Výsledky vyhľadávania - "Single Nucleotide"

Genetic variants of the androgen receptor and frailty in postmenopausal women.

Autori: Monllor-Tormos A García-Pérez MÁ Tarín JJ a ďalší

Zdroj: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology [Gynecol Endocrinol] 2025 Dec 31; Vol. 41 (1), pp. 2565238. Date of Electronic Publication: 2025 Oct 05.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8807913 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-0766 (Electronic) Linking ISSN: 09513590 NLM ISO Abbreviation: Gynecol Endocrinol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Receptors, Androgen*/genetics , Postmenopause*/genetics , Polymorphism, Single Nucleotide* , Frailty*/genetics , Frailty*/epidemiology, Humans ; Female ; Middle Aged ; Aged ; Cross-Sectional Studies

Molecular Definition of the Novel HLA-DQB1*04:107 Allele Identified in Brazil Through Next-Generation Sequencing.

Autori: Perroni KTR Massi FP Hirata BKB a ďalší

Zdroj: HLA [HLA] 2025 Dec; Vol. 106 (6), pp. e70496.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print Cited Medium: Internet ISSN: 2059-2310 (Electronic) Linking ISSN: 20592302 NLM ISO Abbreviation: HLA Subsets: MEDLINE

Výrazy zo slovníka MeSH: Alleles* , Exons* , High-Throughput Nucleotide Sequencing* , HLA-DQ beta-Chains*/genetics , Polymorphism, Single Nucleotide*, Humans ; Base Sequence ; Brazil ; Histocompatibility Testing ; Sequence Analysis, DNA

The impact of single-nucleotide variants of hepatitis B virus and antiviral on liver cancer in gray zone patients.

Autori: Teng W Chang TT Su CW a ďalší

Zdroj: Journal of biomedical science [J Biomed Sci] 2025 Dec 01; Vol. 32 (1), pp. 101. Date of Electronic Publication: 2025 Dec 01.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: BioMed Central Country of Publication: England NLM ID: 9421567 Publication Model: Electronic Cited Medium: Internet ISSN: 1423-0127 (Electronic) Linking ISSN: 10217770 NLM ISO Abbreviation: J Biomed Sci Subsets: MEDLINE

Výrazy zo slovníka MeSH: Liver Neoplasms*/virology , Liver Neoplasms*/genetics , Liver Neoplasms*/epidemiology , Hepatitis B virus*/genetics , Polymorphism, Single Nucleotide* , Antiviral Agents*/therapeutic use , Carcinoma, Hepatocellular*/virology , Carcinoma, Hepatocellular*/genetics , Hepatitis B, Chronic*/drug therapy , Hepatitis B, Chronic*/virology , Hepatitis B, Chronic*/complications, Humans ; Male ; Female ; Middle Aged ; Retrospective Studies ; Adult ; Aged

The genetic polymorphism of XPR1 associated with Fanconi syndrome in Chinese patients with X-linked hypophosphatemia.

Autori: Han S Li X Liu W a ďalší

Zdroj: Journal of endocrinological investigation [J Endocrinol Invest] 2025 Dec; Vol. 48 (12), pp. 2869-2878. Date of Electronic Publication: 2025 Aug 06.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J Endocrinol Invest Subsets: MEDLINE

Výrazy zo slovníka MeSH: Familial Hypophosphatemic Rickets*/genetics , Familial Hypophosphatemic Rickets*/complications , Familial Hypophosphatemic Rickets*/epidemiology , Fanconi Syndrome*/genetics , Fanconi Syndrome*/epidemiology , Polymorphism, Single Nucleotide*, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Male ; Case-Control Studies ; China/epidemiology ; Fibroblast Growth Factor-23 ; Genetic Predisposition to Disease ; MicroRNAs/genetics ; Prognosis ; Xenotropic and Polytropic Retrovirus Receptor/genetics ; East Asian People/genetics ; Sodium-Phosphate Cotransporter Proteins, Type IIa ; Sodium-Phosphate Cotransporter Proteins, Type IIc

Correlations between ghrelin gene polymorphisms, cognitive function, and activities of daily living among elderly patients with Alzheimer's disease.

