Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Claudia Gonzaga-Jauregui"'
Autor:
Robert S. Rosenson, Daniel Gaudet, Christie M. Ballantyne, Seth J. Baum, Jean Bergeron, Erin E. Kershaw, Patrick M. Moriarty, Paolo Rubba, David C. Whitcomb, Poulabi Banerjee, Andrew Gewitz, Claudia Gonzaga-Jauregui, Jennifer McGinniss, Manish P. Ponda, Robert Pordy, Jian Zhao, Daniel J. Rader
Publikováno v:
Nature Medicine. 29:729-737
Severe hypertriglyceridemia (sHTG) is an established risk factor for acute pancreatitis. Current therapeutic approaches for sHTG are often insufficient to reduce triglycerides and prevent acute pancreatitis. This phase 2 trial (NCT03452228) evaluated
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. 22
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 characterize
Autor:
David J. Carey, Cristen J. Willer, Anthony Marcketta, Claudia Schurmann, Leland Barnard, John Penn, Suganthi Balasubramanian, Daren Liu, Joseph B. Leader, Gonçalo R. Abecasis, Marcus B. Jones, John C. Whittaker, Ashutosh K. Pandey, Ida Surakka, David H. Ledbetter, Evan Maxwell, John D. Overton, Andrew Blumenfeld, Michael N. Cantor, Robert A. Scott, Wendy K. Chung, Alexander H. Li, Alexander Lopez, Joshua D. Backman, Matthew R. Nelson, Jeffrey Staples, Giovanni Coppola, Jonathan Marchini, Xiaodong Bai, Kavita Praveen, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Aris N. Economides, Shareef Khalid, William J Salerno, Bin Ye, Cristopher V. Van Hout, Kristian Hveem, Jeffrey G. Reid, Colm O'Dushlaine, Joshua D. Hoffman, Laura M. Yerges-Armstrong, Nilanjana Banerjee, Sean O'Keeffe, Ioanna Tachmazidou, Lon R. Cardon, Alicia Hawes, Aris Baras, Ashish Yadav, George D. Yancopoulos, Lukas Habegger
Publikováno v:
Nature
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. Here we describe the release of exome-sequence data for the first 49,960 study
Autor:
Jennifer A. Lee, Carlos Ferreira, Kym M. Boycott, Lina Basel-Salmon, Yue Si, Richard E. Person, Michael J. Lyons, Melissa T. Carter, Dmitriy Niyazov, Claudia Gonzaga-Jauregui, Renee Bend, Erin Torti, Lior Cohen, Samantha K Rojas, Ingrid M. Wentzensen, Mohamad A. Mikati
Publikováno v:
European Journal of Human Genetics
PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA splicing. Until recently, no defined human phenotype had been associated with alterations in
Autor:
Orly Eshach Adiv, Liza Konnikova, Sarah Wall, Scott B. Snapper, Adi Mory, Dror S. Shouval, Ron Shaoul, Alina Kurolap, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Hagit Baris Feldman, Vanessa Mitsialis, Tamar Paperna, M. Steinberg, John D. Overton, Lael Werner, Moran Nunberg, Yaniv Zohar
Publikováno v:
Journal of Clinical Immunology. 39:430-439
This study aimed to characterize the clinical phenotype, genetic basis, and consequent immunological phenotype of a boy with severe infantile-onset colitis and eosinophilic gastrointestinal disease, and no evidence of recurrent or severe infections.
Autor:
Alina Kurolap, Hagit Baris Feldman, John D. Overton, Ann Saada, Adi Mory, Tova Hershkovitz, Tamar Paperna, Sarah Wolf, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Hanna Mandel
Publikováno v:
Journal of Human Genetics. 64:589-595
Translation of mitochondrial-specific DNA is required for proper mitochondrial function and energy production. For this purpose, an elaborate network of dedicated molecular machinery including initiation, elongation and termination factors exists. We
Autor:
Donna M. Muzny, Richard A. Gibbs, Bo Yuan, James R. Lupski, Jacqueline T. Hecht, Candace Gamble, Samantha Penney, Claudia Gonzaga-Jauregui, Shalini N. Jhangiani
Publikováno v:
European Journal of Human Genetics. 23:342-346
Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. The applicatio