Výsledky vyhledávání - "Aimee L. Fenwick"

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome

Autor: Eduardo Calpena, Andrew O.M. Wilkie, Yan Zhou, Sarah F. Smithson, Nils Koelling, Stephen R.F. Twigg, Steven A. Wall, Simon J. McGowan, Aimee L. Fenwick

Publikováno v: Zhou, Y, Koelling, N, Fenwick, A L, McGowan, S J, Calpena, E, Wall, S A, Smithson, S F, Wilkie, A O M & Twigg, S R F 2018, ' Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome ', Human Mutation, vol. 39, no. 10, pp. 1360-1365 . https://doi.org/10.1002/humu.23598
Human Mutation

Saethre-Chotzen syndrome (SCS), one of the most common forms of syndromic craniosynostosis (premature fusion of the cranial sutures), results from haploinsufficiency of TWIST1, caused by deletions of the entire gene or loss-of-function variants withi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::759a13ceaa3e162b2069467436629165
https://research-information.bris.ac.uk/en/publications/36285763-0bf5-40db-acd9-8b549fd9cc16

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TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

Autor: Alain Czorny, M. Valduga, Virginie Roze, Aimee L. Fenwick, Andrew O.M. Wilkie, Juliette Piard, Lionel Van Maldergem, Marion Lenoir

Publikováno v: American Journal of Medical Genetics. Part a

Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in TCF12 had significant developmental delay or learning disability. We report on the first ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82477dffff7c0b274e769b167ccdb328
https://doi.org/10.1002/ajmg.a.37083

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Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in C. elegans

Autor: Arwa Alsubait, Aditi Chandra, Andy Golden, Andrew O.M. Wilkie, Simon J. McGowan, Helen Lord, Tracy Lester, Aimee L. Fenwick, Tyler J. Hansen, Elizabeth Sweeney, Astrid Weber, Helen Cox, Sharon Kim, Victoria A. Scanlon, Stephen R.F. Twigg, Ann K. Corsi

Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific cra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::887667916114bbba0647c3e71dc3b99e
https://doi.org/10.1093/hmg/ddx107

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Publikováno v: Nature Genetics, 45(3), 304-307. Nature Publishing Group

Craniosynostosis, the premature fusion of the cranial sutures, is a heterogeneous disorder with a prevalence of ~1 in 2,200 (refs. 1,2). A specific genetic etiology can be identified in ~21% of cases3, including mutations of TWIST1, which encodes a c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4470ea788694f6ca548b16cbc2ba562d
https://doi.org/10.1038/ng.2531

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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Autor: Lynn Quek, Anne Goriely, Ondrej Cais, Christopher Yau, Lars Fugger, John Broxholme, Niko Popitsch, David Beeson, Zoya Kingsbury, M. Andrew Nesbit, David J. Nutt, Christopher Holmes, Andrew J. Rimmer, Fredrik Karpe, John Taylor, Andrea H. Németh, Veronica J. Buckle, Rodney D. Gilbert, Natasha Sahgal, Sian E. Piret, Alistair T. Pagnamenta, Elizabeth Sweeney, Stefano Lise, Sarah Lamble, Moustafa Attar, Christian Babbs, Mary Frances McMullin, Adrian V. S. Hill, Ingo H. Greger, Per Soelberg Sørensen, Michael P. Whyte, Paolo Piazza, Lorna Witty, Lorne Lonie, Emma E. Davenport, Peter J. Ratcliffe, Peter Humburg, Simon J. McGowan, Holger Cario, Chris Allan, Usha Kini, Malcolm F. Howard, Alexandra Russo, Simon Fiddy, Fiona Powrie, Pauline A. van Schouwenburg, Jude Craft, Andrew O.M. Wilkie, Aimee L. Fenwick, Jennifer Becq, Elizabeth Ormondroyd, Nayia Petousi, Richard R. Copley, Joshua Luck, David Buck, Hilary C. Martin, Katherine R. Bull, Holm H. Uhlig, Russell J. Grocock, Timothy J. Vyse, Smita Y. Patel, Gerton Lunter, Sean Humphray, Helen Chapel, Peter Donnelly, Karin Dahan, Calliope A. Dendrou, Edward Blair, Peter A. Robbins, Davis J. McCarthy, Kerry A. Miller, Rajesh V. Thakker, A. Radu Aricescu, Gilean McVean, Alison Simmons, Annette Bang Oturai, Julian C. Knight, David W. Johnson, Craig B. Langman, Earl D. Silverman, Anja V. Gruszczyk, Olivier Devuyst, Jean-Baptiste Cazier, Paresh Vyas, John I. Bell, Kathryn J. H. Robson, Ian Tomlinson, Jenny C. Taylor, Amy Trebes, Anna Schuh, Linda Hughes, Stephen R.F. Twigg, Hugh Watkins, Celeste Bento, Melanie J. Percy, Robert W. Hastings, Jonathan Flint, Richard J. Cornall, Edouard Hatton, Doug Higgs, P Bignell, Guadalupe Polanco-Echeverry, Angie Green, Jon P. Krohn, Ben Wright, David Bentley, Christopher W. Pugh, Steven A. Wall, Lisa Murray, Alexander Kanapin