Autori: Liu W Wu L Hu J a ďalší

Zdroj: Annals of human biology [Ann Hum Biol] 2025 Dec; Vol. 52 (1), pp. 2507048. Date of Electronic Publication: 2025 Jun 04.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Taylor & Francis Country of Publication: England NLM ID: 0404024 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1464-5033 (Electronic) Linking ISSN: 03014460 NLM ISO Abbreviation: Ann Hum Biol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Ghrelin*/genetics , Ghrelin*/metabolism , Alzheimer Disease*/genetics , Alzheimer Disease*/psychology , Polymorphism, Single Nucleotide* , Cognition* , Activities of Daily Living*, Humans ; Aged ; Male ; Female ; Aged, 80 and over ; Genotype

The relationship of NOS3 G894 T (rs1799983) gene polymorphism in the risk of congenital heart disease: a meta-analysis and bioinformatics study.

Autori: Guo T Meng BW Jin G a ďalší

Zdroj: Naunyn-Schmiedeberg's archives of pharmacology [Naunyn Schmiedebergs Arch Pharmacol] 2025 Dec; Vol. 398 (12), pp. 17857-17879. Date of Electronic Publication: 2025 Jun 26.

Spôsob vydávania: Journal Article; Meta-Analysis

Informácie o časopise: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0326264 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1912 (Electronic) Linking ISSN: 00281298 NLM ISO Abbreviation: Naunyn Schmiedebergs Arch Pharmacol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Nitric Oxide Synthase Type III*/genetics , Heart Defects, Congenital*/genetics , Polymorphism, Single Nucleotide*, Humans ; Genetic Predisposition to Disease ; Computational Biology ; Risk Factors

Identification of deleterious non-synonymous single nucleotide polymorphisms in the mRNA decay activator ZFP36L2.

Autori: Akçeşme B Hekimoğlu H Chirasani VR a ďalší

Zdroj: RNA biology [RNA Biol] 2025 Dec; Vol. 22 (1), pp. 1-15. Date of Electronic Publication: 2024 Dec 13.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101235328 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1555-8584 (Electronic) Linking ISSN: 15476286 NLM ISO Abbreviation: RNA Biol Subsets: MEDLINE

Výrazy zo slovníka MeSH: Polymorphism, Single Nucleotide* , RNA Stability* , Protein Binding*, Humans ; Zinc Fingers ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; RNA, Messenger/chemistry ; Binding Sites ; Molecular Dynamics Simulation ; RNA-Binding Proteins/metabolism ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/chemistry ; Transcription Factors

Smart-SNPer: Automated crRNA design for ultrasensitive RPA-Cas12a SNP detection.

Autori: Han L Feng W Wang L a ďalší

Zdroj: Biosensors & bioelectronics [Biosens Bioelectron] 2025 Dec 01; Vol. 289, pp. 117909. Date of Electronic Publication: 2025 Aug 27.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Elsevier Advanced Technology Country of Publication: England NLM ID: 9001289 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4235 (Electronic) Linking ISSN: 09565663 NLM ISO Abbreviation: Biosens Bioelectron Subsets: MEDLINE

Výrazy zo slovníka MeSH: Polymorphism, Single Nucleotide*/genetics , Biosensing Techniques*/methods , Nucleic Acid Amplification Techniques*/methods , DNA*/genetics, Humans ; High-Throughput Nucleotide Sequencing ; Bacterial Proteins ; Endodeoxyribonucleases ; CRISPR-Associated Proteins

Impact of rs2046045 SNP in PDE8B on TSH Levels: Insights into Genetic Susceptibility to Hypothyroidism.

