Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Elizabeth E Blue"'
Autor:
Jocelyn N. Plowman, Evanjalina J. Matoy, Lavanya V. Uppala, Samantha B. Draves, Cynthia J. Watson, Bridget A. Sefranek, Mark L. Stacey, Samuel P. Anderson, Michael A. Belshan, Elizabeth E. Blue, Chad D. Huff, Yusi Fu, Holly A.F. Stessman
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100306- (2024)
Summary: Approximately 20% of breast cancer cases are attributed to increased family risk, yet variation in BRCA1/2 can only explain 20%–25% of cases. Historically, only single gene or single variant testing were common in at-risk family members, a
Externí odkaz:
https://doaj.org/article/c20ab52b19624c2ebea28cfd72751227
Autor:
Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 1046-1053 (2023)
Abstract SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L‐serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive m
Externí odkaz:
https://doaj.org/article/7c78457d1e624c4ca4136b621b913e02
Autor:
Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass
Publikováno v:
Rare, Vol 2, Iss , Pp 100040- (2024)
Biallelic pathogenic variants in UQCRFS1 underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here, we describe a partic
Externí odkaz:
https://doaj.org/article/93c294e07b004efca6d7414223356227
Publikováno v:
Alzheimer’s & Dementia: Translational Research & Clinical Interventions, Vol 10, Iss 1, Pp n/a-n/a (2024)
Abstract INTRODUCTION Alzheimer's disease (AD) is a complex disease influenced by genetics and environment. More than 75 susceptibility loci have been linked to late‐onset AD, but most of these loci were discovered in genome‐wide association stud
Externí odkaz:
https://doaj.org/article/4b2942bf7f1e43719f65296c87a7015d
Autor:
Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100232- (2023)
Summary: Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%–8% of a
Externí odkaz:
https://doaj.org/article/02c4caf366fb4060935dbf5c314b1e69
Autor:
Andrea R.V.R. Horimoto, Lisa A. Boyken, Elizabeth E. Blue, Kelsey E. Grinde, Rafael A. Nafikov, Harkirat K. Sohi, Alejandro Q. Nato, Jr., Joshua C. Bis, Luis I. Brusco, Laura Morelli, Alfredo Ramirez, Maria Carolina Dalmasso, Seth Temple, Claudia Satizabal, Sharon R. Browning, Sudha Seshadri, Ellen M. Wijsman, Timothy A. Thornton
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100207- (2023)
Summary: Alzheimer disease (AD) is the most common form of senile dementia, with high incidence late in life in many populations including Caribbean Hispanic (CH) populations. Such admixed populations, descended from more than one ancestral populatio
Externí odkaz:
https://doaj.org/article/bc1d19b1b9194d0ba327e4e0b482b7b4
Autor:
Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 4 (2023)
Externí odkaz:
https://doaj.org/article/c0a757e69bd44ff28873ec2e013dc8c8
Publikováno v:
Alzheimer’s Research & Therapy, Vol 13, Iss 1, Pp 1-14 (2021)
Abstract Background Genetic studies have primarily been conducted in European ancestry populations, identifying dozens of loci associated with late-onset Alzheimer’s disease (AD). However, much of AD’s heritability remains unexplained; as the pre
Externí odkaz:
https://doaj.org/article/cbe7fcfedbf44d14a1d6dcefbab7312e
Autor:
Hanley Kingston, Adrienne M. Stilp, William Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling, John Barnard, Shannon Dugan-Perez, Patrick T. Ellinor, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Namrata Gupta, Kenneth Rice, Albert V. Smith, Michael C. Zody, Scott M. Blackman, Garry Cutting, Michael R. Knowles, Yi-Hui Zhou, Margaret Rosenfeld, Ronald L. Gibson, Michael Bamshad, Alison Fohner, Elizabeth E. Blue
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100117- (2022)
Summary: CFTR F508del (c.1521_1523delCTT, p.Phe508delPhe) is the most common pathogenic allele underlying cystic fibrosis (CF), and its frequency varies in a geographic cline across Europe. We hypothesized that genetic variation associated with this
Externí odkaz:
https://doaj.org/article/904422004e45433aa8eb9faa3da1427a
Autor:
Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace, Hong Dang, Paul J. Gallins, Elizabeth E. Blue, Hua Ling, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Ronald L. Gibson, Elizabeth W. Pugh, Scott M. Blackman, Garry R. Cutting, Wanda K. O'Neal, Yi-Hui Zhou, Fred A. Wright, Michael R. Knowles, Jia Wen, Yun Li
Publikováno v:
HGG Advances, Vol 3, Iss 2, Pp 100090- (2022)
Cystic fibrosis (CF) is a severe genetic disorder that can cause multiple comorbidities affecting the lungs, the pancreas, the luminal digestive system and beyond. In our previous genome-wide association studies (GWAS), we genotyped approximately 8,0
Externí odkaz:
https://doaj.org/article/fe44bcc7f71a44b0aed41471c1966ed7