Results 91 to 100 of about 444,739 (309)

dbSNP: a database of single nucleotide polymorphisms [PDF]

Nucleic Acids Research, 2000
In response to a need for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, the National Cancer for Biotechnology Information (NCBI) has established the dbSNP database. Submissions to dbSNP will be integrated with other sources of information at NCBI
Minghong Ward, Elizabeth M. Smigielski, Karl Sirotkin, Stephen T. Sherry   +3 more
openaire   +3 more sources

Development and Validation of Machine Learning‐Based Marker for Early Detection and Prognosis Stratification of Nonalcoholic Fatty Liver Disease

Advanced Science, EarlyView.
This study constructs a stacked multimodal machine learning model for nonalcoholic fattly liver disease (NAFLD) by integrating genetic and clinical features, and synthesize an in‐silico quantitative marker (ISNLD) that enables personalized risk stratification for intrahepatic and extrahepatic outcomes of high‐risk individuals of NAFLD.
Lushan Xiao, Lin Zeng, Jiaren Wang, Chang Hong, Ziyong Zhang, Chengkai Wu, Hao Cui, Yan Li, Ruining Li, Shengxing Liang, Qijie Deng, Wenyuan Li, Xuejing Zou, Pengcheng Ma, Li Liu   +14 more
wiley   +1 more source

Cholesterol Ester Transfer Protein Taq1B Polymorphism and Its Association with Cardiovascular Risk Factors in Patients Undergoing Angiography in Yazd, Eastern Iran: A Cross-Sectional Study [PDF]

Iranian Journal of Medical Sciences
Background: Several studies assessed the relationship between the cholesterol ester transfer protein (CETP) Taq1B gene polymorphism (rs708272) with risk factors of cardiovascular diseases (CVDs). However, their findings were inconsistent.
Azam Ahmadi-Vasmehjani, Seyed Mostafa SeyedHosseini, Sayyed Saeid Khayyatzadeh, Farzan Madadizadeh, Mahta Mazaheri-Naeini, Mahdie Yavari, Zahra Darabi, Sara Beigrezaei, Marzieh Taftian, Vahid Arabi, Maryam Motallaei, Amin Salehi-Abargouei, Azadeh Nadjarzadeh   +12 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

Genetic Deconvolution of Embryonic and Maternal Cell‐Free DNA in Spent Culture Medium of Human Preimplantation Embryo Through Deep Learning

Advanced Science, EarlyView.
DECENT is a deep learning method that enhances noninvasive preimplantation genetic testing by accurately reconstructing embryonic copy number variations (CNVs) from cell‐free DNA in spent embryo culture media. By mitigating maternal contamination, DECENT improves diagnostic accuracy, even with high contamination levels, offering a reliable, noninvasive
Zhenyi Zhang, Jie Qiao, Yidong Chen, Peijie Zhou   +3 more
wiley   +1 more source

Association of single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529 with sudden cardiac death

Российский кардиологический журнал, 2019
Aim. To confirm the association between sudden cardiac death (SCD) and single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529, identified in own genome-wide associative study as new molecular genetic markers of SCD.Material and ...
A. A. Ivanova, V. N. Maksimov, S. K. Malutina, V. P. Novoselov, M. I. Voevoda   +4 more
doaj   +1 more source

Genomic dissection of the 1994 Cronobacter sakazakii outbreak in a French neonatal intensive care unit [PDF]

, 2015
Background: Cronobacter sakazakii is a member of the genus Cronobacter that has frequently been isolated from powdered infant formula (PIF) and linked with rare but fatal neonatal infections such as meningitis and necrotising enterocolitis.
Dickins, B, Farbos, A, Forsythe, S, Masood, N, McNally, A, Moore, K, Paszkiewicz, K   +6 more
core   +2 more sources

An Allele of Glutamate Formiminotransferase Triggers 5‐Methyl‐Tetrahydrofolate‐to‐MeFox Conversion and Facilitates Folate Biofortification in Maize

Advanced Science, EarlyView.
This work demonstrates the distinct roles of the glutamate formiminotransferase (GFT) enzyme in plants. The GFT triggers the conversion of 5‐methyl‐tetrahydrofolate to MeFox in plants, a process distinct from its role as a formiminotransferase in mammals.
Tong Lian, Wenzhu Guo, Yanjing Wang, Weiwei Wen, Weixuan Wang, Ling Jiang, Qiuju Liang, Ji'an Liu, Haijun Liu, Yuan Xue, Lixu Pan, Qiaoquan Liu, Ping Yin, Delin Zhang, Jianbing Yan, Chunyi Zhang   +15 more
wiley   +1 more source

Candidate Single Nucleotide Polymorphism Markers for Arsenic Responsiveness of Protein Targets

Bioinformatics and Biology Insights, 2010
Arsenic is a toxic metalloid that causes skin cancer and binds to cysteine residues—a property that could be used to infer arsenic responsiveness of a target protein.
Barbara E. Graham-Evans, Udensi K. Udensi, Paul B. Tchounwou, Rajendram V. Rajnarayanan, Matthew N. Anyanwu, Hari H.P. Cohly, Raphael D. Isokpehi   +6 more
doaj  

XRCC1, but not APE1 and hOGG1 gene polymorphisms is a risk factor for pterygium. [PDF]

, 2010
PurposeEpidemiological evidence suggests that UV irradiation plays an important role in pterygium pathogenesis. UV irradiation can produce a wide range of DNA damage.
Chen, Pei-Liang, Cheng, Ya-Wen, Koeh, Hank, Lee, Huei, Liu, Yu-Ling, Tsai, Yi-Yu, Yeh, Kun-Tu   +6 more
core   +1 more source