Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Angad S. Johar"'
Autor:
Zhou Zhou, Xia Tang, Wen Chen, Qianlong Chen, Bo Ye, Angad S. Johar, Iftikhar J. Kullo, Keyue Ding
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100258- (2024)
Summary: Ebstein’s anomaly, a rare congenital heart disease, is distinguished by the failure of embryological delamination of the tricuspid valve leaflets from the underlying primitive right ventricle myocardium. Gaining insight into the genetic ba
Externí odkaz:
https://doaj.org/article/f1cd320f51a440a9b19942ce3542d159
Publikováno v:
Journal of Lipid Research, Vol 64, Iss 12, Pp 100455- (2023)
The complex structure and function of low density lipoprotein receptor (LDLR) makes classification of protein-coding missense variants challenging. Deep generative models, including Evolutionary model of Variant Effect (EVE), Evolutionary Scale Model
Externí odkaz:
https://doaj.org/article/18809565e67d4db19a86416e9be59070
Autor:
Yassine Souilmi, Joshua M. Schmidt, Murray P. Cox, Angad S. Johar, João C. Teixeira, Adam Ben Rohrlach, Christian D. Huber, Alan Cooper, Shane T. Grey, Graham Gower, Matthew Williams, Chris S. M. Turney, Olivia L Johnson, Jonathan Tuke, Raymond Tobler
Publikováno v:
Nature Ecology & Evolution
The role of natural selection in shaping biological diversity is an area of intense interest in modern biology. To date, studies of positive selection have primarily relied on genomic datasets from contemporary populations, which are susceptible to c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26fef20af6203840c9272d518550a03
https://hdl.handle.net/21.11116/0000-000B-719A-821.11116/0000-000B-719C-6
https://hdl.handle.net/21.11116/0000-000B-719A-821.11116/0000-000B-719C-6
Autor:
Angad S. Johar, Yassine Souilmi, Christian D. Huber, M. Elise Lauterbur, David Enard, Raymond Tobler
SummaryThe current SARS-CoV-2 pandemic has emphasized the vulnerability of human populations to novel viral pressures, despite the vast array of epidemiological and biomedical tools now available. Notably, modern human genomes contain evolutionary in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fcd4fbee9a6a691ccdcb17de1058637a
https://doi.org/10.1101/2020.11.16.385401
https://doi.org/10.1101/2020.11.16.385401
Autor:
Yassine Souilmi, Angad S. Johar, Wayne A. Johnston, Nevan J. Krogan, M. Elise Lauterbur, Christian D. Huber, Kirill Alexandrov, David Enard, Shayli Varasteh Moradi, Raymond Tobler
Publikováno v:
Current Biology
The current severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has emphasized the vulnerability of human populations to novel viral pressures, despite the vast array of epidemiological and biomedical tools now available. Notably, m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::616f811b1f213c611cfba9dd7b5beeb9
http://europepmc.org/articles/PMC8381604
http://europepmc.org/articles/PMC8381604
Autor:
Ana Carolina Proença da Fonseca, Angad S. Johar, Mauricio Arcos-Burgos, Gilberto Paz-Filho, Claudio A. Mastronardi
Publikováno v:
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Background Childhood obesity is a serious public health problem associated with the development of several chronic diseases, such as type 2 diabetes mellitus, dyslipidemia, and hypertension. The elevated prevalence of obesity is mostly due to inadequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd6396ca20d2781c7ac6c399ff16200
https://pubmed.ncbi.nlm.nih.gov/28735903
https://pubmed.ncbi.nlm.nih.gov/28735903
Autor:
Hardip R. Patel, Gilberto Paz-Filho, Mauricio Arcos-Burgos, Margaret C. S. Boguszewski, Claudio A. Mastronardi, Gavin A. Huttley, Julio Licinio, Aaron Chuah, Cesar Luiz Boguszewski, Angad S. Johar, Ma-Li Wong
Publikováno v:
Genes
Genes; Volume 5; Issue 3; Pages: 709-725
Genes, Vol 5, Iss 3, Pp 709-725 (2014)
Genes; Volume 5; Issue 3; Pages: 709-725
Genes, Vol 5, Iss 3, Pp 709-725 (2014)
Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34274df7baf91b164a2958f7c726eebd
http://europepmc.org/articles/PMC4198926
http://europepmc.org/articles/PMC4198926
Autor:
Hardip R. Patel, Maria Fernanda Silva-Lara, Angad S. Johar, Juan-Manuel Anaya, Juan Camilo Sarmiento-Monroy, Klaus-Martin Schulte, Adriana Rojas-Villarraga, Claudio A. Mastronardi, Mauricio Arcos-Burgos, Rubén D. Mantilla, Jorge I. Vélez
Publikováno v:
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Objectives Familial autoimmunity and polyautoimmunity represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity. Whole exome sequencing (WES) and linkage analysis are well suited for this purpose due to it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8c2a4effc61e7018cf87e0e42799276
https://pubmed.ncbi.nlm.nih.gov/27209085
https://pubmed.ncbi.nlm.nih.gov/27209085
Autor:
Yeping Cai, Claudio A. Mastronardi, Andrés Villegas, Shaun G. Lehmann, Jorge I. Vélez, Hardip R. Patel, Diego Sepulveda-Falla, Francisco Lopera, Mauricio Arcos-Burgos, Dora Rivera, Simon Easteal, Angad S. Johar, Carlos Tobon
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 171(8)
The identification of mutations modifying the age of onset (AOO) in Alzheimer's disease (AD) is crucial for understanding the natural history of AD and, therefore, for early interventions. Patients with sporadic AD (sAD) from a genetic isolate in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8ed7511ba25f6c7cf5ff5606cae5428
https://pubmed.ncbi.nlm.nih.gov/27573710
https://pubmed.ncbi.nlm.nih.gov/27573710
Autor:
Juan-Manuel Anaya, Gavin A. Huttley, Jorge I. Vélez, Aaron Chuah, Claudio A. Mastronardi, Maria Fernanda Silva-Lara, Mauricio Arcos-Burgos, Stephanie Palmer, Dan Andrews, Kaiman Peng, Angela Higgins, Matthew A. Field, Angad S. Johar, Peter J. Milburn, Hardip R. Patel, Christopher C. Goodnow, Adriana Rojas-Villarraga
Publikováno v:
Journal of Translational Medicine
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Background Multiple autoimmune syndrome (MAS), an extreme phenotype of autoimmune disorders, is a very well suited trait to tackle genomic variants of these conditions. Whole exome sequencing (WES) is a widely used strategy for detection of protein c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417d2f771c6d7958f095c807820df016
https://doi.org/10.1186/s12967-015-0525-x
https://doi.org/10.1186/s12967-015-0525-x