Results 51 to 60 of about 127,159 (238)

Wild-type mouse models to screen antisense oligonucleotides for exon-skipping efficacy in Duchenne muscular dystrophy. [PDF]

PLoS ONE, 2014
A readily available animal model is essential for rapidly identifying effective treatments for Duchenne muscular dystrophy (DMD), a devastating neuromuscular disorder caused by the lack of dystrophin protein, which results from frame-disrupting mutations
Limin Cao, Gang Han, Ben Gu, HaiFang Yin
doaj   +1 more source

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

Molecular Genetics & Genomic Medicine, 2021
Background Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert ...
Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer   +5 more
doaj   +1 more source

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy

Molecular Therapy: Nucleic Acids, 2018
Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee, Rika Maruyama, William Duddy, Hidetoshi Sakurai, Toshifumi Yokota   +4 more
doaj   +1 more source

Exon-skipping events and differentially expressed exons found in B. xylophilus.

, 2016
(a) Visualization of differentially expressed exons in Bx-eng-1 gene (highlighted in red).
Dewei Li (2806207), Sixi Lin (2806210), Xiaoqin Wu (470428), Bo Nian (2806213), Xiaolei Ding (2806216), Jianren Ye (322176)   +5 more
core   +1 more source

ANTISENSE MEDIATED DYSTROPHIN READING FRAME RESTORATION [PDF]

, 2010
Exon skipping using antisense oligonucleotides (AONs) has successfully been used to reframe the mRNA in various DMD (Duchenne muscular dystrophy) patients carrying deletions and in the mdx mouse model.
Spitali, Pietro
core  

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

Molecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan, Veronika M Metzler, Simone de Brot, Corinne L Woodcock, Anna E Harris, Jennifer Lothion‐Roy, Emeli M Nilsson, Atara Ntekim, Michael S Toss, Jenny L Persson, Francesca Khani, Brian D Robinson, Lorraine J Gudas, Emad Rakha, David M Heery, Catrin S Rutland, Nigel P Mongan   +16 more
wiley   +1 more source

Exon 17 skipping in CLCN1 leads to recessive myotonia congenita

, 2004
Mutations in CLCN1, the gene encoding the ClC-1 chloride channel in skeletal muscle, lead to myotonia congenita. The effects on the intramembranous channel forming domains have been investigated more than that at the intracellular C-terminus.
Schaerer, Martin, Lie Chen, Sigel, Erwin, Lu, Zen H, Gallati, Sabina, Sabina Gallati, Kappeler, Lilianne, Erwin Sigel, Chen, Lie, Franziska Joncourt, Joachim Weis, Fritschi, Juerg, Burgunder, Jean-Marc, Lilianne Kappeler, Weis, Joachim, Jean‐Marc Burgunder, Lang, Doris, Joncourt, Franziska, Martin Schaerer, Doris Lang, Zen H. Lu, Juerg Fritschi   +21 more
core   +1 more source

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source

SPHINX31 acts as a SRPK1 inhibitor targeting the ATR/DNA‐PKcs/CHK1 replicative checkpoint to inhibit cell growth in non‐small cell lung cancer

Molecular Oncology, EarlyView.
The kinase SRPK1 directly interacts with the protein TOPBP1 and regulates the pre‐mRNA splicing of WIZ thereby contributing to the activation of the ATR/CHK1 replicative checkpoint in response to replicative stress. This allows cancer cells' genomic stability and survival.
Amani Shreim, Aurelie Genoux, Nadiia Zubchuk, Haoyang Zheng, Perla Salameh, Theo Ziegelmeyer, Fabien Dalonneau, Margot Rouchette, Christiane Oddou, Simona Miron, Helene Polveche, Adiilah Mamode Cassim, Carmen Garrido, Eleni Nikolakaki, Didier Auboeuf, Tao Jia, Sophie Zinn‐Justin, Beatrice Eymin   +17 more
wiley   +1 more source

The Future of Exon Skipping for Duchenne Muscular Dystrophy

Human Gene Therapy, 2023
Antisense oligonucleotide (ASO)-mediated exon skipping can restore the open reading frame of dystrophin transcripts for Duchenne muscular dystrophy (DMD) patients. This allows production of internally deleted dystrophin proteins as found in the later onset, less severely progressive Becker muscular dystrophy.
openaire   +3 more sources