Results 51 to 60 of about 730,667 (367)

Functional single nucleotide polymorphism-based association studies

Human Genomics, 2006
Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two main types of designs.
Carlton Victoria EH, Ireland James S, Useche Francisco, Faham Malek   +3 more
doaj   +1 more source

A Novel Single Nucleotide Polymorphism in Exon 4 of Insulin-Like Growth Factor-1 Associated with Production Traits in Bali Cattle [PDF]

, 2012
Insulin-like growth factor-1 (IGF-1) is one of the gene candidates that can be used in selection strategy by using DNA markers (marker assisted selection).
Arman, C. (C), Gurnadi, E. (E), Maskur, M. (Maskur), Muladno, M. (Muladno), Sumantri, C. (C)   +4 more
core  

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Circulation Research, 2014
Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis. Objective: To determine the contribution of de novo copy number variants (CNVs) in the pathogenesis of sporadic CHD.
J. Glessner, A. Bick, K. Ito, Jason G. Homsy, Laura Rodríguez-Murillo, M. Fromer, Erica Mazaika, B. Vardarajan, Michael J. Italia, Jeremy Leipzig, S. DePalma, R. Golhar, Stephan J Sanders, B. Yamrom, M. Ronemus, I. Iossifov, A. Willsey, M. State, J. Kaltman, P. White, Yufeng Shen, D. Warburton, M. Brueckner, C. Seidman, E. Goldmuntz, B. Gelb, R. Lifton, J. Seidman, H. Hakonarson, W. Chung   +29 more
semanticscholar   +1 more source

An intracellular transporter mitigates the CO2‐induced decline in iron content in Arabidopsis shoots

FEBS Letters, EarlyView.
This study identifies a gene encoding a transmembrane protein, MIC, which contributes to the reduction of shoot Fe content observed in plants under elevated CO2. MIC is a putative Fe transporter localized to the Golgi and endosomal compartments. Its post‐translational regulation in roots may represent a potential target for improving plant nutrition ...
Timothy Mozzanino, Meijie Li, Cécile Fizames, Mattia Adamo, Laurence Lejay, Christian Dubos, Matthieu Platre, Antoine Martin   +7 more
wiley   +1 more source

XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphisms in cervical cancer risk [PDF]

, 2013
Human Papillomavirus (HPV) is the main cause of cervical cancer and its precursor lesions. Transformation may be induced by several mechanisms, including oncogene activation and genome instability.
A Roszak, A Söderlund-Strand, A Udumudi, Andrea Crivaro, B Kuschel, Carlos Daniel Golijow, CL Pearce, EI Cortés-Gutiérrez, G Barbisan, Gisela Barbisan, H Romanowicz-Makowska, J Han, J Huang, J Thacker, K Ruyck De, L Jiao, Lucia Poleri, Luis Orlando Pérez, M Evander, M Kadaja, M Kadaja, M Kadaja, M Kadaja, MA Loizidou, P Magnusson, P Vineis, S Duensing, S Rafii, S Rafii, SA Miller, SS Wang, TC Wright, W Settheetham-Ishida, X He, Y Ting   +34 more
core   +2 more sources

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

FEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo, Catherine S. Palmer, Jacqueline M. Kimmey   +2 more
wiley   +1 more source

Comprehensive DNA profiling strategy for patient-derived xenograft model authentication in the J-PDX library

Scientific Reports
Patient-derived xenograft models are crucial in cancer research, although authentication methods remain limited. This study developed a comprehensive DNA profiling strategy for patient-derived xenograft quality control in the J-PDX Library by comparing ...
Tomomi Yoshino, Shigehiro Yagishita, Mami Takahashi, Chiaki Ushie, Ako Takahashi, Yasushi Yatabe, Shinji Kohsaka, Toshihide Ueno, Hanako Ono, Kouya Shiraishi, Akinobu Hamada   +10 more
doaj   +1 more source

Single nucleotide polymorphism (SNP) discovery in polyploid plants

浙江大学学报. 农业与生命科学版, 2011
Single nucleotide polymorphism (SNP) is a kind of DNA polymorphism in genome which results from the variance of single nucleotide. In diploid organisms (such as human, Arabidopsis thaliana, Oryza sativa, etc.), many SNP markers were discovered as genetic
HE Dao-hua, XING Hong-yi, ZHAO Jun-xing, ZHAO Yan-ning, QI Cheng, WANG Yan-ting   +5 more
doaj   +1 more source

Fibroblast growth factor receptor 4 single nucleotide polymorphism Gly388Arg in head and neck carcinomas [PDF]

, 2019
BACKGROUND Head and neck squamous cell carcinoma (HNSCC) is considered to be a progressive disease resulting from alterations in multiple genes regulating cell proliferation and differentiation like receptor tyrosine kinases (RTKs) and members of the ...
Bergmann, C., Gires, O., Ihrler, S., Issing, W., Streit, S., Wimmer, E.   +5 more
core   +2 more sources

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

Molecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici, Soheil Akbari, Ceyda Caliskan, Canan Celiker, Ozden Oz, Leman Binokay, Gökhan Karakulah, Serif Senturk, Esra Erdal   +8 more
wiley   +1 more source