Results 201 to 210 of about 199,160 (290)

Advancing Therapeutic Strategies for Nonsense-Related Diseases: From Small Molecules to Nucleic Acid-Based Innovations. [PDF]

IUBMB Life
Ricci D, Cruciata I, Fiduccia I, Vitale E, Corrao F, Branchini A, Carollo PS, Pibiri I, Lentini L.   +8 more
europepmc   +1 more source

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family

Clinical Genetics, Volume 108, Issue 1, Page 102-106, July 2025.
Biallelic PCSK1 loss‐of‐function mutations cause proprotein convertase 1/3 (PC1/3) deficiency, a polyendocrinopathy; a total of 36 patients were reported. The first deep intronic PCSK1 variant, (NM_000439.5):c.1196+2681T>A, was found to segregate with the disease in a consanguineous family, and is shown together with 32 reported mutations.
Leah M. Huber, Aslı Subaşıoğlu, Dorota Garczarczyk‐Asim, Taras Valovka, Thomas Müller, Rüdiger Adam, Andreas R. Janecke   +6 more
wiley   +1 more source

A quantitative comparison of the deleteriousness of missense and nonsense mutations using the structurally resolved human protein interactome. [PDF]

Protein Sci
Su TY, Xia Y.
europepmc   +1 more source

TP53‐Mutated Acute Myeloid Leukemia and Blast Phase Myeloproliferative Neoplasm: Distinct Mutation Leads to Poorer Prognosis

European Journal of Haematology, Volume 115, Issue 1, Page 57-63, July 2025.
ABSTRACT Patients with TP53 mutations in acute myeloid leukemia (AML) and blast phase myeloproliferative neoplasms (MPN‐BP) experience similar poor clinical outcomes. A retrospective analysis of 39 patients with TP53 mutations (23 with AML and 16 with MPN‐BP) revealed comparable mutation patterns associated with prognostic significance.
Dong Chen, Miguel Cantu, Alexa Siddon, Olga K. Weinberg   +3 more
wiley   +1 more source

PTBP1 and Cancer: From RNA Regulation to Therapeutic Potential

Journal of Cellular and Molecular Medicine, Volume 29, Issue 13, July 2025.
ABSTRACT Polypyrimidine tract binding protein 1 (PTBP1) belongs to the heterogeneous nuclear ribonucleoprotein (hnRNP) family and is a widely studied RNA‐binding protein involved in regulating mRNA splicing, stability, localization, and translation. In addition, PTBP1 can participate in various non‐coding RNA action processes and affect tumorigenesis ...
Chengdong Ji, Jing Zhu, Xiaochen Hou, Chen Zhou, Jiumei Zhao, Xiang Zheng, Yu Tang   +6 more
wiley   +1 more source

Therapeutic Potential of Translational Readthrough at Disease-Associated Premature Termination Codons From Tumor Suppressor Genes. [PDF]

IUBMB Life
Torices L, Nunes-Xavier CE, Pulido R.
europepmc   +1 more source

Contrasting Evolutionary Trajectories Under Paternal Genome Elimination in Male and Female Citrus Mealybugs

Molecular Ecology, Volume 34, Issue 13, July 2025.
ABSTRACT Most studies of sex‐biased genes explore their evolution in familiar chromosomal sex determination systems, leaving the evolution of sex differences under alternative reproductive systems unknown. Here we explore the system of paternal genome elimination employed by mealybugs (Hemiptera: Pseudococcidae) which have no sex chromosomes.
Andrew J. Mongue, Tamsin E. Woodman, Hollie Marshall, Arkadiy Garber, José C. Franco, John P. McCutcheon, Laura Ross   +6 more
wiley   +1 more source

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression

Proceedings of the National Academy of Sciences of the United States of America, 2016
Bijoyita Roy, W. Friesen, Y. Tomizawa, J. Leszyk, Jin Zhuo, Briana Johnson, J. Dakka, C. Trotta, X. Xue, V. Mutyam, K. Keeling, J. Mobley, S. Rowe, D. Bedwell, E. Welch, A. Jacobson   +15 more
semanticscholar   +1 more source

MyoAAV-delivered sup-tRNA increases full-length dystrophin expression. [PDF]

Genes Dis
Ai X, Chang Y, Wu R, Liu J, Zhang P, Wang Y, Zheng Z, Zhang S, Chen Y, Wu S.   +9 more
europepmc   +1 more source

Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression

Proceedings of the National Academy of Sciences of the United States of America, 2009
D. Auld, Natasha Thorne, W. Maguire, James Inglese   +3 more
semanticscholar   +1 more source