Results 211 to 220 of about 303,582 (318)

Hemoglobin Polymorphism [PDF]

Science, 1971
openaire   +2 more sources

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Substrate-Specific Inactivation of Human AAG by Tumor-Associated Single Nucleotide Polymorphic Variants. [PDF]

Int J Mol Sci
Kladova OA, Tyugashev TE, Bakman AS, Kuznetsova AA.   +3 more
europepmc   +1 more source

Two‐Dimensional Quaternary Alloys of (RuMoVNb)Se2 for Superior Hydrogen Evolution Reaction Catalysis

Advanced Science, EarlyView.
Composition‐tuned (RuMoVNb)Se2 quaternary alloy nanosheets are synthesized via colloidal reactions. Incorporation of Ru into (MoVNb)Se2 ternary alloys results in more metallic electronic structures and significantly enhances their electrocatalytic activity for the hydrogen evolution reaction (HER) under alkaline, acidic, and neutral conditions.
Junaid Ihsan, Ju Yeon Kim, Irtiqa Mishal, Jun Hyeok Choi, Jeong Eun An, Youn Jun Choi, Doyeon Kim, In Hye Kwak, Gianvito Vilé, Ik Seon Kwon, Hong Seok Kang, Jeunghee Park   +11 more
wiley   +1 more source

Short QT Syndrome Masquerading as Lone Atrial Fibrillation: Hidden in Plain Sight. [PDF]

JACC Case Rep
Yoo TK, Trujillo-Arvizu L, Kaufman C, Pendela VS, Rodriguez S, Hu T, Tugal D, Helm RH, Monahan KM.   +8 more
europepmc   +1 more source

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography

Advanced Science, EarlyView.
Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian, Yalan Wan, Chen Chen, Xiaoyu Zheng, Wenjing Du, Junhan Yang, Zhihao Quan, Biyu Yang, Jiaxi Yu, Jie Zheng, Zhaoxia Wang, Jianwen Deng, Qiang Guo   +12 more
wiley   +1 more source

A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA. [PDF]

Nat Commun
Fu L, Chen J, Lian D, Du S, Wu D, Yang C, Wang Z, Ma H, Li Z, Lake NJ, Yang X, Shi Y, Zhang G, Ma K, Mao Y.   +14 more
europepmc   +1 more source

Protein Polymorphism [PDF]

Nature New Biology, 1972
openaire   +2 more sources

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

MolCryst-MLIPs: A Machine-Learned Interatomic Potentials Database for Molecular Crystals. [PDF]

J Chem Theory Comput
Lahouari A, Ai S, Han J, Hoffstadt J, Höllmer P, Infante C, Jain P, Kadam S, Martirossyan MM, McCune A, Newton H, Paul SJ, Peña Ccoa WJ, Raghoonanan J, Sahu S, Tan O, Vergara A, Rogal J, Tuckerman ME.   +18 more
europepmc   +1 more source