Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Shipra Bhatia"'
Autor:
Shipra Bhatia, Dirk Jan Kleinjan, Kirsty Uttley, Anita Mann, Nefeli Dellepiane, Wendy A Bickmore
Publikováno v:
eLife, Vol 10 (2021)
Mutations or genetic variation in noncoding regions of the genome harbouring cis-regulatory elements (CREs), or enhancers, have been widely implicated in human disease and disease risk. However, our ability to assay the impact of these DNA sequence c
Externí odkaz:
https://doaj.org/article/cabea42dcfad455facb02d1a512d8384
Autor:
Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)
Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinical cohort that is plausibly enr
Externí odkaz:
https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db
Autor:
Madapura M Pradeepa, Fionnuala McKenna, Gillian C A Taylor, Hemant Bengani, Graeme R Grimes, Andrew J Wood, Shipra Bhatia, Wendy A Bickmore
Publikováno v:
PLoS Genetics, Vol 13, Iss 4, p e1006677 (2017)
Long noncoding RNAs (lncRNAs) have been implicated in various biological functions including the regulation of gene expression, however, the functionality of lncRNAs is not clearly understood and conflicting conclusions have often been reached when c
Externí odkaz:
https://doaj.org/article/5f753eeb62ae4ecdb1c08f534831cf21
Autor:
Anita Mann, Shipra Bhatia
Publikováno v:
Biomedicines, Vol 7, Iss 3, p 71 (2019)
Determining aetiology of genetic disorders caused by damaging mutations in protein-coding genes is well established. However, understanding how mutations in the vast stretches of the noncoding genome contribute to genetic abnormalities remains a huge
Externí odkaz:
https://doaj.org/article/caba8d04acab467487974e8d686249f0
Publikováno v:
PLoS ONE, Vol 11, Iss 7, p e0159370 (2016)
The presence of a highly conserved DNA binding domain in INO80 subfamily predicted that INO80 directly interacts with DNA and we demonstrated its DNA binding activity in vitro. Here we report the consensus motif recognized by the DBINO domain identif
Externí odkaz:
https://doaj.org/article/ac5e980346b4422fb9927bc1fba1c801
Autor:
Nezha S. Benabdallah, Philippe Gautier, Betul Hekimoglu-Balkan, Laura A. Lettice, Shipra Bhatia, Wendy A. Bickmore
Publikováno v:
Open Biology, Vol 6, Iss 11 (2016)
The expression of genes with key roles in development is under very tight spatial and temporal control, mediated by enhancers. A classic example of this is the sonic hedgehog gene (Shh), which plays a pivotal role in the proliferation, differentiatio
Externí odkaz:
https://doaj.org/article/09e76d696fca47c9aca625976b241929
Autor:
Shipra Bhatia, Christopher T Gordon, Robert G Foster, Lucie Melin, Véronique Abadie, Geneviève Baujat, Marie-Paule Vazquez, Jeanne Amiel, Stanislas Lyonnet, Veronica van Heyningen, Dirk A Kleinjan
Publikováno v:
PLoS Genetics, Vol 11, Iss 6, p e1005193 (2015)
Disruption of gene regulation by sequence variation in non-coding regions of the genome is now recognised as a significant cause of human disease and disease susceptibility. Sequence variants in cis-regulatory elements (CREs), the primary determinant
Externí odkaz:
https://doaj.org/article/b94573715850407892c5317180a53397
Autor:
Vydianathan Ravi, Shipra Bhatia, Philippe Gautier, Felix Loosli, Boon-Hui Tay, Alice Tay, Emma Murdoch, Pedro Coutinho, Veronica van Heyningen, Sydney Brenner, Byrappa Venkatesh, Dirk A Kleinjan
Publikováno v:
PLoS Genetics, Vol 9, Iss 1, p e1003177 (2013)
Pax6 is a developmental control gene essential for eye development throughout the animal kingdom. In addition, Pax6 plays key roles in other parts of the CNS, olfactory system, and pancreas. In mammals a single Pax6 gene encoding multiple isoforms de
Externí odkaz:
https://doaj.org/article/5272b128d2a942b890e7718ea098cda0
Autor:
Kirsty Uttley, Andrew S. Papanastasiou, Manuela Lahne, Jennifer M. Brisbane, Ryan B. MacDonald, Wendy A. Bickmore, Shipra Bhatia
Enhancers play a critical role in development by precisely modulating spatial, temporal, and cell type-specific gene expression. Sequence variants in enhancers have been implicated in disease, however establishing the functional consequences of these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8f23e9efb7ae6e8bf61bc6ba35d15f5
https://doi.org/10.1101/2022.11.25.517987
https://doi.org/10.1101/2022.11.25.517987
