Zobrazeno 1 - 10
of 10
pro vyhledávání: '"LDL-Receptor Related Proteins/genetics"'
Autor:
Olav M. Andersen, Nikolaj Bøgh, Anne M. Landau, Gro G. Pløen, Anne Mette G. Jensen, Giulia Monti, Benedicte P. Ulhøi, Jens R. Nyengaard, Kirsten R. Jacobsen, Margarita M. Jørgensen, Ida E. Holm, Marianne L. Kristensen, Aage Kristian O. Alstrup, Esben S.S. Hansen, Charlotte E. Teunissen, Laura Breidenbach, Mathias Droescher, Ying Liu, Hanne S. Pedersen, Henrik Callesen, Yonglun Luo, Lars Bolund, David J. Brooks, Christoffer Laustsen, Scott A. Small, Lars F. Mikkelsen, Charlotte B. Sørensen
Publikováno v:
Andersen, O M, Bøgh, N, Landau, A M, Pløen, G G, Jensen, A M G, Monti, G, Ulhøi, B P, Nyengaard, J R, Jacobsen, K R, Jørgensen, M M, Holm, I E, Kristensen, M L, Alstrup, A K O, Hansen, E S S, Teunissen, C E, Breidenbach, L, Droescher, M, Liu, Y, Pedersen, H S, Callesen, H, Luo, Y, Bolund, L, Brooks, D J, Laustsen, C, Small, S A, Mikkelsen, L F & Sørensen, C B 2022, ' A genetically modified minipig model for Alzheimer's disease with SORL1 haploinsufficiency ', Cell reports. Medicine, vol. 3, no. 9, 100740 . https://doi.org/10.1016/j.xcrm.2022.100740
Andersen, O M, Bøgh, N, Landau, A M, Pløen, G G, Jensen, A M G, Monti, G, Ulhøi, B P, Nyengaard, J R, Jacobsen, K R, Jørgensen, M M, Holm, I E, Kristensen, M L, Alstrup, A K O, Hansen, E S S, Teunissen, C E, Breidenbach, L, Droescher, M, Liu, Y, Pedersen, H S, Callesen, H, Luo, Y, Bolund, L, Brooks, D J, Laustsen, C, Small, S A, Mikkelsen, L F & Sørensen, C B 2022, ' A genetically modified minipig model for Alzheimer's disease with SORL1 haploinsufficiency ', Cell Reports Medicine, vol. 3, no. 9, 100740 . https://doi.org/10.1016/j.xcrm.2022.100740
Cell Reports Medicine, 3(9):100740. Cell Press
Andersen, O M, Bøgh, N, Landau, A M, Pløen, G G, Jensen, A M G, Monti, G, Ulhøi, B P, Nyengaard, J R, Jacobsen, K R, Jørgensen, M M, Holm, I E, Kristensen, M L, Alstrup, A K O, Hansen, E S S, Teunissen, C E, Breidenbach, L, Droescher, M, Liu, Y, Pedersen, H S, Callesen, H, Luo, Y, Bolund, L, Brooks, D J, Laustsen, C, Small, S A, Mikkelsen, L F & Sørensen, C B 2022, ' A genetically modified minipig model for Alzheimer's disease with SORL1 haploinsufficiency ', Cell Reports Medicine, vol. 3, no. 9, 100740 . https://doi.org/10.1016/j.xcrm.2022.100740
Cell Reports Medicine, 3(9):100740. Cell Press
The established causal genes in Alzheimer's disease (AD), APP, PSEN1, and PSEN2, are functionally characterized using biomarkers, capturing an in vivo profile reflecting the disease's initial preclinical phase. Mutations in SORL1, encoding the endoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::692217e27d26c70f47e5caa412c77719
https://vbn.aau.dk/da/publications/871f36d7-57e4-414a-9919-50f1b6541ce5
https://vbn.aau.dk/da/publications/871f36d7-57e4-414a-9919-50f1b6541ce5
Publikováno v:
Alzheimer's Research & Therapy. 14(1)
BACKGROUND: Many families with clinical early-onset Alzheimer's disease (EOAD) remain genetically unexplained. A combination of genetic factors is not standardly investigated. In addition to monogenic causes, we evaluated the possible polygenic archi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::94e6520a02194573961fab0b4e6f27b0
https://doi.org/10.1186/s13195-022-01018-3
https://doi.org/10.1186/s13195-022-01018-3
Autor:
Mol, Merel O, van der Lee, Sven J, Hulsman, Marc, Pijnenburg, Yolande A L, Scheltens, Phillip, Seelaar, Harro, van Swieten, John C, Kaat, Laura Donker, Holstege, Henne, van Rooij, Jeroen G J
Publikováno v:
Alzheimer's Research & Therapy, 14(1). BioMed Central
BACKGROUND: Many families with clinical early-onset Alzheimer's disease (EOAD) remain genetically unexplained. A combination of genetic factors is not standardly investigated. In addition to monogenic causes, we evaluated the possible polygenic archi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::64aada2bcb467045ee00c94920f100ea
