Results 31 to 40 of about 556,664 (302)

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [PDF]

, 2009
Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are classified as “splicing mutations,” but for almost 40% of these, their role in ...
BAFFICO AM, CAO A, CORDA D, FAA' V, INCANI, FEDERICA, MASALA, MADDALENA, MELONI A, ROSATELLI, MARIA CRISTINA, SEIA M   +8 more
core   +1 more source

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

Molecular Genetics & Genomic Medicine, 2020
Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant, Aurelia Poujois, Adrien Bloch, Tabaras Jordi, Jean‐Louis Laplanche, Hélène Morel, Corinne Collet   +6 more
doaj   +1 more source

New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing

Biology, 2021
RNA sequencing is a promising technique for detecting normal and aberrant RNA isoforms. Here, we present a new single-gene, straightforward 1-day hands-on protocol for detection of splicing alterations with deep RNA sequencing from blood.
Vita Šetrajčič Dragoš, Vida Stegel, Ana Blatnik, Gašper Klančar, Mateja Krajc, Srdjan Novaković   +5 more
doaj   +1 more source

A bioinformatic analysis identifies circadian expression of splicing factors and time-dependent alternative splicing events in the HD-MY-Z cell line [PDF]

, 2019
The circadian clock regulates key cellular processes and its dysregulation is associated to several pathologies including cancer. Although the transcriptional regulation of gene expression by the clock machinery is well described, the role of the clock ...
Abreu, Mónica, Astaburuaga, Rosario, Basti, Alireza, Genov, Nikolai, Relógio, Angela   +4 more
core   +1 more source

Spliced leader RNA trans-splicing in dinoflagellates [PDF]

Proceedings of the National Academy of Sciences, 2007
Through the analysis of hundreds of full-length cDNAs from fifteen species representing all major orders of dinoflagellates, we demonstrate that nuclear-encoded mRNAs in all species, from ancestral to derived lineages, are trans-spliced with the addition of the 22-nt conserved spliced leader (SL), DCCGUAGCCAUUUUGGCUCAAG (D = U, A, or G), to the 5′ end.
Huan, Zhang, Yubo, Hou, Lilibeth, Miranda, David A, Campbell, Nancy R, Sturm, Terry, Gaasterland, Senjie, Lin   +6 more
openaire   +2 more sources

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Frontiers in Genetics, 2018
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult.
Olatz Villate, Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada   +11 more
doaj   +1 more source

hnRNP A/B Proteins: An Encyclopedic Assessment of Their Roles in Homeostasis and Disease

Biology, 2021
The hnRNP A/B family of proteins is canonically central to cellular RNA metabolism, but due to their highly conserved nature, the functional differences between hnRNP A1, A2/B1, A0, and A3 are often overlooked. In this review, we explore and identify the
Patricia A. Thibault, Aravindhan Ganesan, Subha Kalyaanamoorthy, Joseph-Patrick W. E. Clarke, Hannah E. Salapa, Michael C. Levin   +5 more
doaj   +1 more source

Robust low loss splicing of hollow core photonic bandgap fiber to itself [PDF]

, 2013
Robust, low loss (0.16dB) splicing of hollow core photonic band gap fiber to itself is presented. Modal content is negligibly affected by splicing, enabling penalty-free 40Gbit/s data transmission over > 200m of spliced ...
Gray, D.R., Parmigiani, F., Petrovich, M.N., Poletti, F., Richardson, D.J., Wheeler, N.V., Wooler, J.P.   +6 more
core   +1 more source

In Vitro Comparison of Sex-Specific Splicing Efficiencies of fem Pre-mRNA under Monoallelic and Heteroallelic Conditions of csd, a Master Sex-Determining Gene in the Honeybee

Journal of Developmental Biology, 2023
The sexual fate of honeybees is determined by the complementary sex determination (CSD) model: heterozygosity at a single locus (the CSD locus) determines femaleness, while hemizygosity or homozygosity at the CSD locus determines maleness.
Yukihiro Suzuki, Takafumi Yamada, Masataka G. Suzuki   +2 more
doaj   +1 more source

Saturation mutagenesis reveals manifold determinants of exon definition. [PDF]

, 2017
To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we conducted saturation mutagenesis of a 51-nt internal exon in a three-exon minigene.
Anquetil, Vincent, Arias, Mauricio A., Chasin, Lawrence A., Ju, Jingyue, Kalachikov, Sergey, Ke, Shengdong, Maity, Alisha, Russo, James J, Yang, Anthony, Zamalloa, Jorge Rojas   +9 more
core   +2 more sources