Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Bassett JHD"'
Autor:
Loisay, L, Komla-Ebri, D, Morice, A, Heuzé, Y, Viaut, C, De La Seiglière, A, Kaci, N, Chan, D, Lamouroux, A, Baujat, G, Bassett, JHD, Williams, GR, Legeai-Mallet, L
Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast growth factor receptor 3 (FGFR3), with the majority of cases resulting from a heterozygous p.Asn540Lys gain-of-function mutation. Here, we report the generation and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::09566cdd5e0beefd99876a635980e47d
http://hdl.handle.net/10044/1/105148
http://hdl.handle.net/10044/1/105148
Autor:
Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg-Vaisman DR, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W, Mäkitie O
Publikováno v:
Frontiers in Endocrinology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Genetic disorders of the skeleton encompass a diverse group of bone diseases differing in clinical characteristics, severity, incidence and molecular etiology. Of particular interest are the monogenic rare bone mass disorders, with the underlying gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::3ec8a7b945ab28f6ebf0d0518c26190c
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20100
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20100
Autor:
Freudenthal, B, Shetty, S, Butterfield, NC, Logan, JG, Han, CR, Zhu, X-G, Astapova, I, Hollenberg, AN, Cheng, S-Y, Bassett, JHD, Williams, G
Background Thyroid hormones act in bone and cartilage via thyroid hormone receptor α (TRα). In the absence of T3, TRα interacts with co-repressors, including nuclear receptor co-repressor-1 (NCoR1), which recruit histone deacetylases (HDACs) and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::b6ee2132f144c62d9ec0fd742d62373a
http://hdl.handle.net/10044/1/67910
http://hdl.handle.net/10044/1/67910
Autor:
Morris, JA, Kemp, JP, Youlten, SE, Laurent, L, Logan, JG, Chai, RC, Vulpescu, NA, Forgetta, V, Kleinman, A, Mohanty, ST, Sergio, CM, Quinn, J, Nguyen-Yamamoto, L, Luco, A-L, Vijay, J, Simon, M-M, Pramatarova, A, Medina-Gomez, C, Trajanoska, K, Ghirardello, EJ, Butterfield, NC, Curry, KF, Leitch, VD, Sparkes, PC, Adoum, A-T, Mannan, NS, Komla-Ebri, DSK, Pollard, AS, Dewhurst, HF, Hassall, TAD, Beltejar, M-JG, Agee, M, Alipanahi, B, Auton, A, Bell, RK, Bryc, K, Elson, SL, Fontanillas, P, Furlotte, NA, McCreight, JC, Huber, KE, Litterman, NK, McIntyre, MH, Mountain, JL, Noblin, ES, Northover, CAM, Pitts, SJ, Sathirapongsasuti, JF, Sazonova, OV, Shelton, JF, Shringarpure, S, Tian, C, Tung, JY, Vacic, V, Wilson, CH, Adams, DJ, Vaillancourt, SM, Kaptoge, S, Baldock, P, Cooper, C, Reeve, J, Ntzani, EE, Evangelou, E, Ohlsson, C, Karasik, D, Rivadeneira, F, Kiel, DP, Tobias, JH, Gregson, CL, Harvey, NC, Grundberg, E, Goltzman, D, Lelliott, CJ, Hinds, DA, Ackert-Bicknell, CL, Hsu, Y-H, Maurano, MT, Croucher, PI, Williams, GR, Bassett, JHD, Evans, DM, Richards, JB
Publikováno v:
Nature Genetics, 51(2), 258-266. Nature Publishing Group
the 23 and Me Research Team, Morris, J A, Kemp, J P, Youlten, S E, Laurent, L, Logan, J G, Chai, R C, Vulpescu, N A, Forgetta, V, Kleinman, A, Mohanty, S T, Sergio, C M, Quinn, J, Nguyen-Yamamoto, L, Luco, A L, Vijay, J, Simon, M M, Pramatarova, A, Medina-Gomez, C, Trajanoska, K, Ghirardello, E J, Butterfield, N C, Curry, K F, Leitch, V D, Sparkes, P C, Adoum, A T, Mannan, N S, Komla-Ebri, D S K, Pollard, A S, Dewhurst, H F, Hassall, T A D, Beltejar, M J G, Agee, M, Alipanahi, B, Auton, A, Bell, R K, Bryc, K, Elson, S L, Fontanillas, P, Furlotte, N A, McCreight, J C, Huber, K E, Litterman, N K, McIntyre, M H, Mountain, J L, Wilson, C H, Cooper, C, Tobias, J H, Gregson, C L, Adams, D J & Evans, D M 2019, ' An atlas of genetic influences on osteoporosis in humans and mice ', Nature Genetics, vol. 51, pp. 258–266 . https://doi.org/10.1038/s41588-018-0302-x
Nature genetics