https://pure.knaw.nl/portal/en/publications/102fce40-6ae3-4c99-ae66-c238b09fd088
https://pure.knaw.nl/portal/en/publications/102fce40-6ae3-4c99-ae66-c238b09fd088
Autor:
van Meurs, Joyce B J, Trikalinos, Thomas A, Ralston, Stuart H, Balcells, Susana, Brandi, Maria Luisa, Brixen, Kim, Kiel, Douglas P, Langdahl, Bente L, Lips, Paul, Ljunggren, Osten, Lorenc, Roman, Obermayer-Pietsch, Barbara, Ohlsson, Claes, Pettersson, Ulrika, Reid, David M, Rousseau, Francois, Scollen, Serena, Van Hul, Wim, Agueda, Lidia, Akesson, Kristina, Benevolenskaya, Lidia I, Ferrari, Serge L, Hallmans, Göran, Hofman, Albert, Husted, Lise Bjerre, Kruk, Marcin, Kaptoge, Stephen, Karasik, David, Karlsson, Magnus K, Lorentzon, Mattias, Masi, Laura, McGuigan, Fiona E A, Mellström, Dan, Mosekilde, Leif, Nogues, Xavier, Pols, Huibert A P, Reeve, Jonathan, Renner, Wilfried, Rivadeneira, Fernando, van Schoor, Natasja M, Weber, Kurt, Ioannidis, John P A, Uitterlinden, André G
Publikováno v:
van Meurs, J B J, Trikalinos, T A, Ralston, S H, Balcells, S, Brandi, M L, Brixen, K, Kiel, D P, Langdahl, B L, Lips, P T A M, Ljunggren, O, Lorenc, R, Obermayer-Pietsch, B, Ohlsson, C, Pettersson, U, Reid, D M, Rousseau, F, Scollen, S, Van Hul, W, Agueda, L, Akesson, K, Benevolenskaya, L I, Ferrari, S L, Hallmans, G, Hofman, A, Husted, L B, Kruk, M, Kaptoge, S, Karasik, D, Karlsson, M K, Lorentzon, M, Masi, L, McGuigan, F E A, Mellstrom, D, Mosekilde, L, Nogues, X, Pols, H A P, Reeve, J, Renner, W, Rivadeneira, F, van Schoor, N M, Weber, K, Ioannidis, J P A & Uitterlinden, A G 2008, ' Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis ', JAMA, vol. 299, no. 11, pp. 1277-1290 . https://doi.org/10.1001/jama.299.11.1277
van Meurs, J B J, Trikalinos, T A, Ralston, S H, Balcells, S, Brandi, M L, Brixen, K, Kiel, D P, Langdahl, B L, Lips, P, Ljunggren, O, Lorenc, R, Obermayer-Pietsch, B, Ohlsson, C, Pettersson, U, Reid, D M, Rousseau, F, Scollen, S, Van Hul, W, Agueda, L, Akesson, K, Benevolenskaya, L I, Ferrari, S L, Hallmans, G, Hofman, A, Husted, L B, Kruk, M, Kaptoge, S, Karasik, D, Karlsson, M K, Lorentzon, M, Masi, L, McGuigan, F E A, Mellstrom, D, Mosekilde, L, Nogues, X, Pols, H A P, Reeve, J, Renner, W, Rivadeneira, F, van Schoor, N M, Weber, K, Ioannidis, J P A, Uitterlinden, A G 2008, ' Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis ', Journal of the American Medical Association, vol. 299, no. 11, pp. 1277-1290 . https://doi.org/10.1001/jama.299.11.1277
JAMA, 299(11), 1277-1290. American Medical Association
JAMA-Journal of the American Medical Association, 299(11), 1277-1290. American Medical Association
van Meurs, J B J, Trikalinos, T A, Ralston, S H, Balcells, S, Brandi, M L, Brixen, K, Kiel, D P, Langdahl, B L, Lips, P, Ljunggren, O, Lorenc, R, Obermayer-Pietsch, B, Ohlsson, C, Pettersson, U, Reid, D M, Rousseau, F, Scollen, S, Van Hul, W, Agueda, L, Akesson, K, Benevolenskaya, L I, Ferrari, S L, Hallmans, G, Hofman, A, Husted, L B, Kruk, M, Kaptoge, S, Karasik, D, Karlsson, M K, Lorentzon, M, Masi, L, McGuigan, F E A, Mellström, D, Mosekilde, L, Nogues, X, Pols, H A P, Reeve, J, Renner, W, Rivadeneira, F, van Schoor, N M, Weber, K, Ioannidis, J P A, Uitterlinden, A G & GENOMOS Study 2008, ' Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. ', JAMA: The Journal of the American Medical Association, vol. 299, no. 11, pp. 1277-90 . https://doi.org/10.1001/jama.299.11.1277
