Results 101 to 110 of about 131,722 (303)

ISS-N1 makes the first FDA-approved drug for spinal muscular atrophy

Translational Neuroscience, 2017
Spinal muscular atrophy (SMA) is one of the leading genetic diseases of children and infants. SMA is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene.
Ottesen Eric W.
doaj   +1 more source

Metabolite Profiling of the Antisense Oligonucleotide Eluforsen Using Liquid Chromatography-Mass Spectrometry

Molecular Therapy: Nucleic Acids, 2019
Eluforsen (previously known as QR-010) is a 33-mer 2′-O-methyl modified phosphorothioate antisense oligonucleotide targeting the F508del mutation in the gene encoding CFTR protein of cystic fibrosis patients.
Jaeah Kim, Babak Basiri, Chopie Hassan, Carine Punt, Erik van der Hage, Cathaline den Besten, Michael G. Bartlett   +6 more
doaj   +1 more source

Hepatoma‐Derived Growth Factor Coordinates STAT3 Pathway and Exosome‐Mediated Intrahepatic Crosstalk to Control Hepatic Steatosis and MASLD

Advanced Science, EarlyView.
Hepatic HDGF as a key mediator in coordinating hepatic steatosis and intrahepatic crosstalk in MASLD. Activation of HDGF facilitates its interaction with both STAT3 and S6K1, driving the S6K1‐dependent STAT3 phosphorylation and subsequently enhancing hepatic lipogenesis.
Jian Wen, Dong Ding, Zengpeng Zheng, Xufeng Chen, Wenjing Li, Jiaxin Shen, Zhiwei Huang, Peng Tan, Junjie Bai, Xia Fang, Baofang Xing, Puyuan Hu, Linghao Xu, Haokai Yu, Yixi Wang, Zongzhe Jiang, Yang Long, Tiejun Zhou, Mingxin Ye, Yu Jiang, Aoyuan Cui, Hong Li, Qiurong Ding, Yong Xu, Yu Li, Weitong Su, Feng Shen, Chenlin Gao, Wenguang Fu   +28 more
wiley   +1 more source

A new transcript in the TCRB locus unveils the human ortholog of the mouse pre-Dß1 promoter [PDF]

, 2017
Introduction: While most transcripts arising from the human T Cell Receptor locus reflect fully rearranged genes, several germline transcripts have been identified. We describe a new germline transcript arising from the human TCRB locus.
Abarrategui, Berman, Bustin, Calman, Cobb, Davodeau, de Villartay, Dik, Dombret, Doty, Duber, Engel, Gottschalk, Joachims, Khor, Lennon, Lurquin, Mathieu, Matz, Osipovich, Padovan, Pelicci, Ramiro, Schlissel, Schweingruber, Senapathy, Sikes, Sikes, Spicuglia, Szczepanski, Taghon, Thomas, Whitehurst, Yancopoulos   +33 more
core   +2 more sources

Smart Nanotechnologies for Multimodal Neuromodulation and Brain Interfacing

Advanced Science, EarlyView.
Recent advances in smart nanotechnologies are expanding the toolbox for brain interfacing, from wireless neuromodulation and high‐resolution sensing to targeted delivery within the central nervous system. By combining responsive nanomaterials with bioinspired design, these platforms enable multimodal interactions with neurons and glia, while also ...
Tommaso Curiale, Marie Celine Lefevre, Alessio Carmignani, Maria Cristina Ceccarelli, Matteo Battaglini, Attilio Marino, Gianni Ciofani   +6 more
wiley   +1 more source

The HLA-E Gene encodes two differentially regulated Transcripts and a Cell Surface Protein [PDF]

, 1992
An HLA-E-specific oligonucleotide probe was used to study the expressioonf HLA-E. This probed etects two HLA-E transcripts, 1.8 and 2.7 kb in size, which are present in varying ratios in allt issues and cell lines investigated.
Honka, Thomas, Johnson, Judith P., Person, Susanne, Ulbrecht, Matthias, Weiss, Elisabeth H.   +4 more
core   +1 more source

A Novel CsYABBY3‐CsAS1 Feedback Loop Coordinates Trichome Differentiation and Cannabinoid Biosynthesis in Cannabis sativa L.

Advanced Science, EarlyView.
A novel transcriptional module involving CsYABBY3 and CsAS1 is identified to regulate cannabinoid biosynthesis and trichome development. These factors mutually activate each other and form a protein complex via a conserved residue, acting synergistically to amplify metabolic flux through a coordinate feed‐forward mechanism.
Xuewen Zhu, Yaolei Mi, Xue Cao, Weiqiang Chen, Pucheng Fan, Jing Wang, Yiming Zhang, Wei Yang, Huihua Wan, Shanshan Chen, Xiangxiao Meng, Jun Li, Shuo Shen, Mingkun Huang, Xiaoyu Zhang, Ming Luo, Shilin Chen, Zhichao Xu, Wei Sun   +18 more
wiley   +1 more source

Inhibition of EGF Uptake by Nephrotoxic Antisense Drugs In Vitro and Implications for Preclinical Safety Profiling

Molecular Therapy: Nucleic Acids, 2017
Antisense oligonucleotide (AON) therapeutics offer new avenues to pursue clinically relevant targets inaccessible with other technologies. Advances in improving AON affinity and stability by incorporation of high affinity nucleotides, such as locked ...
Annie Moisan, Marcel Gubler, Jitao David Zhang, Yann Tessier, Kamille Dumong Erichsen, Sabine Sewing, Régine Gérard, Blandine Avignon, Sylwia Huber, Fethallah Benmansour, Xing Chen, Roberto Villaseñor, Annamaria Braendli-Baiocco, Matthias Festag, Andreas Maunz, Thomas Singer, Franz Schuler, Adrian B. Roth   +17 more
doaj   +1 more source

Clinical impact of splicing in neurodevelopmental disorders. [PDF]

, 2020
Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Farh, Kyle Kai-How, Sanders, Stephan J, Schwartz, Grace B   +2 more
core   +1 more source

Evidence for dynamic and multiple roles for huntingtin in Ciona intestinalis [PDF]

, 2013
Although mutations in the huntingtin gene (HTT) due to poly-Q expansion cause neuropathology in humans (Huntington's disease; HD), the normal function(s) of the gene and its protein (HTT) remain obscure.
Brown, Euan R., Idris, Mohammed M, Thorndyke, Michael C   +2 more
core   +1 more source