Autori: Khan S Rani N Yadav A a ďalší

Zdroj: Biochemical genetics [Biochem Genet] 2025 Dec; Vol. 63 (6), pp. 5516-5527. Date of Electronic Publication: 2024 Dec 20.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE

Výrazy zo slovníka MeSH: Hypothyroidism*/genetics , Hypothyroidism*/blood , Polymorphism, Single Nucleotide* , Thyrotropin*/blood , Thyrotropin*/genetics , 3',5'-Cyclic-AMP Phosphodiesterases*/genetics , Genetic Predisposition to Disease*, Humans ; Female ; Male ; Adult ; Case-Control Studies ; Middle Aged ; Genotype

Evaluation of leptin and leptin receptor gene polymorphisms in bipolar disorder: focus on depressive episodes with atypical features.

Autori: Aytac HM Oyaci Y Aytac E a ďalší

Zdroj: Archives of physiology and biochemistry [Arch Physiol Biochem] 2025 Dec; Vol. 131 (6), pp. 918-926. Date of Electronic Publication: 2025 May 23.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9510153 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-4160 (Electronic) Linking ISSN: 13813455 NLM ISO Abbreviation: Arch Physiol Biochem Subsets: MEDLINE

Výrazy zo slovníka MeSH: Receptors, Leptin*/genetics , Leptin*/genetics , Bipolar Disorder*/genetics , Polymorphism, Single Nucleotide*, Humans ; Male ; Female ; Adult ; Middle Aged ; Case-Control Studies ; Gene Frequency ; Genotype ; Genetic Predisposition to Disease

Mitochondrial ATP synthase 8 single-nucleotide polymorphism affects oxidative stress and survival of mice.

Autori: Reichart G Mayer J Tokay T a ďalší

Zdroj: Pflugers Archiv : European journal of physiology [Pflugers Arch] 2025 Dec; Vol. 477 (11-12), pp. 1343-1357. Date of Electronic Publication: 2025 Sep 20.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Springer Country of Publication: Germany NLM ID: 0154720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2013 (Electronic) Linking ISSN: 00316768 NLM ISO Abbreviation: Pflugers Arch Subsets: MEDLINE

Výrazy zo slovníka MeSH: Polymorphism, Single Nucleotide* , Oxidative Stress*/genetics , Mitochondrial Proton-Translocating ATPases*/genetics , Mitochondrial Proton-Translocating ATPases*/metabolism, Animals ; Mice ; Mice, Inbred C57BL ; Male ; Reactive Oxygen Species/metabolism ; Hippocampus/metabolism ; Mitochondria/metabolism ; Long-Term Potentiation

GWAS Identifies SNPs Associated With Severe Adverse Events and Efficacy in Advanced Renal Cell Carcinoma Treated With Nivolumab.

Autori: Tanegashima T Shiota M Akamatsu S a ďalší

Korporácia: Tanegashima T Shiota M Akamatsu S a ďalší

Zdroj: Cancer science [Cancer Sci] 2025 Dec; Vol. 116 (12), pp. 3300-3308. Date of Electronic Publication: 2025 Sep 24.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Wiley Publishing on behalf of the Japanese Cancer Association Country of Publication: England NLM ID: 101168776 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7006 (Electronic) Linking ISSN: 13479032 NLM ISO Abbreviation: Cancer Sci Subsets: MEDLINE

Výrazy zo slovníka MeSH: Nivolumab*/adverse effects , Nivolumab*/therapeutic use , Carcinoma, Renal Cell*/drug therapy , Carcinoma, Renal Cell*/genetics , Carcinoma, Renal Cell*/pathology , Carcinoma, Renal Cell*/mortality , Polymorphism, Single Nucleotide* , Kidney Neoplasms*/drug therapy , Kidney Neoplasms*/genetics , Kidney Neoplasms*/mortality , Kidney Neoplasms*/pathology , Immune Checkpoint Inhibitors*/adverse effects , Immune Checkpoint Inhibitors*/therapeutic use, Humans ; Male ; Genome-Wide Association Study ; Female ; Aged ; Middle Aged ; Prognosis ; Progression-Free Survival ; Biomarkers, Tumor/genetics ; Japan ; Aged, 80 and over ; Adult

Newly identified single-nucleotide polymorphism associated with the transition from nonalcoholic fatty liver disease to liver fibrosis: results from a nested case-control study in the UK biobank.

