Zobrazeno 1 - 10
of 17 536
pro vyhledávání: '"cftr"'
Autor:
Young SM; College of Veterinary Medicine, University of Missouri Comparative Medicine Program, Columbia, Missouri, United States., Woode RA; Department of Biomedical Sciences, University of Missouri, Columbia, Missouri, United States., Williams EC; Department of Biomedical Sciences, University of Missouri, Columbia, Missouri, United States., Ericsson AC; College of Veterinary Medicine, University of Missouri Comparative Medicine Program, Columbia, Missouri, United States.; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, Missouri, United States.; College of Veterinary Medicine, University of Missouri Metagenomics Center, Columbia, Missouri, United States., Clarke LL; Department of Biomedical Sciences, University of Missouri, Columbia, Missouri, United States.; Dalton Cardiovascular Research Center, University of Missouri, Columbia, Missouri, United States.
Publikováno v:
Physiological genomics [Physiol Genomics] 2024 Mar 01; Vol. 56 (3), pp. 247-264. Date of Electronic Publication: 2023 Dec 11.
Autor:
Harris ES; Gregory Fleming James Cystic Fibrosis Research Center, Univ. of Alabama at Birmingham, Birmingham, AL, USA., Novak L; Department of Microbiology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Fernandez-Petty CM; Gregory Fleming James Cystic Fibrosis Research Center, Univ. of Alabama at Birmingham, Birmingham, AL, USA., Lindgren NR; Gregory Fleming James Cystic Fibrosis Research Center, Univ. of Alabama at Birmingham, Birmingham, AL, USA., Baker SM; Synspira Therapeutics, Inc., Framingham, MA, USA., Birket SE; Gregory Fleming James Cystic Fibrosis Research Center, Univ. of Alabama at Birmingham, Birmingham, AL, USA; Departments of Pediatrics, and Cell Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, AL, USA., Rowe SM; Gregory Fleming James Cystic Fibrosis Research Center, Univ. of Alabama at Birmingham, Birmingham, AL, USA; Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA; Departments of Pediatrics, and Cell Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: smrowe@uab.edu.
Publikováno v:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2023 Nov; Vol. 22 (6), pp. 1104-1112. Date of Electronic Publication: 2023 Sep 14.
Autor:
Tan X; Department of Gastroenterology, Hannover Medical School, 30625 Hannover, Germany., Kini A; Department of Gastroenterology, Hannover Medical School, 30625 Hannover, Germany., Römermann D; Department of Gastroenterology, Hannover Medical School, 30625 Hannover, Germany., Seidler U; Department of Gastroenterology, Hannover Medical School, 30625 Hannover, Germany.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Sep 01; Vol. 23 (17). Date of Electronic Publication: 2022 Sep 01.
Autor:
Karina Kleinfelder, Paola Melotti, Anca Manuela Hristodor, Cristina Fevola, Giovanni Taccetti, Vito Terlizzi, Claudio Sorio
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Predictions based on patient-derived materials of CFTR modulators efficacy have been performed lately in patient-derived cells, extending FDA-approved drugs for CF patients harboring rare variants. Here we developed intestinal org
Externí odkaz:
https://doaj.org/article/e49aa8d519cc46a4aa28df4276322072
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-12 (2024)
Abstract Background Cystic fibrosis (CF) is a fatal genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, disrupting ion transport. This results in organ damage and reduced life expectancy. Main
Externí odkaz:
https://doaj.org/article/cc996d71d27642d39fded2328e3086c3
Publikováno v:
Balkan Journal of Medical Genetics, Vol 27, Iss 1, Pp 31-36 (2024)
Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR). The aim of the study was to present
Externí odkaz:
https://doaj.org/article/c369a5830bb64f6f8b1a19804c54be23
Publikováno v:
Diagnostic Pathology, Vol 19, Iss 1, Pp 1-5 (2024)
Abstract Cystic fibrosis (CF) is an autosomal recessive inherited disease caused by variants of cystic fibrosis transmembrane conductance regulation (CFTR) gene. This report presents a case of a Chinese boy diagnosed with CF, attributed to the presen
Externí odkaz:
https://doaj.org/article/8669ce2fb6a94df7a4d2e52e4186954a
Autor:
Shih-Hsing Leir, Svyatoslav Tkachenko, Alekh Paranjapye, Frederick Meckler, Arnaud J. Van Wettere, Jenny L. Kerschner, Elizabeth Kuznetsov, Makayla Schacht, Pulak Gillurkar, Misha Regouski, Iuri Viotti Perisse, Cheyenne M. Marriott, Ying Liu, Ian Bunderson, Kenneth L. White, Irina A. Polejaeva, Ann Harris
Publikováno v:
Molecular Medicine, Vol 30, Iss 1, Pp 1-29 (2024)
Abstract Background Pancreatic fibrosis is an early diagnostic feature of the common inherited disorder cystic fibrosis (CF). Many people with CF (pwCF) are pancreatic insufficient from birth and the replacement of acinar tissue with cystic lesions a
Externí odkaz:
https://doaj.org/article/3d9ef7d36912408cb3c56c41ca33552c
Autor:
Daniela Gois Meneses, Fábia Regina dos Santos, Anne Jardim Botelho, Luciana Mota Bispo, Camilla Guerra Matos, Vynicius Goltran Sobral Propheta, Alexia Ferreira Rodrigues, Géssica Uruga Oliveira, Angela Maria da Silva, Ricardo Queiroz Gurgel
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-10 (2024)
Abstract Introduction In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotyp
Externí odkaz:
https://doaj.org/article/bde99b85132a480aabeb02579f501263
Autor:
Zhao L; Department of Pharmacy, the First Affiliated Hospital of Sun Yat-sen University, 510080 Guangzhou, Guangdong, China.; Department of Pharmacology, Zhongshan School of Medicine, Sun Yat-sen University, 510080 Guangzhou, Guangdong, China., Yuan F; Department of Pharmacology, Zhongshan School of Medicine, Sun Yat-sen University, 510080 Guangzhou, Guangdong, China., Pan N; Department of Pharmacology, Zhongshan School of Medicine, Sun Yat-sen University, 510080 Guangzhou, Guangdong, China., Yu Y; Department of Ophthalmology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, 510120 Guangzhou, Guangdong, China., Yang H; Department of Pharmacology, Zhongshan School of Medicine, Sun Yat-sen University, 510080 Guangzhou, Guangdong, China., Liu Y; Department of Pharmacology, Zhongshan School of Medicine, Sun Yat-sen University, 510080 Guangzhou, Guangdong, China., Wang R; School of Data and Computer Science, Sun Yat-sen University, 51006 Guangzhou, Guangdong, China., Zhang B; Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, 510080 Guangzhou, Guangdong, China., Wang G; Department of Pharmacology, Zhongshan School of Medicine, Sun Yat-sen University, 510080 Guangzhou, Guangdong, China.
Publikováno v:
Frontiers in bioscience (Landmark edition) [Front Biosci (Landmark Ed)] 2021 Dec 30; Vol. 26 (12), pp. 1396-1410.