المؤلفون: Marie A. Chaix, James Ellis, Cedric Manlhiot, Emily Lam, Paul C. Nathan, Neha Parmar, Anne Christie, Jane Lougheed, Paul F. Kantor, Guoliang Meng, Luc Mertens, Anastasia Miron, Leonard S. Sender, Stacey Marjerrison, Shayna Zelcer, Ashok Kumar Manickaraj, David C. Hodgson, Rejane Dillenburg, Seema Mital, Oyediran Akinrinade, Herschel Rosenberg, Roderick Yao, Caroline Kinnear, Myriam Lafreniere-Roula, Mylene Bassal

المساهمون: Pediatrics

المصدر: Paediatrics Publications
JACC: CardioOncology

مصطلحات موضوعية: H2AX, H2A family member X, Oncology, Cardiac & Cardiovascular Systems, PREDICTION, VARIANT, Cardiomyopathy, DMSO, dimethyl sulfoxide, THERAPY, Pediatrics, LVEF - Left ventricular ejection fraction, AUC, area under the curve, risk prediction, GSEA, gene set enrichment analysis, IC50, half-maximal inhibitory concentration, TUMOR, LVEF, left ventricular ejection fraction, echocardiography, Genetic risk, Original Research, mRNA, messenger RNA, PGP, Personal Genome Project, RF, random forest, machine learning, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, Clinical risk factor, Cancer survivorship, SKAT, sequence kernel association test, medicine.medical_specialty, DOXORUBICIN, Anthracycline, MAF, minor allele frequency, anthracycline, MECHANISMS, Internal medicine, genomics, medicine, GENOME-WIDE ASSOCIATION, LV, left ventricular, SNV, single-nucleotide variant, Cardiotoxicity, Science & Technology, CARDIOMYOPATHY, hiPSC-CM, human induced pluripotent stem cell–derived cardiomyocyte, business.industry, medicine.disease, DOX, doxorubicin, Pediatric cancer, CI, confidence interval, OR, odds ratio, cancer survivorship, Cardiovascular System & Cardiology, RISK-FACTORS, business, cardiomyopathy

وصف الملف: application/pdf; text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9640c808872a8ac2a5f1d998b90f334Test
https://doi.org/10.1016/j.jaccao.2020.11.004Test

المؤلفون: Victoria Roberts, Nicholas J. Timpson, Barry Main, Simon Haworth

المصدر: Roberts, V, Main, B, Timpson, N J & Haworth, S 2020, ' Genome wide association study identifies genetic associations with perceived age ', Journal of Investigative Dermatology . https://doi.org/10.1016/j.jid.2020.03.970Test
The Journal of Investigative Dermatology

مصطلحات موضوعية: Male, 0301 basic medicine, Linkage disequilibrium, BMI, body mass index, Genome-wide association study, Smad2 Protein, Human physical appearance, Biochemistry, 0302 clinical medicine, NIMA-Related Kinases, Medicine, Protein Interaction Maps, Adiposity, Skin, Age Factors, Middle Aged, Biobank, Physical Appearance, Body, 030220 oncology & carcinogenesis, Genetics/Genetic Disease, GCT-VL, Complex Trait Genomics Virtual Lab, Original Article, Female, ICEP, Signal Transduction, Adult, FDR, false discovery rate, LD, linkage disequilibrium, Ultraviolet Rays, Dermatology, MAF, minor allele frequency, Polymorphism, Single Nucleotide, 03 medical and health sciences, Humans, GWAS, genome-wide association study, Molecular Biology, Aged, SNV, single nucleotide variant, business.industry, Haplotype, Cell Biology, Skin Aging, Minor allele frequency, 030104 developmental biology, Genetic Loci, business, Body mass index, Imputation (genetics), Genome-Wide Association Study, Demography

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fda96b6370996cd2266bb68713cb0cTest
https://doi.org/10.1016/j.jid.2020.03.970Test

المؤلفون: Akhil Padarti, Ofek Belkin, Johnathan Abou-Fadel, Jun Zhang

المصدر: Biochemistry and Biophysics Reports
Biochemistry and Biophysics Reports, Vol 29, Iss, Pp 101218-(2022)

مصطلحات موضوعية: POLYPHEN-2, Polymorphism Phenotyping, Amino acid substitution, QH301-705.5, Short Communication, PTB, phosphotyrosine binding, PH, pleckstrin homology, CUPSAT, Cologne University Protein Stability Analysis Tool, Biophysics, PTCs, premature termination codons, QD415-436, macromolecular substances, INDELs, insertions/deletions, PANTHER, Protein ANalysis THrough Evolutionary Relationship, MAF, minor allele frequency, Biochemistry, environment and public health, PROVEAN, Protein Variation Effect Analyzer, Tertiary structure, I-TASSER, the iterative threading assembly refinement, Biology (General), PDB, protein data bank, CCMs, cerebral cavernous malformations, HOPE, Have (y)Our Protein Explained, integumentary system, Single nucleotide polymorphisms (SNPs), SIFT, Sorting Intolerant From Tolerant, CSC, CCM signaling complex, Nonsynonymous single nucleotide polymorphisms (nsSNPs), In-silico analysis, Superimposition of protein structures, nsSNP, nonsynonymous single nucleotide polymorphism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef96d23ace56c6f3462edfb27158ca35Test
http://europepmc.org/articles/PMC8808078Test