Autori: Ling Y Yang YX Chen YC a ďalší

Zdroj: Annals of medicine [Ann Med] 2025 Dec; Vol. 57 (1), pp. 2458201. Date of Electronic Publication: 2025 Feb 03.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8906388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2060 (Electronic) Linking ISSN: 07853890 NLM ISO Abbreviation: Ann Med Subsets: MEDLINE

Výrazy zo slovníka MeSH: Non-alcoholic Fatty Liver Disease*/genetics , Non-alcoholic Fatty Liver Disease*/complications , Non-alcoholic Fatty Liver Disease*/pathology , Liver Cirrhosis*/genetics , Liver Cirrhosis*/pathology , Polymorphism, Single Nucleotide*, Humans ; Case-Control Studies ; United Kingdom/epidemiology ; Male ; Female ; Middle Aged ; Genome-Wide Association Study ; Hepatic Stellate Cells/metabolism ; Biological Specimen Banks ; Collagen Type I, alpha 1 Chain ; Disease Progression ; Adult ; Cell Line ; Genetic Predisposition to Disease ; Oxidative Stress/genetics ; Aged ; UK Biobank

Position-independent single-nucleotide polymorphism discrimination by CRISPR/Cas12a via rational activator strand engineering.

Autori: Li QN Huang HR Li RY a ďalší

Zdroj: Biosensors & bioelectronics [Biosens Bioelectron] 2025 Dec 01; Vol. 289, pp. 117929. Date of Electronic Publication: 2025 Aug 27.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Elsevier Advanced Technology Country of Publication: England NLM ID: 9001289 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4235 (Electronic) Linking ISSN: 09565663 NLM ISO Abbreviation: Biosens Bioelectron Subsets: MEDLINE

Výrazy zo slovníka MeSH: Polymorphism, Single Nucleotide*/genetics , CRISPR-Cas Systems*/genetics , Biosensing Techniques*/methods, Humans ; Bacterial Proteins ; Endodeoxyribonucleases ; CRISPR-Associated Proteins

Proteomic genotyping for individual human identification: Inferring SNPs in the absence of DNA evidence.

Autori: Tidy RJ Keane RE Rye MS a ďalší

Zdroj: Forensic science international [Forensic Sci Int] 2025 Dec; Vol. 377, pp. 112664. Date of Electronic Publication: 2025 Sep 22.

Spôsob vydávania: Journal Article; Review

Informácie o časopise: Publisher: Elsevier Science Ireland Country of Publication: Ireland NLM ID: 7902034 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6283 (Electronic) Linking ISSN: 03790738 NLM ISO Abbreviation: Forensic Sci Int Subsets: MEDLINE

Výrazy zo slovníka MeSH: Polymorphism, Single Nucleotide* , Proteomics* , Genotype* , Genotyping Techniques*, Humans ; Forensic Genetics/methods ; Hair/chemistry

An SNP-dependent cancer-testis antigenic epitope serves as a promising immunotherapeutic target for cancer.

Autori: Murata K Minowa T Tsukahara T a ďalší

Zdroj: Oncoimmunology [Oncoimmunology] 2025 Dec; Vol. 14 (1), pp. 2528110. Date of Electronic Publication: 2025 Jul 09.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101570526 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2162-402X (Electronic) Linking ISSN: 21624011 NLM ISO Abbreviation: Oncoimmunology Subsets: MEDLINE

Výrazy zo slovníka MeSH: Antigens, Neoplasm*/immunology , Antigens, Neoplasm*/genetics , Polymorphism, Single Nucleotide* , Melanoma*/immunology , Melanoma*/genetics , Melanoma*/therapy , Epitopes*/immunology , Epitopes*/genetics , Epitopes, T-Lymphocyte*/immunology , Epitopes, T-Lymphocyte*/genetics , Neoplasm Proteins*/immunology , Neoplasm Proteins*/genetics, Humans ; Male ; Immunotherapy/methods ; Lymphocytes, Tumor-Infiltrating/immunology ; Testis/immunology ; Receptors, Antigen, T-Cell/immunology

Novel polymorphism at ARHGAP24 gene and its association with growth traits in Hu sheep.

