Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Jean Pierre, Bayley"'
Autor:
Jean-Pierre Bayley, Heggert G Rebel, Kimberly Scheurwater, Dominique Duesman, Juan Zhang, Francesca Schiavi, Esther Korpershoek, Jeroen C Jansen, Abbey Schepers, Peter Devilee
Publikováno v:
PLoS ONE, Vol 17, Iss 9, p e0274478 (2022)
The neuroendocrine tumours paraganglioma and pheochromocytoma (PPGLs) are commonly associated with succinate dehydrogenase (SDH) gene variants, but no human SDH-related PPGL-derived cell line has been developed to date. The aim of this study was to s
Externí odkaz:
https://doaj.org/article/77e6473da3044bd4aad2ade1aaa4bf3c
Autor:
Karin van der Tuin, Eleonora P M Corssmit, Birke Bausch, Erik F. Hensen, Jeroen C. Jansen, Hartmut P. H. Neumann, Peter Devilee, Jean-Pierre Bayley
Publikováno v:
Bayley, J P, Bausch, B, Jansen, J C, Hensen, E F, van der Tuin, K, Corssmit, E P, Devilee, P & Neumann, H P 2023, ' SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma ', Journal of Medical Genetics, vol. 60, no. 1, pp. 25-32 . https://doi.org/10.1136/jmedgenet-2020-107656
Journal of Medical Genetics, 60(1), 25-32. BMJ Publishing Group
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics, 60(1), 25-32. BMJ Publishing Group
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
BackgroundTraditional genotype-phenotype correlations for the succinate dehydrogenase-complex II (SDH) genes linkSDHBvariants to thoracic-abdominal pheochromocytoma-paraganglioma (PPGL) andSDHDvariants to head and neck paraganglioma (HNPGL). However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e13f562bc6729aeaed3f77a1fed026
http://www.scopus.com/inward/record.url?scp=85144637045&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85144637045&partnerID=8YFLogxK
Autor:
Judith Favier, Patricia L. M. Dahia, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Jean-Pierre Bayley, Amira Mohamed, Delphine Mirebeau-Prunier, Mercedes Robledo, Rodrigo A. Toledo, Nelly Burnichon, Anne Barlier, Francesca Schiavi, Roderick J. Clifton-Bligh, Alberto Cascón, Sophie Giraud, Laurene Ben Aim, Tonino Ercolino, Eamonn R. Maher
Publikováno v:
Scientia
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Funder: Cancer Research UK Cambridge Cancer Centre
Background: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of pat
Background: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bcc940176677a14752394cc9be5864
https://hdl.handle.net/11351/9696
https://hdl.handle.net/11351/9696
Autor:
Jean-Pierre Bayley, Peter Devilee
Publikováno v:
Genes, 13(6). MDPI
Despite two decades of paraganglioma-pheochromocytoma research, the fundamental question of how the different succinate dehydrogenase (SDH)-related tumor phenotypes are initiated has remained unanswered. Here, we discuss two possible scenarios by whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e421e9b5a6039d542fe46533d7aec16
http://hdl.handle.net/1887/3563884
http://hdl.handle.net/1887/3563884
Autor:
Birke Bausch, Hartmut P. H. Neumann, Frederik J. Hes, Eleonora P M Corssmit, Johannes A. Rijken, Jeroen C. Jansen, Leonie T. van Hulsteijn, David B. Ascher, Douglas E. V. Pires, Erik F. Hensen, Peter Devilee, Jean-Pierre Bayley
Publikováno v:
Bayley, J P, Bausch, B, Rijken, J A, Van Hulsteijn, L T, Jansen, J C, Ascher, D, Pires, D E V, Hes, F J, Hensen, E F, Corssmit, E P M, Devilee, P & Neumann, H P H 2020, ' Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma ', Journal of Medical Genetics, vol. 57, no. 2, pp. 96-103 . https://doi.org/10.1136/jmedgenet-2019-106214
Journal of Medical Genetics, 57(2), 96-103. BMJ Publishing Group
Journal of Medical Genetics, 57(2), 96-103. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 57(2), 96-103. BMJ Publishing Group
Journal of Medical Genetics, 57(2), 96-103. BMJ PUBLISHING GROUP
BackgroundPathogenic germline variants in subunits of succinate dehydrogenase (SDHB, SDHC and SDHD) are broadly associated with disease subtypes of phaeochromocytoma–paraganglioma (PPGL) syndrome. Our objective was to investigate the role of varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a817ac92ed8d0ec54ace03874bfb4da
https://doi.org/10.1136/jmedgenet-2019-106214
https://doi.org/10.1136/jmedgenet-2019-106214
Autor:
Judith Favier, Judith V.M.G. Bovée, Peter Devilee, Erik F. Hensen, Anne-Paule Gimenez-Roqueplo, Frederik J. Hes, Aurélien Morini, Heggert Rebel, Jean-Pierre Bayley, Juan Zhang, Alexandre Buffet, Eleonora P M Corssmit, Jeroen C. Jansen
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism
The Journal of Clinical Endocrinology & Metabolism, 2020, ⟨10.1210/clinem/dgaa819⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), 459-471. ENDOCRINE SOC
The Journal of Clinical Endocrinology & Metabolism, 2020, ⟨10.1210/clinem/dgaa819⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), 459-471. ENDOCRINE SOC
