The Experts below are selected from a list of 14712 Experts worldwide ranked by ideXlab platform
Aditi Shendre - One of the best experts on this subject based on the ideXlab platform.
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deep sequencing of ryr3 gene identifies rare and common variants associated with increased carotid intima media thickness cimt in hiv infected individuals
Journal of Human Genetics, 2015Co-Authors: Degui Zhi, Aditi Shendre, Marguerite R Irvin, Rebecca Scherzer, Rodney T Perry, Shawn Levy, Donna K Arnett, Carl Grunfeld, Sadeep ShresthaAbstract:Carotid intima-media thickness (cIMT) is a subclinical measure of atherosclerosis with mounting evidence that higher cIMT confers an increased risk of cardiovascular disease. The Ryanodine Receptor 3 gene (RYR3) has previously been linked to increased cIMT; however, the causal variants have not yet been localized. Therefore, we sequenced 339,480 bp encompassing 104 exons and 2 kb flanking region of the RYR3 gene in 96 HIV-positive white men from the extremes of the distribution of common cIMT from the Fat Redistribution and Metabolic Changes in HIV infection study (FRAM). We identified 2710 confirmed variants (2414 single-nucleotide polymorphisms (SNPs) and 296 insertion/deletions (indels)), with a mean count of 736 SNPs (ranging from 528 to 1032) and 170 indels (ranging from 128 to 214) distributed in each individual. There were 39 variants in the exons and 15 of these were non-synonymous, of which with only 4 were common variants and the remaining 11 were rare variants, one was a novel SNP. We confirmed that the common variant rs2229116 was significantly associated with cIMT in this design (P<7.9 × 10(-9)), and observed seven other significantly associated SNPs (P<10(-8)). These variants including the private non-synonymous SNPs need to be followed up in a larger sample size and also tested with clinical atherosclerotic outcomes.
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ryr3 gene variants in subclinical atherosclerosis among hiv infected women in the women s interagency hiv study wihs
Atherosclerosis, 2014Co-Authors: Aditi Shendre, Marguerite R Irvin, Bradley E Aouizerat, Howard W Wiener, Ana I Vazquez, Kathryn Anastos, Jason M Lazar, Chenglong Liu, Roksana Karim, Nita A LimdiAbstract:Background: Single nucleotide polymorphisms (SNPs) in the Ryanodine Receptor 3 (RYR3) gene are associated with common carotid intima media thickness (CCA cIMT) in HIV-infected men. We evaluated SNPs in the RYR3 gene among HIV-infected women participating in Women’s Interagency HIV Study (WIHS).
Marguerite R Irvin - One of the best experts on this subject based on the ideXlab platform.
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deep sequencing of ryr3 gene identifies rare and common variants associated with increased carotid intima media thickness cimt in hiv infected individuals
Journal of Human Genetics, 2015Co-Authors: Degui Zhi, Aditi Shendre, Marguerite R Irvin, Rebecca Scherzer, Rodney T Perry, Shawn Levy, Donna K Arnett, Carl Grunfeld, Sadeep ShresthaAbstract:Carotid intima-media thickness (cIMT) is a subclinical measure of atherosclerosis with mounting evidence that higher cIMT confers an increased risk of cardiovascular disease. The Ryanodine Receptor 3 gene (RYR3) has previously been linked to increased cIMT; however, the causal variants have not yet been localized. Therefore, we sequenced 339,480 bp encompassing 104 exons and 2 kb flanking region of the RYR3 gene in 96 HIV-positive white men from the extremes of the distribution of common cIMT from the Fat Redistribution and Metabolic Changes in HIV infection study (FRAM). We identified 2710 confirmed variants (2414 single-nucleotide polymorphisms (SNPs) and 296 insertion/deletions (indels)), with a mean count of 736 SNPs (ranging from 528 to 1032) and 170 indels (ranging from 128 to 214) distributed in each individual. There were 39 variants in the exons and 15 of these were non-synonymous, of which with only 4 were common variants and the remaining 11 were rare variants, one was a novel SNP. We confirmed that the common variant rs2229116 was significantly associated with cIMT in this design (P<7.9 × 10(-9)), and observed seven other significantly associated SNPs (P<10(-8)). These variants including the private non-synonymous SNPs need to be followed up in a larger sample size and also tested with clinical atherosclerotic outcomes.
