Results 81 to 90 of about 142,271 (283)

Targeted therapies to improve CFTR function in cystic fibrosis [PDF]

, 2015
Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator ...
Brodlie, M, Elborn, JS, Haq, IJ, Roberts, K   +3 more
core   +2 more sources

UGA Nonsense Mutations in Salmonella typhimurium [PDF]

Journal of Bacteriology, 1970
Salmonella typhimurium strain LT-2 carries a weak UGA suppressor activity. This activity prevents the detection of some UGA mutants as auxotrophs and probably accounts for the rarity of his UGA mutants in this strain.
openaire   +2 more sources

Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome [PDF]

The American Journal of Human Genetics, 2010
The focal facial dermal dysplasias (FFDDs) are a group of inherited developmental disorders in which the characteristic diagnostic feature is bitemporal scar-like lesions that resemble forceps marks. To date, the genetic defects underlying these ectodermal dysplasias have not been determined.
Tukel, Turgut, Šošić, Dražen, Al-Gazali, Lihadh I., Erazo, Mónica, Casasnovas, Jose, Franco, Hector L., Richardson, James A., Olson, Eric N., Cadilla, Carmen L., Desnick, Robert J.   +9 more
openaire   +2 more sources

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

Advanced Science, EarlyView.
Phosphorylation of Optineurin by TBK1 induces the formation of filaments that condensate upon binding to linear polyubiquitin. Membrane‐anchored LC3 partitions into these condensates, suggesting that phase separation of filamentous Optineurin with ubiquitylated cargo promotes the sequestration of cargo and its subsequent alignment with LC3‐positive ...
Maria G. Herrera, Lena Kühn, Lisa Jungbluth, Verian Bader, Laura J. Krause, David Kartte, Elias Adriaenssens, Sascha Martens, Jörg Tatzelt, Carsten Sachse, Konstanze F. Winklhofer   +10 more
wiley   +1 more source

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To study the clinical features and gene mutations of early-onset epileptic encephalopathy (EOEE) and to explore the application in pathogenic diagnosis of EOEE by next generation sequencing. Methods The clinical data of 68 cases diagnosed with
Xiao-jun LIU, Pei-yuan ZHANG, Mei-fang LEI, Xin-ping WEI, Xiao-li YU, Dong LI, Jian-bo SHU, Chun-quan CAI, Yu-qin ZHANG   +8 more
doaj   +1 more source

Full UPF3B function is critical for neuronal differentiation of neural stem cells [PDF]

, 2015
Acknowledgments We thank Fred H Gage (Salk Institute, La Jolla, CA, USA) for HCN-A94 cells and Niels Gehring (University of Cologne, Germany) for constructs.
Alrahbeni, Tahani, Anderson, Jihan, McCaig, Colin, Miedzybrodzka, Zosia, Muller, Berndt, Sartor, Francesca   +5 more
core   +2 more sources

Spatial Profiling Reveals Distinct Molecular and Immune Evolution of Mouse Lung Adenocarcinoma Precancers with or Without Carcinogen Exposure

Advanced Science, EarlyView.
Tumor evolution in lung adenocarcinoma is shaped by genetic alterations and spatial immune dynamics. By integrating whole‐exome sequencing, imaging mass cytometry, and spatial transcriptomics across two mouse models, this study reveals how mutational burden, immune infiltration, and cell–state interactions evolve during early and late carcinogenesis ...
Bo Zhu, Muhammad Aminu, Pingjun Chen, Jian‐Rong Li, Chuanpeng Dong, Chenyang Li, Yanhua Tian, Shao‐Wei Lu, Hong Chen, Chenxi Ma, Xin Hu, Jie Ye, Andrew Y. Liu, Beibei Huang, Frank R. Rojas, Parra Cuentas. Edwin Roger, Ou Shi, Monique B. Nilsson, Alissa Poteete, Khaja B. Khan, Wei Lu, Luisa M. Solis Soto, Junya Fujimoto, Cara Haymaker, Ignacio I. Wistuba, Zhubo Wei, Linghua Wang, Don L. Gibbons, Ken Chen, Alexandre Reuben, Jason M. Schenkel, John V. Heymach, Chao Cheng, Jia Wu, Jianjun Zhang   +34 more
wiley   +1 more source

A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies

Journal of Current Ophthalmology, 2018
Purpose: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus.
Ali Torkashvand, Masoomeh Mohebbi, Hassan Hashemi   +2 more
doaj   +1 more source

Exposing the human nude phenotype [4] [PDF]

, 1999
Peer reviewedSubmitted ...
Ahmad, W., Aita, V. M., Baden, H., Brissette, J. L., Christiano, A. M., Cserhalmi-Friedman, P. B., Frank, J., Gaetaniello, L., Gordon, D., Ott, J., Panteleyev, A. A., Pignata, C., Pozzi, N., Prowse, David M., Uyttendaele, H., Weiner, L.   +15 more
core   +1 more source

Connexin40 nonsense mutation in familial atrial fibrillation

International Journal of Molecular Medicine, 2010
Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia associated with substantial morbidity and mortality. Genetic variants play important roles in the pathogenesis of AF. However, AF is a genetically heterogeneous disorder, and the genetic determinants in most patients with AF remain to be identified.
Yi-Qing, Yang, Xian-Ling, Zhang, Xin-Hua, Wang, Hong-Wei, Tan, Hai-Feng, Shi, Wei-Feng, Jiang, Wei-Yi, Fang, Xu, Liu   +7 more
openaire   +3 more sources