Výsledky vyhledávání - "Polymorphism, Single Nucleotide/genetics"

Frequencies of molecular markers of drug resistance in the context of two different Seasonal Malaria Chemoprevention (SMC) treatment regimens in the Koulikoro health district, Mali

Autoři: Bourama Traore Fousseyni Kane Mahamoudou Toure a další

Zdroj: Traore, B, Kane, F, Toure, M, Jørgensen, M H M, Sanogo, D, Keita, S, Keita, M, Sogoba, N, Shaw-Saliba, K, Diakite, M, Shaffer, J G, Alifrangis, M, Hansson, H & Doumbia, S 2025, ' Frequencies of molecular markers of drug resistance in the context of two different Seasonal Malaria Chemoprevention (SMC) treatment regimens in the Koulikoro health district, Mali ', Antimicrobial Agents and Chemotherapy, vol. 69, no. 10, e0180624 . https://doi.org/10.1128/aac.01806-24

Témata: Tetrahydrofolate Dehydrogenase/genetics, Drug Resistance/genetics, Pyrimethamine/therapeutic use, DNA Copy Number Variations/genetics, Malaria, Falciparum/prevention & control, Mali, Polymorphism, Single Nucleotide/genetics, Plasmodium falciparum/drug effects, Sulfadoxine/therapeutic use, Artemisinins/therapeutic use, Chemoprevention/methods, Piperazines, Drug Combinations, Multidrug Resistance-Associated Proteins/genetics, Haplotypes, Antimalarials/therapeutic use, Protozoan Proteins/genetics, Humans, Seasons, Membrane Transport Proteins/genetics, Aspartic Acid Endopeptidases/genetics, Quinolines/therapeutic use

Popis souboru: application/pdf

Přístupová URL adresa: https://curis.ku.dk/ws/files/500789429/traore-et-al-2025-frequencies-of-molecular-markers-of-drug-resistance-in-the-context-of-two-different-seasonal-malaria.pdf

Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study

Autoři: Ugalde-Morales, E. Wilf, R. Pluta, J. a další

Zdroj: Am J Hum Genet
American Journal of Human Genetics, 112, 3, pp. 630-643
Ugalde-Morales, E, Wilf, R, Pluta, J, Ploner, A, Fan, M, Damra, M, Aben, K K, Anson-Cartwright, L, Chen, C, Cortessis, V K, Daneshmand, S, Ferlin, A, Gamulin, M, Gietema, J A, Gonzalez-Niera, A, Grotmol, T, Hamilton, R J, Harland, M, Haugen, T B, Hauser, R, Hildebrandt, M A T, Karlsson, R, Kiemeney, L A, Kim, J, Lessel, D, Lothe, R A, Loveday, C, Chanock, S J, McGlynn, K A, Meijer, C, Nead, K T, Nsengimana, J, Popovic, M, Rafnar, T, Richiardi, L, Rocca, M S, Schwartz, S M, Skotheim, R I, Stefansson, K, Stewart, D R, Turnbull, C, Vaughn, D J, Winge, S B, Zheng, T, Monteiro, A N, Almstrup, K, Kanetsky, P A, Nathanson, K L, Wiklund, F & The Testicular Cancer Consortium 2025, ' Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study ', American Journal of Human Genetics, vol. 112, no. 3, pp. 630-643 . https://doi.org/10.1016/j.ajhg.2025.01.022

Témata: Male, Primary and Community Care - Radboud University Medical Center, Gene Expression Profiling, colocalization analysis, testicular germ cell tumors, transcriptome-wide association study, Neoplasms, Germ Cell and Embryonal, Polymorphism, Single Nucleotide, Transcriptome / genetics, Article, Gene Expression Regulation, Neoplastic, Testicular Neoplasms / genetics, Testicular Neoplasms, Neoplasms, Germ Cell and Embryonal / genetics, IQ health - Radboud University Medical Center, Urology - Radboud University Medical Center, Humans, Genetic Predisposition to Disease, Transcriptome, Polymorphism, Single Nucleotide / genetics, Genome-Wide Association Study

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39999848
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/317614
https://doi.org/10.1016/j.ajhg.2025.01.022
https://hdl.handle.net/11370/b6938e82-8f31-4cb3-b558-d341748fad39
https://research.rug.nl/en/publications/b6938e82-8f31-4cb3-b558-d341748fad39
https://doi.org/10.1016/j.ajhg.2025.01.022
https://repository.ubn.ru.nl//bitstream/handle/2066/317614/317614.pdf
https://hdl.handle.net/2066/317614
https://curis.ku.dk/ws/files/431467687/1_s2.0_S0002929725000229_main.pdf
https://urn.nsk.hr/urn:nbn:hr:105:918624
https://doi.org/10.1016/j.ajhg.2025.01.022