van Meurs, J B J, Trikalinos, T A, Ralston, S H, Balcells, S, Brandi, M L, Brixen, K, Kiel, D P, Langdahl, B L, Lips, P, Ljunggren, O, Lorenc, R, Obermayer-Pietsch, B, Ohlsson, C, Pettersson, U, Reid, D M, Rousseau, F, Scollen, S, Van Hul, W, Agueda, L, Akesson, K, Benevolenskaya, L I, Ferrari, S L, Hallmans, G, Hofman, A, Husted, L B, Kruk, M, Kaptoge, S, Karasik, D, Karlsson, M K, Lorentzon, M, Masi, L, McGuigan, F E A, Mellstrom, D, Mosekilde, L, Nogues, X, Pols, H A P, Reeve, J, Renner, W, Rivadeneira, F, van Schoor, N M, Weber, K, Ioannidis, J P A, Uitterlinden, A G 2008, ' Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis ', Journal of the American Medical Association, vol. 299, no. 11, pp. 1277-1290 . https://doi.org/10.1001/jama.299.11.1277
JAMA, 299(11), 1277-1290. American Medical Association
JAMA-Journal of the American Medical Association, 299(11), 1277-1290. American Medical Association
van Meurs, J B J, Trikalinos, T A, Ralston, S H, Balcells, S, Brandi, M L, Brixen, K, Kiel, D P, Langdahl, B L, Lips, P, Ljunggren, O, Lorenc, R, Obermayer-Pietsch, B, Ohlsson, C, Pettersson, U, Reid, D M, Rousseau, F, Scollen, S, Van Hul, W, Agueda, L, Akesson, K, Benevolenskaya, L I, Ferrari, S L, Hallmans, G, Hofman, A, Husted, L B, Kruk, M, Kaptoge, S, Karasik, D, Karlsson, M K, Lorentzon, M, Masi, L, McGuigan, F E A, Mellström, D, Mosekilde, L, Nogues, X, Pols, H A P, Reeve, J, Renner, W, Rivadeneira, F, van Schoor, N M, Weber, K, Ioannidis, J P A, Uitterlinden, A G & GENOMOS Study 2008, ' Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. ', JAMA: The Journal of the American Medical Association, vol. 299, no. 11, pp. 1277-90 . https://doi.org/10.1001/jama.299.11.1277
Context Mutations in the low- density lipoprotein receptor - related protein 5 ( LRP5) gene cause rare syndromes characterized by altered bone mineral density ( BMD). More common LRP5 variants may affect osteoporosis risk in the general population.Ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2c6bf5d75a639e465acc4008c3198fd9
https://hdl.handle.net/1871.1/0a3fc45a-8caf-4e6f-aa58-86c3c68403cb
https://hdl.handle.net/1871.1/0a3fc45a-8caf-4e6f-aa58-86c3c68403cb
Autor:
Wiro J. Niessen, Aaron Isaacs, I. de Koning, Suzanne Schol-Gelok, M. A. Ikram, R. de Boer, J. C. van Swieten, Fan Liu, A. van der Lugt, C M van Duijn, Henri Vrooman, Meike W. Vernooij, Maaike Schuur, Monique M.B. Breteler, B.A. Oostra
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry, 82(1), 41-44. BMJ Publishing Group
Journal of Neurology Neurosurgery and Psychiatry, 82(1), 41-4. BMJ Publishing Group
Journal of Neurology Neurosurgery and Psychiatry, 82(1), 41-44. BMJ Publishing Group
Schuur, M, Van Swieten, J C, Schol-Gelok, S, Ikram, M A, Vernooij, M W, Liu, F, Isaacs, A, De Boer, R, De Koning, I, Niessen, W J, Vrooman, H, Oostra, B A, Van Der Lugt, A, Breteler, M M B & Van Duijn, C M 2011, ' Genetic risk factors for cerebral small-vessel disease in hypertensive patients from a genetically isolated population ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 82, no. 1, pp. 41-44 . https://doi.org/10.1136/jnnp.2009.176362
Journal of Neurology Neurosurgery and Psychiatry, 82(1), 41-4. BMJ Publishing Group
Journal of Neurology Neurosurgery and Psychiatry, 82(1), 41-44. BMJ Publishing Group
Schuur, M, Van Swieten, J C, Schol-Gelok, S, Ikram, M A, Vernooij, M W, Liu, F, Isaacs, A, De Boer, R, De Koning, I, Niessen, W J, Vrooman, H, Oostra, B A, Van Der Lugt, A, Breteler, M M B & Van Duijn, C M 2011, ' Genetic risk factors for cerebral small-vessel disease in hypertensive patients from a genetically isolated population ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 82, no. 1, pp. 41-44 . https://doi.org/10.1136/jnnp.2009.176362
BACKGROUND: Asymptomatic cerebral lesions on MRI such as white matter lesions (WML), lacunes and microbleeds are commonly seen in older people. We examined the role of a series of candidate genes involved in blood pressure regulation and amyloid meta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f6074846742ff623483be2f940522db