المؤلفون: Nandita Mitra, David J. Margolis, Ole Hoffstad, Bradley Wubbenhorst, Katherine L. Nathanson, Ronald Berna

المصدر: JID Innovations, Vol 1, Iss 4, Pp 100046-(2021)
JID Innovations

مصطلحات موضوعية: integumentary system, business.industry, Inflammatory skin disease, General Engineering, Atopic dermatitis, Dermatology, AD, atopic dermatitis, MAF, minor allele frequency, PoC, probability of clearance, medicine.disease, GAD, genetics of atopic dermatitis, Minor allele frequency, GEE, generalized estimating equation, RL1-803, Immunology, medicine, Original Article, LoF, loss of function, PEER, Pediatric Eczema Elective Registry, Allele, business, Gene, Loss function, Filaggrin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef184e40f6e6658637a2cfd2ed2ec4b7Test
http://www.sciencedirect.com/science/article/pii/S2667026721000473Test

المؤلفون: Huilin Xie, Xin Shi, Ruilin Zhang, Tieliu Shi, Qihua Fu, Kai Bai, Kun Sun, Yanan Lu, Sun Chen, Yu Yu, Li Zhang

المصدر: Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 381-392 (2020)

مصطلحات موضوعية: Candidate gene, ACMG, American College of Medical Genetics, Gene mutation, Pulmonary atresia, Biochemistry, Pathogenesis, 0302 clinical medicine, ExAC, Exome Aggregation Consortium, GSEA, gene set enrichment analysis, Structural Biology, RT-qPCR, Reverse Transcription Quantitative PCR, Medicine, GEO, Gene Expression Omnibus, TOF, tetralogy of Fallot, gnomAD, Genome Aggregation Database, Exome sequencing, LOF, loss-of-function, Genetics, 0303 health sciences, Congenital heart defect, PA, Pulmonary atresia, SNP, single nucleotide polymorphism, CHD, congenital heart defect, HPAECs, Human Pulmonary Artery Endothelial Cells, Computer Science Applications, RV, right ventricle, Whole-exome sequencing, 030220 oncology & carcinogenesis, Gene mutations, WES, whole exome sequencing, Research Article, Biotechnology, FAT1, PA/IVS, Pulmonary atresia with intact ventricular septum, HNRNPC, lcsh:Biotechnology, PPI, protein–protein interactions, Biophysics, MAF, minor allele frequency, DNA sequencing, 03 medical and health sciences, lcsh:TP248.13-248.65, CTD, Conotruncal defect, ComputingMethodologies_COMPUTERGRAPHICS, 030304 developmental biology, business.industry, PA/VSD, Pulmonary atresia with ventricular septal defect, Rare variants, medicine.disease, STRING, Search Tool for the Retrieval of Interacting Genes, business, FDR, False discovery rates

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4944a71ab015df137b1cb69ce165da3Test
https://doi.org/10.1016/j.csbj.2020.01.011Test

المؤلفون: Laura, Airaksinen, Juliana Xm, Cerqueira, Heini, Huhtala, Päivi, Saavalainen, Dawit A, Yohannes, Markku, Mäki, Kalle, Kurppa, Elina, Kilpeläinen, Anastasia, Shcherban, Aarno, Palotie, Katri, Kaukinen, Katri, Lindfors

المصدر: Journal of Translational Autoimmunity

مصطلحات موضوعية: PBMC, peripheral blood mononuclear cell, Research paper, CCR9, CC motif chemokine receptor 9, Chemokine receptor, HLA, human leukocyte antigen, HWE, Hardy-Weinberg equilibrium, SNP, single nucleotide polymorphism, MAF, minor allele frequency, QC, quality control, OR, odds ratio, CI, confidence interval, TG2, transglutaminase 2, CCL25, CC motif chemokine ligand 25, Clinical picture, Genetic association, eQTL, expression quantitative trait loci, Celiac disease, Genetic variation, FUMA, Functional Mapping and Annotation of GWAS, GWAS, genome-wide association study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ce398e93a37f62c38df6650111fa1628Test
https://pubmed.ncbi.nlm.nih.gov/34901814Test

المؤلفون: Miriam Givisay Domínguez-Cruz, María de Lourdes Muñoz, Armando Totomoch-Serra, Carlos Manterola