X‐chromosome-wide association study for Alzheimer’s disease

Autoři: Le Borgne, Julie Gomez, Lissette Heikkinen, Sami a další

Přispěvatelé: Le Borgne, Julie Gomez, Lissette Heikkinen, Sami a další

Zdroj: Mol Psychiatry
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Molecular psychiatry
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Molecular psychiatry 30(6), 2335-2346 (2025). doi:10.1038/s41380-024-02838-5
Molecular psychiatry, vol. 30, no. 6, pp. 2335-2346
Le Borgne, J, Gomez, L, Heikkinen, S, Amin, N, Ahmad, S, Choi, S H, Bis, J, Grenier-Boley, B, Rodriguez, O G, Kleineidam, L, Young, J, Tripathi, K P, Wang, L, Varma, A, Campos-Martin, R, van der Lee, S, Damotte, V, de Rojas, I, Palmal, S, Lipton, R, Reiman, E, McKee, A, De Jager, P, Bush, W, Small, S, Levey, A, Saykin, A, Foroud, T, Albert, M, Hyman, B, Petersen, R, Younkin, S, Sano, M, Wisniewski, T, Vassar, R, Schneider, J, Henderson, V, Roberson, E, DeCarli, C, LaFerla, F, Brewer, J, Swerdlow, R, Van Eldik, L, Hamilton-Nelson, K, Paulson, H, Naj, A, Lopez, O, Chui, H, Crane, P, Frikke-Schmidt, R & EADB, GR@ACE, DEGESCO, EADI, GERAD, DemGene, FinnGen, ADGC, CHARGE 2025, ' X-chromosome-wide association study for Alzheimer’s disease ', Molecular Psychiatry, vol. 30, no. 6, pp. 2335-2346 . https://doi.org/10.1038/s41380-024-02838-5

Témata: Male, 0301 basic medicine, MILD COGNITIVE IMPAIRMENT, mental disorder, Medizin, PROGRESSION, genetics [Alzheimer Disease], methods [Genome-Wide Association Study], FAMILY-HISTORY, X Chromosome Inactivation, DEMENTIA INCIDENCE, genetics [Chromosomes, Human, X], genetics [Genetic Predisposition to Disease], 11 Medical and Health Sciences, X-chromosome, Psychiatry, Aged, 80 and over, 0303 health sciences, Biología y Biomedicina / Biología, PREVALENCE, 17 Psychology and Cognitive Sciences, Chemistry, genetics [X Chromosome Inactivation], genetics [Polymorphism, Single Nucleotide], Female, Alzheimer's disease, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, SEX-DIFFERENCES, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Polymorphism, Single Nucleotide, INACTIVATION PATTERNS, Article, 03 medical and health sciences, EADB, GR@ACE, DEGESCO, EADI, GERAD, DemGene, FinnGen, ADGC, CHARGE, SDG 3 - Good Health and Well-being, Alzheimer Disease, Humans, Alzheimer Disease/genetics, Genome-Wide Association Study/methods, Chromosomes, Human, X/genetics, Genetic Predisposition to Disease/genetics, Polymorphism, Single Nucleotide/genetics, Aged, X Chromosome Inactivation/genetics, Case-Control Studies, Genetic Predisposition to Disease, ddc:610, Biology, METAANALYSIS, Chromosomes, Human, X, Science & Technology, genome-wide association study, Neurosciences, 3202 Clinical sciences, 06 Biological Sciences, 5203 Clinical and health psychology, RISK LOCI, X chromosome, Alzheimer, genetics, 5202 Biological psychology, Human medicine, Neurosciences & Neurology, TAU, genetic predisposition, Genome-Wide Association Study

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39633006
http://hdl.handle.net/10261/391338
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=22960
http://hdl.handle.net/10486/718983
https://ora.ox.ac.uk/objects/uuid:86b80599-4026-437e-a77c-94cc024f2170
https://doi.org/10.1038/s41380-024-02838-5
https://hdl.handle.net/10281/526991
https://doi.org/10.1038/s41380-024-02838-5
https://hdl.handle.net/10486/718983
https://doi.org/10.1038/s41380-024-02838-5
https://resolver.sub.uni-goettingen.de/purl?gro-2/147121
https://serval.unil.ch/resource/serval:BIB_95DD4D5D9C2A.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_95DD4D5D9C2A
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_95DD4D5D9C2A0
https://hdl.handle.net/10067/2133430151162165141
https://repository.uantwerpen.be/docstore/d:irua:28146
https://hdl.handle.net/10807/304072
https://doi.org/10.1038/s41380-024-02838-5
https://curis.ku.dk/ws/files/452144081/s41380-024-02838-5.pdf
https://hal.science/hal-04911762v1/document
https://doi.org/10.1038/s41380-024-02838-5
https://hal.science/hal-04911762v1
https://epub.ub.uni-muenchen.de/123291/
https://hdl.handle.net/2318/2051970
https://doi.org/10.1038/s41380-024-02838-5

Age-dependent genetic architectures of chicken body weight explored by multidimensional GWAS and molQTL analyses

Autoři: Conghao Zhong Xiaochang Li Dailu Guan a další

Zdroj: Zhong, C, Li, X, Guan, D, Zhang, B, Wang, X, Qu, L, Zhou, H, Fang, L, Sun, C, Yang, N & ChickenGTEx Consortium 2024, 'Age-dependent genetic architectures of chicken body weight explored by multidimensional GWAS and molQTL analyses', Journal of Genetics and Genomics, vol. 51, no. 12, pp. 1423-1434. https://doi.org/10.1016/j.jgg.2024.09.003

Témata: Chickens/genetics, Quantitative Trait Loci, Body Weight, Age-dependent, Body weight, Polymorphism, Single Nucleotide/genetics, Chicken, Polymorphism, Single Nucleotide, Phenotype, Body Weight/genetics, Molecular quantitative loci, FarmGTEx, GWAS, Animals, Quantitative Trait Loci/genetics, Chickens, Genome-Wide Association Study

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39306327
https://pure.au.dk/portal/en/publications/b9ff665c-e0dd-42f7-a90f-9fd00696c016

