Results 201 to 210 of about 204,351 (287)

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

A case of childhood hyperekplexia due to a novel nonsense variant in the GLRA1 gene. [PDF]

Medicine (Baltimore)
Lin SZ, Sun XY, Tan YY, Qi YF, Jiang K.
europepmc   +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

Genetic variants underlying precancerous conditions of hepatocellular carcinoma

International Journal of Cancer, Volume 158, Issue 3, Page 488-502, 1 February 2026.
Abstract Hepatocellular carcinoma (HCC) is the most common form of liver cancer, accounting for 80% of cases worldwide. While chronic hepatitis B and C infections remain primary risk factors, emerging evidence highlights the increasing contributions of metabolic dysfunction‐associated steatotic liver disease (MASLD) and alcohol‐associated liver disease
Jonathan Jaime G. Guerrero, Paolo C. Encarnacion, Mark Angelo S. del Rosario, Matthew Aldren S. Ora, Jiayan Zhou, Kin Israel Notarte, Wan‐Chun Li, Ching‐Wen Chang   +7 more
wiley   +1 more source

Current Trends in Duchenne Muscular Dystrophy Research and Therapy: 3D Cardiac Modelling

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Duchenne muscular dystrophy (DMD), caused by dystrophin deficiency, presents a multifaceted challenge that affects both skeletal muscle function and cardiomyocyte homeostasis, causing progressive degeneration and life‐threatening cardiac complications by adolescence.
Marta Przymuszała, Marta Białobrzeska, Józef Dulak, Urszula Florczyk‐Soluch   +3 more
wiley   +1 more source

Characterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment. [PDF]

Einstein (Sao Paulo)
Chami AM, Zózimo TRS, Matosinho CGR, Silva-Filho ALD, Carvalho MRS, Braga LDC.   +5 more
europepmc   +1 more source

Human Upf Proteins Target an mRNA for Nonsense-Mediated Decay When Bound Downstream of a Termination Codon

Cell, 2000
J. Lykke-Andersen, M. Shu, J. Steitz
semanticscholar   +1 more source

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

Clinical Genetics, Volume 109, Issue 2, Page 346-351, February 2026.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

Start Right to End Right: Authentic Open Reading Frame Selection Matters for Nonsense-Mediated Decay Target Identification. [PDF]

Genes (Basel)
Bagherian M, Harris G, Sathishkumar P, Lloyd JPB.   +3 more
europepmc   +1 more source

Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.

Proceedings of the National Academy of Sciences of the United States of America, 1991
Tomoyuki Matsunaga, Y. Hiasa, H. Yanagi, Toshihiro Maeda, N. Hattori, K. Yamakawa, Y. Yamanouchi, Isao Tanaka, T. Obara, H. Hamaguchi   +9 more
semanticscholar   +1 more source