المصدر: Gene

مصطلحات موضوعية: 2019-20 coronavirus outbreak, OR, Odds Ratio, GWAS, Genome-Wide Association Study, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Single-nucleotide polymorphism, Biology, C21 drug, AGTR2 agonist, Polymorphism, Single Nucleotide, Receptor, Angiotensin, Type 2, SARS-CoV-2, severe acute respiratory syndrome coronavirus 2, Angiotensin II Receptor Type 2, TOPMed, The Trans-Omics for Precision Medicine, Genetics, Diabetes Mellitus, Humans, dbSNP, The Single Nucleotide Polymorphism Database, Genetic Predisposition to Disease, MIM, Mendelian Inheritance in Man, Indigenous Peoples, education, sFPKM, significant fragments per kilobase of transcript per million mapped reads, Letter to the Editor, Mexico, COVID-19, coronavirus disease 2019, C21 drug, education.field_of_study, AGTR2 gene, SARS-CoV-2, Pilot GWAS study, Maya population, General Medicine, Virology, Angiotensin II receptor type 2, Single nucleotide polymorphism, Diabetes Mellitus, Type 2, AGTR2, Angiotensin II Receptor Type 2, MAF, Minor allele frequency, Yucatan, Covid-19

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9da1f6469536ab62d27d7b562cd3023Test
http://europepmc.org/articles/PMC8223127Test

المؤلفون: Emily M. Overway, Karin J. Bosma, Derek P. Claxton, James K. Oeser, Kritika Singh, Lindsay B. Breidenbach, Hassane S. Mchaourab, Lea K. Davis, Richard M. O'Brien

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: Blood Glucose, insulin secretion, FBG, fasting blood glucose, glucose metabolism, single-nucleotide polymorphism (SNP), MAF, minor allele frequency, Polymorphism, Single Nucleotide, GWAS, genome-wide association studies, Biochemistry, G6Pase, glucose-6-phosphatase, enzyme degradation, ER, endoplasmic reticulum, GSIS, glucose-stimulated insulin secretion, Mice, G6PC, glucose-6-phosphatase catalytic subunit, ORF, open reading frame, EHR, electronic health record, Animals, AA, amino acid, Molecular Biology, glucose-6-phosphatase, islet, HRP, horseradish peroxidase, Fasting, Cell Biology, WT, wild-type, GSD1a, glycogen storage disease type 1a, SNP, single-nucleotide polymorphism, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef4340dded8a0d34baa547e94588b64Test
https://doi.org/10.1016/j.jbc.2021.101534Test

المؤلفون: Xinyan Xie, Fang Hou, Huaiting Gu, Ranran Song, Xin Li, Xiu Luo, Lingfei Liu, Pauline Denis Nkomola

المصدر: EBioMedicine
EBioMedicine, Vol 34, Iss, Pp 165-170 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, CNTNAP2, lcsh:Medicine, Logistic regression, Dyslexia, 0302 clinical medicine, Genotype, ASD, autism-spectrum disorder, Gender difference, DCCC, The Dyslexia Checklist for Chinese Children, Child, Genetics, lcsh:R5-920, Sex Characteristics, PRS, Pupil Rating Scale-Revised Screening for Learning Disabilities, CNTNAP2, contactin-associated protein-like 2, General Medicine, GMV, gray matter volume, Female, lcsh:Medicine (General), Research Paper, China, FDR, false discovery rate, Adolescent, Developmental dyslexia, CNV, copy number variant, Nerve Tissue Proteins, Single-nucleotide polymorphism, Biology, MAF, minor allele frequency, Lower risk, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Asian People, medicine, Humans, Attention deficit hyperactivity disorder, Genetic Predisposition to Disease, 5′-UTR, five prime untranslated regions, Allele, LSOG, the left superior occipital gyrus, Genetic association, lcsh:R, Membrane Proteins, medicine.disease, Minor allele frequency, ADHD, attention deficit hyperactivity disorder, 030104 developmental biology, DD, developmental dyslexia, Gene-Environment Interaction, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce337ebd20210f796d1eda9aac51fce6Test
https://doi.org/10.1016/j.ebiom.2018.07.007Test

المؤلفون: Zara Saleem, In Sook Ahn, Yuqi Zhao, Helen Luk, Montgomery Blencowe, Ingrid Cely, Ville-Petteri Mäkinen, Xia Yang

المصدر: Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100019-(2021)

مصطلحات موضوعية: 0301 basic medicine, FDR, false discovery rate, LD, linkage disequilibrium, GLGC, Global Lipids Genetics Consortium, Genome-wide association study, pathway and network analysis, T2D, type 2 diabetes, QD415-436, 030204 cardiovascular system & hematology, APOF, CVD, cardiovascular disease, HAEC, human aortic endothelial cell, MAF, minor allele frequency, Biochemistry, eQTL, expression quantitative trait locus, KEGG, Kyoto Encyclopedia of Genes and Genomes, MSEA, Marker Set Enrichment Analysis, KDA, key driver analysis, 03 medical and health sciences, chemistry.chemical_compound, integrative genomics, eSNP, expression SNP, 0302 clinical medicine, Endocrinology, Adipocyte, coagulation factor II, lipid metabolism, GWAS, KEGG, GWAS, genome-wide association study, Gene knockdown, biology, TG, triglyceride, Lipid metabolism, Cell Biology, Cell biology, TC, total cholesterol, iGSEA, improved gene-set-enrichment analysis, 030104 developmental biology, UC, unesterified cholesterol, chemistry, ABCA1, Expression quantitative trait loci, biology.protein, lipids (amino acids, peptides, and proteins), Research Article, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a8aff1aa62ecad7325977eb13780ebTest
http://europepmc.org/articles/PMC7873371Test