Zoran aSiM v11 — Injector-Engine AllLabs: Towards a unified reproducibility and compliance framework for INSERM, CEA, INRIA, INRAE, IRD

Autoři: Tabary, Frédéric

Témata: Polymorphism, Single Nucleotide/immunology, Artificial intelligence, Epidemiology, Polymorphism, Genetic/immunology, Intelligence, Polymorphism, Single-Stranded Conformational/genetics, Confidence interval 95%, Polymorphic engine, Open Science, Clinical trials, CEA, One-Shot Injector, Mimetic AI, Radiation Genomics, Genomics/standards, Imaging Genomics, Canaliculitis/epidemiology, GDPR, Méthodes & techniques, Amplified Fragment Length Polymorphism Analysis, Polymorphism, Genetic/genetics, HPC & quantique, Polymorphism, Single-Stranded Conformational, INRAE, INSERM, Machine learning robustness, Z3 solver, Insurance, Liability/statistics & numerical data, Polymorphism, Restriction Fragment Length/physiology, HPC simulations, Numerical stability, Polymorphism, Restriction Fragment Length/immunology, Reproducibility • Trust Report • Auditability • Compliance • GDPR • AI, Genomics, Biodiversity, intelligence, INRIA, Polymorphism, Single Nucleotide/genetics, Reproducibility, ISO/IEC 42001, Formal verification, Fractals, Zoran aSiM, injecteur, Auditability, Statistical audit, Agro-climate modeling, IRD, KeyGuardian, Polymorphism, Genetic/radiation effects, Ethical AI, Medical imaging, Polymorphism, Genetic/physiology, Fractal, Genomics/history, Polymorphism, Restriction Fragment Length, Polymorphism, Restriction Fragment Length/genetics, Compliance, Sympy, Injecteur polymorphe, Ciliopathies/epidemiology, Trust Report, Mutation testing, ΔM11.3 fractal memory, Polymorphisme, Polymorphism, Single Nucleotide/physiology, Polymorphism, Single Nucleotide, Social Genomics, AI Act, Genomics/ethics, Polymorphism, Single-Stranded Conformational/immunology, Adversarial testing, ZDM, Computational intelligence, Polymorphism, Genetic, Aircraft/ethics, Property-based testing, Intelligence/classification, Polymorphism, Single-Stranded Conformational/physiology, Chaos testing, Scientific governance, Quantum computing, iA Mimetique, AI Mimetic, Genomics/methods, Polymorphism, Genetic/drug effects, Error propagation, EthicChain, Polymorphism, Single Nucleotide/radiation effects, Conformité & gouvernance

Implicating type 2 diabetes effector genes in relevant metabolic cellular models using promoter-focused Capture-C

Autoři: Wachowski, Nicholas A. Pippin, James A. Boehm, Keith a další

Zdroj: Diabetologia

Témata: Type 2 diabetes, Humans [MeSH], Cell Line [MeSH], Hep G2 Cells [MeSH], SMCO4, Polymorphism, Single Nucleotide/genetics [MeSH], Insulin secretion, Genome-Wide Association Study [MeSH], Promoter Regions, Genetic/genetics [MeSH], Chromatin conformation, Article, Diabetes Mellitus, Type 2/genetics [MeSH], Epigenetics, Diabetes Mellitus, Type 2/metabolism [MeSH], Variant to gene mapping, Insulin-Secreting Cells/metabolism [MeSH], Diabetes Mellitus, Type 2, Insulin-Secreting Cells, Humans, Hep G2 Cells, Promoter Regions, Genetic, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Cell Line

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39240351
https://repository.publisso.de/resource/frl:6506935

Child maltreatment as a transdiagnostic risk factor for the externalizing dimension: a Mendelian randomization study

Autoři: Konzok, Julian Gorski, Mathias Winkler, Thomas W. a další

Přispěvatelé: Konzok, Julian Gorski, Mathias Winkler, Thomas W. a další

Zdroj: Mol Psychiatry

Témata: Male, Conduct Disorder, 0301 basic medicine, ddc:610, Substance-Related Disorders, Antisocial Personality Disorder/epidemiology [MeSH], Antisocial Personality Disorder/genetics [MeSH], Risk Factors [MeSH], 692/699/476, Attention Deficit Disorder with Hyperactivity/genetics [MeSH], Polymorphism, Single Nucleotide/genetics [MeSH], Genome-Wide Association Study/methods [MeSH], Male [MeSH], Conduct Disorder/epidemiology [MeSH], 45/43, Child Abuse/psychology [MeSH], Phenotype [MeSH], Child [MeSH], Genetic Predisposition to Disease/genetics [MeSH], Substance-Related Disorders/psychology [MeSH], Gene-Environment Interaction [MeSH], Female [MeSH], Conduct Disorder/genetics [MeSH], 631/208, Humans [MeSH], 631/477, Article, Substance-Related Disorders/genetics [MeSH], Mendelian Randomization Analysis/methods [MeSH], article, 610 Medizin, Antisocial Personality Disorder, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide, 3. Good health, 03 medical and health sciences, Phenotype, 0302 clinical medicine, Risk Factors, Attention Deficit Disorder with Hyperactivity, Humans, Female, Genetic Predisposition to Disease, Gene-Environment Interaction, Child Abuse, Child, Genome-Wide Association Study

