Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Elizabeth, Chao"'
Autor:
Tuya Pal, Erin Mundt, Marcy E. Richardson, Elizabeth Chao, Tina Pesaran, Thomas P. Slavin, Fergus J. Couch, Alvaro N. A. Monteiro
Publikováno v:
npj Precision Oncology, Vol 8, Iss 1, Pp 1-9 (2024)
Abstract Prior studies have suggested the existence of reduced penetrance pathogenic variants (RPPVs) in BRCA1 and BRCA2 (BRCA) which pose challenges for patient counseling and care. Here, we sought to establish RPPVs as a new category of variants. C
Externí odkaz:
https://doaj.org/article/96e995e3f2de44aea2cb93b12232b567
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101184- (2024)
Externí odkaz:
https://doaj.org/article/fbb8bf698f6844b5b0997ef370c0b20b
Autor:
Edwin S. Iversen, Gary Lipton, Steven N. Hart, Kun Y. Lee, Chunling Hu, Eric C. Polley, Tina Pesaran, Amal Yussuf, Holly LaDuca, Elizabeth Chao, Rachid Karam, David E. Goldgar, Fergus J. Couch, Alvaro N. A. Monteiro
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-8 (2022)
Abstract Loss-of-function variants in the BRCA1 and BRCA2 susceptibility genes predispose carriers to breast and/or ovarian cancer. The use of germline testing panels containing these genes has grown dramatically, but the interpretation of the result
Externí odkaz:
https://doaj.org/article/a9b402e69faa4cd5a657f04f06fd7feb
Autor:
Leslie E. Oldfield, Jessica Grzybowski, Sylvie Grenier, Elizabeth Chao, Gregory S. Downs, Kirsten M. Farncombe, Tracy L. Stockley, Ozgur Mete, Raymond H. Kim
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-5 (2022)
Abstract Von Hippel-Lindau disease (VHL) is an autosomal dominant, inherited syndrome with variants in the VHL gene causing predisposition to multi-organ benign and malignant neoplasms. A germline VHL variant is identified in 95–100% of individuals
Externí odkaz:
https://doaj.org/article/cdf9e2fa2df24b4ab8df4e80fa08a011
Autor:
Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan M. Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C. Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam
Publikováno v:
npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patient
Externí odkaz:
https://doaj.org/article/50f2e0c212b24359a87e5f0fd59980ac
Autor:
Sang Jun Lee, Madhupriya Mahankali, Abdallah Bitar, Huafei Zou, Elizabeth Chao, Hung Nguyen, Jose Gonzalez, Dawna Caballero, Mitch Hull, Danling Wang, Peter G. Schultz, Weijun Shen
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Elevated triglyceride (TG) levels are well-correlated with the risk for cardiovascular disease (CVD). Apolipoprotein CIII (ApoC-III) is a key regulator of plasma TG levels through regulation of lipolysis and lipid synthesis. To identify nove
Externí odkaz:
https://doaj.org/article/3ea9011fb70b4cf78139664545c9293e
Autor:
Snezana Milutinovic, Susanne Heynen-Genel, Elizabeth Chao, Antimone Dewing, Ricardo Solano, Loribelle Milan, Nikki Barron, Min He, Paul W Diaz, Shu-ichi Matsuzawa, John C Reed, Christian A Hassig
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0152692 (2016)
Cardiac glycosides (CGs), inhibitors of Na+/K+-ATPase (NKA), used clinically to treat heart failure, have garnered recent attention as potential anti-cancer and anti-viral agents. A high-throughput phenotypic screen designed to identify modulators of
Externí odkaz:
https://doaj.org/article/a364f22c4b134ec388b740ffc3d32178
Publikováno v:
Dermatologic Surgery. 47:86-93
BACKGROUND Surgical defects of the distal nose can pose significant reconstructive challenges. Free cartilage batten graft (FCBG) with secondary intention healing is an underreported yet effective repair option with cosmetically and functionally sati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e3db09e589197a989a28baf914021f5
https://doi.org/10.1097/dss.0000000000002714
https://doi.org/10.1097/dss.0000000000002714
Autor:
Katrina, Lowstuter, Carin R, Espenschied, Duveen, Sturgeon, Charité, Ricker, Rachid, Karam, Holly, LaDuca, Julie O, Culver, Jill S, Dolinsky, Elizabeth, Chao, Julia, Sturgeon, Virginia, Speare, Yanling, Ma, Kerry, Kingham, Marilena, Melas, Gregory E, Idos, Kevin J, McDonnell, Stephen B, Gruber
Publikováno v:
JCO precision oncology. 1
Mutations in theThis cross-sectional prevalence study included all patients who underwent MGPT between March 2012 and September 2014 from a commercial laboratory (n = 26,936) and an academic medical center cancer genetics clinic (n = 318) to estimate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70d4b2f957c47d2ae6b1920058282021
https://pubmed.ncbi.nlm.nih.gov/35172483
https://pubmed.ncbi.nlm.nih.gov/35172483
Autor:
Catherine, Rehder, Lora J H, Bean, David, Bick, Elizabeth, Chao, Wendy, Chung, Soma, Das, Julianne, O'Daniel, Heidi, Rehm, Vandana, Shashi, Lisa M, Vincent
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(8)
Next-generation sequencing (NGS) technologies are now established in clinical laboratories as a primary testing modality in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude. It is now
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4374f90f4d76183ff5b85f7e240bfcb3
https://pubmed.ncbi.nlm.nih.gov/33927380
https://pubmed.ncbi.nlm.nih.gov/33927380