Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Beatriz Larraz Prieto"'
Autor:
Beatriz Larraz-Prieto, Javier Bonsón, Oude D. Zhu-Huang, Sachin Wani, Omar Albagha, Colin Farquharson, Stuart Ralston, Nerea Alonso
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100662- (2020)
Externí odkaz:
https://doaj.org/article/2916b8574c804c06982e1a3ea8cdb0b3
Autor:
Nerea Alonso, Omar M E Albagha, Asim Azfer, Beatriz Larraz-Prieto, Kathryn Berg, Philip L Riches, Barbara Ostanek, Tomaz Kocjan, Janja Marc, Bente L Langdahl, Stuart H Ralston
Publikováno v:
Alonso, N, Albagha, O M E, Azfer, A, Larraz-Prieto, B, Berg, K, Riches, P L, Ostanek, B, Kocjan, T, Marc, J, Langdahl, B L & Ralston, S H 2023, ' Genome-wide association study identifies genetic variants which predict the response of bone mineral density to teriparatide therapy ', Annals of the Rheumatic Diseases, vol. 82, no. 7, pp. 985-991 . https://doi.org/10.1136/ard-2022-223618
ObjectivesTeriparatide (TPTD) is an effective treatment for osteoporosis but the individual response to therapy is variable for reasons that are unclear. This study aimed to determine whether the response to TPTD might be influenced by genetic factor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df1049742e9ffdbf5491e6317da0fc9d
https://pure.au.dk/portal/da/publications/genomewide-association-study-identifies-genetic-variants-which-predict-the-response-of-bone-mineral-density-to-teriparatide-therapy(34e42bcd-5709-40ce-8190-7b1b6ac2ad79).html
https://pure.au.dk/portal/da/publications/genomewide-association-study-identifies-genetic-variants-which-predict-the-response-of-bone-mineral-density-to-teriparatide-therapy(34e42bcd-5709-40ce-8190-7b1b6ac2ad79).html
Autor:
Stuart H. Ralston, Rita Rásonyi, Nerea Alonso, Beatriz Larraz Prieto, Mahéva Vallet, Gyula Poór, Judit Donáth, Bernadett Balla, Gyula Vastag, Márton Pálinkás
Publikováno v:
Calcified Tissue International
Paget’s disease of bone (PDB) is characterized by focal or multifocal increase in bone turnover. One of the most well-established candidate genes for susceptibility to PDB is Sequestosome 1 (SQSTM1). Mutations in SQSTM1 have been documented among W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938c75236fae08b2edace7ab17ee9e40
https://doi.org/10.1007/s00223-020-00758-4
https://doi.org/10.1007/s00223-020-00758-4
Autor:
Nerea Alonso, Oude D. Zhu-Huang, Colin Farquharson, Stuart H. Ralston, Javier Bonsón, Omar M. E. Albagha, Beatriz Larraz-Prieto, Sachin Wani
Publikováno v:
Bone Reports, Vol 13, Iss, Pp 100662-(2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe9fc09dc34ef74ebf1614c42d3ce7e
http://www.sciencedirect.com/science/article/pii/S2352187220304228
http://www.sciencedirect.com/science/article/pii/S2352187220304228
Autor:
Stuart H. Ralston, Nerea Alonso, Ian J. Deary, Kathryn Berg, Beatriz Larraz-Prieto, James Prendergast, Sarah E. Harris, Zoe Lambert, Carys Pugh, Paul Redmond
Publikováno v:
Alonso, N, Larraz-Prieto, B, Berg, K, Lambert, Z, Redmond, P, Harris, S E, Deary, I J, Pugh, C, Prendergast, J & Ralston, S H 2020, ' Loss-of-function mutations in the ALPL gene presenting with adult onset osteoporosis and low serum concentrations of total alkaline phosphatase ', Journal of Bone and Mineral Research, vol. 35, no. 4, pp. 657-661 . https://doi.org/10.1002/jbmr.3928
Hypophosphatasia (HPP) is a rare inherited disorder characterized by rickets and low circulating concentrations of total alkaline phosphatase (ALP) caused by mutations in ALPL. Severe HPP presents in childhood but milder forms can present in adulthoo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77f9176b99c3c9e44513bc8a5a50d0a0
https://pubmed.ncbi.nlm.nih.gov/31793067
https://pubmed.ncbi.nlm.nih.gov/31793067