Popis souboru: text/xml; application/zip; application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39174650
https://repository.publisso.de/resource/frl:6492158
https://epub.uni-regensburg.de/59015/

A meta-analysis of genome-wide studies of resilience in the German population

Autoři: Marisol Herrera-Rivero Linda Garvert Katrin Horn a další

Zdroj: Mol Psychiatry
Molecular psychiatry 30(2), 497-505 (2025). doi:10.1038/s41380-024-02688-1

Témata: Male, Adult, 0301 basic medicine, 0303 health sciences, Resilience, Psychological, Middle Aged, methods [Genome-Wide Association Study], Article, ddc, 3. Good health, Female [MeSH], Multifactorial Inheritance/genetics [MeSH], 631/208, Personality/genetics [MeSH], Resilience, Psychological [MeSH], Adult [MeSH], Humans [MeSH], Mental Health [MeSH], Middle Aged [MeSH], 692/699/476, Polymorphism, Single Nucleotide/genetics [MeSH], Cohort Studies [MeSH], 631/477, Genome-Wide Association Study/methods [MeSH], Male [MeSH], 45/43, Germany [MeSH], article, Cohort Studies, 03 medical and health sciences, Mental Health, Germany, genetics [Polymorphism, Single Nucleotide], Humans, genetics [Personality], Female, ddc:610, genetics [Multifactorial Inheritance]

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39112778
https://cris.maastrichtuniversity.nl/en/publications/6705496c-b5a2-468c-a0ae-f49f18427510
https://doi.org/10.1038/s41380-024-02688-1
https://pub.dzne.de/record/276147
https://repository.publisso.de/resource/frl:6503734
https://mediatum.ub.tum.de/doc/1769787/document.pdf

A bipolar disorder-associated missense variant alters adenylyl cyclase 2 activity and promotes mania-like behavior

Autoři: Paromita Sen Oskar Ortiz Elena Brivio a další

Zdroj: Mol Psychiatry
Molecular psychiatry 30(1), 97-110 (2025). doi:10.1038/s41380-024-02663-w

Témata: Male, 0301 basic medicine, 38/77, Adenylyl Cyclases/metabolism [MeSH], Mice, Inbred C57BL [MeSH], Mutation, Missense/genetics [MeSH], 42/41, 38/90, 42, Polymorphism, Single Nucleotide/genetics [MeSH], 38/39, Male [MeSH], 64/110, 13/109, 9/30, 38/1, Disease Models, Animal [MeSH], Hippocampus/metabolism [MeSH], 45, Female [MeSH], 692/699/476/1333, Humans [MeSH], Animals [MeSH], Adenylyl Cyclases/genetics [MeSH], Bipolar Disorder/genetics [MeSH], Mice [MeSH], Cyclic AMP/metabolism [MeSH], Article, 82/1, Mania/genetics [MeSH], 13/95, 38, 631/378, Bipolar Disorder/metabolism [MeSH], article, Bipolar Disorder, genetics [Mutation, Missense], Mutation, Missense, metabolism [Hippocampus], Polymorphism, Single Nucleotide, Hippocampus, Mice, 03 medical and health sciences, adenylyl cyclase 2, metabolism [Adenylyl Cyclases], Cyclic AMP, Animals, Humans, ddc:610, 0303 health sciences, metabolism [Bipolar Disorder], genetics [Adenylyl Cyclases], ddc, Mice, Inbred C57BL, Mania, Disease Models, Animal, genetics [Polymorphism, Single Nucleotide], Female, genetics [Mania], genetics [Bipolar Disorder], metabolism [Cyclic AMP], Adenylyl Cyclases

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39003412
https://repository.publisso.de/resource/frl:6501286
https://epub.ub.uni-muenchen.de/122972/
https://mediatum.ub.tum.de/doc/1770246/document.pdf

Platelets mirror changes in the frontal lobe antioxidant system in Alzheimer's disease

Autoři: Ercan, Huriye Reumiller, Christina Maria Mühlberger, Jacqueline a další

Zdroj: Alzheimers Dement

Témata: Blood Platelets, Male, Proteomics, Glutathione Transferase Metabolism, Alzheimer Disease Metabolism, Glutathione Peroxidase Metabolism, Alzheimer Disease Blood, Cognitive Dysfunction Blood, Superoxide Dismutase-1 Metabolism, Biomarkers Blood, Polymorphism, Single Nucleotide, Antioxidants, Superoxide Dismutase-1, Glutathione Peroxidase GPX1, Glutathione Peroxidase Blood, Alzheimer Disease, Polymorphism, Single Nucleotide Genetics, Humans, Cognitive Dysfunction, Aged, Glutathione Transferase, Aged, 80 and over, Glutathione Peroxidase, Superoxide Dismutase Metabolism, Blood Platelets Metabolism, Superoxide Dismutase, Cognitive Dysfunction Metabolism, Frontal Lobe Metabolism, Antioxidants Metabolism, Frontal Lobe, Alzheimer Disease Pathology, Female, Alzheimer Disease Genetics, Biomarkers, Research Article

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40189792
https://phaidra.vetmeduni.ac.at/o:4077
https://doi.org/10.1002/alz.70117

Diffusion imaging genomics provides novel insight into early mechanisms of cerebral small vessel disease

Autoři: Le Grand, Quentin Tsuchida, Ami Koch, Alexandra a další

Přispěvatelé: Le Grand, Quentin Tsuchida, Ami Koch, Alexandra a další

Zdroj: Mol Psychiatry
Molecular psychiatry 29(11), 3567-3579 (2024). doi:10.1038/s41380-024-02604-7

