Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Sally Killick"'
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:
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
Autor:
Erica Bello, Jonathan Kerry, Shalini Singh, Bon Ham Yip, Rajko Kušec, Sally Killick, Sophie Raynaud, Jacqueline Boultwood, Andrea Pellagatti
Publikováno v:
Haematologica, Vol 103, Iss 11 (2018)
Externí odkaz:
https://doaj.org/article/8f0252643641445083e60129c8913004
Autor:
Marta Fernandez-Mercado, Adam Burns, Andrea Pellagatti, Aristoteles Giagounidis, Ulrich Germing, Xabier Agirre, Felipe Prosper, Carlo Aul, Sally Killick, James S. Wainscoat, Anna Schuh, Jacqueline Boultwood
Publikováno v:
Haematologica, Vol 98, Iss 12 (2013)
Interstitial deletion of chromosome 5q is the most common chromosomal abnormality in myelodysplastic syndromes. The catalogue of genes involved in the molecular pathogenesis of myelodysplastic syndromes is rapidly expanding and next-generation sequen
Externí odkaz:
https://doaj.org/article/030b29d304f54a98bd324671e54b0a26
Autor:
Marta Fernandez-Mercado, Bon Ham Yip, Andrea Pellagatti, Carwyn Davies, María José Larrayoz, Toshinori Kondo, Cristina Pérez, Sally Killick, Emma-Jane McDonald, María Dolores Odero, Xabier Agirre, Felipe Prósper, María José Calasanz, James S Wainscoat, Jacqueline Boultwood
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e42334 (2012)
Acute myeloid leukemia patients with normal cytogenetics (CN-AML) account for almost half of AML cases. We aimed to study the frequency and relationship of a wide range of genes previously reported as mutated in AML (ASXL1, NPM1, FLT3, TET2, IDH1/2,
Externí odkaz:
https://doaj.org/article/6cfaed15b9bf4c11b08ee7dfcacf1fde
Autor:
Li Wang, Carrie Fidler, Nandita Nadig, Aristoteles Giagounidis, Matteo G. Della Porta, Luca Malcovati, Sally Killick, Norbert Gattermann, Carlo Aul, Jacqueline Boultwood, James S. Wainscoat
Publikováno v:
Haematologica, Vol 93, Iss 7 (2008)
Background We undertook a genome wide single nucleotide polymorphism analysis of a spectrum of patients with myelodysplastic syndrome del(5q) in order to investigate whether additional genomic abnormalities occur. Single nucleotide polymorphism array
Externí odkaz:
https://doaj.org/article/07260042ef0242998c48c27475d46dfb
Autor:
Jacqueline Boultwood, Andrea Pellagatti, Maryam Nikpour, Beena Pushkaran, Carrie Fidler, Helen Cattan, Tim J Littlewood, Luca Malcovati, Matteo G Della Porta, Martin Jädersten, Sally Killick, Aristoteles Giagounidis, David Bowen, Eva Hellström-Lindberg, Mario Cazzola, James S Wainscoat
Publikováno v:
PLoS ONE, Vol 3, Iss 4, p e1970 (2008)
Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome (MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts. The pathogenesis of RARS and the cause of this unusual pattern of iron de
Externí odkaz:
https://doaj.org/article/581e1ece6d7149f982eab9948ed2d2a0
Autor:
Anna Marrone, Priya Sokhal, Amanda Walne, Richard Beswick, Michael Kirwan, Sally Killick, Mike Williams, Judith Marsh, Tom Vulliamy, Inderjeet Dokal
Publikováno v:
Haematologica, Vol 92, Iss 8 (2007)
Background and Objectives Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that te
Externí odkaz:
https://doaj.org/article/d3e5e18940114d99b61e1ebf24ac6cf1
Autor:
Ghulam J. Mufti, Catherine Cargo, Lynn Quek, Sally Killick, David T. Bowen, Manoj Raghavan, Wendy Ingram, Alex Sternberg, Simon J. Stanworth, Pramila Krishnamurthy, Gail Jones, Jonathan Kell, Elspeth Payne, Helen Enright, Austin G. Kulasekararaj, Daniel H. Wiseman, Dominic Culligan, Juliet Mills, Simone Green
Publikováno v:
British Journal of Haematology. 194:267-281
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ca016786e74837594adc66e8ddaf2b9
https://doi.org/10.1111/bjh.17612
https://doi.org/10.1111/bjh.17612
Autor:
Sally Killick, Gail Jones, Dominic Culligan, Helen Enright, Manoj Raghavan, Daniel H. Wiseman, Alex Sternberg, Catherine Cargo, David T. Bowen, Pramila Krishnamurthy, Elspeth Payne, Jonathan Kell, Wendy Ingram, Lynn Quek, Ghulam J. Mufti, Simone Green, Simon J. Stanworth, Juliet Mills, Austin G. Kulasekararaj
Publikováno v:
British Journal of Haematology. 194:282-293
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a54db6d9034b55d40f2c6e4cad352784
https://doi.org/10.1111/bjh.17621
https://doi.org/10.1111/bjh.17621