Autori: Shan H Guo LY Huang X a ďalší

Zdroj: Animal biotechnology [Anim Biotechnol] 2025 Dec; Vol. 36 (1), pp. 2513958. Date of Electronic Publication: 2025 Jun 11.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9011409 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2378 (Electronic) Linking ISSN: 10495398 NLM ISO Abbreviation: Anim Biotechnol Subsets: MEDLINE

Výrazy zo slovníka MeSH: GTPase-Activating Proteins*/genetics , GTPase-Activating Proteins*/metabolism , Polymorphism, Single Nucleotide*/genetics, Animals ; Sheep/genetics ; Sheep/growth & development ; Haplotypes

Associations of PEDF genetic polymorphisms with retinopathy of prematurity.

Autori: Wu PL Kang EY Ling XC a ďalší

Zdroj: Experimental eye research [Exp Eye Res] 2025 Dec; Vol. 261, pp. 110681. Date of Electronic Publication: 2025 Oct 23.

Spôsob vydávania: Journal Article; Multicenter Study

Informácie o časopise: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

Výrazy zo slovníka MeSH: Serpins*/genetics , Serpins*/metabolism , Eye Proteins*/genetics , Eye Proteins*/metabolism , Retinopathy of Prematurity*/genetics , Retinopathy of Prematurity*/diagnosis , Retinopathy of Prematurity*/metabolism , Nerve Growth Factors*/genetics , Nerve Growth Factors*/metabolism , Polymorphism, Single Nucleotide* , Genetic Predisposition to Disease*, Humans ; Female ; Male ; Prospective Studies ; Infant, Newborn ; Genotype ; Gestational Age ; Polymerase Chain Reaction ; Gene Frequency ; Risk Factors

Donor IL-10 and FOXP3 single-nucleotide polymorphisms associated with post-transplantation outcomes.

Autori: Sakaki H Sato M Umemoto M a ďalší

Zdroj: Leukemia & lymphoma [Leuk Lymphoma] 2025 Dec; Vol. 66 (13), pp. 2479-2488. Date of Electronic Publication: 2025 Aug 25.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9007422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1029-2403 (Electronic) Linking ISSN: 10268022 NLM ISO Abbreviation: Leuk Lymphoma Subsets: MEDLINE

Výrazy zo slovníka MeSH: Polymorphism, Single Nucleotide* , Interleukin-10*/genetics , Forkhead Transcription Factors*/genetics , Graft vs Host Disease*/etiology , Graft vs Host Disease*/genetics , Tissue Donors* , Hematopoietic Stem Cell Transplantation*/adverse effects , Hematopoietic Stem Cell Transplantation*/methods , Cord Blood Stem Cell Transplantation*/adverse effects , Hematologic Neoplasms*/therapy , Hematologic Neoplasms*/mortality , Hematologic Neoplasms*/genetics, Humans ; Male ; Female ; Middle Aged ; Adult ; Retrospective Studies ; Genotype ; Prognosis ; Young Adult ; Transplantation, Homologous ; Treatment Outcome ; Adolescent ; Aged

BR-FDP-EYE: Brazilian Forensic DNA eye phenotyping.

Autori: Behrens LMP Gonçalves CEI da Silva Fernandes G a ďalší

Zdroj: Forensic science international [Forensic Sci Int] 2025 Dec; Vol. 377, pp. 112593. Date of Electronic Publication: 2025 Aug 25.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Elsevier Science Ireland Country of Publication: Ireland NLM ID: 7902034 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6283 (Electronic) Linking ISSN: 03790738 NLM ISO Abbreviation: Forensic Sci Int Subsets: MEDLINE

Výrazy zo slovníka MeSH: Eye Color*/genetics , Phenotype* , Polymorphism, Single Nucleotide*, Humans ; Brazil ; Forensic Genetics/methods ; Machine Learning ; Computational Biology