Témata: Male, Adult, Adolescent, metabolism [White Matter], [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, methods [Genome-Wide Association Study], Polymorphism, Single Nucleotide, methods [Diffusion Tensor Imaging], diagnostic imaging [White Matter], Article, Young Adult, 692/53, Aged, 80 and over [MeSH], Aged [MeSH], 59/57, Diffusion Magnetic Resonance Imaging/methods [MeSH], Polymorphism, Single Nucleotide/genetics [MeSH], Genome-Wide Association Study/methods [MeSH], Male [MeSH], White Matter/diagnostic imaging [MeSH], 45/43, Adolescent [MeSH], Female [MeSH], 631/208, Cerebral Small Vessel Diseases/genetics [MeSH], Adult [MeSH], Humans [MeSH], Neurites/metabolism [MeSH], Diffusion Tensor Imaging/methods [MeSH], Genomics/methods [MeSH], Middle Aged [MeSH], White Matter/metabolism [MeSH], Brain/metabolism [MeSH], Young Adult [MeSH], article, methods [Diffusion Magnetic Resonance Imaging], Neurites, Humans, ddc:610, Aged, Aged, 80 and over, methods [Genomics], Brain, metabolism [Neurites], Genomics, Middle Aged, White Matter, 3. Good health, Diffusion Tensor Imaging, Diffusion Magnetic Resonance Imaging, metabolism [Brain], Cerebral Small Vessel Diseases, genetics [Cerebral Small Vessel Diseases], genetics [Polymorphism, Single Nucleotide], Female, Genome-Wide Association Study

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38811690
https://pub.dzne.de/record/270140
https://repository.publisso.de/resource/frl:6517611

DNA methylation patterns of FKBP5 regulatory regions in brain and blood of humanized mice and humans

Autoři: Natan Yusupov Simone Roeh Laura Sotillos Elliott a další

Zdroj: Mol Psychiatry

Témata: Male, Adult, 0301 basic medicine, 0303 health sciences, Genotype, Brain, Prefrontal Cortex, Mice, Transgenic, DNA Methylation, Regulatory Sequences, Nucleic Acid, Middle Aged, Polymorphism, Single Nucleotide, Hippocampus, Article, Dexamethasone, Epigenesis, Genetic, Tacrolimus Binding Proteins, Mice, 03 medical and health sciences, Animals, Humans, Female, DNA Methylation/genetics [MeSH], Prefrontal Cortex/metabolism [MeSH], 692/699/476, Polymorphism, Single Nucleotide/genetics [MeSH], Mice, Transgenic [MeSH], Male [MeSH], 38/47, 64/110, Epigenesis, Genetic/genetics [MeSH], Hippocampus/metabolism [MeSH], 38/23, Female [MeSH], Adult [MeSH], Humans [MeSH], Middle Aged [MeSH], Animals [MeSH], Tacrolimus Binding Proteins/metabolism [MeSH], Mice [MeSH], Glucocorticoids/pharmacology [MeSH], Brain/metabolism [MeSH], Tacrolimus Binding Proteins/genetics [MeSH], Regulatory Sequences, Nucleic Acid/genetics [MeSH], Genotype [MeSH], 631/378, Dexamethasone/pharmacology [MeSH], article, Glucocorticoids

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38317011
https://repository.publisso.de/resource/frl:6504977

An ancient polymorphic regulatory region within the BDNF gene associated with obesity modulates anxiety-like behaviour in mice and humans

Autoři: Andrew R. McEwan Benjamin Hing Johanna C. Erickson a další

Přispěvatelé: Andrew R. McEwan Benjamin Hing Johanna C. Erickson a další

Zdroj: Mol Psychiatry

Témata: Male, 0301 basic medicine, Supplementary Information, Hypothalamus, R Medicine, Anxiety, Regulatory Sequences, Nucleic Acid, Polymorphism, Single Nucleotide, Article, COVID-19, 38/77, Mice, Inbred C57BL [MeSH], 96, Behavior, Animal/physiology [MeSH], 13, 42, Brain-Derived Neurotrophic Factor/metabolism [MeSH], Polymorphism, Single Nucleotide/genetics [MeSH], Obesity/metabolism [MeSH], Genome-Wide Association Study/methods [MeSH], Hypothalamus/metabolism [MeSH], Male [MeSH], COVID-19 [MeSH], Obesity/genetics [MeSH], Anxiety/genetics [MeSH], Genetic Predisposition to Disease/genetics [MeSH], 45, Female [MeSH], 631/208, Humans [MeSH], Animals [MeSH], 64/60, 692/699/476/1414, Anxiety/metabolism [MeSH], 13/44, Amygdala/metabolism [MeSH], Mice [MeSH], 82, 96/106, 59, Regulatory Sequences, Nucleic Acid/genetics [MeSH], Brain-Derived Neurotrophic Factor/genetics [MeSH], Alleles [MeSH], 64, 38, 14, article, Mice, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Animals, Humans, Genetic Predisposition to Disease, Obesity, BB/N017544/1, Alleles, 0303 health sciences, Behavior, Animal, Brain-Derived Neurotrophic Factor, Amygdala, Mice, Inbred C57BL, Biotechnology and Biological Sciences Research Council (BBSRC), Female, Genome-Wide Association Study

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38228888
https://repository.publisso.de/resource/frl:6518617

Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression

Autoři: Guintivano J Byrne EM Kiewa J a další

Zdroj: Guintivano, J, Byrne, E M, Kiewa, J, Yao, S, Bauer, A E, Aberg, K A, Adams, M J, Campbell, A, Campbell, M L, Choi, K W, Corfield, E C, Havdahl, A, Hucks, D, Koen, N, Lu, Y, Mægbæk, M L, Mullaert, J, Peterson, R E, Raffield, L M, Sallis, H M, Sealock, J M, Walker, A, Watson, H J, Xiong, Y, Yang, J M K, Anney, R J L, Gordon-Smith, K, Hubbard, L, Jones, L A, Mihaescu, R, Nyegaard, M, Pardiñas, A F, Perry, A, Saquib, N, Shadyab, A H, Viktorin, A, Andreassen, O A, Bigdeli, T B, Davis, L K, Dennis, C-L, Di Florio, A, Dubertret, C, Feng, Y-C A, Frey, B N, Grigoriadis, S, Gloaguen, E, Jones, I, Kennedy, J L, Krohn, H, Kunovac Kallak, T, Li, Y, Martin, N G, McIntosh, A M, Milgrom, J, Munk-Olsen, T, Oberlander, T, Olsen, C M, Ramoz, N, Reichborn-Kjennerud, T, Robertson Blackmore, E, Rubinow, D, Skalkidou, A, Smoller, J W, Stein, D J, Stowe, Z N, Taylor, V, Tebeka, S, Tesli, M, Van Lieshout, R J, van den Oord, E J C G, Vigod, S N, Werge, T, Westlye, L T, Whiteman, D C, Zar, H J, Wray, N, Meltzer-Brody, S, Sullivan, P & Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium 2023, 'Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression', The American Journal of Psychiatry, vol. 180, no. 12, pp. 884-895. https://doi.org/10.1176/appi.ajp.20230053
Guintivano, J, Byrne, E M, Kiewa, J, Yao, S, Bauer, A E, Aberg, K A, Adams, M J, Campbell, A, Campbell, M L, Choi, K W, Corfield, E C, Havdahl, A, Hucks, D, Koen, N, Lu, Y, Mægbæk, M L, Mullaert, J, Peterson, R E, Raffield, L M, Sallis, H M, Sealock, J M, Walker, A, Watson, H J, Xiong, Y, Yang, J M K, Anney, R J L, Gordon-Smith, K, Hubbard, L, Jones, L A, Mihaescu, R, Nyegaard, M, Pardiñas, A F, Perry, A, Saquib, N, Shadyab, A H, Viktorin, A, Andreassen, O A, Bigdeli, T B, Davis, L K, Dennis, C-L, Di Florio, A, Dubertret, C, Feng, Y-C A, Frey, B N, Grigoriadis, S, Gloaguen, E, Jones, I, Kennedy, J L, Krohn, H, Kunovac Kallak, T, Li, Y, Martin, N G, McIntosh, A M, Milgrom, J, Munk-Olsen, T, Oberlander, T, Olsen, C M, Ramoz, N, Reichborn-Kjennerud, T, Robertson Blackmore, E, Rubinow, D, Skalkidou, A, Smoller, J W, Stein, D J, Stowe, Z N, Taylor, V, Tebeka, S, Tesli, M, Van Lieshout, R J, van den Oord, E J C G, Vigod, S N, Werge, T, Westlye, L T, Whiteman, D C, Zar, H J, Wray, N, Meltzer-Brody, S, Sullivan, P & Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium 2023, ' Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression ', The American Journal of Psychiatry, vol. 180, no. 12, pp. 884-895 . https://doi.org/10.1176/appi.ajp.20230053
Guintivano, J, Byrne, E M, Kiewa, J, Yao, S, Bauer, A E, Aberg, K A, Adams, M J, Campbell, A, Campbell, M L, Choi, K W, Corfield, E C, Havdahl, A, Hucks, D, Koen, N, Lu, Y, Mægbæk, M L, Mullaert, J, Peterson, R E, Raffield, L M, Sallis, H M, Sealock, J M, Walker, A, Watson, H J, Xiong, Y, Yang, J M K, Anney, R J L, Gordon-Smith, K, Hubbard, L, Jones, L A, Mihaescu, R, Nyegaard, M, Pardiñas, A F, Perry, A, Saquib, N, Shadyab, A H, Viktorin, A, Andreassen, O A, Bigdeli, T B, Davis, L K, Dennis, C-L, Di Florio, A, Dubertret, C, Feng, Y-C A, Frey, B N, Grigoriadis, S, Gloaguen, E, Jones, I, Kennedy, J L, Krohn, H, Kallak, T K, Li, Y, Martin, N G, McIntosh, A M, Milgrom, J, Munk-Olsen, T, Oberlander, T, Olsen, C M, Ramoz, N, Reichborn-Kjennerud, T, Blackmore, E R, Rubinow, D, Skalkidou, A, Smoller, J W, Stein, D J, Stowe, Z N, Taylor, V, Tebeka, S, Tesli, M, Van Lieshout, R J, van den Oord, E J C G, Vigod, S N, Werge, T, Westlye, L T, Whiteman, D C, Zar, H J, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Wray, N, Meltzer-Brody, S & Sullivan, P 2023, ' Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression ', The American Journal of Psychiatry, vol. 180, no. 12, pp. 884-895 . https://doi.org/10.1176/appi.ajp.20230053
Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium 2023, 'Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression', The American Journal of Psychiatry (Spanish Edition), vol. 180, no. 12, pp. 884-895. https://doi.org/10.1176/appi.ajp.20230053
American Journal of Psychiatry

