Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Matthew N. Wakeling"'
Autor:
Indraneel Banerjee, Senthil Senniappan, Thomas W. Laver, Richard Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N. Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Pratik Shah, Zeynep Siklar, Charles F. Verge, Michael N. Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Publikováno v:
Wellcome Open Research, Vol 4 (2020)
Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome. A range of clinical features can result from these deletions with the most com
Externí odkaz:
https://doaj.org/article/d2f10b46905b437e918ce37dd11757b4
Autor:
Matthew N. Wakeling, Thomas W. Laver, Kevin Colclough, Andrew Parish, Sian Ellard, Emma L. Baple
Publikováno v:
Wellcome Open Research, Vol 4 (2020)
Multiple Nucleotide Variants (MNVs) are miscalled by the most widely utilised next generation sequencing analysis (NGS) pipelines, presenting the potential for missing diagnoses. These variants, which should be treated as a single insertion-deletion
Externí odkaz:
https://doaj.org/article/53f8647455ca4391b4205e24e2065cb6
Autor:
Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 3, Pp n/a-n/a (2023)
Abstract Dysfunction of the endoplasmic reticulum (ER) in insulin‐producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy‐onset diabetes mellitu
Externí odkaz:
https://doaj.org/article/39116a8baac7473c85e71501c8fe0c4e
Autor:
Reham, Khalaf-Nazzal, James, Fasham, Katherine A, Inskeep, Lauren E, Blizzard, Joseph S, Leslie, Matthew N, Wakeling, Nishanka, Ubeyratna, Tadahiro, Mitani, Jennifer L, Griffith, Wisam, Baker, Fida', Al-Hijawi, Karen C, Keough, Alper, Gezdirici, Loren, Pena, Christine G, Spaeth, Peter D, Turnpenny, Joseph R, Walsh, Randall, Ray, Amber, Neilson, Evguenia, Kouranova, Xiaoxia, Cui, David T, Curiel, Davut, Pehlivan, Zeynep Coban, Akdemir, Jennifer E, Posey, James R, Lupski, William B, Dobyns, Rolf W, Stottmann, Andrew H, Crosby, Emma L, Baple
Publikováno v:
The American Journal of Human Genetics. 109:2068-2079
Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family o
Autor:
Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Dysfunction of the endoplasmic reticulum (ER) in insulin‐producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy‐onset diabetes mellitus and sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d816924c4de0973bffb20d6391665e67
https://www.repository.cam.ac.uk/handle/1810/345813
https://www.repository.cam.ac.uk/handle/1810/345813
Autor:
Luke A. Perera, Andrew T. Hattersley, Heather P. Harding, Matthew N. Wakeling, Sarah E. Flanagan, Ibrahim Moshina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Dysfunction of the endoplasmic reticulum (ER) in insulin-producing beta cells results in cell loss and diabetes mellitus. Here we report on 5 individuals from three different consanguineous families with infancy-onset diabetes mellitus and severe neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d323b1146ff705ff6bcba8a4e3890d0a
https://doi.org/10.1101/2022.05.14.22275020
https://doi.org/10.1101/2022.05.14.22275020
Autor:
Kashyap A Patel, Michael N Weedon, Andrew T Hattersley, Sian Ellard, Caroline F Wright, Kevin Colclough, Olivia Knox, Matthew N Wakeling, Thomas W Laver
Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. Concern has been raised about whether variants in BLK (MODY11), KLF11 (MODY7) and PAX4 (MODY9) cause MODY.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60a4fe0f4560accbac16ecd2d70f1968
https://doi.org/10.2337/figshare.19099838.v1
https://doi.org/10.2337/figshare.19099838.v1
Autor:
Elisa De Franco, Matthew N. Wakeling, Russel D. Frew, James Russ‐Silsby, Catherine Peters, Stephen D. Marks, Andrew T. Hattersley, Sarah E. Flanagan
Publikováno v:
Clinical Genetics. 102:457-458
Autor:
Thomas W. Laver, Matthew N. Wakeling, Olivia Knox, Kevin Colclough, Caroline F. Wright, Sian Ellard, Andrew T. Hattersley, Michael N. Weedon, Kashyap A. Patel
Publikováno v:
Diabetes. 71(5)
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. Concern has been raised about whether variants in BLK (MODY11), KLF11 (MODY7), and PAX4 (MODY9) cause MODY
Autor:
Thomas W. Laver, Elisa De Franco, Matthew B. Johnson, Kashyap A. Patel, Sian Ellard, Michael N. Weedon, Sarah E. Flanagan, Matthew N. Wakeling
Publikováno v:
PLOS Computational Biology. 18:e1009940
Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNV