Zobrazeno 1 - 10
of 249
pro vyhledávání: '"Inderjeet, Dokal"'
Autor:
Hemanth Tummala, Amanda J Walne, Mohsin Badat, Manthan Patel, Abigail M Walne, Jenna Alnajar, Chi Ching Chow, Ibtehal Albursan, Jennifer M Frost, David Ballard, Sally Killick, Peter Szitányi, Anne M Kelly, Manoj Raghavan, Corrina Powell, Reinier Raymakers, Tony Todd, Elpis Mantadakis, Sophia Polychronopoulou, Nikolas Pontikos, Tianyi Liao, Pradeep Madapura, Upal Hossain, Tom Vulliamy, Inderjeet Dokal
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 10, Pp 2560-2582 (2024)
Abstract Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome, caused by genetic mutations that principally affect telomere biology. Approximately 35% of cases remain uncharacterised at the genetic level. To explore the geneti
Externí odkaz:
https://doaj.org/article/a5c1a71362e94f24b64c6893fb53d636
Autor:
Yufeng Li, Virág Sági-Kiss, Emma L.N. James, Inderjeet Dokal, Kenneth E. Parkinson, Jacob G. Bundy
Publikováno v:
Haematologica, Vol 999, Iss 1 (2024)
Not available.
Externí odkaz:
https://doaj.org/article/e0b017d31e664ea39d644a5d38942f62
Autor:
Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.
Externí odkaz:
https://doaj.org/article/a25bb12eaf454851a551304c03cbab09
The Oxford Handbook of Clinical Haematology continues to provide the essential knowledge needed in modern clinical practice for the diagnosis and management of patients with disorders of the blood. Major advances in the specialty, primarily within th
Autor:
Emma Naomi James, Virag Sagi-Kiss, Mark Bennett, Maria Elzbieta Mycielska, Lee Peng Karen-Ng, Terry Roberts, Sheila Matta, Inderjeet Dokal, Jacob Guy Bundy, Eric Kenneth Parkinson
Publikováno v:
The Journals of Gerontology: Series A. 78:780-789
The underlying mechanisms of plasma metabolite signatures of human aging and age-related diseases are not clear but telomere attrition and dysfunction are central to both. Dyskeratosis congenita (DC) is associated with mutations in the telomerase enz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e9a68704640708b745a8ae48ec92a73
https://doi.org/10.1093/gerona/glad018
https://doi.org/10.1093/gerona/glad018
Publikováno v:
Trends in Molecular Medicine. 28:882-891
Telomere biology disorders (TBDs) are a group of rare diseases caused by mutations that impair telomere maintenance. Mutations that cause reduced levels of TERC/hTR, the telomerase RNA component, are found in most TBD patients and include loss-of-fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52eba6d1a15b2bb2ba3998365aae78a7
https://doi.org/10.1016/j.molmed.2022.08.001
https://doi.org/10.1016/j.molmed.2022.08.001
Autor:
Hannah Armes, Findlay Bewicke‐Copley, Ana Rio‐Machin, Doriana Di Bella, Céline Philippe, Anna Wozniak, Hemanth Tummala, Jun Wang, Teresa Ezponda, Felipe Prosper, Inderjeet Dokal, Tom Vulliamy, Outi Kilpivaara, Ulla Wartiovaara‐Kautto, Jude Fitzgibbon, Kevin Rouault‐Pierre
Publikováno v:
British Journal of Haematology. 199:754-764
Despite the inclusion of inherited myeloid malignancies as a separate entity in the World Health Organization Classification, many established predisposing loci continue to lack functional characterization. While germline mutations in the DNA repair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b6bd468b25bf4765090e98dc92cb01
https://doi.org/10.1111/bjh.18466
https://doi.org/10.1111/bjh.18466
Publikováno v:
Expert Review of Hematology. 15:685-696
Dyskeratosis congenita (DC) is a multisystem syndrome characterized by mucocutaneous abnormalities, bone marrow failure, and predisposition to cancer. Studies over the last 25 years have led to the identification of 18 disease genes. These have a pri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::929860654b51f81f9728ec30cee140f3
https://doi.org/10.1080/17474086.2022.2108784
https://doi.org/10.1080/17474086.2022.2108784
Autor:
Hannah Armes, Ana Rio-Machin, Szilvia Krizsán, Csaba Bödör, Fadimana Kaya, Findlay Bewicke-Copley, Jenna Alnajar, Amanda Walne, Borbála Péterffy, Hemanth Tummala, Kevin Rouault-Pierre, Inderjeet Dokal, Tom Vulliamy, Jude Fitzgibbon
Publikováno v:
Leukemia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ea7b134d46f667c2a8ef90731c698c6
https://doi.org/10.1038/s41375-022-01515-2
https://doi.org/10.1038/s41375-022-01515-2
Autor:
Marja Hakkarainen, Ilse Kaaja, Suvi P. M. Douglas, Thomas J Vulliamy, Inderjeet Dokal, Jean Soulier, Lise Larcher, Régis Peffault de Latour, Thierry M Leblanc, Flore Sicre de Fontbrune, Timo Siitonen, Olli Lohi, Eva Hellström-Lindberg, Gisela Barbany, Bianca Tesi, Akiko Shimamura, Fabian Beier, Sharon Rosalie Jackson, Amir Kuperman, Tzipora C. Falik Zaccai, Hannah Tamary, Cristina Mecucci, Ilaria Capolsini, Kirsi Jahnukainen, Urpu Salmenniemi, Riitta Niinimäki, Teppo Varilo, Outi Kilpivaara, Ulla Wartiovaara-Kautto
Biallelic germline ERCC6L2 variants strongly predispose to bone marrow failure (BMF) and myeloid malignancies characterized by somatic TP53-mutated clones and erythroid predominance. We present a series of 52 subjects (35 families) with ERCC6L2 biall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485665100ff694d564033325497d926c
https://hdl.handle.net/11391/1548590
https://hdl.handle.net/11391/1548590