Results 21 to 30 of about 553,332 (236)

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

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

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

Cytogenetic and Genetic Abnormalities with Diagnostic Value in Myelodysplastic Syndromes (MDS): Focus on the Pre-Messenger RNA Splicing Process

Diagnostics, 2022
Myelodysplastic syndromes (MDS) are considered to be diseases associated with splicing defects. A large number of genes involved in the pre-messenger RNA splicing process are mutated in MDS.
Nathalie Douet-Guilbert, Benoît Soubise, Delphine G. Bernard, Marie-Bérengère Troadec   +3 more
doaj   +1 more source

Corepressor diversification by alternative mRNA splicing is species specific. [PDF]

, 2016
BackgroundSMRT and NCoR are corepressor paralogs that help mediate transcriptional repression by a variety of transcription factors, including the nuclear hormone receptors.
Goodson, Michael L, Privalsky, Martin L, Snyder, Chelsea A   +2 more
core   +2 more sources

Evidence for a nuclear compartment of transcription and splicing located at chromosome domain boundaries [PDF]

, 1993
The nuclear topography of splicing snRNPs, mRNA transcripts and chromosome domains in various mammalian cell types are described. The visualization of splicing snRNPs, defined by the Sm antigen, and coiled bodies, revealed distinctly different ...
A Monneron, A Schneider-G�dicke, AK Raap, B Roggenbuck, C Benyajati, C Collins, C Cremer, C Zorn, CA Ascoli, D Pinkel, D Pinkel, DE Comings, DJ Arndt-Jovin, DL Spector, DL Spector, DL Spector, DL Spector, DL Spector, DM Shotton, EA Lerner, G Blobel, GJ Brakenhoff, HTM Voort Van der, I Raska, J Bradl, JB Lawrence, JD Northway, JG Gall, JR Paulson, KC Carter, L Manuelidis, L Manuelidis, L Manuelidis, L Manuelidis, LEC Andrade, M Bachmann, M Bouteille, M Carmo-Fonseca, M Carmo-Fonseca, M Carmo-Fonseca, M Carmo-Fonseca, M Hochstrasser, M Mattioli, M Schardin, N Hutchison, P Lichter, P Lichter, P Lichter, P Lichter, R Berezney, R Reuter, R Verheijen, S Fakan, S Fakan, S Huang, SA Berman, T Cremer, T Cremer, TM Jovin, U Bond, U Nyman, Y Hiraoka, y Ramon, Y Xing, Y Xing   +64 more
core   +1 more source

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]

, 2015
Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold, Grossmann, Vera, Haferlach, Torsten, Kanojia, Deepika, Koeffler, H Phillip, Kohlmann, Alexander, Li, Jia, Madan, Vikas, Miyano, Satoru, Ogawa, Seishi, Okamoto, Ryoko, Sanada, Masashi, Sato-Otsubo, Aiko, Shiraishi, Yuichi, Sundaresan, Janani, Thol, Felicitas, Yang, Henry   +16 more
core   +5 more sources

Rapid in vitro splicing of coding sequences from genomic DNA by isothermal recombination reaction-based PCR

Biotechnology & Biotechnological Equipment, 2016
Cloning of coding sequence (CDS) is an important step for gene function research. Here, we reported a simple and efficient strategy for assembling multiple-exon into an intron-free CDS from genomic DNA (gDNA) by an isothermal recombination reaction-based
Wenxuan Chen, Dongchang Zeng, Rongxin Shen, Xingliang Ma, Qunyu Zhang, Letian Chen, Yao-Guang Liu, Qinlong Zhu   +7 more
doaj   +1 more source

Exon definitive regions for MPC1 microexon splicing and its usage for splicing modulation

Molecular Therapy: Nucleic Acids, 2023
Alternative splicing of microexons (3–30 base pairs [bp]) is involved in important biological processes in brain development and human cancers. However, understanding a splicing process of non-3x bp microexons is scarce.
Eunjin Koh, Daye Shin, Kyung-Sup Kim
doaj   +1 more source