Results 51 to 60 of about 418,363 (219)

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

Nonsense-mediated translational repression involves exon junction complex downstream of premature translation termination codon [PDF]

, 2010
Human transforming growth factor-β receptor type 2 (TGFβR2) mRNA harboring a premature translation termination codon (PTC) generated by frameshift mutation is targeted for nonsense-mediated translational repression (NMTR), rather than nonsense-mediated ...
Choe, Junho, Cho, Hana, Oh, Nara, Lee, Hyung Chul, Kim, Yoon Ki   +4 more
core   +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

Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion

Haematologica, 2008
Background In mammalian cells a regulatory mechanism, known as nonsense-mediated mRNA decay, degrades mRNA harboring premature termination codons. This mechanism is intron-dependent and functions as a quality control mechanism to eliminate abnormal ...
Isabella Garagiola, Carla Valsecchi, Silvia Lavoretano, Hale Oren, Martina Bohm, Flora Peyvandi   +5 more
doaj   +1 more source

Inhibition of IGFBP4 in Granulosa Cells Improves Reproductive Performance and Maintains Fertility With Age via YAP Signaling

Advanced Science, EarlyView.
IGFBP4 is upregulated in granulosa cells of aged ovaries across monkeys, mice, and humans. It inhibits YAP signaling, thereby suppressing cell proliferation and contributing to follicular dysfunction. Deletion of Igfbp4 in granulosa cells enhances ovulatory output, improves hormone profiles, and reproductive performance in aged female mice, suggesting ...
Qianhui Hu, Ajun Geng, Ziyuan Li, Fanghao Guo, Jingqiang Wang, Xinyi Chen, Meiling Zhang, Yi Arial Zeng, Wen Li   +8 more
wiley   +1 more source

Proving termination using abstract interpretation [PDF]

, 2010
PhDOne way to develop more robust software is to use formal program verification. Formal program verification requires the construction of a formal mathematical proof of the programs correctness. In the past ten years or so there has been much progress
Chawdhary, Aziem A.
core   +4 more sources

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the gene

SAGE Open Medical Case Reports, 2022
Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels.
Xing-Chuan Li, Song Wang, Jia-Rui Zhu, Yu-Shan Yin, Ni Zhang   +4 more
doaj   +1 more source

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia

Frontiers in Endocrinology, 2023
IntroductionAsthenoteratozoospermia is one of the most common causes of male infertility. Several genes have been identified as genetic causative factors, but there is a considerable genetic heterogeneity underlying asthenoteratozoospermia. In this study,
Fei Huang, Jun Zeng, Dan Liu, Jing Zhang, Boluo Liang, Jingping Gao, Rong Yan, Xiaobo Shi, Jianlin Chen, Wanjuan Song, Hua-Lin Huang   +10 more
doaj   +1 more source

Premature Termination Codon Mutations in the Type VII Collagen Gene in Recessive Dystrophic Epidermolysis Bullosa Result in Nonsense-Mediated mRNA Decay and Absence of Functional Protein [PDF]

, 1997
The severe mutilating Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa (HS-RDEB) is characterized by the absence of anchoring fibrils that consist of type VII collagen.
Christiano, Angela M., Amano, Satoshi, Uitto, Jouni, Burgeson, Robert E., Eichenfield, Lawrence F.   +4 more
core   +1 more source

SiDT1 Defines Plant Architecture Reminiscent of Green Revolution in Foxtail Millet

Advanced Science, EarlyView.
SiDT1 encodes a GA3‐oxidase that creates a semi‐dwarf, lodging‐resistant architecture reminiscent of the rice Green Revolution. The resulting ideotype performs well under dense planting and provides a valuable genetic resource for high‐yield, mechanized foxtail millet production. ABSTRACT Foxtail millet (Setaria italica) is a drought‐tolerant C4 cereal
Jianzhen Lv, Jinjin Cheng, Zhen Hu, Qian Lan, Yanjun Yang, Chengcheng Pei, Junhao Luo, Zhuang Li, Peiyong Xin, Jijun Yan, Jinfang Chu, Qian Qian, Zhaosheng Kong, Liang Jiang   +13 more
wiley   +1 more source