Results 141 to 150 of about 64,882 (210)

Prime editing for the investigation of aberrant splicing defect associated with a pathogenic <i>PRPH2</i> variant. [PDF]

Mol Ther Nucleic Acids
Lopes da Costa B, Helms KM, Theodore K, Tsai YT, Caruso SM, Liu S, Lima de Carvalho JR, Nolan ND, Tahir S, Makinson CD, Tsang SH, Quinn PMJ.   +11 more
europepmc   +1 more source

All reported non-canonical splice site variants in GLA cause aberrant splicing. [PDF]

Clin Exp Nephrol, 2023
Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S, Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M, Nozu K.   +17 more
europepmc   +1 more source

Genetic‐Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) develops after a prolonged preclinical phase. Identifying circulating biomarkers that capture this early biology can improve risk stratification and guide intervention. We aimed to identify plasma proteins driving MS susceptibility using large‐scale proteogenomic integration and to evaluate their prediagnostic ...
Yuan Ding, Dylan Hamitouche, Simon Thebault, Patrick Kearns, Ahmed Abdelhak, Adil Harroud   +5 more
wiley   +1 more source

Aberrant Splicing Burden Predicts Immune Infiltration and Prognosis in Head and Neck Squamous Cell Carcinomas. [PDF]

Head Neck
Kalavacherla S, Bendik J, Victor M, Carter H, Califano JA, Guo T.   +5 more
europepmc   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome. [PDF]

CEN Case Rep
Nagano C, Aoyama S, Kimura Y, Inoki Y, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Nozu K.   +8 more
europepmc   +1 more source

Aberrant Splicing of <i>DNM1L</i> Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1). [PDF]

Circ Genom Precis Med
Adesanya O, Nabie P, Betancourt A, Kalsotra A.   +3 more
europepmc   +1 more source

CLN6-related continuum phenotype caused by aberrant splicing. [PDF]

Epilepsia Open
Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L.   +16 more
europepmc   +1 more source

Indole‐3‐Acetic Acid Protects Bovine Hepatocytes Against Palmitic Acid‐Induced Lipid Accumulation and ER Stress Through SIRT3

Animal Research and One Health, EarlyView.
Cows with ketosis during the perinatal period often experience damage to the liver, a core metabolic organ, thereby exacerbating the disease's inherent vicious cycle. This study indicates that serum 3‐IAA concentrations were reduced in ketotic cows and show a significant negative correlation with hepatic TG content.
Dandan Qi, Chenchen Zhao, Guiying Li, Jinxia Li, Menglin Liu, Fanrong Kong, Enzhu Li, Jie Gao, Wenqi Liao, Akos Kenez, Wenwen Gao, Yuxiang Song, Xiliang Du, Guowen Liu, Xinwei Li, Lin Lei   +15 more
wiley   +1 more source

Transcriptome-wide decoding the roles of aberrant splicing in melanoma MAPK-targeted resistance evolution. [PDF]

EMBO Rep
Yu J, He X, Wang X, Yu C, Jiang X, Li Y, Liu X, Luo Y, Chen X, Wu S, Si L, Jing J, Ma X, Shi H.   +13 more
europepmc   +1 more source