Screening for rare variants in the PNPLA3 gene in obese liver biopsy patients

Autor: An Verrijken, M. Ruppert, Evi Aerts, Peter Michielsen, Sven Francque, Fenna de Freitas, Wim Van Hul, Luc Van Gaal, Sigri Beckers, Doreen Zegers, Guy Hubens

Publikováno v: Clinics and research in hepatology and gastroenterology

Background: Previous research has clearly implicated the PNPLA3 gene in the etiology of nonalcoholic fatty liver disease as a polymorphism in the gene was found to be robustly associated to the disease. However, data on the involvement of rare PNPLA3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1086f37393041a1694cf56e761168b2
https://doi.org/10.1016/j.clinre.2016.05.004

Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms

Autor: Filip Vanhoenacker, Stefan Goemaere, Hans-Georg Zmierczak, René Westhovens, Greet Beyens, Piet Geusens, Leon Verbruggen, Steven Boonen, Wim Van Hul, Jan Van Offel, Jean-Pierre Devogelaer, Fenna de Freitas, Pui Yan Jenny Chung

Publikováno v: Molecular genetics and metabolism
Molecular Genetics and Metabolism, 103(3), 287-292. Academic Press Inc.

Paget's disease of bone (PDB) is, after osteoporosis, the second most common metabolic bone disorder in the elderly Caucasian population. Mutations in the sequestosome 1 gene (SQSTM1) are responsible for the etiology of PDB in a subset of patients, b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2b8aa19e2fee848b350ac58d38c93a
https://cris.maastrichtuniversity.nl/en/publications/14797f57-6123-45d4-a424-a72c93e046f3

Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function*

Autor: Peter Itin, Eveline Boudin, Markus Schirle, Nadine Charara, Michaela Kneissel, Feliciano Jesús Ramos Fuentes, Fenna de Freitas, Chris Lu, Andreas Bauer, Olivier Leupin, Shou-Ih Hu, Manuel Bueno-Lozano, Elke Piters, Hilmar Ebersbach, Ina Kramer, Frederic Morvan, Barbara Brannetti, Wim Van Hul, Sabine Geisse, Christine Halleux, Tewis Bouwmeester, Karen Jennes

Publikováno v: Journal of Biological Chemistry; Vol 286
Journal of biological chemistry

Humans lacking sclerostin display progressive bone overgrowth due to increased bone formation. Although it is well established that sclerostin is an osteocyte-secreted bone formation inhibitor, the underlying molecular mechanisms are not fully elucid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ee989aa66218d27037c336165ff0a9

No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders

Autor: Eveline Boudin, David Tegay, Geert Mortier, Fenna de Freitas, Karen Jennes, Wim Van Hul

Publikováno v: Bone

Since the identification of LRP5 as the causative gene for the osteoporosis pseudoglioma syndrome (OPPG) as well as the high bone mass (HBM) phenotype, LRP5 and the Wnt/beta-catenin signaling have been extensively studied for their role in the differ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b238986b2a62230fabf7a7358662f4d
https://pubmed.ncbi.nlm.nih.gov/23563356

Association study of polymorphisms in the SOST gene region and parameters of bone strength and body composition in both young and elderly men : data from the Odense Androgen Study

Autor: Elke Piters, Marianne Andersen, Fenna de Freitas, Kim Brixen, Wim Van Hul, Torben Leo Nielsen

Publikováno v: Calcified tissue international
Piters, E, de Freitas, F, Nielsen, T L, Andersen, M, Brixen, K & Van Hul, W 2011, ' Association Study of Polymorphisms in the SOST Gene Region and Parameters of Bone Strength and Body Composition in Both Young and Elderly Men: Data from the Odense Androgen Study ', Calcified Tissue International, vol. 90, no. 1, pp. 30-39 . https://doi.org/10.1007/s00223-011-9546-5

By means of different genetic association studies the SOST gene, encoding sclerostin, has repeatedly been suggested to regulate bone mineral density (BMD) and osteoporosis susceptibility. This study aimed at a further understanding of the importance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1fe3299187f78a1419e4f78d05d12e8
https://hdl.handle.net/10067/962490151162165141