Results 111 to 120 of about 11,911 (175)

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

Background TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Elena Bueno-Martínez, Eladio A. Velasco-Sampedro, Fortuno, C, Caldes, Sonsoles, Bueno-Martínez, Elena, Cristina Fortuno, Sanoguera-Miralles, L, James, Paul, Lara Sanoguera-Miralles, Bueno-Martínez, E, Hoya, Miguel de la, Sonsoles Caldes, Canson, D., Miguel de la Hoya, Spurdle, Amanda B., Velasco-Sampedro, EA, Llinares-Burguet, Inés, James, PA, Spurdle, AB, Inés Llinares-Burguet, Fortuno, C., Velasco, Eladio, Sanoguera-Miralles, Lara, Daffodil M. Canson, de la Hoya, M, Amanda B. Spurdle, Paul A. James, Llinares-Burguet, I, Canson, DM, Caldes, S   +29 more
core   +1 more source

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics. [PDF]

J Med Genet
Calandra N, Mereu E, Ogliara P, Casalis Cavalchini G, Giachino DF, Parasiliti Caprino M, Gai G, Mussa A, Vallero S, Grosso E, Zonta A, Fagioli F, Ruggiu M, Pasini B, Piva R.   +14 more
europepmc   +1 more source

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B. [PDF]

NPJ Precis Oncol
Köhler A, Baumann AA, Lewis N, Richter A, Richter S, William D, Cruz-García A, Glimm H, Fröhling S, Le Duc D, Schröck E, Jahn A.   +11 more
europepmc   +1 more source

Targeting <i>EZH2</i> oncogenic splicing: decoding the regulatory network and antisense correction. [PDF]

Genes Dev
Islam MR, Nagar P, McNaughton N, Heeamoni SA, Hasan MM, Kandel S, Mukta IJ, Tsakiroglou P, Dalton WB, Abdel-Wahab O, Krainer AR, Rahman MA.   +11 more
europepmc   +1 more source

Functional Validation of a Novel Homozygous <i>TTN</i> Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy. [PDF]

Hum Mutat
Sun X, Wang D, Wang S, Wan R, Jiang Z, Zhang W, Ouyang J, Shen Y, Hong K.   +8 more
europepmc   +1 more source

Reclassification of the <i>GRIA3</i> splice-site variant in an X-linked family with intellectual disability and psychiatric symptoms. [PDF]

Front Genet
Hu L, Chai Y, Liu X, Wang Y, Jiang H.
europepmc   +1 more source

Correction: Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus

Frontiers in Genetics
Shijie Zhou, Shijie Zhou, Hao Zhang, Hao Zhang, Xue Li, Xue Li, Quan Chen, Quan Chen, Zhihong Xu, Zhihong Xu   +9 more
doaj   +1 more source

Splicing dependency between EIF4G2 introns is mediated by exon definition and relies on a downstream splicing event. [PDF]

J Biol Chem
Pelletier ML, Vincent J, Malo T, Séguin C, Tsybulskyi V, Semenchenko E, Soumana Adamou I, Meyer IM, Choquet K.   +8 more
europepmc   +1 more source

A Novel Splice Variant in the <i>COL1A1</i> Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta. [PDF]

Hum Mutat
Zhang Y, Liu H, Yin A, Liu S, Huang W, Zhang Y, Jia B.   +6 more
europepmc   +1 more source

In vitro analysis of the effects of intronic variants c.940+3_940+6del, c.941-3C>G, and c.2389+5G>A in the LDLR gene on pre-mRNA splicing using a minigene assay. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Danilchenko VY, Ivanoshchuk DE, Timoshchenko OV, Panina EA, Orlov PS, Shakhtshneider EV.   +5 more
europepmc   +1 more source