Results 61 to 70 of about 606,407 (214)

De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon‐skipping variant

Neuropsychopharmacology Reports, 2018
Aim We previously performed the first trio‐based exome study for bipolar disorder and identified 71 de novo mutations. Among these mutations, the only mutation located at the splice donor site was in UNC13B.
Takumi Nakamura, Kotori Jimbo, Kazuo Nakajima, Takashi Tsuboi, Tadafumi Kato   +4 more
doaj   +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  

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation [PDF]

, 2013
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...
Rokach, O., Ruben Attali, Nevo, Y., Talya Dor, Fellig, Y., Straussberg Rachel, Rachel Straussberg, Aharoni S, TREVES, Susan Nella, Daana, M., Fellig Yakov, Becker Cohen Michal, Mitrani-Rosenbaum Stella, Attali R, Attali Ruben, Yoram Nevo, Rokach O, Attali, R., Dor, T., Becker Cohen M, Susan Treves, Mitrani-Rosenbaum, S., Fellig Y, Aharoni, S., Mitrani Rosenbaum S, Treves, S., Dor T, Nevo Yoram, Aharoni Sharon, Straussberg, R., Michal Becker Cohen, Dor Talya, Straussberg R, Becker Cohen, M., Ori Rokach, Muhannad Daana, Nevo Y., Treves Susan, Daana Muhannad, Stella Mitrani-Rosenbaum, Rokach Ori, Yakov Fellig, Daana M, Sharon Aharoni   +43 more
core   +2 more sources

Mechanisms and therapeutic opportunities of the ribotoxic stress response in cancer

Molecular Oncology, EarlyView.
Cancer cells' high translational demand creates opportunities to therapeutically target ribosome function. Ribosome stalling and collisions activate ZAKα and the ribotoxic stress response (RSR), which can trigger rapid, p53‐independent apoptosis in cancer.
Anastassiya Kim, Maryam Aslam, Elouise Torruella, Alphons Sony, Asif Rahman, Simira Smith, Columba de la Parra, Moira Sauane   +7 more
wiley   +1 more source

ISVASE: identification of sequence variant associated with splicing event using RNA-seq data

BMC Bioinformatics, 2017
Background Exon recognition and splicing precisely and efficiently by spliceosome is the key to generate mature mRNAs. About one third or a half of disease-related mutations affect RNA splicing.
Hasan Awad Aljohi, Wanfei Liu, Qiang Lin, Jun Yu, Songnian Hu   +4 more
doaj   +1 more source

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. [PDF]

PLoS ONE, 2011
BackgroundThe Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility.
Sofie Symoens, Fransiska Malfait, Philip Vlummens, Trinh Hermanns-Lê, Delfien Syx, Anne De Paepe   +5 more
doaj   +1 more source

Predicting the Impact of Alternative Splicing on Plant MADS Domain Protein Function [PDF]

, 2012
Several genome-wide studies demonstrated that alternative splicing (AS) significantly increases the transcriptome complexity in plants. However, the impact of AS on the functional diversity of proteins is difficult to assess using genome-wide approaches.
Morabito, G., Dijk, A.D.J., van, Severing, E.I., Busscher-Lange, J., Ham, R.C.H.J., van, Immink, G.H.   +5 more
core   +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

RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated β-catenin signaling in cholangiocarcinoma

Journal of Experimental & Clinical Cancer Research
Background Cholangiocarcinoma (CCA) comprises a heterogeneous group of biliary tract cancer. Our previous CCA mutation pattern study focused on genes in the post-transcription modification process, among which the alternative splicing factor RBM10 ...
Jiang Chang, Yaodong Zhang, Tao Zhou, Qian Qiao, Jijun Shan, Yananlan Chen, Wangjie Jiang, Yirui Wang, Shuochen Liu, Yuming Wang, Yue Yu, Changxian Li, Xiangcheng Li   +12 more
doaj   +1 more source

A case of Kabuki syndrome with precocious puberty and short stature due to novel KDM6A splice-site mutation [PDF]

Jichu yixue yu linchuang, 2021
Objective To investigate the pathogenic gene mutations and clinical characteristics of type 2 Kabuki syndrome by analyzing a patient with novel splicing KDM6A gene mutation.
ZHAO Ya-ling, LI Shu-ying, WANG Xi, NIE Min, WU Xue-yan, MAO Jiang-feng
doaj