Context Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors in which altered central metabolism appears to be a major driver of tumorigenesis, and many PPGL genes encode proteins involved in the tricarboxylic acid (TCA) cycle. Obje
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd9442e7e4d9980ab71a5a04edf2d0e
https://hdl.handle.net/20.500.14017/3056fdf8-31c3-49e1-b6ce-60e59a956a64
https://hdl.handle.net/20.500.14017/3056fdf8-31c3-49e1-b6ce-60e59a956a64
Autor:
Laurene, Ben Aim, Eamonn R, Maher, Alberto, Cascon, Anne, Barlier, Sophie, Giraud, Tonino, Ercolino, Pascal, Pigny, Roderick J, Clifton-Bligh, Delphine, Mirebeau-Prunier, Amira, Mohamed, Judith, Favier, Anne-Paule, Gimenez-Roqueplo, Francesca, Schiavi, Rodrigo A, Toledo, Patricia L, Dahia, Mercedes, Robledo, Jean Pierre, Bayley, Nelly, Burnichon
Publikováno v:
Journal of medical genetics. 59(8)
A total of 223 distinctThis multistep process resulted in 23 benign/likely benign, 149 pathogenic/likely pathogenic variants and 51 variants of unknown significance (VUS). Expert curation reduced by half the number of variants initially classified as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6d919922d0db87f10b9c47ca9a99899b
https://pubmed.ncbi.nlm.nih.gov/34452955
https://pubmed.ncbi.nlm.nih.gov/34452955
Autor:
Jean-Pierre Bayley, Peter Devilee
Publikováno v:
Endocrine-Related Cancer, 27(12), R433-R450. BIOSCIENTIFICA LTD
This review describes human and rodent-derived cell lines and xenografts developed over the last five decades that are suitable or potentially suitable models for paraganglioma–pheochromocytoma research. We outline the strengths and weaknesses of v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f75c86fddad67064f5cdb24bcf562c79
https://hdl.handle.net/1887/3184432
https://hdl.handle.net/1887/3184432
Autor:
Jean-Pierre Bayley, Ivonne van Minderhout, Pancras C W Hogendoorn, Cees J Cornelisse, Annemieke van der Wal, Frans A Prins, Luc Teppema, Albert Dahan, Peter Devilee, Peter E M Taschner
Publikováno v:
PLoS ONE, Vol 4, Iss 11, p e7987 (2009)
BACKGROUND: Mitochondrial succinate dehydrogenase (SDH) is a component of both the tricarboxylic acid cycle and the electron transport chain. Mutations of SDHD, the first protein of intermediary metabolism shown to be involved in tumorigenesis, lead
Externí odkaz:
https://doaj.org/article/22328ca339cf48aba1cce2c41c0a7126
Autor:
Johannes A. Rijken, Henricus P. M. Kunst, C. René Leemans, Michiel N. Kerstens, Eleonora P M Corssmit, Alberto M. Pereira, Peter H. Bisschop, Anouk N A van der Horst-Schrivers, Erik F. Hensen, Marieke F. van Dooren, Henri J L M Timmers, Jeroen C. Jansen, Koen M.A. Dreijerink, Karin Eijkelenkamp, Carli M. J. Tops, Frederik J. Hes, Nicolasine D. Niemeijer, Jean-Pierre Bayley, Anouk van Berkel
Publikováno v:
European Journal of Endocrinology, 177(2), 115-125. Bioscientifica Ltd
European Journal of Endocrinology, 177, 115-125
European Journal of Endocrinology, 177(2), 115-125. BIOSCIENTIFICA LTD
European Journal of Endocrinology, 177(2), 115-125. BioScientifica Ltd.
European Journal of Endocrinology, 177(2), 115-125
European Journal of Endocrinology, 177, 2, pp. 115-125
Niemeijer, N D, Rijken, J A, Eijkelenkamp, K, Van Der Horst-Schrivers, A N A, Kerstens, M N, Tops, C M J, Van Berkel, A, Timmers, H J L M, Kunst, H P M, Leemans, C R, Bisschop, P H, Dreijerink, K M A, Van Dooren, M F, Bayley, J P, Pereira, A M, Jansen, J C, Hes, F J, Hensen, E F & Corssmit, E P M 2017, ' The phenotype of SDHB germline mutation carriers : A nationwide study ', European Journal of Endocrinology, vol. 177, no. 2, pp. 115-125 . https://doi.org/10.1530/EJE-17-0074
European journal of endocrinology / European Federation of Endocrine Societies, 177(2), 115-125. BioScientifica Ltd.
European Journal of Endocrinology, 177, 115-125
European Journal of Endocrinology, 177(2), 115-125. BIOSCIENTIFICA LTD
European Journal of Endocrinology, 177(2), 115-125. BioScientifica Ltd.
European Journal of Endocrinology, 177(2), 115-125
European Journal of Endocrinology, 177, 2, pp. 115-125
Niemeijer, N D, Rijken, J A, Eijkelenkamp, K, Van Der Horst-Schrivers, A N A, Kerstens, M N, Tops, C M J, Van Berkel, A, Timmers, H J L M, Kunst, H P M, Leemans, C R, Bisschop, P H, Dreijerink, K M A, Van Dooren, M F, Bayley, J P, Pereira, A M, Jansen, J C, Hes, F J, Hensen, E F & Corssmit, E P M 2017, ' The phenotype of SDHB germline mutation carriers : A nationwide study ', European Journal of Endocrinology, vol. 177, no. 2, pp. 115-125 . https://doi.org/10.1530/EJE-17-0074
European journal of endocrinology / European Federation of Endocrine Societies, 177(2), 115-125. BioScientifica Ltd.
Objective Succinate dehydrogenase B subunit (SDHB) gene germline mutations predispose to pheochromocytomas, sympathetic paragangliomas, head and neck paragangliomas and non-paraganglionic tumors (e.g. renal cell carcinoma, gastrointestinal stromal tu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c4950e19d5c9160824f74b98133b9a
https://doi.org/10.1530/EJE-17-0074
https://doi.org/10.1530/EJE-17-0074