Zobrazeno 1 - 10
of 601
pro vyhledávání: '"Alan R. Shuldiner"'
Autor:
Amber L. Beitelshees, Elizabeth A. Streeten, Zhinous Shahidzadeh Yazdi, Hilary B. Whitlatch, Braxton D. Mitchell, Alan R. Shuldiner, May E. Montasser, Simeon I. Taylor
Publikováno v:
Clinical and Translational Science, Vol 17, Iss 5, Pp n/a-n/a (2024)
Abstract DPP4 inhibitors are widely prescribed as treatments for type 2 diabetes. Because drug responses vary among individuals, we initiated investigations to identify genetic variants associated with the magnitude of drug responses. Sitagliptin (10
Externí odkaz:
https://doaj.org/article/b3cad01e7001482bb125303fa5d0bad4
Autor:
Kelly A. Mitok, Kathryn L. Schueler, Sarah M. King, Joseph Orr, Kathleen A. Ryan, Mark P. Keller, Ronald M. Krauss, Braxton D. Mitchell, Alan R. Shuldiner, Alan D. Attie
Publikováno v:
Journal of Lipid Research, Vol 64, Iss 12, Pp 100468- (2023)
Common noncoding variants at the human 1p13.3 locus associated with SORT1 expression are among those most strongly associated with low-density lipoprotein cholesterol (LDL-C) in human genome-wide association studies. However, validation studies in mi
Externí odkaz:
https://doaj.org/article/c1be21f245b04a43b1a714819dee4fd0
Autor:
Constantina Koutsofti, Marios Ioannides, Christiana Polydorou, Gregory Papagregoriou, Apostolos Malatras, George Michael, Irene Hadjiioannou, Stylianos Pieri, Eleni M. Loizidou, Christos Eftychiou, Elias Papasavvas, Theodoros Christophides, Anna Alkelai, Manav Kapoor, Alan R. Shuldiner, Panayiotis Avraamides, Constantinos Deltas
Publikováno v:
Genes, Vol 15, Iss 3, p 319 (2024)
Inherited cardiomyopathies represent a highly heterogeneous group of cardiac diseases. DNA variants in genes expressed in cardiomyocytes cause a diverse spectrum of cardiomyopathies, ultimately leading to heart failure, arrythmias, and sudden cardiac
Externí odkaz:
https://doaj.org/article/0d2687a043ed47ed93007c724ea8e7d1
Autor:
Megan T. Lynch, Kristin A. Maloney, Huichun Xu, James A. Perry, Regeneron Genetics Center, Alan R. Shuldiner, Braxton D. Mitchell
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-9 (2023)
Abstract Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of
Externí odkaz:
https://doaj.org/article/6bf9374a95e0483db170da89ad992e08
Autor:
Parsa Akbari, Olukayode A. Sosina, Jonas Bovijn, Karl Landheer, Jonas B. Nielsen, Minhee Kim, Senem Aykul, Tanima De, Mary E. Haas, George Hindy, Nan Lin, Ian R. Dinsmore, Jonathan Z. Luo, Stefanie Hectors, Benjamin Geraghty, Mary Germino, Lampros Panagis, Prodromos Parasoglou, Johnathon R. Walls, Gabor Halasz, Gurinder S. Atwal, Regeneron Genetics Center, DiscovEHR Collaboration, Marcus Jones, Michelle G. LeBlanc, Christopher D. Still, David J. Carey, Alice Giontella, Marju Orho-Melander, Jaime Berumen, Pablo Kuri-Morales, Jesus Alegre-Díaz, Jason M. Torres, Jonathan R. Emberson, Rory Collins, Daniel J. Rader, Brian Zambrowicz, Andrew J. Murphy, Suganthi Balasubramanian, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Michael Cantor, Goncalo R. Abecasis, Manuel A. R. Ferreira, Mark W. Sleeman, Viktoria Gusarova, Judith Altarejos, Charles Harris, Aris N. Economides, Vincent Idone, Katia Karalis, Giusy Della Gatta, Tooraj Mirshahi, George D. Yancopoulos, Olle Melander, Jonathan Marchini, Roberto Tapia-Conyer, Adam E. Locke, Aris Baras, Niek Verweij, Luca A. Lotta
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Fat distribution is associated with cardiometabolic disease, although it has been less well studied than overall obesity. In a multiancestry exome-sequencing study, the authors identified predicted loss-of-function mutations in INHBE associated with
Externí odkaz:
https://doaj.org/article/9f24eb7300be4033aaf87fbf13407526
Autor:
