Results 81 to 90 of about 606,407 (214)

IGF2 knockout reduces but does not abolish osteosarcoma growth in vitro and in vivo

FEBS Open Bio, EarlyView.
To test whether endogenous IGF2 promotes osteosarcoma growth, IGF2 was knocked out in Saos2 cells via CRISPR‐Cas9. KO cells showed reduced proliferation in vitro, and knockout xenografts in mice reached only ~25% of wild‐type tumor volume. Insulin‐like growth factor 2 (IGF2) is implicated in osteosarcoma, but direct functional evidence of its role is ...
Shun Yao, Marco Archetti
wiley   +1 more source

Genome-wide analysis of gene expression and alternative splicing in human medulloblastoma [PDF]

, 2010
Medulloblastoma is a malignant embryonal tumour of the cerebellum which most commonly affects children. A subset of tumours is thought to arise from cerebellar granule cell precursors (GCPs) that fail to undergo normal neuronal development, following ...
Menghi, F.
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Identification of the RHD novel allele c. 801+2T>G and study of its effect on RhD phenotype in vitro

Zhongguo shuxue zazhi
[Objective] To further identify the RhD phenotype and RHD genotype in the individual who have RhD negative phenotype in the primary screening, and to analyze the effect of c. 801+2T>G mutation on RhD phenotype by minigene splicing assay.
JIA Shuangshuang, WEN Jizhi, WEI Ling, ZHANG Runqing, LUO Guangping, JI Yanli   +5 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Antisense oligonucleotide therapy for patients with Friedreich’s ataxia carrying the c.165+5G>C splicing mutation

Molecular Therapy: Nucleic Acids
Friedreich’s ataxia (FRDA) is a multisystem, progressive disease. 96% of patients carry biallelic GAA triplet expansion mutations in intron 1 of the frataxin gene (FXN).
Pouiré Yameogo, Selina Aguilar, Thazha P. Prakash, Frank Rigo, David R. Lynch, Jill S. Napierala, Marek Napierala   +6 more
doaj   +1 more source

Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation

, 2016
•Whether the IVS2-2A>G mutation in the SLC26A5 gene causes deafness is unproven.•IVS2-2A>G mutant mice displayed normal hearing sensitivity.•The IVS2-2A>G mutation caused alternative splicing and loss of 11 nucleotides in mRNA.•The splicing abnormality ...
Tang, Jie, Zhang, Aizhen, Sun, Xiaoyang, Chang, Aoshuang, Zuo, Jian, Ouyang, Xiaomei, Yan, Denise, Fang, Jie, Liu, Xuezhong, Gao, Jiangang, Liu, Ziyi, Zhang, Jian, Tian, Yong, Men, Yuqin   +13 more
core   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

Scientific Reports, 2018
Alternate splicing is a critical regulator of gene expression in eukaryotes, however genetic mutations can cause erroneous splicing and disease. Most recorded splicing disorders are caused by mutations of splice donor/acceptor sites, however intronic ...
Jacqueline M. Ogier, Benedicta D. Arhatari, Marina R. Carpinelli, Bradley K. McColl, Michael A. Wilson, Rachel A. Burt   +5 more
doaj   +1 more source

Unraveling the Molecular Mechanism of Splicing through Molecular Dynamics Simulation [PDF]

, 2021
The genes architecture as made of intron and exons is now a widely accepted fact and a well-established hypothesis. Indeed, the exons regions of a DNA molecule that code for proteins are not a continuous unitary sequence, but silent intervening segments (
Saltalamacchia, Andrea
core