Results 251 to 260 of about 1,412,344 (374)

Balancing Nonsense Mutation Readthrough and Toxicity of Designer Aminoglycosides for Treatment of Genetic Diseases. [PDF]

ACS Med Chem Lett, 2023
Guchhait S, Khononov A, Pieńko T, Belakhov V, Baasov T.   +4 more
europepmc   +1 more source

Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion [PDF]

, 2000
Qi Long Lu, Glenn E. Morris, Steve D. Wilton, T. Ly, Olga V. Artemyeva, Peter Strong, Terence A. Partridge   +6 more
openalex   +1 more source

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial.

The Lancet Respiratory Medicine, 2014
E. Kerem, M. Konstan, K. De Boeck, F. Accurso, I. Sermet-Gaudelus, M. Wilschanski, J. Elborn, P. Melotti, I. Bronsveld, I. Fajac, A. Malfroot, D. Rosenbluth, Patricia A. Walker, S. McColley, C. Knoop, S. Quattrucci, E. Rietschel, P. Zeitlin, J. Barth, G. Elfring, E. Welch, A. Branstrom, R. Spiegel, S. Peltz, T. Ajayi, S. Rowe   +25 more
semanticscholar   +1 more source

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

Pediatric Investigation, EarlyView.
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li, Ming Cheng, Min Liu, Wenjing Li, Yuchuan Li, Bingyan Cao, Liya Wei, Yuan Ding, Xi Meng, Lele Li, Chunxiu Gong   +10 more
wiley   +1 more source

Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient. [PDF]

Front Genet, 2023
Li D, Li S, Zhou J, Zheng L, Liu G, Ding C, Yuan X.   +6 more
europepmc   +1 more source

Compound Heterozygosity for an Apolipoprotein A1 Gene Promoter Mutation and a Structural Nonsense Mutation With Apolipoprotein A1 Deficiency

, 1999
Akira Matsunaga, Junichi Sasaki, Hua Han, Wei Huang, Mari Kugi, Takafumi Koga, Sadanori Ichiki, Tomoko Shinkawa, Kikuo Arakawa   +8 more
openalex   +1 more source

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency [PDF]

, 2000
S. Kikuchi, Akito Tanoue, F. Endo, Shoji Wakasugi, Naoki Matsuo, Gozoh Tsujimoto   +5 more
openalex   +1 more source

Sample Preparation for Multi‐Omics Analysis: Considerations and Guidance for Identifying the Ideal Workflow

PROTEOMICS, EarlyView.
ABSTRACT Advances in methodologies and technologies over the past decade have led to an unprecedented depth of analysis of a cell's biomolecules, with entire genomes able to be sequenced in hours and up to 10,000 transcripts or ORF products (proteins) able to be quantified from a single cell.
Breyer Woodland, Luke A. Farrell, Lana Brockbals, Maria Rezcallah, Aiden Brennan, Emily J. Sunnucks, Sam T. Gould, Aleksandra M. Stanczak, Matthew B. O'Rourke, Matthew P. Padula   +9 more
wiley   +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

A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer. [PDF]

Mol Genet Metab Rep, 2023
Cuenca D, Ventura-Gallegos JL, Almeda-Valdes P, Tusié-Luna MT, Reza-Albarran A, Ventura-Ayala L, Ordoñez-Sánchez ML, Segura-Kato Y, Gomez-Perez FJ, Conte MP, Gonzalez LR, Zentella-Dehesa A.   +11 more
europepmc   +1 more source