Témata: Depressive Disorder, Depressive Disorder, Major, Bipolar Disorder, Depression, Bipolar Disorder/genetics, Major/genetics, Polymorphism, Single Nucleotide/genetics, Polymorphism, Single Nucleotide, 3. Good health, Depression, Postpartum, Mice, Depression, Postpartum/genetics, Humans, Animals, Female, Genetic Predisposition to Disease, Polymorphism, Depressive Disorder, Major/genetics, Single Nucleotide/genetics, Postpartum/genetics, Genome-Wide Association Study

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37849304
https://vbn.aau.dk/ws/files/748913695/ppd_gwas_20230627_2_.pdf
https://doi.org/10.1176/appi.ajp.20230053
https://vbn.aau.dk/da/publications/feb2ef31-4d1d-459c-94c3-26351d1659ec
https://curis.ku.dk/ws/files/385232389/ppd_gwas_20230627_2_.pdf
https://pure.au.dk/portal/en/publications/0523c611-f9ce-4b87-af4a-d7b181601cae
https://doi.org/10.1176/appi.ajp.20230053
https://pmc.ncbi.nlm.nih.gov/articles/PMC11163373/pdf/nihms-1987810.pdf
https://publications.scilifelab.se/publication/81b93732cab9499a9aa99d87d2b3d294

Enhanced genetic fine mapping accuracy with Bayesian Linear Regression models in diverse genetic architectures

Autoři: Merina Shrestha Zhonghao Bai Tahereh Gholipourshahraki a další

Zdroj: Shrestha, M, Bai, Z, Gholipourshahraki, T, Hjelholt, A J, Hu, S, Kjolby, M, Rohde, P D & Sørensen, P 2025, 'Enhanced genetic fine mapping accuracy with Bayesian Linear Regression models in diverse genetic architectures', PLOS Genetics, vol. 21, no. 7, e1011783, pp. e1011783. https://doi.org/10.1371/journal.pgen.1011783
Shrestha, M, Bai, Z, Gholipourshahraki, T, Hjelholt, A J, Hu, S, Kjolby, M, Rohde, P D & Sørensen, P 2025, 'Enhanced genetic fine mapping accuracy with Bayesian Linear Regression models in diverse genetic architectures', PLOS Genetics, vol. 21, no. 7, e1011783. https://doi.org/10.1371/journal.pgen.1011783

Témata: Phenotype, Models, Genetic, Genome-Wide Association Study/methods, Linear Models, Humans, Bayes Theorem, Computer Simulation, Chromosome Mapping/methods, Polymorphism, Single Nucleotide/genetics, Quantitative Trait Loci/genetics, Multifactorial Inheritance/genetics

Popis souboru: application/pdf

Přístupová URL adresa: https://vbn.aau.dk/da/publications/fd6df624-df6f-4a02-be00-225d1aaf18b6
https://vbn.aau.dk/ws/files/790405434/journal.pgen.1011783.pdf
http://www.scopus.com/inward/record.url?scp=105013156979&partnerID=8YFLogxK
https://doi.org/10.1371/journal.pgen.1011783
https://pure.au.dk/portal/en/publications/fe973afe-9c70-4298-87d1-b6687343d954
https://doi.org/10.1371/journal.pgen.1011783

Two-sample Mendelian Randomization to evaluate the causal relationship between inflammatory arthritis and female-specific cancers

Autoři: Christa Meisinger Simone Fischer Tracy O’Mara a další

Zdroj: J Transl Med
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-9 (2024)

Témata: Inflammation, Ovarian Neoplasms, ddc:610, Research, Arthritis, Arthritis, Psoriatic, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide, Arthritis, Rheumatoid, Causality, Breast cancer, Ovarian cancer, Risk Factors, Psoriatic arthritis, Autoimmune disease, Mendelian randomization, Medicine, Humans, Female, Genetic Predisposition to Disease, Genetic Predisposition to Disease [MeSH], Arthritis/genetics [MeSH], Female [MeSH], Humans [MeSH], Rheumatoid arthritis, Risk Factors [MeSH], Polymorphism, Single Nucleotide/genetics [MeSH], Arthritis, Psoriatic/genetics [MeSH], Arthritis, Rheumatoid/genetics [MeSH], Ankylosing spondylitis, Inflammation/genetics [MeSH], Ovarian Neoplasms/genetics [MeSH], Arthritis/complications [MeSH], Causality [MeSH], Computational Modelling and Epidemiology, Mendelian Randomization Analysis [MeSH], Arthritis, Rheumatoid/complications [MeSH]

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39449068
https://doaj.org/article/1fd72f1761a24a729201d9ebf46c70ce
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1165276
https://opus.bibliothek.uni-augsburg.de/opus4/files/116527/s12967-024-05765-9.pdf
https://doi.org/10.1186/s12967-024-05765-9
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/116527
https://repository.publisso.de/resource/frl:6521067

Peripartum depression symptom trajectories, telomere length and genotype, and adverse childhood experiences

Autoři: Vrettou, Maria Lager, Susanne Toffoletto, Simone a další

Zdroj: BMC Psychiatry
BMC Psychiatry, Vol 24, Iss 1, Pp 1-9 (2024)

