Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Jaclyn R, Stonebraker"'
Autor:
Adam J. Shapiro, Kimberley Kaspy, M. Leigh Ann Daniels, Jaclyn R. Stonebraker, Van‐Hung Nguyen, Lyne Joyal, Michael R. Knowles, Maimoona A. Zariwala
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
Abstract Background Primary ciliary dyskinesia (PCD) is a mostly autosomal recessive, genetic disease of abnormal motile cilia function, resulting in bronchiectasis, infertility, organ laterality defects, and chronic otolaryngology disease. Though mo
Externí odkaz:
https://doaj.org/article/88d3f62e6430487ba83e8d3d4331ea81
Publikováno v:
American journal of respiratory cell and molecular biology. 67(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b38cdced2a8c2a53a2a4abd03e239be9
https://pubmed.ncbi.nlm.nih.gov/36178856
https://pubmed.ncbi.nlm.nih.gov/36178856
Autor:
Hong Dang, Deepika Polineni, Rhonda G Pace, Jaclyn R Stonebraker, Harriet Corvol, Garry R Cutting, Mitchell L Drumm, Lisa J Strug, Wanda K O'Neal, Michael R Knowles
Publikováno v:
PLoS ONE, Vol 15, Iss 11, p e0239189 (2020)
Genome wide association studies (GWAS) have identified several genomic loci with candidate modifiers of cystic fibrosis (CF) lung disease, but only a small proportion of the expected genetic contribution is accounted for at these loci. We leveraged e
Externí odkaz:
https://doaj.org/article/8c1afe02419b4d98ad3f33a6e9cdaaad
Publikováno v:
American Journal of Respiratory Cell and Molecular Biology. 67:511-514
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7bf465c3440e63d0973fdb3ad74805a0
https://doi.org/10.1165/rcmb.2022-0176le
https://doi.org/10.1165/rcmb.2022-0176le
Autor:
Deepika Polineni, Annalisa V Piccorelli, William B Hannah, Sarah N Dalrymple, Rhonda G Pace, Peter R Durie, Simon C Ling, Michael R Knowles, Jaclyn R Stonebraker
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0205257 (2018)
Previous reports of lung function in cystic fibrosis (CF) patients with liver disease have shown worse, similar, or even better forced expiratory volume in 1 second (FEV1), compared to CF patients without liver disease. Varying definitions of CF live
Externí odkaz:
https://doaj.org/article/d610d9ed73a640a49d3eeb82b2a77946
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis
Autor:
Melis A. Aksit, Hua Ling, Rhonda G. Pace, Karen S. Raraigh, Frankline Onchiri, Anna V. Faino, Kymberleigh Pagel, Elizabeth Pugh, Adrienne M. Stilp, Quan Sun, Elizabeth E. Blue, Fred A. Wright, Yi-Hui Zhou, Michael J. Bamshad, Ronald L. Gibson, Michael R. Knowles, Garry R. Cutting, Scott M. Blackman, Elizabeth Blue, Kati Buckingham, Jessica X. Chong, J. Michael Collaco, Hong Dang, Alice Eastman, Anna Faino, Paul J. Gallins, Ronald Gibson, Beth Godwin, William W. Gordon, Kurt Hetrick, Le Huang, Anh-Thu N. Lam, Weifang Liu, Yun Li, Wanda K. O'Neal, Mark Porter, Rebekah Mikeasky, Margaret Rosenfeld, Jonathan Rosen, Adrienne Stilp, Jaclyn R. Stonebraker, Jia Wen, Yingxi Yang, Peng Zhang, Yan Zhang
Publikováno v:
Am J Hum Genet
Individuals with cystic fibrosis (CF) develop complications of the gastrointestinal tract influenced by genetic variants outside of CFTR. Cystic fibrosis-related diabetes (CFRD) is a distinct form of diabetes with a variable age of onset that occurs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d09c34d6790eb0f5198d0a02cc3acfb
https://pubmed.ncbi.nlm.nih.gov/36206743
https://pubmed.ncbi.nlm.nih.gov/36206743
Autor:
Lyne Joyal, Michael R. Knowles, M Leigh Ann Daniels, Jaclyn R. Stonebraker, Van-Hung Nguyen, Maimoona A. Zariwala, Kimberley Kaspy, Adam J. Shapiro
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Primary ciliary dyskinesia (PCD) is a mostly autosomal recessive, genetic disease of abnormal motile cilia function, resulting in bronchiectasis, infertility, organ laterality defects, and chronic otolaryngology disease. Though motile, epe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1005943b2f5c54dfa5767f05da24f3eb
https://doi.org/10.1002/mgg3.1726
https://doi.org/10.1002/mgg3.1726
Autor:
Xueliang Guo, Rhonda G Pace, Jaclyn R Stonebraker, Clayton W Commander, Anthony T Dang, Mitchell L Drumm, Ann Harris, Fei Zou, Dallas M Swallow, Fred A Wright, Wanda K O'Neal, Michael R Knowles
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e25452 (2011)
Variability in cystic fibrosis (CF) lung disease is partially due to non-CFTR genetic modifiers. Mucin genes are very polymorphic, and mucins play a key role in the pathogenesis of CF lung disease; therefore, mucin genes are strong candidates as gene
Externí odkaz:
https://doaj.org/article/450c09bf72a943378dff9a008e93174b
Autor:
Jaclyn R. Stonebraker, Ashley R. Rowson-Hodel, Alexander D. Borowsky, Matthew Saldana, Kacey VanderVorst, Jason Hatakeyama, Wanda K. O'Neal, Kermit L. Carraway, Colleen A Sweeney, Jessica H. Wald
Publikováno v:
Oncogene, vol 37, iss 2
Oncogene
Oncogene
Mucin-4 (Muc4) is a large cell surface glycoprotein implicated in the protection and lubrication of epithelial structures. Previous studies suggest that aberrantly expressed Muc4 can influence the adhesiveness, proliferation, viability and invasivene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66bab9523bd54e1b62277ac99faba6e6
https://doi.org/10.1038/onc.2017.327
https://doi.org/10.1038/onc.2017.327
Autor:
Jaclyn R. Stonebraker, Wanda K. O'Neal, Garry R. Cutting, Lisa J. Strug, Hong Dang, Michael R. Knowles, Deepika Polineni, Rhonda G. Pace, Harriet Corvol, Mitchell L. Drumm
Publikováno v:
PLoS ONE
PLoS ONE, Vol 15, Iss 11, p e0239189 (2020)
PLoS ONE, Vol 15, Iss 11, p e0239189 (2020)
Genome wide association studies (GWAS) have identified several genomic loci with candidate modifiers of cystic fibrosis (CF) lung disease, but only a small proportion of the expected genetic contribution is accounted for at these loci. We leveraged e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8667efad647e8ac3b7cd2688c019cddf
https://doi.org/10.1371/journal.pone.0239189
https://doi.org/10.1371/journal.pone.0239189