Results 291 to 300 of about 384,167 (334)

KSHV reprograms host RNA splicing via FAM50A to activate STAT3 and drive oncogenic cellular transformation. [PDF]

mBio
Sun S, Ding L, Paniagua K, Wang X, Huang Y, Flores MA, Gao S-J.   +6 more
europepmc   +1 more source

RNA secondary structure and mountain plot for LAMB3 variants identified in EB patients (A) Wild-type RNA structure of the LAMB3 gene at the c.1977-1G > A splice acceptor site, showing a minimum free energy (MFE) of −132.75 kcal/mol.

Nancy Shehata (22258357), Babajan Banaganapalli (704628), Hadiah Bassam Al Mahdi (22258360), Shmoukh Alghuraibi (22258363), Mahmoud Younis (8831199), Sultana Abdulghani (22258366), Noor Ahmad Shaik (7889981), Zuhier Awan (10925105), Fahad Hakami (720371)   +8 more
openalex   +1 more source

Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large‐Scale, Multi‐Cohort Proteomic Study

Annals of Neurology, EarlyView.
Objective Biomarkers with clear contexts of use are important tools for amyotrophic lateral sclerosis (ALS) therapy development. Understanding their longitudinal trajectory in the untreated state is key to their use as potential markers of pharmacodynamic response.
Oleksandr Dergai, Joanne Wuu, Magdalena Koziczak‐Holbro, Andrea Malaspina, Volkan Granit, Jessica P. Hernandez, Anne Cooley, Ruchika Sachdev, Lili Yu, Michael Bidinosti, Ludivine Flotte, Mark Nash, Lori L. Jennings, James D. Berry, Lucie I. Bruijn, Sophie Brachat, Michael Benatar   +16 more
wiley   +1 more source

Tumour-wide RNA splicing aberrations generate actionable public neoantigens. [PDF]

Nature
Kwok DW, Stevers NO, Etxeberria I, Nejo T, Colton Cove M, Chen LH, Jung J, Okada K, Lakshmanachetty S, Gallus M, Barpanda A, Hong C, Chan GKL, Liu J, Wu SH, Ramos E, Yamamichi A, Watchmaker PB, Ogino H, Saijo A, Du A, Grishanina NR, Woo J, Diaz A, Hervey-Jumper SL, Chang SM, Phillips JJ, Wiita AP, Klebanoff CA, Costello JF, Okada H.   +30 more
europepmc   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Identified five variants in CFTR gene that alter RNA splicing by minigene assay. [PDF]

Front Genet
Zhang B, Zhang Y, Zhang Y, Liu X, Zhang R, Wang Z, Pan F, Xu N, Shao L.   +8 more
europepmc   +1 more source

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, EarlyView.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

Differential Transcript Expression and Alternative RNA Splicing Patterns to Differentiate Focal vs. Generalized-Onset Seizures. [PDF]

Mol Neurobiol
Verma R, Bullinger KL, Pearson A, Dhakar M, Guven E, Amini E, Simon RP, Meller R.   +7 more
europepmc   +1 more source