Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Scott Mellis"'
Publikováno v:
Frontiers in Public Health, Vol 12 (2024)
There is an urgent need for increased understanding of COVID-19 and strategies for its prevention, treatment, and mitigation. All participants in the research enterprise, including institutional review boards, have an ethical duty to protect particip
Externí odkaz:
https://doaj.org/article/70b54d8677434f3ca760176cc9ae5685
Autor:
Maja Di Rocco, Eduardo Forleo-Neto, Robert Pignolo, Richard Keen, Philippe Orcel, Thomas Funck-Brentano, Christian Roux, Sami Kolta, Annalisa Madeo, Judith S Bubbear, Jacek Tabarkiewicz, Małgorzata Szczepanek, Javier Bachiller-Corral, Angela M Cheung, Kathryn M Dahir, Esmée Botman, Pieter G Raijmakers, Mona Al Mukaddam, Lianne Tile, Cynthia Portal-Celhay, Neena Sarkar, Peijie Hou, Bret Musser, Anita Boyapati, Kusha Mohammadi, Scott Mellis, Andrew J. Rankin, Aris N. Economides, Dinko Gonzalez Trotter, Gary Herman, Sarah J. O’Meara, Richard DelGizzi, David M. Weinreich, George D. Yancopolous, E. Marelise W. Eekhoff, Frederick S. Kaplan
BackgroundFibrodysplasia ossificans progressiva (FOP), an ultra-rare disorder caused by mutations in the gene encoding activin A receptor type 1 (ACVR1), is characterized by painful flare-ups and cumulative heterotopic ossification (HO). Garetosmab,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c882b21013c888887c75dbb8599f68a0
https://doi.org/10.1101/2023.01.11.23284254
https://doi.org/10.1101/2023.01.11.23284254
Publikováno v:
Advances in Therapy
Advances in therapy, 38(6):3185-3202
Advances in therapy, 38(6):3185-3202
Introduction Identifying risk factors for progression to severe COVID-19 requiring urgent medical visits and hospitalizations (UMVs) among patients initially diagnosed in the outpatient setting may help inform patient management. The objective of thi
Autor:
Aurelie Bouzelmat, Hayes Dansky, Richard L. Dunbar, Daniel A. Gipe, Robert Pordy, Scott Mellis, Poulabi Banerjee, Kuo Chen Chan, Sara Hamon, Zahid Ahmad, William J. Sasiela
Publikováno v:
Circulation
Supplemental Digital Content is available in the text.
Background: Hypertriglyceridemia is associated with increased cardiovascular risk and may be caused by impaired lipoprotein clearance. Angiopoietin-like protein 3 (ANGPTL3) inhibits lipoprot
Background: Hypertriglyceridemia is associated with increased cardiovascular risk and may be caused by impaired lipoprotein clearance. Angiopoietin-like protein 3 (ANGPTL3) inhibits lipoprot
Autor:
Judith Bubbear, Cynthia Portal-Celhay, Dinko Gonzalez Trotter, Eduardo Forleo-Neto, Robert J Sanchez, Małgorzata Szczepanek, Jacek Tabarkiewicz, Sami Kolta, Christian Roux, Esmée Botman, Annalisa Madeo, Scott Mellis, Thomas Funck-Brentano, Jennifer Mcginniss, Peijie Hou, E. Marelise W. Eekhoff, Angela M. Cheung, Lianne Tile, Aris N. Economides, Philippe Orcel, Richard Keen, Maja Di Rocco, Andrew J Rankin, Frederick S. Kaplan, Robert J. Pignolo, Neena Sarkar, Javier Bachiller-Corral, Mona Al Mukaddam, Kathryn Dahir
Publikováno v:
Journal of the Endocrine Society. 5:A251-A252
Background: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, autosomal dominant disorder driven by mutations in ACVR1 that render it responsive to Activin A. FOP is characterized by progressive heterotopic ossification (HO) and distressi
Autor:
Donna L. Robinson, Cristopher V. Van Hout, Mindy Kuebler, Millie Young, Kavita Praveen, Erik G. Puffenberger, Scott Mellis, Aris Baras, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Kevin A. Strauss, Alejandra King, Robert N. Jinks, Jeffrey G. Reid, John D. Overton, Frederick E. Dewey, Katie B. Williams, Ian Finnegan, Adam D. Heaps
Publikováno v:
Genetics in Medicine. 20:31-41
PurposeWe integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.MethodsSeventy-nine probands (newborn to 49.8 years) who presented between 1998
