Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Hemanth Tummala"'
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:
Pui Pik Law, Liudmila A. Mikheeva, Francisco Rodriguez-Algarra, Fredrika Asenius, Maria Gregori, Robert A. E. Seaborne, Selin Yildizoglu, James R. C. Miller, Hemanth Tummala, Robin Mesnage, Michael N. Antoniou, Weilong Li, Qihua Tan, Sara L. Hillman, Vardhman K. Rakyan, David J. Williams, Michelle L. Holland
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract Body mass results from a complex interplay between genetics and environment. Previous studies of the genetic contribution to body mass have excluded repetitive regions due to the technical limitations of platforms used for population scale s
Externí odkaz:
https://doaj.org/article/80eab87c54514fd3a8296ed1fbbcc98c
Autor:
Sundarraj Jayakumar, Manthan Patel, Fanny Boulet, Hadicha Aziz, Greg N. Brooke, Hemanth Tummala, Madapura M. Pradeepa
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract R-loops that accumulate at transcription sites pose a persistent threat to genome integrity. PSIP1 is a chromatin protein associated with transcriptional elongation complex, possesses histone chaperone activity, and is implicated in recruiti
Externí odkaz:
https://doaj.org/article/99e9b6d78c454b4c84831308f316022a
Autor:
Sundarraj Jayakumar, Manthan Patel, Fanny Boulet, Hadicha Aziz, Greg N. Brooke, Hemanth Tummala, Madapura M. Pradeepa
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/05c0080a04554c67bd978f760c5ee5f7
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:
Saima Usman, Ahmad Jamal, Antesar Bushaala, Naushin H. Waseem, Hebah Al-Dehlawi, William Andrew Yeudall, Muy-Teck Teh, Hemanth Tummala, Ahmad Waseem
Publikováno v:
Cells, Vol 11, Iss 24, p 4035 (2022)
In advanced metastatic cancers with reduced patient survival and poor prognosis, expression of vimentin, a type III intermediate filament protein is frequently observed. Vimentin appears to suppress epithelial characteristics and augments cell migrat
Externí odkaz:
https://doaj.org/article/2258057453414297b2539952bf237be7
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
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
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
Autor:
Bernard Ma, Findlay Bewicke-Copley, Inderjeet Dokal, Tom Vulliamy, Maria G Bridger, Amanda J. Walne, Hemanth Tummala, Jun Wang, Jenna Alnajar
Publikováno v:
Blood Advances. 5:5360-5371
Gene expression profiling has long been used in understanding the contribution of genes and related pathways in disease pathogenesis and susceptibility. We have performed whole-blood transcriptomic profiling in a subset of patients with inherited bon