Results 211 to 220 of about 199,160 (290)

An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations. [PDF]

Nucleic Acids Res
Specht C, Tapia A, Penrod S, Soriano GA, Awawdeh A, Alshawi SA, White CA, Beaudoin JD, Doud EH, Vargas-Rodriguez O, Huang Y, Tharp JM.   +11 more
europepmc   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

At‐RS31 orchestrates hierarchical cross‐regulation of splicing factors and integrates alternative splicing with TOR‐ABA pathways

New Phytologist, Volume 247, Issue 2, Page 738-759, July 2025.
Summary Alternative splicing is essential for plants, enabling a single gene to produce multiple transcript variants to boost functional diversity and fine‐tune responses to environmental and developmental cues. Arabidopsis thaliana At‐RS31, a plant‐specific splicing factor in the Serine/Arginine‐rich (SR) protein family, responds to light and the ...
Tino Köster, Peter Venhuizen, Martin Lewinski, Ezequiel Petrillo, Yamile Marquez, Armin Fuchs, Debashish Ray, Barbara A. Nimeth, Stefan Riegler, Sophie Franzmeier, Florencia S. Rodríguez, Federico E. Aballay, Rocío S. Tognacca, Hong Zheng, Timothy Hughes, Quaid Morris, Andrea Barta, Dorothee Staiger, Maria Kalyna   +18 more
wiley   +1 more source

Measuring and Detecting Molecular Adaptation in Codon Usage Against Nonsense Errors During Protein Translation

Genetics, 2009
M. Gilchrist, Premal Shah, R. Zaretzki
semanticscholar   +1 more source

A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations. [PDF]

Thromb J
Chen W, Hu J.
europepmc   +1 more source

The proteoglycan decorin does not influence adiposity, glucose tolerance, or aerobic exercise capacity in mice

Physiological Reports, Volume 13, Issue 13, July 2025.
Decorin deficiency does not have a major impact on glucose tolerance, metabolic adaptation, or aerobic exercise performance. Abstract Physical activity is associated with improvements in insulin sensitivity and muscle function. The proteoglycan decorin is increased in skeletal muscle and plasma in response to exercise, but the biological implications ...
Casey L. Egan, Atanaska Doncheva, Martin Pal, Sarah L. Fox, Knut Tomas Dalen, Martin Whitham, Mark A. Febbraio, Marit Hjorth   +7 more
wiley   +1 more source

Novel variants of the ATRX gene identified in MYCN non-amplified Neuroblastoma in Brazilian patients. [PDF]

Clinics (Sao Paulo)
Magalhães Gimenez T, Peralta VP, Giorgi RR, Morikawa K, Vince CC, Halley N, Siqueira SA, Bendit I, Cristofani LM, Filho VO, Novak EM.   +10 more
europepmc   +1 more source

Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report. [PDF]

Sci Prog
Cadena-Ullauri S, Tamayo-Trujillo R, Paz-Cruz E, Guevara-Ramírez P, Ruiz-Pozo VA, Cuenca FA, Zambrano AK.   +6 more
europepmc   +1 more source

Comprehensive analysis of clinical phenotype and genetic characteristics of retinoblastoma caused by <i>RB1</i> gene mutation: a case series. [PDF]

Am J Cancer Res
Fu Z, Liu Y, Yang H, Xiong W, Yin X, Fang W, Li X, Wei X, Hu J.   +8 more
europepmc   +1 more source

Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseases. [PDF]

Nucleic Acids Res
Bhat SY, Bhattacharya A, Li H, Cui X, Lueck JD, Goldman YE, Cooperman BS.   +6 more
europepmc   +1 more source