Results 141 to 150 of about 2,306,587 (203)

Pathogen Effector-Mediated Reprogramming of Plant Alternative Splicing: From Immune Regulation to Crop Disease Resistance. [PDF]

Plants (Basel)
Li Y, Mao J, Kou S.
europepmc   +1 more source

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis. [PDF]

Mol Genet Genomic Med
Nakamura N, Nishio Y, Nyuzuki H, Fukushima A, Miura M, Kobayashi Y, Ishioka R, Tsukada K, Oka Y, Tsujikawa K, Morinaga H, Inaba M, Tohyama J, Nakazawa Y, Ikeuchi T, Ono T, Saitoh S, Ogi T.   +17 more
europepmc   +1 more source

The link between mRNA 3’ tagging and Nonsense-Mediated mRNA Decay (NMD) in Aspergillus nidulans

, 2019
openaire   +1 more source

PRMT1-SFPQ regulates intron retention to control matrix gene expression during craniofacial development. [PDF]

Elife
Lima JR, Ungvijanpunya N, Chen Q, Pham HQH, Rosen T, Park G, Vantankhah M, Yen S, Chai Y, Merrill AE, Liu Z, Chen JF, Yang Y, Peng W, Xu J.   +14 more
europepmc   +1 more source

A targetable dependency on nonsense-mediated decay for cellular homeostasis and immune control in small cell lung cancer. [PDF]

Mol Cancer
Torres-Fernández LA, Boehm V, Kaufmann J, Becker JP, Garcia-Marquez M, de Bruijn B, Rumińska A, Müller C, Bosco G, Alavinejad N, Lovric L, Bihler JI, Schulte H, Davoodi P, Schöllhorn A, Weihrauch KR, Kaiser L, Ibruli O, Liu F, Androulidaki A, Wobst N, Schmiel M, Valiulis J, Maas L, D'Rozario J, Sakthivelu V, Göbel B, Touet M, Brägelmann J, Höpker K, John F, Wolf J, Knapp S, Quaas A, Cartolano M, von Karstedt S, Beleggia F, Rammensee HG, Gouttefangeas C, Schlößer HA, Riemer AB, Reinhardt HC, Gehring NH, Peifer M, Thomas RK, George J.   +45 more
europepmc   +1 more source

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions. [PDF]

Am J Hum Genet
Cheng YH, Sedeño-Cortés AE, Ranchalis JE, Munson KM, Vollger MR, Balton E, Genetti CA, Undiagnosed Diseases Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium, University of Washington Center for Rare Diseases Research, Wilson JL, Wojcik MH, Beggs AH, Bamshad MJ, Wei CL, Dipple KM, Kumar RD, Fleming MD, Glass IA, Blue EE, Jarvik G, Chong JX, Witten DM, O'Donnell-Luria A, Stergachis AB.   +24 more
europepmc   +1 more source

A Variant in Abhydrolase Domain Containing 14A (<i>ABHD14A</i>) and the Suspicion of Aminoacylase 1 (<i>ACY1</i>) Deficiency. [PDF]

JIMD Rep
Klaas L, López-Martín E, Martinez-Delgado B, de la Paz MP, Ribes A, Sass JO.   +5 more
europepmc   +1 more source

LncRNA Gas5, a Target of the Nonsense-Mediated Decay Pathway in the Brain, Regulates Neuroinflammation and Neurodegenerative Disease Pathways in a Tauopathy Mouse Model. [PDF]

Int J Mol Sci
Krause-Hauch M, Wang B, Patel RS, Verdina L, Hedrick A, Blair LJ, Dharap A, Cai J, Patel NA.   +8 more
europepmc   +1 more source

Nonsense-Mediated RNA Decay Is a Targetable Vulnerability in Splicing Factor Mutant Myeloid Neoplasms by Enhancing R-Loop Accumulation and DNA Damage. [PDF]

Cancer Res
Pastrana CC, Nonavinkere Srivatsan S, Alberti MO, Hossan T, Ahmed T, Shao J, Chavez M, Grieb S, Padro JI, Paul DM, George DR, Patil A, Rai S, Graubert TA, Bailis JM, You Z, Walter MJ.   +16 more
europepmc   +1 more source

Identification and Functional Characterization of a Novel De Novo <i>SATB1</i> Frameshift Variant in a Patient with Epilepsy-Dominant Neurodevelopmental Disorders. [PDF]

Genes (Basel)
Xu M, Zhang R, Fan S, Sun M, Zhang X.
europepmc   +1 more source