Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Scott M Blackman"'
Autor:
Jiafen Gong, Fan Wang, Bowei Xiao, Naim Panjwani, Fan Lin, Katherine Keenan, Julie Avolio, Mohsen Esmaeili, Lin Zhang, Gengming He, David Soave, Scott Mastromatteo, Zeynep Baskurt, Sangook Kim, Wanda K O'Neal, Deepika Polineni, Scott M Blackman, Harriet Corvol, Garry R Cutting, Mitchell Drumm, Michael R Knowles, Johanna M Rommens, Lei Sun, Lisa J Strug
Publikováno v:
PLoS Genetics, Vol 15, Iss 2, p e1008007 (2019)
Cystic Fibrosis (CF) exhibits morbidity in several organs, including progressive lung disease in all patients and intestinal obstruction at birth (meconium ileus) in ~15%. Individuals with the same causal CFTR mutations show variable disease presenta
Externí odkaz:
https://doaj.org/article/3c571d7e43ec4d68b05079348aa2ac8e
Autor:
Lindsay B Henderson, Vishal K Doshi, Scott M Blackman, Kathleen M Naughton, Rhonda G Pace, Jackob Moskovitz, Michael R Knowles, Peter R Durie, Mitchell L Drumm, Garry R Cutting
Publikováno v:
PLoS Genetics, Vol 8, Iss 3, p e1002580 (2012)
Meconium ileus (MI), a life-threatening intestinal obstruction due to meconium with abnormal protein content, occurs in approximately 15 percent of neonates with cystic fibrosis (CF). Analysis of twins with CF demonstrates that MI is a highly heritab
Externí odkaz:
https://doaj.org/article/45751a0fa02245bd8f517a51a44e5351
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
Publikováno v:
Journal of Clinical & Translational Endocrinology, Vol 27, Iss , Pp 100287- (2022)
Cystic fibrosis related diabetes (CFRD) generally reflects insufficient and/or delayed production of insulin, developing slowly over years to decades. Multiple mechanisms have been implicated in the pathogenesis of CFRD. CFTR function itself is a str
Externí odkaz:
https://doaj.org/article/445624c58b0f46ffac18c8a839f85e60
Autor:
Yi-Hui Zhou, Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth E. Blue, Kati J. Buckingham, Joseph M. Collaco, Anna V. Faino, William W. Gordon, Kurt N. Hetrick, Hua Ling, Weifang Liu, Frankline M. Onchiri, Kymberleigh Pagel, Elizabeth W. Pugh, Karen S. Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Scott M. Blackman, Garry R. Cutting, Ronald L. Gibson, Wanda K. O’Neal, Fred A. Wright, Michael R. Knowles
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 207:1324-1333
Autor:
Melissa S. Putman, Andrew W. Norris, Rebecca L. Hull, Michael R. Rickels, Lori Sussel, Scott M. Blackman, Christine L. Chan, Katie Larson Ode, Tanicia Daley, Arlene A. Stecenko, Antoinette Moran, Meagan J. Helmick, Sharon Cray, Jessica A. Alvarez, Virginia A. Stallings, Katherine L. Tuggle, John P. Clancy, Thomas L. Eggerman, John F. Engelhardt, Andrea Kelly
Publikováno v:
Diabetes. 72:677-689
Cystic fibrosis (CF) is a recessive disorder arising from mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR is expressed in numerous tissues, with high expression in the airways, small and lar
Autor:
Quan Sun, Yingxi Yang, Jonathan D. Rosen, Min-Zhi Jiang, Jiawen Chen, Weifang Liu, Jia Wen, Laura M. Raffield, Rhonda G. Pace, Yi-Hui Zhou, Fred A. Wright, Scott M. Blackman, Michael J. Bamshad, Ronald L. Gibson, Garry R. Cutting, Michael R. Knowles, Daniel R. Schrider, Christian Fuchsberger, Yun Li
Publikováno v:
The American Journal of Human Genetics. 109:1986-1997
Whole-genome sequencing (WGS) is the gold standard for fully characterizing genetic variation but is still prohibitively expensive for large samples. To reduce costs, many studies sequence only a subset of individuals or genomic regions, and genotype
Autor:
Karen S. Raraigh, Wanda K. O'Neal, Michael R. Knowles, Michael J. Bamshad, Yi-Hui Zhou, Elizabeth Blue, Garry R. Cutting, Ronald L. Gibson, Melis A. Aksit, Hua Ling, Kurt N. Hetrick, Rhonda G. Pace, Scott M. Blackman
Publikováno v:
Journal of Cystic Fibrosis. 21:463-470
Background Cystic fibrosis (CF) is a recessive condition caused by variants in each CF transmembrane conductance regulator (CFTR) allele. Clinically affected individuals without two identified causal variants typically have no further interrogation o
Autor:
Andrew R Lavik, Osagie Ebekozien, Nudrat Noor, G Todd Alonso, Sarit Polsky, Scott M Blackman, Justin Chen, Sarah D Corathers, Carla Demeterco-Berggren, Mary Pat Gallagher, Margaret Greenfield, Ashley Garrity, Saketh Rompicherla, Robert Rapaport, Nana-Hawa Yayah Jones
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 107:1948-1955
Context The impact of the COVID-19 pandemic on individuals with type 1 diabetes remains poorly defined. Objective We examined United States trends in diabetic ketoacidosis (DKA) among individuals with type 1 diabetes (T1D) during the COVID-19 pandemi
Autor:
Melis Atalar Aksit, Joseph M. Collaco, Scott M. Blackman, Margaret Rosenfeld, Yi-Hui Zhou, Elizabeth E. Blue, Karen S. Raraigh, Garry R. Cutting, Frankline Onchiri, Michael R. Knowles, William W. Gordon, Ronald L. Gibson, Michael J. Bamshad, Anna V. Faino, Rhonda G. Pace
Publikováno v:
Journal of Cystic Fibrosis. 21:40-44
Chronic Pseudomonas aeruginosa (Pa) infection is associated with increased morbidity and mortality in people with cystic fibrosis (CF). There is no gold standard definition of chronic Pa infection in CF. We compared chronic Pa definitions using encou