Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Mohsin Badat"'
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:
Mohsin Badat, Ayesha Ejaz, Peng Hua, Siobhan Rice, Weijiao Zhang, Lance D. Hentges, Christopher A. Fisher, Nicholas Denny, Ron Schwessinger, Nirmani Yasara, Noemi B. A. Roy, Fadi Issa, Andi Roy, Paul Telfer, Jim Hughes, Sachith Mettananda, Douglas R. Higgs, James O. J. Davies
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-7 (2023)
Abstract Haemoglobin E (HbE) β-thalassaemia causes approximately 50% of all severe thalassaemia worldwide; equating to around 30,000 births per year. HbE β-thalassaemia is due to a point mutation in codon 26 of the human HBB gene on one allele (GAG
Externí odkaz:
https://doaj.org/article/88dbd35ddfe1418a8b4cd19610b19c39
Autor:
Sachith Mettananda, Chris A. Fisher, Deborah Hay, Mohsin Badat, Lynn Quek, Kevin Clark, Philip Hublitz, Damien Downes, Jon Kerry, Matthew Gosden, Jelena Telenius, Jackie A. Sloane-Stanley, Paula Faustino, Andreia Coelho, Jessica Doondeea, Batchimeg Usukhbayar, Paul Sopp, Jacqueline A. Sharpe, Jim R. Hughes, Paresh Vyas, Richard J. Gibbons, Douglas R. Higgs
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
β-thalassemia is characterised by the presence of an excess of α-globin chains, which contribute to erythrocyte pathology. Here the authors use CRISP/Cas9 to reduce α-globin expression in hematopoietic precursors, and show effectiveness in xenogra
Externí odkaz:
https://doaj.org/article/0cd23b9b09ec4af18f7d483a67ceba18
Autor:
Douglas R. Higgs, Mohsin Badat
Publikováno v:
HemaSphere, Vol 2, Pp 24-26 (2018)
Externí odkaz:
https://doaj.org/article/6cee868e76a74801852e8486e455302b
Autor:
Anna M. Rose, Andreas Glenthøj, Chris Fisher, Cornelis L. Harteveld, Douglas R. Higgs, Damien J. Downes, Mohsin Badat, E.J. van Beers, James O.J. Davies
Publikováno v:
Badat, M, Davies, J O J, Fisher, C A, Downes, D J, Rose, A, Glenthøj, A B, van Beers, E J, Harteveld, C L & Higgs, D R 2021, ' A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression ', Blood, vol. 137, no. 4, pp. 572-575 . https://doi.org/10.1182/blood.2020006680
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f0511bcf631c1a7af5d53c682bd938
https://doi.org/10.1182/blood.2020006680
https://doi.org/10.1182/blood.2020006680
Autor:
Sean Platton, Linda Schönborn, Sarah Charrot, Mohsin Badat, Jesca Boot, Vickie McDonald, Suthesh Sivapalaratnam, Tadbir Bariana, Angela Theodoulou, Louise Bowles, Peter MacCallum
Publikováno v:
British journal of haematologyReferences. 197(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e46205ffdafc661fec6e7607b928d7ee
https://pubmed.ncbi.nlm.nih.gov/34970735
https://pubmed.ncbi.nlm.nih.gov/34970735
Autor:
Jim R. Hughes, Thomas A. Milne, Peng Hua, Doug Higgs, Lance Hentges, A. Marieke Oudelaar, James O.J. Davies, Nicholas T. Crump, Stephen Taylor, Mohsin Badat, Ron Schwessinger, Damien J. Downes, Lars L. P. Hanssen, Danuta M. Jeziorska
In higher eukaryotes, many genes are regulated by enhancers that are 104–106 base pairs (bp) away from the promoter. Enhancers contain transcription-factor-binding sites (which are typically around 7–22 bp), and physical contact between the promo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ab5bd6c8a32d66588d480180c494a7a
https://doi.org/10.1038/s41586-021-03639-4
https://doi.org/10.1038/s41586-021-03639-4
Autor:
Peng, Hua, Mohsin, Badat, Lars L P, Hanssen, Lance D, Hentges, Nicholas, Crump, Damien J, Downes, Danuta M, Jeziorska, A Marieke, Oudelaar, Ron, Schwessinger, Stephen, Taylor, Thomas A, Milne, Jim R, Hughes, Doug R, Higgs, James O J, Davies
Publikováno v:
Nature. 595(7865)
In higher eukaryotes, many genes are regulated by enhancers that are 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::843e91a98975cad05f1c7123d3480cfe
https://pubmed.ncbi.nlm.nih.gov/34183827
https://pubmed.ncbi.nlm.nih.gov/34183827
Autor:
Peng Hua, Anindita Roy, Chris Fisher, Jim Davies, Douglas R. Higgs, Mohsin Badat, Noémi B. A. Roy, Sachith Mettananda, Siobhan Rice
Publikováno v:
Blood. 138:2935-2935
HbE/β-thalassemia is the commonest form of severe β-thalassemia, and comprises approximately 50% of all cases worldwide. HbE/β-thalassemia is caused by the HbE codon 26 G>A mutation on one allele and any severe β 0-thalassemia mutation on the oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8920bfdce9d898ee1d8d7dd3f53f87c1
https://doi.org/10.1182/blood-2021-153283
https://doi.org/10.1182/blood-2021-153283