Results 171 to 180 of about 17,359 (221)

Identification of small molecules that enhance aminoglycoside-mediated suppression of <i>CFTR</i> and <i>NF1</i> nonsense mutations. [PDF]

Mol Ther Oncol
Sammons J, Chen J, Thrasher K, Fu L, Du M, Wen H, Bostwick JR, Vinson P, Moukha-Chafiq O, Augelli-Szafran C, Keeling KM, Wallis D, Kesterson RA, Rowe SM, Bedwell DM.   +14 more
europepmc   +1 more source

CFTR rescue in W1282X cystic fibrosis patient-derived intestinal organoids (PDIOs) mediated by translational readthrough-inducing drugs (TRIDs). [PDF]

Genet Med Open
Perriera R, Ramalho AS, Vermeulen F, Vitale E, Pibiri I, Pace A, Lentini L.   +6 more
europepmc   +1 more source

Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review. [PDF]

Front Pediatr
Cheng P, Wang G, Qiu J, Xie X, An Y.
europepmc   +1 more source

Stress granules at the crossroads of retroviral replication and antiviral immunity: mechanisms and therapeutic opportunities. [PDF]

Mol Biol Rep
Akbarin MM, Farjami Z, Álvarez HR.
europepmc   +1 more source

Origins and implications of intron retention quantitative trait loci in human tissues. [PDF]

Am J Hum Genet
Park E, Xing Y.
europepmc   +1 more source

ORFannotate: reproducible coding sequence annotation of transcriptome assemblies. [PDF]

Bioinformatics
García-Ruiz S, Macpherson H, Caton L, Ryten M, Gustavsson EK.   +4 more
europepmc   +1 more source

LTO1 and YAE1 regulate MHC-I expression via nonsense-mediated RNA decay in tumor cells. [PDF]

J Immunother Cancer
Yang Z, Meng Z, Liu S, Chen Y, Gan X, Zhang ZM, Luo X, Yan J, Chen H, Huang D, Huang L, Zeng X, Ma W, Liu J, Wang L, Huang H, Yang X, Hu M, Chen L, Du H, Leng Q, Qiu L, Wang X.   +22 more
europepmc   +1 more source

Two-layer quality control protects Arabidopsis from transcriptional errors under heat stress. [PDF]

Plant Cell
Hung YH.
europepmc   +1 more source

A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness. [PDF]

J Biol Chem
Shabbir K, Jackisch G, Belyantseva IA, Imran M, Naz S, Sele C, Murina V, Knecht W, Friedman TB, Logan DT, Imtiaz A.   +10 more
europepmc   +1 more source

Specificity of mRNA binding to proteins within the NMD machinery is influenced in cancer. [PDF]

Front Mol Biosci
Kalathiya U, Padariya M.
europepmc   +1 more source