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ryr3 gene variants in subclinical atherosclerosis among hiv infected women in the women s interagency hiv study wihs
Atherosclerosis, 2014Co-Authors: Aditi Shendre, Marguerite R Irvin, Bradley E Aouizerat, Howard W Wiener, Ana I Vazquez, Kathryn Anastos, Jason M Lazar, Chenglong Liu, Roksana Karim, Nita A LimdiAbstract:Background: Single nucleotide polymorphisms (SNPs) in the Ryanodine Receptor 3 (RYR3) gene are associated with common carotid intima media thickness (CCA cIMT) in HIV-infected men. We evaluated SNPs in the RYR3 gene among HIV-infected women participating in Women’s Interagency HIV Study (WIHS).
Nita A Limdi - One of the best experts on this subject based on the ideXlab platform.
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ryr3 gene variants in subclinical atherosclerosis among hiv infected women in the women s interagency hiv study wihs
Atherosclerosis, 2014Co-Authors: Aditi Shendre, Marguerite R Irvin, Bradley E Aouizerat, Howard W Wiener, Ana I Vazquez, Kathryn Anastos, Jason M Lazar, Chenglong Liu, Roksana Karim, Nita A LimdiAbstract:Background: Single nucleotide polymorphisms (SNPs) in the Ryanodine Receptor 3 (RYR3) gene are associated with common carotid intima media thickness (CCA cIMT) in HIV-infected men. We evaluated SNPs in the RYR3 gene among HIV-infected women participating in Women’s Interagency HIV Study (WIHS).
Sadeep Shrestha - One of the best experts on this subject based on the ideXlab platform.
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deep sequencing of ryr3 gene identifies rare and common variants associated with increased carotid intima media thickness cimt in hiv infected individuals
Journal of Human Genetics, 2015Co-Authors: Degui Zhi, Aditi Shendre, Marguerite R Irvin, Rebecca Scherzer, Rodney T Perry, Shawn Levy, Donna K Arnett, Carl Grunfeld, Sadeep ShresthaAbstract:Carotid intima-media thickness (cIMT) is a subclinical measure of atherosclerosis with mounting evidence that higher cIMT confers an increased risk of cardiovascular disease. The Ryanodine Receptor 3 gene (RYR3) has previously been linked to increased cIMT; however, the causal variants have not yet been localized. Therefore, we sequenced 339,480 bp encompassing 104 exons and 2 kb flanking region of the RYR3 gene in 96 HIV-positive white men from the extremes of the distribution of common cIMT from the Fat Redistribution and Metabolic Changes in HIV infection study (FRAM). We identified 2710 confirmed variants (2414 single-nucleotide polymorphisms (SNPs) and 296 insertion/deletions (indels)), with a mean count of 736 SNPs (ranging from 528 to 1032) and 170 indels (ranging from 128 to 214) distributed in each individual. There were 39 variants in the exons and 15 of these were non-synonymous, of which with only 4 were common variants and the remaining 11 were rare variants, one was a novel SNP. We confirmed that the common variant rs2229116 was significantly associated with cIMT in this design (P<7.9 × 10(-9)), and observed seven other significantly associated SNPs (P<10(-8)). These variants including the private non-synonymous SNPs need to be followed up in a larger sample size and also tested with clinical atherosclerotic outcomes.
Susan Treves - One of the best experts on this subject based on the ideXlab platform.
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extraocular muscle function is impaired in ryr3 mice
The Journal of General Physiology, 2019Co-Authors: Jan Eckhardt, Christoph Bachmann, Marijana Sekulicjablanovic, Volker Enzmann, Ki Ho Park, Hiroshi Takeshima, Francesco Zorzato, Susan TrevesAbstract:Calcium is an ubiquitous second messenger mediating numerous physiological processes, including muscle contraction and neuronal excitability. Ca2+ is stored in the ER/SR and is released into the cytoplasm via the opening of intracellular inositol trisphosphate Receptor and Ryanodine Receptor calcium channels. Whereas in skeletal muscle, isoform 1 of the RYR is the main channel mediating calcium release from the SR leading to muscle contraction, the function of ubiquitously expressed Ryanodine Receptor 3 (RYR3) is far from clear; it is not known whether RYR3 plays a role in excitation–contraction coupling. We recently reported that human extraocular muscles express high levels of RYR3, suggesting that such muscles may be useful to study the function of this isoform of the Ca2+ channel. In the present investigation, we characterize the visual function of ryr3−/− mice. We observe that ablation of RYR3 affects both mechanical properties and calcium homeostasis in extraocular muscles. These changes significantly impact vision. Our results reveal for the first time an important role for RYR3 in extraocular muscle function.