Publikováno v: Nat Genet
Nature genetics
Taylor, J C, Martin, H C, Lise, S, Broxholme, J, Cazier, J-B, Rimmer, A, Kanapin, A, Lunter, G, Fiddy, S, Allan, C, Aricescu, A R, Attar, M, Babbs, C, Becq, J, Beeson, D, Bento, C, Bignell, P, Blair, E, Buckle, V J, Bull, K, Cais, O, Cario, H, Chapel, H, Copley, R R, Cornall, R, Craft, J, Dahan, K, Davenport, E E, Dendrou, C, Devuyst, O, Fenwick, A L, Flint, J, Fugger, L, Gilbert, R D, Goriely, A, Green, A, Greger, I H, Grocock, R, Gruszczyk, A V, Hastings, R, Hatton, E, Higgs, D, Hill, A, Holmes, C, Howard, M, Hughes, L, Humburg, P, Johnson, D, Karpe, F, Kingsbury, Z, Kini, U, Knight, J C, Krohn, J, Lamble, S, Langman, C, Lonie, L, Luck, J, McCarthy, D, McGowan, S J, McMullin, M F, Miller, K A, Murray, L, Németh, A H, Nesbit, M A, Nutt, D, Ormondroyd, E, Oturai, A B, Pagnamenta, A, Patel, S Y, Percy, M, Petousi, N, Piazza, P, Piret, S E, Polanco-Echeverry, G, Popitsch, N, Powrie, F, Pugh, C, Quek, L, Robbins, P A, Robson, K, Russo, A, Sahgal, N, van Schouwenburg, P A, Schuh, A, Silverman, E, Simmons, A, Sørensen, P S, Sweeney, E, Taylor, J, Thakker, R V, Tomlinson, I, Trebes, A, Twigg, S R F, Uhlig, H H, Vyas, P, Vyse, T, Wall, S A, Watkins, H, Whyte, M P, Witty, L, Wright, B, Yau, C, Buck, D, Humphray, S, Ratcliffe, P J, Bell, J I, Wilkie, A O M, Bentley, D, Donnelly, P & McVean, G 2015, ' Factors influencing success of clinical genome sequencing across a broad spectrum of disorders ', Nature Genetics, vol. 47, no. 7, pp. 717-26 . https://doi.org/10.1038/ng.3304

To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264c462e19ca02924993dc0e5f946c23
https://doi.org/10.1038/ng.3304

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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Publikováno v: Fenwick, A L, Kliszczak, M, Cooper, F, Murray, J, Sanchez-Pulido, L, Twigg, S R F, Goriely, A, McGowan, S J, Miller, K A, Taylor, I B, Logan, C, Bozdogan, S, Danda, S, Dixon, J, Elsayed, S M, Elsobky, E, Gardham, A, Hoffer, M J V, Koopmans, M, McDonald-McGinn, D M, Santen, G W E, Savarirayan, R, de Silva, D, Vanakker, O, Wall, S A, Wilson, L C, Yuregir, O O, Zackai, E H, Ponting, C P, Jackson, A P, Wilkie, A O M & Niedzwiedz, W & Bicknell, L S 2016, ' Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis ', American Journal of Human Genetics, vol. 99, no. 1, pp. 125-38 . https://doi.org/10.1016/j.ajhg.2016.05.019
American Journal of Human Genetics, 99(1), 125-138

DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder def

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5622fb24b6288cd366c414ea4a24361c
https://www.pure.ed.ac.uk/ws/files/27023217/Mutations_in_CDC45_Encoding_an_Essential_Component_of_the_Pre_Initiation_Complex_accepted_version.pdf

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