Výsledky vyhledávání - "Alexander P Drew"

Akademický článek

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

Autor: Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Stephen W Reddel, Garth A Nicholson, Marina L Kennerson

Publikováno v: PLoS Genetics, Vol 12, Iss 7, p e1006177 (2016)

With the advent of whole exome sequencing, cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. In two large, distantly-related families that mapped to the Charcot-Marie-Tooth neuropathy CMTX3 locu

Externí odkaz: https://doaj.org/article/802b16d3182947d1825f4f2b2b24e1d9

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Akademický článek

Co-infection with SARS-CoV-2 Omicron and Delta variants revealed by genomic surveillance

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-7 (2022)

Here, using genomic approaches, Rockett et al. identify Omicron and Delta SARS-CoV-2 co-infections in two adults, highlighting the usefulness of genomic surveillance for the timely recognition of co-infections in situations when different variants of

Externí odkaz: https://doaj.org/article/38f87202ab14461b82215251ef687d21

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Akademický článek

Guiding the design of SARS-CoV-2 genomic surveillance by estimating the resolution of outbreak detection

Autor: Carl J. E. Suster, Alicia Arnott, Grace Blackwell, Mailie Gall, Jenny Draper, Elena Martinez, Alexander P. Drew, Rebecca J. Rockett, Sharon C.-A. Chen, Jen Kok, Dominic E. Dwyer, Vitali Sintchenko

Publikováno v: Frontiers in Public Health, Vol 10 (2022)

Genomic surveillance of SARS-CoV-2 has been essential to inform public health response to outbreaks. The high incidence of infection has resulted in a smaller proportion of cases undergoing whole genome sequencing due to finite resources. We present

Externí odkaz: https://doaj.org/article/d01f1ef409bf462c8dbaf704c2cd6af4

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Akademický článek

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation

Autor: Gonzalo Perez-Siles, Carolyn Ly, Adrienne Grant, Alexander P. Drew, Eppie M. Yiu, Monique M. Ryan, David T. Chuang, Shih-Chia Tso, Garth A. Nicholson, Marina L. Kennerson

Publikováno v: Neurobiology of Disease, Vol 94, Iss , Pp 237-244 (2016)

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. An X-linked form of CMT (CMTX6) is caused by a missense mutation (R158H) in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. PDK3 is one of 4 isoenzymes t

Externí odkaz: https://doaj.org/article/b46098c9fc4a4bae8101113cf887d568

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Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings

Autor: Alastair Corbett, Fangzhi Frank Jia, Garth A. Nicholson, Kishore R. Kumar, Alexander P. Drew

Publikováno v: Neuromuscular disorders : NMD. 31(11)

Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disease of the skeletal muscle with a characteristic pattern of weakness. Facioscapulohumeral muscular dystrophy type 2 (FSHD2) accounts for approximately 5% of all cases of FSHD and d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e698adb5e36b953213cbf47d3f0e0de
https://pubmed.ncbi.nlm.nih.gov/34711481

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Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Publikováno v: Movement Disorders
Movement Disorders, In press, ⟨10.1002/mds.28804⟩
Movement Disorders, Wiley, In press, ⟨10.1002/mds.28804⟩
Mov. Disord., DOI: 10.1002/mds.28804 (2021)

BACKGROUND Monogenic causes of isolated dystonia are heterogeneous. Assembling cohorts of affected individuals sufficiently large to establish new gene-disease relationships can be challenging. OBJECTIVE We sought to expand the catalogue of monogenic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8656fdccf99b551bfb684e673c1760a4
https://hal.sorbonne-universite.fr/hal-03371432/file/mds.28804.pdf

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The Lifeact-EGFP mouse is a translationally controlled fluorescent reporter of T cell activation

Autor: Christopher G. Proud, Maté Biro, Sarah K. Kummerfeld, Szun S. Tay, Jorge Luis Galeano Niño, Matt A Govendir, Alexander P. Drew, Daryan Kempe, Feyza Colakoglu, Jessica K Mazalo, Jacqueline Le Tearle, Jianling Xie

Publikováno v: Journal of cell science. 133(5)

It has become increasingly evident that T cell functions are subject to translational control in addition to transcriptional regulation. Here, by using live imaging of CD8+ T cells isolated from the Lifeact-EGFP mouse, we show that T cells exhibit a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5db3c7e1a399391668327cc6e4ddbad5
https://pubmed.ncbi.nlm.nih.gov/32041902

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