Results 81 to 90 of about 1,070 (210)

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

A novel A–>G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency.

Journal of Lipid Research, 1996
We have identified the underlying molecular defect in a patient with hepatic lipase (HL) deficiency presenting with hypertriglyceridemia and premature cardiovascular disease.
K Brand, K A Dugi, J D Brunzell, D N Nevin, S Santamarina-Fojo   +4 more
doaj   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Novel splice site mutation in GATA3 in a patient with HDR syndrome.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2017
This is an open access article under the CC BY-NC-ND license.
Matsuo, Kumihiro, Kobayashi, Arisa, Takahashi, Yusuke, Maruyama, Satoko, Niitsu, Yoshihiro, Katsuta, Hidenori, Furuya, Akiko, Suzuki, Shigeru, Kawamura, Mitsunobu, Azuma, Hiroshi   +9 more
openaire   +2 more sources

RNA Helicase DDX21 Controls CD4+ T Cell Proliferation and Promotes Inflammatory Bowel Disease via Translational Control

Advanced Science, EarlyView.
ABSTRACT Inflammatory bowel disease (IBD) is characterized by dysregulated T cell responses. RNA helicases, including DExD‐box helicase 21 (DDX21), are pivotal in RNA metabolism, but their role in T cell‐mediated pathology during IBD remains unclear. Here, we demonstrate that DDX21 expression in CD4+ T cells correlates with cell cycle and translation ...
Yujuan Zhang, Chen Kan, Xinhui Yang, Yajuan Hao, Xuemin Cai, Mei Yang, Qianqian Zhang, Zhengting Wang, Ning Jiang, Lei Wang, Hua‐Bing Li, Jing Zhou   +11 more
wiley   +1 more source

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Scientific Reports, 2018
Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in  A).
Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata   +9 more
doaj   +1 more source

Tropomyosin 1 Promotes Platelet Adhesion and Clot Contraction Separate from Its Roles in Developmental Hematopoiesis

Advanced Science, EarlyView.
ABSTRACT Genome‐wide association studies (GWAS) link the Tropomyosin 1 (Tpm1) locus to quantitative blood trait variation, but related mechanisms are unclear. Tpm1 encodes an actin‐binding protein that regulates actin filament diversity, cell adhesion, signaling, and actomyosin contractility.
Po‐Lun Kung, Victor Tsao, Alina D Peshkova, Oscar A. Marcos‐Contreras, Kim Ha, Brian M Dulmovits, Nkemdilim Okoli, Anvi Sinha, Gennadiy Fonar, Rong Qiu, Rolf D Bates, Janelle Yeboah, Carson Shalaby, Tyler Truex, Soomin Jeong, Edna C Hardeman, Peter W Gunning, Vladimir R Muzykantov, Jacob W Myerson, Christopher S Thom   +19 more
wiley   +1 more source

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Molecular Therapy: Nucleic Acids, 2016
Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The hearing loss can be partly compensated by providing patients with hearing aids or cochlear implants, but the loss of vision is currently untreatable.
Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk   +15 more
doaj   +1 more source

A Toolkit for Targeted Neuromodulation of Striatal Direct Pathway Neurons Rescues Parkinsonian Motor Deficits in Mice

Advanced Science, EarlyView.
An adeno‐associated virus (AAV) toolkit enables selective anatomical and functional targeting of striatal D1‐MSNs through retrograde transduction. Enhanced capsids and engineered enhancers drive robust transgene expression across murine and primate models.
Zexuan Hong, Yujing Zhang, Junjiao Zhang, Hanhe Liu, Qiwei Liu, Yanglei Li, Lixin Yang, Lixia Li, Zhongjie Liu, Zhen Yuan, Zhonghua Lu, Yefei Chen, Yuantao Li, Yuwu Jiang, Taian Liu   +14 more
wiley   +1 more source

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v2; ref status: indexed, http://f1000r.es/54y]

F1000Research, 2015
The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding
Natasha G. Caminsky, Eliseos J. Mucaki, Peter K. Rogan   +2 more
doaj   +1 more source