Daniel DiCorpo, Sheila M. Gaynor, Emily M. Russell, Kenneth E. Westerman, Laura M. Raffield, Timothy D. Majarian, Peitao Wu, Chloé Sarnowski, Heather M. Highland, Anne Jackson, Natalie R. Hasbani, Paul S. de Vries, Jennifer A. Brody, Bertha Hidalgo, Xiuqing Guo, James A. Perry, Jeffrey R. O’Connell, Samantha Lent, May E. Montasser, Brian E. Cade, Deepti Jain, Heming Wang, Ricardo D’Oliveira Albanus, Arushi Varshney, Lisa R. Yanek, Leslie Lange, Nicholette D. Palmer, Marcio Almeida, Juan M. Peralta, Stella Aslibekyan, Abigail S. Baldridge, Alain G. Bertoni, Lawrence F. Bielak, Chung-Shiuan Chen, Yii-Der Ida Chen, Won Jung Choi, Mark O. Goodarzi, James S. Floyd, Marguerite R. Irvin, Rita R. Kalyani, Tanika N. Kelly, Seonwook Lee, Ching-Ti Liu, Douglas Loesch, JoAnn E. Manson, Ryan L. Minster, Take Naseri, James S. Pankow, Laura J. Rasmussen-Torvik, Alexander P. Reiner, Muagututi’a Sefuiva Reupena, Elizabeth Selvin, Jennifer A. Smith, Daniel E. Weeks, Huichun Xu, Jie Yao, Wei Zhao, Stephen Parker, Alvaro Alonso, Donna K. Arnett, John Blangero, Eric Boerwinkle, Adolfo Correa, L. Adrienne Cupples, Joanne E. Curran, Ravindranath Duggirala, Jiang He, Susan R. Heckbert, Sharon L. R. Kardia, Ryan W. Kim, Charles Kooperberg, Simin Liu, Rasika A. Mathias, Stephen T. McGarvey, Braxton D. Mitchell, Alanna C. Morrison, Patricia A. Peyser, Bruce M. Psaty, Susan Redline, Alan R. Shuldiner, Kent D. Taylor, Ramachandran S. Vasan, Karine A. Viaud-Martinez, Jose C. Florez, James G. Wilson, Robert Sladek, Stephen S. Rich, Jerome I. Rotter, Xihong Lin, Josée Dupuis, James B. Meigs, Jennifer Wessel, Alisa K. Manning
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-12 (2022)
This study of 23,000 non-diabetic individuals highlights loci associated with fasting glucose and fasting insulin in diverse cohorts with whole genome sequence data.
Externí odkaz:
https://doaj.org/article/51bbec2d075c4bcf954b08126e8e0bab
Autor:
Kathleen Liedtke Kolb, Ana Luiza Sprotte Mira, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Carla Eduarda de Lima e Silva, Priscila Ianzen dos Santos, Valéria Bumiller-Bini Hoch, Luana Caroline Oliveira, Aline Borsato Hauser, Jennifer Elisabeth Hundt, Alan R. Shuldiner, Fabiana Leão Lopes, Teide-Jens Boysen, Andre Franke, Luis Felipe Ribeiro Pinto, Sheila Coelho Soares-Lima, Gabriela Canalli Kretzschmar, Angelica Beate Winter Boldt
Publikováno v:
Genes, Vol 14, Iss 9, p 1805 (2023)
The regulation of the hypothalamic-pituitary-adrenal (HPA) axis is associated with polymorphisms and the methylation degree of the glucocorticoid receptor gene (NR3C1) and is potentially involved in the development of metabolic syndrome (MetS). In or
Externí odkaz:
https://doaj.org/article/0d794d3907654b76ba7f833aa6692391
Autor:
May E. Montasser, Stella Aslibekyan, Vinodh Srinivasasainagendra, Hemant K. Tiwari, Amit Patki, Minoo Bagheri, Tobias Kind, Dinesh Kumar Barupal, Sili Fan, James Perry, Kathleen A. Ryan, Alan R. Shuldiner, Donna K. Arnett, Amber L. Beitelshees, Marguerite Ryan Irvin, Jeffrey R. O’Connell
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-13 (2022)
A GWAS of 355 lipid species in the Old Order Amish founder population reveals associations between Amish-enriched loci and several sphingolipids.
Externí odkaz:
https://doaj.org/article/a208336141d14390a621b63c420d9d23
Autor:
Katie B. Williams, Michael Horst, Millie Young, Christine Pascua, Erik G. Puffenberger, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Alan R. Shuldiner, Samuel Gidding, Kevin A. Strauss, Devyani Chowdhury
Publikováno v:
BMC Cardiovascular Disorders, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Background Familial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoBR3500Q) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoBR3500Q heterozygotes and homozygotes, we aimed to cha
Externí odkaz:
https://doaj.org/article/9c49f8e572984b1ebc9b773d2df4750c
Autor:
Bhim M. Adhikari, L. Elliot Hong, Zhiwei Zhao, Danny J.J. Wang, Paul M. Thompson, Neda Jahanshad, Alyssa H. Zhu, Stefan Holiga, Jessica A. Turner, Theo G.M. van Erp, Vince D. Calhoun, Kathryn S. Hatch, Heather Bruce, Stephanie M. Hare, Joshua Chiappelli, Eric L. Goldwaser, Mark D. Kvarta, Yizhou Ma, Xiaoming Du, Thomas E. Nichols, Alan R. Shuldiner, Braxton D. Mitchell, Juergen Dukart, Shuo Chen, Peter Kochunov
Publikováno v:
NeuroImage, Vol 262, Iss , Pp 119555- (2022)
Regional homogeneity (ReHo) is a measure of local functional brain connectivity that has been reported to be altered in a wide range of neuropsychiatric disorders. Computed from brain resting-state functional MRI time series, ReHo is also sensitive t
Externí odkaz:
https://doaj.org/article/9c9e989dc9704add82154764730818c5