the 23 and Me Research Team, Morris, J A, Kemp, J P, Youlten, S E, Laurent, L, Logan, J G, Chai, R C, Vulpescu, N A, Forgetta, V, Kleinman, A, Mohanty, S T, Sergio, C M, Quinn, J, Nguyen-Yamamoto, L, Luco, A L, Vijay, J, Simon, M M, Pramatarova, A, Medina-Gomez, C, Trajanoska, K, Ghirardello, E J, Butterfield, N C, Curry, K F, Leitch, V D, Sparkes, P C, Adoum, A T, Mannan, N S, Komla-Ebri, D S K, Pollard, A S, Dewhurst, H F, Hassall, T A D, Beltejar, M J G, Agee, M, Alipanahi, B, Auton, A, Bell, R K, Bryc, K, Elson, S L, Fontanillas, P, Furlotte, N A, McCreight, J C, Huber, K E, Litterman, N K, McIntyre, M H, Mountain, J L, Wilson, C H, Cooper, C, Tobias, J H, Gregson, C L, Adams, D J & Evans, D M 2019, ' An atlas of genetic influences on osteoporosis in humans and mice ', Nature Genetics, vol. 51, pp. 258–266 . https://doi.org/10.1038/s41588-018-0302-x
Nature genetics
Osteoporosis is a common debilitating chronic disease diagnosed primarily using bone mineral density (BMD). We undertook a comprehensive assessment of human genetic determinants of bone density in 426,824 individuals, identifying a total of 518 genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::144c7600a65cf0f583134acbcbf5a1ba
http://hdl.handle.net/10044/1/66283
http://hdl.handle.net/10044/1/66283
Autor:
Kemp, JP, Morris, JA, Medina-Gomez, C, Forgetta, V, Warrington, NM, Youlten, SE, Zheng, J, Gregson, CL, Grundberg, E, Trajanoska, K, Logan, JC, Pollard, AS, Sparkes, PC, Ghirardello, EJ, Allen, R, Butterfield, NC, Komla-Ebri, D, Adoum, AT, Curry, KF, White, JK, Kussy, F, Greenlaw, KM, Xu, C, Harvey, NC, Cooper, C, Adams, DJ, Greenwood, CMT, Maurano, MT, Kaptoge, SK, Rivadeneira, F, Tobias, JH, Croucher, PI, Ackert-Bicknell, C, Bassett, JHD, Williams, GR, Richards, JB, Evans, DM
Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral density (BMD). We undertook a genome-wide association study in 142,487 individuals from the UK Biobank to identify loci associated with BMD estimated by quantitative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b00a021d00674188a5f523e4f28f8eb
https://www.repository.cam.ac.uk/handle/1810/267772
https://www.repository.cam.ac.uk/handle/1810/267772
Autor:
Freudenthal, B, Logan, J, Sanger Institute Mouse Pipelines2, Croucher, PI, Williams, GR, Bassett, JHD
Publikováno v:
R46
R31
R31
The genetic determinants of osteoporosis remain poorly understood, and there is a large unmet need for new treatments in our ageing society. Thus, new approaches for gene discovery in skeletal disease are required to complement the current genome-wid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::e46cbf5a38cc28d3c7ca208c21f5408e
http://hdl.handle.net/10044/1/39207
http://hdl.handle.net/10044/1/39207
Autor:
Forbes, SA, Pannett, AAJ, Bassett, JHD, Harding, B, Wooding, C, Thakker, RV, Butler, R, Ogilvie, D, Anand, R, Gaudray, P, Weber, G, Larsson, C, Zhang, CX, Calender, A, Höppener, JWM, Lips, CJM, Kas, K
The multiple endocrine neoplasia type 1 (MEN1) locus has been previously localised to 11q13 by combined tumour deletion mapping and recombination studies, and a 0.5-Mb region, flanked by PYGM and D11S449, has been defined. In the course of constructi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7c05fcbf1556da59b21ce3eb99cd482c
https://ora.ox.ac.uk/objects/uuid:b7796a96-dad2-40bd-88b3-27c923da6275
https://ora.ox.ac.uk/objects/uuid:b7796a96-dad2-40bd-88b3-27c923da6275
Publikováno v:
Annals of Clinical Biochemistry; May2018, Vol. 55 Issue 3, p308-327, 20p, 6 Diagrams, 3 Charts
Autor:
Lemmens, I, VandeVen, WJM, Kas, K, Zhang, CX, Giraud, S, Wautot, V, Buisson, N, DeWitte, K, Salandre, J, Lenoir, G, Pugeat, M, Calender, A, Parente, F, Quincey, D, Gaudray, P, DeWit, MJ, Lips, CJM, Hoppener, JWM, Khodaei, S, Grant, AL, Weber, G, Kytola, S, Teh, BT, Farnebo, F, Phelan, C, Hayward, N, Larsson, C, Pannett, AAJ, Forbes, SA, Bassett, JHD, Thakker, RV
Publikováno v:
HUMAN MOLECULAR GENETICS. 6(7)
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary that represents one of the familial cancer syndromes. The MEN1 locus has been previously locali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1064::ad58eb3787abf6d3ec573995860cff9d
http://ora.ox.ac.uk/objects/uuid:e87ca893-dab6-4315-9635-ec3abd395dca
http://ora.ox.ac.uk/objects/uuid:e87ca893-dab6-4315-9635-ec3abd395dca
Akademický článek
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