Results 161 to 170 of about 724,526 (380)

SNPing Away at Complex Diseases: Analysis of Single-Nucleotide Polymorphisms around APOE in Alzheimer Disease [PDF]

, 2000
Eden R. Martin, Eric Lai, John R. Gilbert, Allison R. Rogala, Afsoon Afshari, John Riley, Kelly Finch, Jeffery Stevens, Ken Livak, Brandon D. Slotterbeck, Susan H. Slifer, Liling Warren, P. Michael Conneally, Donald E. Schmechel, Ian J. Purvis, Margaret A. Pericak‐Vance, Allen D. Roses, Jeffery M. Vance   +17 more
openalex   +1 more source

Homocysteine Exacerbates Pulmonary Fibrosis via Orchestrating Syntaxin 17 Homocysteinylation of Alveolar Type II Cells

Advanced Science, EarlyView.
The study identifies elevated homocysteine (Hcy) levels in idiopathic pulmonary fibrosis patients' samples, with alveolar type 2 cells as the primary site of Hcy metabolism. Methionine synthase reductase downregulation in these cells exacerbates fibrosis, while folate administration reduces Hcy levels and alleviates fibrosis.
Jiefeng Huang, Ke Fang, Wuyan Lu, Rongrong Wu, Yuanyuan Chen, Linxiao Li, Zihao Hu, Zixin Cai, Yu Jiang, Xinli Fan, Jinyi Deng, Guangpeng Liu, Zhuang Luo, Lei Cui, Shuaijun Li   +14 more
wiley   +1 more source

Single nucleotide polymorphisms as tools in human genetics [PDF]

, 2000
Ian C. Gray, David A. Campbell, Nigel K. Spurr   +2 more
openalex   +1 more source

Benchmarking Ploidy Estimation Methods for Bulk and Single‐Cell Whole Genome Sequencing

Advanced Science, EarlyView.
It comprehensively benchmarks computational tools for ploidy estimation from bulk and single‐cell whole‐genome sequencing data. The results highlight the strengths and limitations of each method under different conditions and identify PURPLE and SeCNV show top performance in bulk and single‐cell settings, respectively.
Yawei Song, Zilv Mei, Qijie Zheng, Qingqing Yuan, Yu Liang, Jiaqi Gao, Lang Zhou, Shuheng Wu, Wei Wu   +8 more
wiley   +1 more source

Determination of single-nucleotide polymorphism in the proximal promoter region of apolipoprotein M gene in coronary artery diseases

International Journal of General Medicine, 2009
Lu Zheng1, Guanghua Luo1, Xiaoying Zhang1, Jun Zhang1, Jiang Zhu1, Jiang Wei1, Qinfeng Mu1, Lujun Chen1, Peter Nilsson-Ehle2, Ning Xu21Comprehensive Laboratory, The Third Affiliated Hospital, Suzhou University, Changzhou China; 2Division of Clinical ...
Lu Zheng, Guanghua Luo, Xiaoying Zhang, et al   +3 more
doaj  

A single nucleotide polymorphism in exon 1 of cytotoxic T-lymphocyte-associated-4 (CTLA-4) is not associated with rheumatoid arthritis [PDF]

, 2000
Anne Barton, Anne Myerscough, S. John, Miguel Á. González‐Gay, William Ollier, Jane Worthington   +5 more
openalex   +1 more source

A time-dependent Poisson random field model for polymorphism within and between two related biological species

, 2010
We derive a Poisson random field model for population site polymorphisms differences within and between two species that share a relatively recent common ancestor. The model can be either equilibrium or time inhomogeneous.
Amei, Amei, Sawyer, Stanley
core   +1 more source

IPGCA: A Comprehensive Single Cell Atlas of 1 074 127 Porcine Intestinal Cells Revealing Cellular Dynamics, Genetic Regulation, and Cross‐Species Conservation

Advanced Science, EarlyView.
A high resolution integrated cell atlas of the pig intestine provides insights into the genetic mechanisms of complex traits (Created in BioRender. Yu, P. (2025) https://BioRender.com/o14c563) Abstract The porcine intestinal tract is vital for nutrient absorption, immune regulation, and various physiological processes.
Pengfei Yu, Qinqin Xie, Xiaodian Cai, Zhanming Zhong, Ran Wei, He Han, Shuang Liu, Zhenyang Zhang, Lingyao Xu, Zitao Chen, Zhe Zhang, Qishan Wang, Yuchun Pan, Zhen Wang, Zhe Zhang   +14 more
wiley   +1 more source

Allelic Discrimination for Single Nucleotide Polymorphisms in the Human Scavenger Receptor Class B Type 1 Gene Locus Using Fluorescent Probes [PDF]

, 2000
D Osgood-McWeeney, Jennifer R. Galluzzi, José M. Ordovás   +2 more
openalex   +1 more source

Allele‐Specific Regulation of PAXIP1‐AS1 by SMC3/CEBPB at rs112651172 in Psychiatric Disorders Drives Synaptic and Behavioral Dysfunctions in Mice

Advanced Science, EarlyView.
This study identifies a functional noncoding variant, rs112651172 (C/G), that drives allele‐specific expression of PAXIP1‐AS1 in monozygotic twin pairs discordant for schizophrenia and bipolar disorder. The risk G allele enhances CEBPB binding, leading to lncRNA upregulation, CNTNAP3 derepression, and synaptic and behavioral deficits in mice.
Chaoying Ni, He Chen, Qiaqi Chen, Yangyang Liao, Yunqian Wang, Linyan Ye, Xiaohui Wu, Hongyu Ni, Tingyun Jiang, Shufen Li, Qiong Yang, Hong Xue, Zhongju Wang, Feng Yi, Cunyou Zhao   +14 more
wiley   +1 more source