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of 4
pro vyhledávání: '"Amita Thakerar"'
Autor:
Karen S. Raraigh, Kathleen C. Paul, Jennifer L. Goralski, Erin N. Worthington, Anna V. Faino, Stanley Sciortino, Yiting Wang, Melis A. Aksit, Hua Ling, Derek L. Osorio, Frankline M. Onchiri, Shivani U. Patel, Christian A. Merlo, Kristina Montemayor, Ronald L. Gibson, Natalie E. West, Amita Thakerar, Robert J. Bridges, David N. Sheppard, Neeraj Sharma, Garry R. Cutting
Publikováno v:
JCI Insight, Vol 7, Iss 6 (2022)
The chloride channel dysfunction caused by deleterious cystic fibrosis transmembrane conductance regulator (CFTR) variants generally correlates with severity of cystic fibrosis (CF). However, 3 adults bearing the common severe variant p.Phe508del (le
Externí odkaz:
https://doaj.org/article/78b4738b6909425d927439919d715df3
Autor:
Bihler, Hermann, Sivachenko, Andrey, Millen, Linda, Bhatt, Priyanka, Patel, Amita Thakerar, Chin, Justin, Bailey, Violaine, Musisi, Isaac, LaPan, André, Allaire, Normand E., Conte, Joshua, Simon, Noah R., Magaret, Amalia S., Raraigh, Karen S., Cutting, Garry R., Skach, William R., Bridges, Robert J., Thomas, Philip J., Mense, Martin
Publikováno v:
In Journal of Cystic Fibrosis July 2024 23(4):664-675
Akademický článek
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Autor:
Venkateshwar Mutyam, Xiaojiao Xue, David M. Bedwell, Kim M. Keeling, Robert J. Bridges, Amita Thakerar, James A. Mobley, Steven M. Rowe
Publikováno v:
Human molecular genetics. 26(16)
In-frame premature termination codons (PTCs) account for ∼11% of all disease-associated mutations. PTC suppression therapy utilizes small molecules that suppress translation termination at a PTC to restore synthesis of a full-length protein. PTC su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70dc12b04905a51c2f3126f892e2dde8
https://pubmed.ncbi.nlm.nih.gov/28575328
https://pubmed.ncbi.nlm.nih.gov/28575328