Results 151 to 160 of about 3,711,281 (293)

Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7

Advanced Science, EarlyView.
Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim, Gaeun Lee, Saemin An, Hanseul Park, Hongwon Kim, Jisung Kim, Soi Kang, Sumin Kim, Daeyeol Kwon, Jeonghyun Park, Yerim Hwang, Seonghun Kim, Xiuwen Yuan, Jaehoon Jeong, Hamin Lee, Hui Kwon Kim, Jongpil Kim   +16 more
wiley   +1 more source

A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
This study reveals that NOTCH2NLC transcript variant 2 generates PolyGN2C‐iso2, an aggregating protein present within intranuclear inclusions of NIID patient tissues. A novel mouse model expressing PolyGN2C‐iso2 recapitulates white matter abnormalities and cognitive deficits, mechanistically linked to mitochondrial dysfunction. These findings support a
Kang Zhang, Wenhao Ma, Yi Zhou, Zhijie Wu, Pan Gao, Hongze Niu, Hongfei Tai, Tianyi Zhao, Zheyue Dong, Li Li, Yan Zhang, An Wang, Si Shen, Yueyang Li, Sifei Yu, Yan Peng, Wang Sheng, Xiaoyan Dong, Hua Pan, Kaibin Shi, Magdalena J. Koziol, Xiaobing Wu, Zaiqiang Zhang   +22 more
wiley   +1 more source

Impact of a variable number tandem repeat in the CYP2C9 promoter on warfarin sensitivity and responsiveness in Jordanians with cardiovascular disease

, 2019
Laith N AL-Eitan,1,2 Ayah Y Almasri,1 Sahar O Al-Habahbeh1 1Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan; 2Department of Biotechnology and Genetic Engineering, Jordan University of Science ...
AL-Eitan LN, Almasri AY, Al-Habahbeh SO
core  

Short tandem repeat genotyping of Pichia kudriavzevii isolates reveals long-standing clinical clade with high transmission potential. [PDF]

Med Mycol
Spruijtenburg B, Jain K, van Haren MHI, Meis JF, de Groot T, Meijer EFJ, Chowdhary A.   +6 more
europepmc   +1 more source

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

Advanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li, Ying Liu, Longsheng Xing, Xianliang Huang, Yingming Sun, Lei Yue, Yuze Zhang, Huilong Du, Bing Chen   +8 more
wiley   +1 more source

Allelle and haplotype frequencies of Y-short tandem repeat loci in Turkey

, 2003
Aim. To assess the frequency distribution of six Y-chromosomal specific short tandem repeat (STR) polymorphisms and frequencies of haplotypes in Turkish ...
Canli, MA, Cetinkaya, U, Ascioglu, F, AKYÜZ, Filiz   +3 more
core  

Short Tandem Repeat Polymorphism [PDF]

, 2020
openaire   +1 more source

Probing Electrocatalyst Design for Product Selectivity in CO2 Reduction

Advanced Science, EarlyView.
Selective CO2 electroreduction is controlled by catalyst structure, dynamic surface reconstruction, adsorbate interactions, and reaction microenvironment. This review summarizes Cu‐ and non‐Cu‐based catalysts, single‐atom and molecular systems, degradation pathways, and operando/computational strategies for steering CO2RR toward hydrocarbons ...
Suvodeep Sen, Bapan Biswas, Apinya Ngoipala, Julia Wiktor, Ujjwal Pal, Shalini Singh   +5 more
wiley   +1 more source

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort. [PDF]

Int J Mol Sci
Khojakulov Z, Palvadeau RJ, Kovancılar-Koç M, Atay I, Şahbaz I, Tekgül Ş, Şahin A, Badakal EZD, Gül-Demirkale T, Çiftçi V, Bayraktar E, Tunca C, Smolina N, Akçimen F, Başak AN.   +14 more
europepmc   +1 more source

Deep Learning Prediction of O‐Glycopeptide Tandem Mass Spectra Enhances O‐Glycoproteomics

Advanced Science, EarlyView.
DeepGPO integrates Transformer and graph neural networks with tailored training strategies, including data augmentation, loss re‐weighting, and pre‐training, to achieve high‐quality O‐glycopeptide MS/MS spectra prediction. The predicted MS/MS spectra are used to localize O‐glycosylation sites from HCD MS/MS data, enhancing O‐glycoproteomics analysis ...
Yu Zong, Yuxin Wang, Liang Qiao
wiley   +1 more source