Výsledky vyhledávání - "Fenna de Freitas"

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

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A common LRP4 haplotype is associated with bone mineral density and hip geometry in men—Data from the Odense Androgen Study (OAS)

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

Publikováno v: Bone
Boudin, E, Steenackers, E, Freitas, F D, Nielsen, T L, Andersen, M, Brixen, K, Hul, W V & Piters, E 2013, ' A common LRP4 haplotype is associated with bone mineral density and hip geometry in men-Data from the Odense Androgen Study (OAS) ', Bone, vol. 53, no. 2, pp. 414-420 . https://doi.org/10.1016/j.bone.2013.01.014

Osteoporosis is a common disease characterized by an increased susceptibility to fracture. It is a complex disorder resulting from the interaction of several polymorphisms in different genes and environmental factors. Since we recently reported a rol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba02bb13482f3990d75bb421a52e554
https://doi.org/10.1016/j.bone.2013.01.014

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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

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Identification and functional characterization of a missense mutation in resistin in two patients with severe obesity and insulin resistance

Autor: Wim Van Hul, Frida Peiffer, Doreen Zegers, Ilse Mertens, Fenna de Freitas, Kristine Desager, Luc Van Gaal, Sigri Beckers, Armand V. Peeters, Guy Massa, Stijn Verhulst, An Verrijken

Publikováno v: European journal of endocrinology

ObjectiveIn this study, we hypothesized that mutations in the resistin encoding gene, RETN, may cause a monogenic form of obesity.Design/methodsWe screened the coding region of RETN in 81 morbidly obese adults, 263 overweight and obese children/adole

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01f5fa29345830e02bd119017c9b590f
https://doi.org/10.1530/eje-10-1080

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

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

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Investigation of common and rare genetic variation in the BAMBI genomic region in light of human obesity

Autor: Stijn Verhulst, An Verrijken, Kristine Desager, Wim Van Hul, Kim Van Hoorenbeeck, Jasmijn K. Van Camp, Fenna de Freitas, Doreen Zegers, Luc Van Gaal, Sigri Beckers, Guy Massa

Publikováno v: Endocrine

The aim of this study was to confirm the previously identified link between BAMBI and human obesity by means of a genetic and functional analysis. We performed both a mutation analysis, using high-resolution melting curve analysis, and a genetic asso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6458d3217dc0ad9262a540dc3088480
https://hdl.handle.net/10067/1289390151162165141

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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

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Identification of mutations in the NUCB2/nesfatin gene in children with severe obesity

Autor: Fenna de Freitas, Luc Van Gaal, Sigri Beckers, Doreen Zegers, Ilse Mertens, Raoul Rooman, Guy Massa, Jasmijn K. Van Camp, Karen Jennes, Kristine Desager, Wim Van Hul, Kim Van Hoorenbeeck

Publikováno v: Molecular genetics and metabolism

Nesfatin-1 is the N-terminal fragment of nucleobindin-2 (NUCB2) that was identified as a novel satiety molecule in rodents. The protein is reported to exert anorexigenic effects and appears to play an important role in hypothalamic pathways regulatin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84cd73c73e9d86531b2198b1d95f562
https://pubmed.ncbi.nlm.nih.gov/23141462

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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

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Association study of MC4R with complex obesity and replication of the rs17782313 association signal

Autor: Doreen Zegers, Wim Van Hul, Ilse Mertens, Luc Van Gaal, Sigri Beckers, Fenna de Freitas

Publikováno v: Molecular genetics and metabolism

Recently, genome-wide association studies have discovered several single nucleotide polymorphisms (SNPs) involved in the etiology of complex obesity. A variant downstream from the melanocortin-4 receptor gene (MC4R), a gene known to be involved in mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3faccc60d5af0a5f3dc406d4bba22ec1
https://pubmed.ncbi.nlm.nih.gov/21303735

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