Results 71 to 80 of about 49,802 (297)

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

Journal of Translational Medicine, 2023
Background ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined.
Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers   +8 more
doaj   +1 more source

Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease [PDF]

, 2018
Genetic variation in cis-regulatory elements related to splicing machinery and splicing regulatory elements (SREs) results in exon skipping and undesired protein products.
Alzheimer’s Disease Neuroimaging Initiative, Han, Seonggyun, Horgousluoglu, Emrin, Kim, Dokyoon, Kim, Dongwook, Lee, Younghee, Nho, Kwangsik, Risacher, Shannon L., Saykin, Andrew J.   +8 more
core  

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy [PDF]

, 2018
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD gene.
Amoasii, L, Bassel-Duby, R, Caballero, D, Harron, R, Hildyard, J C W, Li, H, Massey, C A, Mireault, A, Olson, E N, Piercy, R J, Sanchez-Ortiz, E, Shelton, J M, Stathopoulou, T-R   +12 more
core   +2 more sources

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Comprehensive analysis of mutations in NSCLC patients in a real-world setting

Therapeutic Advances in Medical Oncology, 2022
Background: Aberrant mesenchymal–epithelial transition/hepatocyte growth factor (MET/HGF) regulation presented in a wide variety of human cancers. MET exon 14 skipping, copy number gain (CNG), and kinase domain mutations/arrangements were associated with
Xinghao Ai, Yongfeng Yu, Jun Zhao, Wang Sheng, Jing Bai, Zaiwen Fan, Xuemei Liu, Wenxiang Ji, Rongrong Chen, Shun Lu   +9 more
doaj   +1 more source

Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V, Betts, C A, Gait, M J, Godfrey, C, Hammond, S M, Healicon, R, Manzano, R, McClorey, G, Merritt, T M, Muses, S, O'Donovan, L, Tyler, D, Wells, D J, Wells, K E, Westering, T, Wood, M J   +15 more
core   +2 more sources

Dysferlin Exon 32 Skipping in Patient Cells [PDF]

, 2018
Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.
Barthelemy, Florian, Courrier, Sebastien, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc   +4 more
openaire   +4 more sources

Silencing Myostatin Using In Vivo Self‐Assembled siRNA Protects Against Cancer‐ and Dexamethasone‐Induced Muscle Atrophy

Advanced Healthcare Materials, EarlyView.
This study reports an in vivo self‐assembled siRNA strategy that enables the liver to generate small extracellular vesicles (sEVs) tagged with a muscle‐targeting peptide (MSP) and naturally loaded with myostatin (MSTN)‐siRNA. These MSP‐tagged sEVs are systemically delivered to skeletal muscle, efficiently silence MSTN, promote muscle hypertrophy, and ...
Xin Yin, Azhar Anwar, Jiehao Chen, Qinghao Sun, Likun Zhou, Jie Tang, Jingwei Guo, Linbo Yan, Yongci Chen, Feng Yin, Chen‐Yu Zhang, Zigang Li, Jizheng Ma, Liyuan Sheng, Xi Chen   +14 more
wiley   +1 more source

MUTE‐Seq: An Ultrasensitive Method for Detecting Low‐Frequency Mutations in cfDNA With Engineered Advanced‐Fidelity FnCas9

Advanced Materials, EarlyView.
An advanced‐fidelity CRISPR nuclease, FnCas9‐AF2, is rationally engineered to discriminate single‐base mismatches with unprecedented level precision. Integrated into the MUTE‐Seq workflow, FnCas9‐AF2 depletes wild‐type cell‐free DNA, thereby exposing rare tumor‐derived mutant DNA (a molecular “needle in a haystack”).
Sunghyeok Ye, Jin‐Soo Kim, Myungshin Kim, Ki‐Yeon Kim, Yoon‐Ho Won, Taegun Park, Sungjae An, Haerin Jeong, Hee‐Joon Chung, In Seon Lee, Myoung‐Hee Kang, Chan Young Kang, Mi Young Kim, Jae Ho Chung, Jeong‐An Gim, Woochang Hwang, Yonggoo Kim, Song Cheol Kim, Sungho Lee, Junho K Hur, Junseok W Hur   +20 more
wiley   +1 more source

A Prion‐Like Domain in EBV EBNA1 Promotes Phase Separation and Enables SRRM1 Splicing

Advanced Science, EarlyView.
This study discoveries that EBV EBNA1 behaves as a prion‐like protein, verified using cell‐based assays and the Saccharomyces cerevisiae Sup35p prion identification system. The prion‐like domain of EBNA1 drives liquid–liquid phase separation. EBNA1 interacts with the splicing factor SRSF1 to regulate the expression of the SRRM1 splicing isoforms ...
Xiaoyue Zhang, Zhengshuo Li, Run Zheng, Xiang Zheng, Jia Wang, Can Liu, Yangge Wu, Yuqing Wen, Chunlin Ou, Songqing Fan, Chenxiao Xu, Junrui Tian, Qun Yan, Hao Nan, Xiaodong Xu, Hui Wang, Qiu Peng, Jian Ma   +17 more
wiley   +1 more source