Lesca, Henri Plauchu, Christopher C.W. Hughes, Mamie Nakayama Higgins, Minh Thu Luu, Ritu Roy, Kelly A. Harradine

Publikováno v: Nature Communications. 3

Hereditary haemorrhagic telangiectasia (HHT) [corrected] is a vascular dysplasia syndrome caused by mutations in transforming growth factor-β/bone morphogenetic protein pathway genes, ENG and ACVRL1. HHT [corrected] shows considerable variation in c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e28eff322369641107410c74860a272c
https://doi.org/10.1038/ncomms1633