Results 71 to 80 of about 60,805 (199)

Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very–Long‐Chain Acyl‐CoA Dehydrogenase Deficiency Patient

Molecular Genetics & Genomic Medicine
Background Very–long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is a rare disorder of long‐chain mitochondrial fatty acid oxidation (FAO) caused by biallelic mutations in the acyl‐CoA dehydrogenase very–long‐chain (ACADVL) gene with autosomal ...
Qin Wang, Jingxin Yang, Yong Xu, Xingping Li, Nan Jiang, Jiansheng Xie   +5 more
doaj   +1 more source

An Artificially Selected Cytokinin‐Pathway Transcription Factor Balances Soybean Yield and Pathogen Resistance

Advanced Science, EarlyView.
A cytokinin pathway transcription factor, RR2b, was artificially selected during soybean domestication and improvement based on its differential transcriptional activity, which correlates with ATT repeat polymorphisms in its promoter. RR2b balances yield and defense by fine‐tuning its expression level and offers a promising target for decoupling trade ...
Qun Ma, Yaqing Chen, Yiwen Gao, Xueting Hu, Qun Yang, Yucheng Liu, Peiyong Xin, Jijun Yan, Jinfang Chu, Lei Li, Zhixi Tian, Bo Ren   +11 more
wiley   +1 more source

Identification of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family

Molecular Genetics & Genomic Medicine
Background Hypertrophic cardiomyopathy (HCM) is a common hereditary cardiac disorder characterized by left ventricular hypertrophy, outflow tract obstruction, arrhythmias, and increased risk of sudden cardiac death. Methods Clinical phenotypes and family
Songlin Zhang, Xiaohua Tang, Leixiang Yang, Yang Wang, Yong Cui, Xiaopan Chen   +5 more
doaj   +1 more source

CA9‐Targeted PET Imaging for Noninvasive Discrimination of Clear Cell Renal Cell Carcinoma and Associated Tumor Biological Features

Advanced Science, EarlyView.
CA9‐targeted PET imaging could be a noninvasive approach to characterize clear cell renal cell carcinoma and associated tumor biology. PET uptake correlates with tumor CA9 expression and is linked to angiogenic activity, immune remodeling, and metabolic reprogramming.
Kailei Chen, Sixuan Cheng, Jian Shi, Ruijie Liu, Yilong Wu, Xin Zheng, Xinlun Song, Yunxuan Zhang, Lei Liu, Zhihao Wei, Qi Wang, Xinwei Li, Zirui Dong, Yuenan Liu, Hongmei Yang, Xiaoli Lan, Chunxia Qin, Dawei Jiang, Keshan Wang, Xiaoping Zhang   +19 more
wiley   +1 more source

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

Innovative strategies for annotating the “relationSNP” between variants and molecular phenotypes

BioData Mining, 2019
Characterizing how variation at the level of individual nucleotides contributes to traits and diseases has been an area of growing interest since the completion of sequencing the first human genome.
Jason E. Miller, Yogasudha Veturi, Marylyn D. Ritchie   +2 more
doaj   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

CeL-ID: cell line identification using RNA-seq data

BMC Genomics, 2019
Background Cell lines form the cornerstone of cell-based experimentation studies into understanding the underlying mechanisms of normal and disease biology including cancer.
Tabrez A. Mohammad, Yun S. Tsai, Safwa Ameer, Hung-I Harry Chen, Yu-Chiao Chiu, Yidong Chen   +5 more
doaj   +1 more source

Herbicide Metabolic Resistance in Poaceae Plants via the GA‐GID1/DELLA‐DOF2‐P450s Module

Advanced Science, EarlyView.
Plant hormone signaling modulates herbicide resistance in Echinochloa crus‐galli. The GA–DELLA–DOF2 cascade directly activates P450 detoxification genes in two Poaceae species, uncovering a core mechanism of metabolic herbicide resistance. ABSTRACT Barnyard grass (Echinochloa crus‐galli) is one of the world's most important weeds, and the evolution of ...
Junzhi Wang, Jiale Qi, Lin Wei, Qin Yu, Zhongyuan Liu, Lianyang Bai, Lang Pan   +6 more
wiley   +1 more source

A synonymous SLC2A1 variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patterns

Neurobiology of Disease
The glucose transporter type-1 deficiency syndrome (GLUT1-DS) arises from variants in the SLC2A1 gene encoding the glucose transporter type-1 (GLUT1).
Adam T. Higgins, Fiona Wang, William O. Pickrell, Ann J. Johnston, Jaya Natarajan, Khalid Hamandi, Johann Te Water Naudé, Mary Chebib, Phil E. Smith, Mark I. Rees, Seo-Kyung Chung   +10 more
doaj   +1 more source