Results 161 to 170 of about 715,579 (403)

A Microsphere-Based Assay for Multiplexed Single Nucleotide Polymorphism Analysis Using Single Base Chain Extension [PDF]

, 2000
Jingwen Chen, Marie A. Iannone, May-Sung Li, J. David Taylor, Philip Rivers, Anita J. Nelsen, Kimberly Slentz‐Kesler, Allen D. Roses, Michael P. Weiner   +8 more
openalex   +1 more source

Hepatic CBP/p300 Orchestrate Amino Acid‐Driven Gluconeogenesis through Histone Crotonylation

Advanced Science, EarlyView.
Hepatic CBP/p300 control amino acid‐driven gluconeogenesis by modulating histone crotonylation. This study identifies 2‐aminoadipate (2‐AAA) as a key metabolite that enhances crotonylation and activates amino acid and gluconeogenic gene expression.
Chunxiang Sheng, Tianjiao Li, Hong Lin, Xiaoqin Ma, Feiye Zhou, Mingzhu Li, Yiru Wang, Shushu Wang, Jialin Tan, Junmin Chen, Yulin Yang, Jianmin Liu, Yufang Bi, Jieli Lu, Xiao Wang, Libin Zhou   +15 more
wiley   +1 more source

Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay [PDF]

, 2000
Sascha Sauer
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

Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy

Biological Research, 2009
We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients.
RODRIGO GONZÁLEZ, ARES TIRADO, LUIS A ROJAS, FRANCISCO J OSSANDÓN, MIRIAM ALVO, CARLOS WOLFF, DANIELA SEELENFREUND, PILAR DURRUTY, SERGIO LOBOS   +8 more
doaj  

Multiplexed single nucleotide polymorphism genotyping by oligonucleotide ligation and flow cytometry [PDF]

, 2000
Marie A. Iannone, J. David Taylor, Jingwen Chen, May-Sung Li, Philip Rivers, Kimberly Slentz‐Kesler, Michael P. Weiner   +6 more
openalex   +1 more source

DIYABC v2.0: a software to make approximate Bayesian computation inferences about population history using single nucleotide polymorphism, DNA sequence and microsatellite data

Bioinform., 2014
J. Cornuet, P. Pudlo, Julien Veyssier, Alexandre Dehne-Garcia, M. Gautier, R. Leblois, J. Marin, A. Estoup   +7 more
semanticscholar   +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

Analyses of GWAS and Sub‐Threshold Loci Lead to the Discovery of Dendrite Development and Morphology Dysfunction Underlying Schizophrenia Genetic Risk

Advanced Science, EarlyView.
A cost‐effective strategy is developed analyzing sub‐threshold GWAS loci (5 × 10−8 < P ≤ 10−6), identifying 180 risk loci and 304 high‐confidence genes through combined GWAS/subGWAS analysis. This approach reveals dendrite development and morphogenesis (DDM) as a novel SCZ pathway.
Rui Chen, Benjamin Siciliano, Quan Wang, Chongchong Xu, Qiang Wei, Hai Yang, James S Sutcliffe, Yi Jiang, Ying Ji, Chunyu Liu, Feixiong Cheng, Edwin H Cook, Nancy J Cox, Xue Zhong, Zhexing Wen, Bingshan Li   +15 more
wiley   +1 more source

Influence of rs1080985 single nucleotide polymorphism of the CYP2D6 gene on response to treatment with donepezil in patients with Alzheimer’s disease

Neuropsychiatric Disease and Treatment, 2013
Aleksandra Klimkowicz-Mrowiec,1 Pawel Wolkow,2 Malgorzata Sado,3 Anna Dziubek,3 Joanna Pera,1 Tomasz Dziedzic,1 Andrzej Szczudlik,1 Agnieszka Slowik1 1Department of Neurology, Jagiellonian University, School of Medicine, Botaniczna, 2Department of ...
Klimkowicz-Mrowiec A, Wolkow P, Sado M, Dziubek A, Pera J, Dziedzic T, Szczudlik A, Slowik A   +7 more
doaj