Témata: Adult, Genotype, TERT, RC435-571, Polymorphism, Single Nucleotide, Psykiatri, Depression, Postpartum, Adverse Childhood Experiences, Pregnancy, Peripartum Period, Gynaecology, Obstetrics and Reproductive Medicine, Humans, Gynekologi, obstetrik och reproduktionsmedicin, Telomerase, Telomere Shortening, Psychiatry, Telomere length, Peripartum depression, Depression, Research, Adverse childhood experience, Telomere, Pregnancy Complications, Female [MeSH], Telomerase/genetics [MeSH], Adult [MeSH], Humans [MeSH], Telomere Shortening/genetics [MeSH], Adverse Childhood Experiences [MeSH], Polymorphism, Single Nucleotide/genetics [MeSH], Depression/genetics [MeSH], Peripartum Period/genetics [MeSH], RNA/genetics [MeSH], Pregnancy Complications/genetics [MeSH], Genotype [MeSH], Telomere/genetics [MeSH], Depression, Postpartum/genetics [MeSH], Pregnancy [MeSH], RNA, Female

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39379870
https://doaj.org/article/d9de4e49b6b842e9aae605cd842967c2
https://repository.publisso.de/resource/frl:6501342
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-208671
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-541292

No evidence for a causal contribution of bioavailable testosterone to ADHD in sex-combined and sex-specific two-sample Mendelian randomization studies

Autoři: Dinkelbach, Lars Peters, Triinu Grasemann, Corinna a další

Zdroj: Eur Child Adolesc Psychiatry

Témata: ADHD, Female [MeSH], Mendelian randomization, Adult [MeSH], Humans [MeSH], Testosterone/blood [MeSH], Middle Aged [MeSH], Sex effects, Attention Deficit Disorder with Hyperactivity/genetics [MeSH], Polymorphism, Single Nucleotide/genetics [MeSH], Genome-Wide Association Study [MeSH], United Kingdom/epidemiology [MeSH], Male [MeSH], Original Contribution, Testosterone, Mendelian Randomization Analysis [MeSH], Sex Factors [MeSH], Male, Adult, 0301 basic medicine, 0303 health sciences, Medizin, Mendelian Randomization Analysis, Middle Aged, Polymorphism, Single Nucleotide, United Kingdom, 03 medical and health sciences, Sex Factors, Attention Deficit Disorder with Hyperactivity, Humans, Female, Genome-Wide Association Study

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38536491
https://repository.publisso.de/resource/frl:6497221

Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability: why and when out-of-sample prediction R2 can exceed SNP-based heritability

Autoři: Xiaotong Wang Alicia Walker Joana A. Revez a další

Zdroj: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium 2023, 'Polygenic risk prediction : why and when out-of-sample prediction R2 can exceed SNP-based heritability', American journal of human genetics, vol. 110, no. 7, pp. 1207-1215. https://doi.org/10.1016/j.ajhg.2023.06.006
Wang, X, Walker, A, Revez, J A, Ni, G, Adams, M J, McIntosh, A M & Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium 2023, 'Polygenic risk prediction : why and when out-of-sample prediction R 2 can exceed SNP-based heritability', American Journal of Human Genetics, vol. 110, no. 7, pp. 1207-1215. https://doi.org/10.1016/j.ajhg.2023.06.006

Témata: meta-analysis, polygenic risk prediction, SNP-based heritability, Multifactorial Inheritance, Phenotype, out-of-sample prediction R, Humans, Computer Simulation, Polymorphism, Single Nucleotide/genetics, Multifactorial Inheritance/genetics, Polymorphism, Single Nucleotide, Genome-Wide Association Study

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37379836
https://research.vumc.nl/en/publications/32175ad7-0c42-4648-83ca-28051afb84e6
https://pure.amsterdamumc.nl/en/publications/7fcb7e14-8335-4630-a61e-ccdbf5480147
https://doi.org/10.1016/j.ajhg.2023.06.006
https://pure.au.dk/portal/en/publications/3554a23a-4eac-4827-898b-689748b1876f
https://doi.org/10.1016/j.ajhg.2023.06.006
http://www.scopus.com/inward/record.url?scp=85164270154&partnerID=8YFLogxK
https://pmc.ncbi.nlm.nih.gov/articles/PMC10357496/pdf/main.pdf

Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the 'omnigenic' sparse effector hypothesis of complex trait genetics

Autoři: Andrii Iakovliev Stuart J. McGurnaghan Caroline Hayward a další

Zdroj: Am J Hum Genet
Iakovliev, A, McGurnaghan, S J, Hayward, C, Colombo, M, Lipschutz, D, Spiliopoulou, A, Colhoun, H M & McKeigue, P M 2023, ' Genome-wide aggregated trans-effects on risk of type 1 diabetes : A test of the "omnigenic" sparse effector hypothesis of complex trait genetics ', American Journal of Human Genetics, vol. 110, no. 6, pp. 913-926 . https://doi.org/10.1016/j.ajhg.2023.04.003

Témata: Multifactorial Inheritance, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 1/genetics, Quantitative Trait Loci, Humans, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide/genetics, Quantitative Trait Loci/genetics, Polymorphism, Single Nucleotide, Article, 3. Good health

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37164005
https://www.pure.ed.ac.uk/ws/files/362098270/PIIS0002929723001271.pdf
https://hdl.handle.net/20.500.11820/b4d8fc82-0de5-4975-8ff7-fab5c10e5fd5