Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Hemant Bengani"'
Autor:
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0268149 (2022)
Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia and/or microphthalmia (wit
Externí odkaz:
https://doaj.org/article/9d06bad8b8e446029dee31c9786b024b
Autor:
Brianda A. Hernandez-Moran, Andrew S. Papanastasiou, David Parry, Alison Meynert, Philippe Gautier, Graeme Grimes, Ian R. Adams, Violeta Trejo-Reveles, Hemant Bengani, Margaret Keighren, Ian J. Jackson, David J. Adams, David R. FitzPatrick, Joe Rainger
Publikováno v:
Genes, Vol 13, Iss 10, p 1797 (2022)
Anophthalmia (missing eye) describes a failure of early embryonic ocular development. Mutations in a relatively small set of genes account for 75% of bilateral anophthalmia cases, yet 25% of families currently are left without a molecular diagnosis.
Externí odkaz:
https://doaj.org/article/24813787dfdf4334be55a7a9617139c1
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:
Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R Fitzpatrick, R Frank Kooy
Publikováno v:
PLoS Genetics, Vol 10, Iss 4, p e1004242 (2014)
Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID). Cytogenetic expression results from CGG tri-nucl
Externí odkaz:
https://doaj.org/article/d3dcf43d51eb47b5b7cbeb70d07b6dc0
Autor:
Hemant Bengani, Shweta Mendiratta, Jayant Maini, Dasari Vasanthi, Hina Sultana, Mohsen Ghasemi, Jasmine Ahluwalia, Sowmya Ramachandran, Rakesh K Mishra, Vani Brahmachari
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67217 (2013)
Epigenetic cellular memory mechanisms that involve polycomb and trithorax group of proteins are well conserved across metazoans. The cis-acting elements interacting with these proteins, however, are poorly understood in mammals. In a directed search
Externí odkaz:
https://doaj.org/article/2b0abeb79d68463991ae82376b8581e0
Autor:
Liusaidh J. Owen, Jacqueline Rainger, Hemant Bengani, Fiona Kilanowski, David R. FitzPatrick, Andrew S. Papanastasiou
Specification of the eye field (EF) within the neural plate marks the earliest detectable stage of eye development. Experimental evidence, primarily from non-mammalian model systems, indicates that the stable formation of this group of cells requires
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbf6c52d2fb92dc9583ab65e4f2496be
https://doi.org/10.1101/2022.08.16.504119
https://doi.org/10.1101/2022.08.16.504119
Autor:
Brianda Areli Hernandez-Moran, Andrew S Papanastasiou, Dave Parry, Alison Meynert, Phillipe Gautier, Graeme Grimes, Ian R Adams, Violeta Trejo-Reveles, Hemant Bengani, Margaret Keighren, Ian J Jackson, David J Adams, David R FitzPatrick, Joe Rainger
Anophthalmia (missing eye) describes a failure of early embryonic ocular development. Mutations in a relatively small set of genes account for 75% of bilateral anophthalmia cases, yet 25% of families currently are left without a molecular diagnosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eec85128c105efbfd42e7a59d1d344ee
https://doi.org/10.1101/2022.08.05.502661
https://doi.org/10.1101/2022.08.05.502661
Autor:
Catherine M. Abbott, Mihail Halachev, Detelina Grozeva, Hugues Roest Crollius, F. Lucy Raymond, James Prendergast, Peter C. Kind, Hemant Bengani, Jacqueline K. Rainger, Laura C. Murphy, Liusaidh J Owen, Veronica van Heyningen, Adam Jackson, Lambert Moyon, Graeme R. Grimes, Olivera Spasic-Boskovic, Magali Naville, Emily K. Osterweil, Jilly Hope, David R. FitzPatrick, Shipra Bhatia, Susana R. Louros
Publikováno v:
PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)
PLoS ONE
PLoS ONE, Public Library of Science, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩
Bengani, H, Grozeva, D, Moyon, L, Bhatia, S, Louros, S R, Hope, J, Jackson, A, Prendergast, J G, Owen, L J, Naville, M, Rainger, J, Grimes, G, Halachev, M, Murphy, L C, Spasic-Boskovic, O, van Heyningen, V, Kind, P, Abbott, C M, Osterweil, E, Raymond, F L, Roest Crollius, H & FitzPatrick, D R 2021, ' Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability ', PLoS ONE, vol. 16, no. 8, e0256181 . https://doi.org/10.1371/journal.pone.0256181
PLoS ONE
PLoS ONE, Public Library of Science, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩
Bengani, H, Grozeva, D, Moyon, L, Bhatia, S, Louros, S R, Hope, J, Jackson, A, Prendergast, J G, Owen, L J, Naville, M, Rainger, J, Grimes, G, Halachev, M, Murphy, L C, Spasic-Boskovic, O, van Heyningen, V, Kind, P, Abbott, C M, Osterweil, E, Raymond, F L, Roest Crollius, H & FitzPatrick, D R 2021, ' Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability ', PLoS ONE, vol. 16, no. 8, e0256181 . https://doi.org/10.1371/journal.pone.0256181
Funder: BBSRC studentship
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 clinic
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 clinic