Suchergebnisse - "info:eu-repo/classification/ddc/576.5"

Adult Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation

Autoren: Scheen, Marc Arnoux, Grégoire Khau Van Kien, Philippe et al.

Quelle: ISSN: 2590-0595 ; Kidney medicine, vol. 7, no. 11 (2025) 101114.

Schlagwörter: info:eu-repo/classification/ddc/616, info:eu-repo/classification/ddc/616.07, info:eu-repo/classification/ddc/576.5, FSGS, NUP93, Genetics, Nephrotic syndrome, Optic nerve atrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/41209161; unige:188978

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:188978

Resilience in Alzheimer's disease: Impact of operationalization and methodological choices

Autoren: Mutel, Sophie Quatrocchi, