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Mapping the Hsp90 Genetic Network Reveals Ergosterol Biosynthesis and Phosphatidylinositol-4-Kinase Signaling as Core Circuitry Governing Cellular Stress
Teresa O'Meara, Amanda Veri, Elizabeth Polvi, Xinliu Li, Seyedeh Valaei, Stephanie Diezmann, Leah E. Cowen
Jun 30, 2016
Candida albicans is a leading human fungal pathogen that causes life-threatening systemic infections. A key regulator of C. albicans stress response, drug resistance, morphogenesis, and virulence is the molecular chaperone...
Mapping the Hsp90 Genetic Network Reveals Ergosterol Biosynthesis and Phosphatidylinositol-4-Kinase Signaling as Core Circuitry Governing Cellular Stress
Teresa O'Meara, Amanda Veri, Elizabeth Polvi, Xinliu Li, Seyedeh Valaei, Stephanie Diezmann, Leah E. Cowen
Jun 30, 2016
Candida albicans is a leading human fungal pathogen that causes life-threatening systemic infections. A key regulator of C. albicans stress response, drug resistance, morphogenesis, and virulence is the molecular chaperone...
Adaptive cortical parcellations for source reconstructed EEG/MEG connectomes.
There is growing interest in the rich temporal and spectral properties of the functional connectome of the brain that are provided by Electro- and Magnetoencephalography (EEG/MEG). However, the problem of leakage between brain...
Impaired Iron Homeostasis and Haematopoiesis Impacts Inflammation in the Ageing Process in Down Syndrome Dementia.
Ruma Raha-Chowdhury, Animesh Alexander Raha, James Henderson, Seyedeh Deniz Ghaffari, Monika Grigorova, Jessica Beresford-Webb, Kieren Allinson, Subhojit Chakraborty, Anthony Holland, Shahid H Zaman
Aug 02, 2021
Down syndrome (DS) subjects are more likely to develop the clinical features of Alzheimer's disease (AD) very early in the disease process due to the additional impact of neuroinflammation and because of activation of innate...
Iron ferritin Alzheimer’s disease Hepcidin iron homeostasis Choroid Plexus trisomy 21 Olig2 RUNX1 S100β accelerating ageing down syndrome dementia erythroid-megakaryocyte
Published by: Journal of clinical medicine
Impaired Iron Homeostasis and Haematopoiesis Impacts Inflammation in the Ageing Process in Down Syndrome Dementia.
Ruma Raha-Chowdhury, Animesh Alexander Raha, James Henderson, Seyedeh Deniz Ghaffari, Monika Grigorova, Jessica Beresford-Webb, Kieren Allinson, Subhojit Chakraborty, Anthony Holland, Shahid H Zaman
Sep 20, 2021
Down syndrome (DS) subjects are more likely to develop the clinical features of Alzheimer's disease (AD) very early in the disease process due to the additional impact of neuroinflammation and because of activation of innate...
Hepcidin Increases Cytokines in Alzheimer's Disease and Down's Syndrome Dementia
Animesh Alexander Raha, Seyedeh Deniz Ghaffari, James Henderson, Subhojit Chakraborty, Kieren Allinson, Robert P Friedland, Anthony Holland, Shahid H Zaman, Elizabeta B Mukaetova-Ladinska, Ruma Raha-Chowdhury
May 27, 2021
The liver-derived hormone hepcidin, a member of the defensin family of antimicrobial peptides, plays an important role in host defense and innate immunity due to its broad antibacterial and antiviral properties. Ferritin, an...
Impaired Iron Homeostasis and Haematopoiesis Impacts Inflammation in the Ageing Process in Down Syndrome Dementia
Ruma Raha-Chowdhury, Animesh Alexander Raha, James Henderson, Seyedeh Deniz Ghaffari, Monika Grigorova, Jessica Beresford-Webb, Kieren Allinson, Subhojit Chakraborty, Anthony Holland, Shahid H. Zaman
Jul 02, 2021
Down syndrome (DS) subjects are more likely to develop the clinical features of Alzheimer’s disease (AD) very early in the disease process due to the additional impact of neuroinflammation and because of activation of innate...
Hepcidin Increases Cytokines in Alzheimer’s Disease and Down’s Syndrome Dementia
Animesh Alexander Raha, Seyedeh Deniz Ghaffari, James Henderson, Subhojit Chakraborty, Kieren Allinson, Robert P. Friedland, Anthony Holland, Shahid H. Zaman, Elizabeta B. Mukaetova-Ladinska, Ruma Raha-Chowdhury
May 20, 2021
The liver-derived hormone hepcidin, a member of the defensin family of antimicrobial peptides, plays an important role in host defense and innate immunity due to its broad antibacterial and antiviral properties. Ferritin, an...
Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling.
Connor A Emdin, Amit V Khera, Derek Klarin, Pradeep Natarajan, Seyedeh M Zekavat, Akihiro Nomura, Mary Haas, Krishna Aragam, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Padhraig Gormley, Aarno Palotie, Nathan O Stitziel, Namrata Gupta, John Danesh, Danish Saleheen, Stacey Gabriel, Sekar Kathiresan
Jan 19, 2018
BACKGROUND: Nitric oxide signaling plays a key role in the regulation of vascular tone and platelet activation. Here, we seek to understand the impact of a genetic predisposition to enhanced nitric oxide signaling on risk for...
cardiovascular disease Genetics Nitric oxide nitric oxide synthase blood pressure Coronary Disease Genetic Association Studies Genetic Predisposition to Disease Humans Mutation Nitric oxide Nitric Oxide Synthase Type III Peripheral Arterial Disease Phenotype Polymorphism Single Nucleotide Protective factors Risk Factors Signal Transduction Soluble Guanylyl Cyclase stroke
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.
Connor A Emdin, Amit V Khera, Mark Chaffin, Derek Klarin, Pradeep Natarajan, Krishna Aragam, Mary Haas, Alexander Bick, Seyedeh M Zekavat, Akihiro Nomura, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Daniel Chasman, Paul Ridker, Joshua Denny, Lisa Bastarache, Judith H Lichtman, Gail D'Onofrio, Jennifer Mattera, John A Spertus, Wayne H-H Sheu, Kent D Taylor, Bruce M Psaty, Stephen S Rich, Wendy Post, Jerome I Rotter, Yii-Der Ida Chen, Harlan Krumholz, Danish Saleheen, Stacey Gabriel, Sekar Kathiresan
Jun 13, 2018
Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted...
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels
Connor A Emdin, Amit V Khera, Pradeep Natarajan, Derek Klarin, Hong-Hee Won, Gina M Peloso, Nathan O Stitziel, Akihiro Nomura, Seyedeh M Zekavat, Alexander G Bick, Namrata Gupta, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Cristen Willer, Gonçalo R Abecasis, Janine F Felix, Ramachandran S Vasan, Eric Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Danish Saleheen, Sekar Kathiresan, CHARGE–Heart Failure Consortium, CARDIOGRAM Exome Consortium
Nov 20, 2017
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.
Akihiro Nomura, Hong-Hee Won, Amit V Khera, Fumihiko Takeuchi, Kaoru Ito, Shane McCarthy, Connor A Emdin, Derek Klarin, Pradeep Natarajan, Seyedeh M Zekavat, Namrata Gupta, Gina M Peloso, Ingrid B Borecki, Tanya M Teslovich, Rosanna Asselta, Stefano Duga, Piera A Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, David J Carey, Michael F Murray, H Lester Kirchner, Joseph B Leader, Daniel R Lavage, J Neil Manus, Dustin N Hartze, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Jyh-Ming J Juang, Chao A Hsiung, Shih-Yi Lin, Jun-Sing Wang, Hayato Tada, Masa-Aki Kawashiri, Akihiro Inazu, Masakazu Yamagishi, Tomohiro Katsuya, Eitaro Nakashima, Masahiro Nakatochi, Ken Yamamoto, Mitsuhiro Yokota, Yukihide Momozawa, Jerome I Rotter, Eric S Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Cristen J Willer, Goncalo R Abecasis, Danish Saleheen, Michiaki Kubo, Norihiro Kato, Yii-Der Ida Chen, Frederick E Dewey, Sekar Kathiresan
Aug 02, 2021
RATIONALE: Therapies that inhibit CETP (cholesteryl ester transfer protein) have failed to demonstrate a reduction in risk for coronary heart disease (CHD). Human DNA sequence variants that truncate the CETP gene may provide...
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential.
Tetsushi Nakao, Alexander G Bick, Margaret A Taub, Seyedeh M Zekavat, Md M Uddin, Abhishek Niroula, Cara L Carty, John Lane, Michael C Honigberg, Joshua S Weinstock, Akhil Pampana, Christopher J Gibson, Gabriel K Griffin, Shoa L Clarke, Romit Bhattacharya, Themistocles L Assimes, Leslie S Emery, Adrienne M Stilp, Quenna Wong, Jai Broome, Cecelia A Laurie, Alyna T Khan, Albert V Smith, Thomas W Blackwell, Veryan Codd, Christopher P Nelson, Zachary T Yoneda, Juan M Peralta, Donald W Bowden, Marguerite R Irvin, Meher Boorgula, Wei Zhao, Lisa R Yanek, Kerri L Wiggins, James E Hixson, C Charles Gu, Gina M Peloso, Dan M Roden, Muagututi'a S Reupena, Chii-Min Hwu, Dawn L DeMeo, Kari E North, Shannon Kelly, Solomon K Musani, Joshua C Bis, Donald M Lloyd-Jones, Jill M Johnsen, Michael Preuss, Russell P Tracy, Patricia A Peyser, Dandi Qiao, Pinkal Desai, Joanne E Curran, Barry I Freedman, Hemant K Tiwari, Sameer Chavan, Jennifer A Smith, Nicholas L Smith, Tanika N Kelly, Bertha Hidalgo, L Adrienne Cupples, Daniel E Weeks, Nicola L Hawley, Ryan L Minster, Lifestyle and Genetic Adaptations Study (OLaGA) Group Samoan Obesity, Ranjan Deka, Take T Naseri, Lisa de Las Fuentes, Laura M Raffield, Alanna C Morrison, Paul S Vries, Christie M Ballantyne, Eimear E Kenny, Stephen S Rich, Eric A Whitsel, Michael H Cho, M Benjamin Shoemaker, Betty S Pace, John Blangero, Nicholette D Palmer, Braxton D Mitchell, Alan R Shuldiner, Kathleen C Barnes, Susan Redline, Sharon LR Kardia, Gonçalo R Abecasis, Lewis C Becker, Susan R Heckbert, Jiang He, Wendy Post, Donna K Arnett, Ramachandran S Vasan, Dawood Darbar, Scott T Weiss, Stephen T McGarvey, Mariza de Andrade, Yii-Der Ida Chen, Robert C Kaplan, Deborah A Meyers, Brian S Custer, Adolfo Correa, Bruce M Psaty, Myriam Fornage, JoAnn E Manson, Eric Boerwinkle, Barbara A Konkle, Ruth JF Loos, Jerome I Rotter, Edwin K Silverman, Charles Kooperberg, John Danesh, Nilesh J Samani, Siddhartha Jaiswal, Peter Libby, Patrick T Ellinor, Nathan Pankratz, Benjamin L Ebert, Alexander P Reiner, Rasika A Mathias, Ron Do, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Pradeep Natarajan
May 09, 2022
Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and diverse malignancies. Clonal hematopoiesis of...