Autor:
Alex Lopez, Jerome I. Rotter, Yii-Der Ida Chen, Lukas Habegger, Anders Berg Wulff, Richard L Dunbar, John Penn, Anita M. van den Hoek, An Zhao, Omri Gottesman, Cristopher V. Van Hout, Scott M. Damrauer, Tanya M. Teslovich, Aurelie Bouzelmat, Daniel J. Rader, Poulabi Banerjee, David J. Carey, Viktoria Gusarova, Shane McCarthy, Frederick E. Dewey, Kae-Woei Liang, David H. Ledbetter, Gary Herman, Rick Zhang, Alan R. Shuldiner, Svati H. Shah, Claudia Schurmann, Neil Stahl, Marylyn D. Ritchie, Sara Hamon, Colm O'Dushlaine, Ingrid B. Borecki, Daniel A. Gipe, Jesper Gromada, Hans M.G. Princen, Børge G. Nordestgaard, H. Lester Kirchner, Michael F. Murray, Shannon Bruse, Aris Baras, Jeffrey G. Reid, Wayne H-H Sheu, William E. Kraus, Xiuqing Guo, Aeron Small, Brad Shumel, William J. Sasiela, Anne Tybjærg-Hansen, Andrew J. Murphy, Joseph B. Leader, John D. Overton, Robert Pordy, Scott Mellis, Weiping Shao, George D. Yancopoulos, Hayes Dansky, I-Te Lee
Publikováno v:
New England Journal of Medicine. 377:211-221
BackgroundLoss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol. It is not kno
Autor:
Anne M. Comi, Mustafa Sahin, Adrienne Hammill, Emma H. Kaplan, Csaba Juhász, Paula North, Karen L. Ball, Alex V. Levin, Bernard Cohen, Jill Morris, Warren Lo, E. Steve Roach, Nicolas Abreu, Maria Acosta, Audina Berrocal, Joyce Bischoff, James Brodie, Craig Burkhart, Gosia Dymerska, David Eckstein, Mabel Enriquez-Algeciras, Joshua Ewen, Brian Fisher, Sharon Freedman, Emily Germain-Lee, Roy Geronemus, Michael Gold, Rashmi Gopal-Srivastava, Adelaide Hebert, Lan Huang, Henry Jampel, Matsanga Kaseka, Yasmine Kirkorian, Eric Kossoff, Doris Lin, Jeffrey Loeb, Kalyani Marathe, Doug Marchuk, Alice Mead, Scott Mellis, Timothy Murray, Thuy Phung, Anna Pinto, Kate Puttgen, Nancy Ratner, Jennifer Reeve, Steve Roach, Charles Swindell, Hung Tseng, Miriya Tune, Sarah Wetzel-Strong, Monica White, Vicky Whittemore
Publikováno v:
Pediatric Neurology. 58:12-24
Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (por
Autor:
Christina Austin-Tse, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Noura S. Abul-Husn, Semanti Mukherjee, Samantha N. Fetterolf, Cristopher V. Van Hout, Monica A. Giovanni, Matthew S. Lebo, Omri Gottesman, Frederick E. Dewey, Thomas N. Person, Lukas Habegger, Korey A. Kost, Lance J. Adams, H. Lester Kirchner, James R. Elmore, Aris N. Economides, Christopher D. Still, Alexander H. Li, David J. Carey, Sarah A. Pendergrass, Anthony Marcketta, Jeffrey Staples, Marylyn D. Ritchie, Colm O'Dushlaine, Nehal Gosalia, Manoj Kanagaraj, William A. Faucett, John Penn, Raghu Metpally, Ingrid B. Borecki, Kavita Praveen, Jonathan S. Packer, Shannon Bruse, Andrew J. Murphy, Joseph B. Leader, Michael F. Murray, Suganthi Balasubramanian, Neil Stahl, Jeffrey G. Reid, David H. Ledbetter, Dustin N. Hartzel, Kimberly A. Skelding, F. Daniel Davis, Alexander Lopez, Aris Baras, George D. Yancopoulos, Scott Mellis, Robert H. Phillips, John D. Overton, Heather Mason-Suares, Lyndon J. Mitnaul, Daniel R. Lavage
Publikováno v:
Science. 354
Unleashing the power of precision medicine Precision medicine promises the ability to identify risks and treat patients on the basis of pathogenic genetic variation. Two studies combined exome sequencing results for over 50,000 people with their elec
Autor:
Shirletta King-Davis, Neil Stahl, Allen Radin, Howard R. Knapp, John S. Sundy, H. Ralph Schumacher, George D. Yancopoulos, Yuhwen Soo, Scott Mellis, Robert Terkeltaub, Steven P. Weinstein
Publikováno v:
Arthritis & Rheumatism. 64:876-884
Objective To evaluate the interleukin-1 inhibitor rilonacept (Interleukin-1 Trap) for prevention of gout flares occurring in the first few months following initiation of urate-lowering therapy. Methods In this double-blind study, adult patients with