Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Annalisa Buniello"'
Autor:
Jacqueline A.L. MacArthur, Annalisa Buniello, Laura W. Harris, James Hayhurst, Aoife McMahon, Elliot Sollis, Maria Cerezo, Peggy Hall, Elizabeth Lewis, Patricia L. Whetzel, Orli G. Bahcall, Inês Barroso, Robert J. Carroll, Michael Inouye, Teri A. Manolio, Stephen S. Rich, Lucia A. Hindorff, Ken Wiley, Helen Parkinson
Publikováno v:
Cell Genomics, Vol 1, Iss 1, Pp 100004- (2021)
Summary: Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in resol
Externí odkaz:
https://doaj.org/article/0dd1d0e208564f39b6fce0f8680c71c1
Autor:
Aoife McMahon, Elizabeth Lewis, Annalisa Buniello, Maria Cerezo, Peggy Hall, Elliot Sollis, Helen Parkinson, Lucia A. Hindorff, Laura W. Harris, Jacqueline A.L. MacArthur
Publikováno v:
Cell Genomics, Vol 1, Iss 1, Pp 100005- (2021)
Summary: Genome sequencing has recently become a viable genotyping technology for use in genome-wide association studies (GWASs), offering the potential to analyze a broader range of genome-wide variation, including rare variants. To survey current s
Externí odkaz:
https://doaj.org/article/3adcd0fc3e984f08927291aab2224c55
Autor:
Rafael M. Kochaj, Elisa Martelletti, Neil J. Ingham, Annalisa Buniello, Bebiana C. Sousa, Michael J. O. Wakelam, Andrea F. Lopez-Clavijo, Karen P. Steel
Publikováno v:
Cells, Vol 11, Iss 20, p 3206 (2022)
Peroxisome biogenesis disorders (due to PEX gene mutations) are associated with symptoms that range in severity and can lead to early childhood death, but a common feature is hearing impairment. In this study, mice carrying Pex3 mutations were found
Externí odkaz:
https://doaj.org/article/0d73c06f900a4e4abd15f4704ece98dc
Autor:
Mohd Anisul, Jarrod Shilts, Jeremy Schwartzentruber, James Hayhurst, Annalisa Buniello, Elmutaz Shaikho Elhaj Mohammed, Jie Zheng, Michael Holmes, David Ochoa, Miguel Carmona, Joseph Maranville, Tom R Gaunt, Valur Emilsson, Vilmundur Gudnason, Ellen M McDonagh, Gavin J Wright, Maya Ghoussaini, Ian Dunham
Publikováno v:
eLife, Vol 10 (2021)
Background: The virus SARS-CoV-2 can exploit biological vulnerabilities (e.g. host proteins) in susceptible hosts that predispose to the development of severe COVID-19. Methods: To identify host proteins that may contribute to the risk of severe COVI
Externí odkaz:
https://doaj.org/article/683976ef43454b7b95974612097b3624
Autor:
Joannella Morales, Danielle Welter, Emily H. Bowler, Maria Cerezo, Laura W. Harris, Aoife C. McMahon, Peggy Hall, Heather A. Junkins, Annalisa Milano, Emma Hastings, Cinzia Malangone, Annalisa Buniello, Tony Burdett, Paul Flicek, Helen Parkinson, Fiona Cunningham, Lucia A. Hindorff, Jacqueline A. L. MacArthur
Publikováno v:
Genome Biology, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the repr
Externí odkaz:
https://doaj.org/article/b53a242795714ed48bb6d40e8fcf0f44
Autor:
Neil J Ingham, Selina A Pearson, Valerie E Vancollie, Victoria Rook, Morag A Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D Weiss, Zӧe Powis, Pim Suwannarat, Christopher J Lelliott, Sally J Dawson, Jacqueline K White, Karen P Steel
Publikováno v:
PLoS Biology, Vol 17, Iss 4, p e3000194 (2019)
Adult-onset hearing loss is very common, but we know little about the underlying molecular pathogenesis impeding the development of therapies. We took a genetic approach to identify new molecules involved in hearing loss by screening a large cohort o
Externí odkaz:
https://doaj.org/article/d4fe6f45bed545a7b63c0342d4aa004a
Autor:
Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum
Publikováno v:
PLoS Genetics, Vol 11, Iss 7, p e1005386 (2015)
Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more g
Externí odkaz:
https://doaj.org/article/c3cde509dda1488686ad20653467c3ea
Autor:
Giorgia Girotto, Dragana Vuckovic, Annalisa Buniello, Beatriz Lorente-Cánovas, Morag Lewis, Paolo Gasparini, Karen P Steel
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e85352 (2014)
Considerable progress has been made in identifying deafness genes, but still little is known about the genetic basis of normal variation in hearing function. We recently carried out a Genome Wide Association Study (GWAS) of quantitative hearing trait
Externí odkaz:
https://doaj.org/article/b7b877d8f59f463eb3a77d6d10a2dff6
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
Autor:
Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, Diego Vozzi, Danilo Licastro, Angela d'Eustacchio, Dragana Vuckovic, Moza Khalifa Alkowari, Karen P Steel, Ramin Badii, Paolo Gasparini
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e80323 (2013)
Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play a major role worldwide in causing deafness, but there is a hi
Externí odkaz:
https://doaj.org/article/6f98223b1aec499baed0ab3f0863ba01
Autor:
Annalisa Buniello, Rachel E Hardisty-Hughes, Johanna C Pass, Eva Bober, Richard J Smith, Karen P Steel
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e56274 (2013)
The recessive mouse mutant headbobber (hb) displays the characteristic behavioural traits associated with vestibular defects including headbobbing, circling and deafness. This mutation was caused by the insertion of a transgene into distal chromosome
Externí odkaz:
https://doaj.org/article/8c63d1aab8a343f39d05222242db5f9f