https://research.vumc.nl/en/publications/1d48e893-ee8b-4634-b1e4-d0b307e0ccf5
https://research.vumc.nl/en/publications/1d48e893-ee8b-4634-b1e4-d0b307e0ccf5
Autor:
Serge Ferrari, David Karasik
Publikováno v:
Annals of Human Genetics, Vol. 72, No Pt 5 (2008) pp. 696-714
Common diseases result from the complex relationship between genetic and environmental factors. The aim of this review is to provide perspective for a conceptual framework aimed at studying the interplay of gender-specific genetic and environmental f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbf39f11f368e8b77ac2f3ea5664f208
https://pubmed.ncbi.nlm.nih.gov/18485052
https://pubmed.ncbi.nlm.nih.gov/18485052
Autor:
Joyce B J, van Meurs, Thomas A, Trikalinos, Stuart H, Ralston, Susana, Balcells, Maria Luisa, Brandi, Kim, Brixen, Douglas P, Kiel, Bente L, Langdahl, Paul, Lips, Osten, Ljunggren, Roman, Lorenc, Barbara, Obermayer-Pietsch, Claes, Ohlsson, Ulrika, Pettersson, David M, Reid, Francois, Rousseau, Serena, Scollen, Wim, Van Hul, Lidia, Agueda, Kristina, Akesson, Lidia I, Benevolenskaya, Serge L, Ferrari, Göran, Hallmans, Albert, Hofman, Lise Bjerre, Husted, Marcin, Kruk, Stephen, Kaptoge, David, Karasik, Magnus K, Karlsson, Mattias, Lorentzon, Laura, Masi, Fiona E A, McGuigan, Dan, Mellström, Leif, Mosekilde, Xavier, Nogues, Huibert A P, Pols, Jonathan, Reeve, Wilfried, Renner, Fernando, Rivadeneira, Natasja M, van Schoor, Kurt, Weber, John P A, Ioannidis, André G, Uitterlinden, Ulrica, Bergström
Publikováno v:
JAMA (Journal of the American Medical Association), Vol. 299, No 11 (2008) pp. 1277-90
CONTEXT: Mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene cause rare syndromes characterized by altered bone mineral density (BMD). More common LRP5 variants may affect osteoporosis risk in the general population. OBJEC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3e582b68c30924a09a3087e72b53bd64
https://archive-ouverte.unige.ch/unige:2039
https://archive-ouverte.unige.ch/unige:2039
Autor:
Agnès Ostertag, Serge Ferrari, Stylianos E. Antonarakis, C. Baudoin, Samuel Deutsch, Martine Cohen-Solal, M.C. de Vernejoul, René Rizzoli
Publikováno v:
Bone, Vol. 37, No 6 (2005) pp. 770-775
Mutations in the low-density lipoprotein receptor-related protein 5 gene (LRP5) have demonstrated the role of LRP5 in bone mass acquisition. LRP5 variants were recently reported to contribute to the population-based variance in vertebral bone mass an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbed370bfa70968057836030ca32ba92
https://pubmed.ncbi.nlm.nih.gov/16168727
https://pubmed.ncbi.nlm.nih.gov/16168727
Autor:
Peter Paul De Deyn, Karolien Bettens, Nathalie Brouwers, Christine Van Broeckhoven, Kristel Sleegers, Sebastiaan Engelborghs
Publikováno v:
Human mutation
SORL1 has recently been identified as a major genetic contributor to increased risk for late-onset Alzheimer disease (AD). Here we aimed at replicating this finding in a large, well-characterized group of 550 Belgian late-onset AD patients and 637 he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::398ffa8a86522c0bb944565fd3efb62e
https://doi.org/10.1002/humu.20725
https://doi.org/10.1002/humu.20725
Publikováno v:
Scopus-Elsevier
Current Opinion in Lipidology, Vol. 16, No 2 (2005) pp. 207-214
Current Opinion in Lipidology, Vol. 16, No 2 (2005) pp. 207-214
PURPOSE OF REVIEW: This review summarizes recent findings concerning the genomic variations of the lipoprotein receptor-related protein 5 (LPR5) in relation to bone biology. RECENT FINDINGS: Mutations in the LRP5 gene causing high bone mass (HBM) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208b6fc8c2004539a60934da7cc4e454
http://www.scopus.com/inward/record.url?eid=2-s2.0-17144369164&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-17144369164&partnerID=MN8TOARS