Results 101 to 110 of about 240,839 (324)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Partial correlation analysis indicates causal relationships between GC-content, exon density and recombination rate in the human genome [PDF]

BMC Bioinformatics, 10(suppl 1), S66 (2009), 2009
{\bf Background}: Several features are known to correlate with the GC-content in the human genome, including recombination rate, gene density and distance to telomere. However, by testing for pairwise correlation only, it is impossible to distinguish direct associations from indirect ones and to distinguish between causes and effects. {\bf Results}: We
arxiv   +1 more source

MRAS: Master Regulator Analysis of Alternative Splicing

Advanced Science, EarlyView.
This study developed a computational approach called MRAS, designed to identify master regulators of splicing differences across various biological contexts. In this framework, altered RBP expression, rather than spliceosomal mutations or other modifications, plays a central role in driving these splicing differences.
Lei Zhou, Yue Huang, Yang Zhao, Dan Guo, Xiao Wen, Ruihong Xu, Xuan Lv, Song Wu, Sicheng Jing, Zhaoqi Liu   +9 more
wiley   +1 more source

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

Journal of Translational Medicine, 2023
Background ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined.
Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers   +8 more
doaj   +1 more source

Inhomogeneous DNA: conducting exons and insulating introns [PDF]

Phys. Rev. B 80 (2009) 085420, 2009
Parts of DNA sequences known as exons and introns play very different role in coding and storage of genetic information. Here we show that their conducting properties are also very different. Taking into account long-range correlations among four basic nucleotides that form double-stranded DNA sequence, we calculate electron localization length for ...
arxiv   +1 more source

Targeting PTBP3‐Mediated Alternative Splicing of COX11 Induces Cuproptosis for Inhibiting Gastric Cancer Peritoneal Metastasis

Advanced Science, EarlyView.
The splicing factor PTBP3 promotes COX11 exon skipping, allowing gastric cancer organoids to evade cuproptosis. Antisense oligonucleotide drugs targeting PTBP3‐mediated COX11 alternative splicing, in combination with copper ionophores, promote cuproptosis in organoids, thereby providing a therapeutic approach for gastric cancer peritoneal metastasis ...
Yajing Zhou, Chao Dong, Xiaochun Shen, Pengbo Wang, Tao Chen, Weikang Li, Xiaotong Sun, Peiyuan Li, Chengxiang Xu, Kaipeng Duan, Dongbao Li, Jin Zhou   +11 more
wiley   +1 more source

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models

Molecular Therapy: Nucleic Acids, 2019
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Florian Barthélémy, Richard T. Wang, Christopher Hsu, Emilie D. Douine, Eugene E. Marcantonio, Stanley F. Nelson, M. Carrie Miceli   +6 more
doaj  

Identification and Biological Evaluation of a Novel CLK4 Inhibitor Targeting Alternative Splicing in Pancreatic Cancer Using Structure‐Based Virtual Screening

Advanced Science, EarlyView.
Pancreatic cancer is a highly aggressive malignancy with limited treatment options. CLK4 regulates alternative splicing, contributing to cancer progression. This study establishes a computational model to identify CLK4 inhibitors, leading to compound 150441 (IC50: 21.4 nm).
Chun‐Lin Yang, Yi‐Wen Wu, Huang‐Ju Tu, Yun‐Hsuan Yeh, Tony Eight Lin, Tzu‐Ying Sung, Mu‐Chun Li, Shih‐Chung Yen, Jui‐Hua Hsieh, Ming‐Chin Yu, Sen‐Yung Hsieh, Hsing‐Pang Hsieh, Shiow‐Lin Pan, Kai‐Cheng Hsu   +13 more
wiley   +1 more source

Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient. [PDF]

PLoS ONE, 2010
BACKGROUND: Antisense oligonucleotide-induced exon skipping is a promising approach for treatment of Duchenne muscular dystrophy (DMD). We have systemically administered an antisense phosphorodiamidate morpholino oligomer (PMO) targeting dystrophin exons
Takashi Saito, Akinori Nakamura, Yoshitsugu Aoki, Toshifumi Yokota, Takashi Okada, Makiko Osawa, Shin'ichi Takeda   +6 more
doaj   +1 more source

Erratum: Therapeutic exon skipping for dysferlinopathies? [PDF]

European Journal of Human Genetics, 2010
Correction to: European Journal of Human Genetics advance online publication, 10 February 2010; doi:10.1038/ejhg.2010.4 The authors of this paper apologise for having to report an error in Figure 3 and Table 2. The corrected figure and table are presented below.
Kavita H K Singh, Ivo F.A.C. Fokkema, Gert-Jan B. van Ommen, Silvère M. van der Maarel, Ieke B. Ginjaar, Johan T. den Dunnen, Annemieke Aartsma-Rus   +6 more
openaire   +1 more source