Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Shubham Khetan"'
Autor:
Shubham Khetan, Susan Kales, Romy Kursawe, Alexandria Jillette, Jacob C. Ulirsch, Steven K. Reilly, Duygu Ucar, Ryan Tewhey, Michael L. Stitzel
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Identifying causal variants at GWAS loci is important to understand disease mechanisms. Here the authors use massively parallel reporter assays to identify type 2 diabetes-associated variants that alter cis-regulatory activity, narrowing in on the ca
Externí odkaz:
https://doaj.org/article/7935194eff76489e8d239c6329e3802f
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 12, p e1009670 (2021)
Cis-Regulatory elements (cis-REs) include promoters, enhancers, and insulators that regulate gene expression programs via binding of transcription factors. ATAC-seq technology effectively identifies active cis-REs in a given cell type (including from
Externí odkaz:
https://doaj.org/article/9d4c8d611aa44ea69a0f4f01458295f1
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 12, p e1009670 (2021)
PLoS Computational Biology
PLoS Computational Biology
Cis-Regulatory elements (cis-REs) include promoters, enhancers, and insulators that regulate gene expression programs via binding of transcription factors. ATAC-seq technology effectively identifies active cis-REs in a given cell type (including from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76b0ef47e462febfff408a1025a8bb4
https://doaj.org/article/9d4c8d611aa44ea69a0f4f01458295f1
https://doaj.org/article/9d4c8d611aa44ea69a0f4f01458295f1
Autor:
Jacob C. Ulirsch, Duygu Ucar, Ryan Tewhey, Shubham Khetan, Romy Kursawe, Alexandria Jillette, Susan Kales, Michael L. Stitzel, Steven K. Reilly
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications
Nature Communications
Genome-wide association studies (GWAS) have linked single nucleotide polymorphisms (SNPs) at >250 loci in the human genome to type 2 diabetes (T2D) risk. For each locus, identifying the functional variant(s) among multiple SNPs in high linkage disequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e182b79ea7b75ffa8e28bc599af380c
https://doi.org/10.1038/s41467-021-25514-6
https://doi.org/10.1038/s41467-021-25514-6
Autor:
Alexandria Jillette, Steven K. Reilly, Duygu Ucar, Susan Kales, Shubham Khetan, Michael L. Stitzel, Ryan Tewhey, Romy Kursawe
A major goal in functional genomics and complex disease genetics is to identify functional cis-regulatory elements (CREs) and single nucleotide polymorphisms (SNPs) altering CRE activity in disease-relevant cell types and environmental conditions. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef1c1684f277aa9218afae8b4e79daff
https://doi.org/10.1101/2020.02.12.939348
https://doi.org/10.1101/2020.02.12.939348
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
Scientific Reports
Scientific Reports
Enhancers are cis-acting sequences that regulate transcription rates of their target genes in a cell-specific manner and harbor disease-associated sequence variants in cognate cell types. Many complex diseases are associated with enhancer malfunction
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8f1ee2580c7e0b858a8b6bd0d63325c
http://link.springer.com/article/10.1038/s41598-018-34420-9
http://link.springer.com/article/10.1038/s41598-018-34420-9
Autor:
Eladio J. Márquez, Shubham Khetan, Ahrim Youn, Michael L. Stitzel, Romy Kursawe, Nathan Lawlor, Alexandria Jillette, Duygu Ucar
Publikováno v:
Diabetes
Type 2 diabetes (T2D) is a complex disorder in which both genetic and environmental risk factors contribute to islet dysfunction and failure. Genome-wide association studies (GWAS) have linked single nucleotide polymorphisms (SNPs), most of which are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59b8b6ba4d80ad173bc5ea2db3c7fdf4
https://doi.org/10.2337/db18-0393
https://doi.org/10.2337/db18-0393
Autor:
Shubham Khetan, Asli Uyar, Ryan P. Welch, Markku Laakso, Anubhuti Mathur, Michael L. Stitzel, Brooke N. Wolford, Stephen C. J. Parker, Ricardo D’Oliveira Albanus, Jeroen R. Huyghe, Michael Boehnke, Duygu Ucar, Swarooparani Vadlamudi, Francis S. Collins, Romy Kursawe, Nathan Lawlor, Mohan Bolisetty, Karen L. Mohlke, Ina Kycia, Johanna Kuusisto, Christian Fuchsberger
Genome-wide association studies (GWASs) and functional genomics approaches implicate enhancer disruption in islet dysfunction and type 2 diabetes (T2D) risk. We applied genetic fine-mapping and functional (epi)genomic approaches to a T2D- and proinsu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bd14162875d885b311b9642833d8e14
https://europepmc.org/articles/PMC5985342/
https://europepmc.org/articles/PMC5985342/
Autor:
Shubham Khetan, Eladio J. Márquez, Nathan Lawlor, Ahrim Youn, Romy Kursawe, Duygu Ucar, Michael L. Stitzel
Genetic and environmental factors both contribute to islet dysfunction and failure, resulting in type 2 diabetes (T2D). The islet epigenome integrates these cues and can be remodeled by genetic and environmental variation. However, our knowledge of h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd29c3e2fb0fed896c3745865137049
https://doi.org/10.1101/192922
https://doi.org/10.1101/192922
Publikováno v:
Trends in genetics : TIG. 33(4)
Pancreatic islet dysfunction and beta cell failure are hallmarks of type 2 diabetes mellitus (T2DM) pathogenesis. In this review, we discuss how genome-wide association studies (GWASs) and recent developments in islet (epi)genome and transcriptome pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4216d53f04473f9f9a571dde26465230
https://pubmed.ncbi.nlm.nih.gov/28245910
https://pubmed.ncbi.nlm.nih.gov/28245910