Zobrazeno 1 - 10
of 331
pro vyhledávání: '"A. M. Blackman"'
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
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:
Nuria Tapia-Ruiz, Alexandra G. Gordon, Catherine M. Jewell, Hannah K. Edwards, Charles W. Dunnill, James M. Blackman, Colin P. Snape, Paul D. Brown, Ian MacLaren, Matteo Baldoni, Elena Besley, Jeremy J. Titman, Duncan H. Gregory
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
Lithium nitride is the only stable binary alkali metal-nitrogen compound and shows promise for energy applications involving the transport of lithium ions. Here, the authors demonstrate that lithium nitride nanostructures can be grown as fibres and s
Externí odkaz:
https://doaj.org/article/4317de5b4b764e789a9b4544628d8166
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8a88ca30acf5dd09840564e633fef49
https://doi.org/10.1164/rccm.202209-1653oc
https://doi.org/10.1164/rccm.202209-1653oc
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eb55f5e1de29e45a35794f2f19379ee
https://doi.org/10.2337/db22-0949
https://doi.org/10.2337/db22-0949
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b4d816b50df519646c97ca65c9e218c
https://doi.org/10.1016/j.ajhg.2022.09.009
https://doi.org/10.1016/j.ajhg.2022.09.009
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:
Wenjie Wu, Adnane Nemri, Leila M Blackman, Ann-Maree Catanzariti, Jana Sperschneider, Gregory J Lawrence, Peter N Dodds, David A Jones, Adrienne R Hardham
Publikováno v:
PLoS ONE, Vol 14, Iss 12, p e0226106 (2019)
Secreted effectors of fungal pathogens are essential elements for disease development. However, lack of sequence conservation among identified effectors has long been a problem for predicting effector complements in fungi. Here we have explored the e
Externí odkaz:
https://doaj.org/article/27569a45f73a45f1bbd3cd8ea71fe788
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a409da7f5676649f85837adef4c37f67
https://doi.org/10.1016/j.jcf.2021.10.011
https://doi.org/10.1016/j.jcf.2021.10.011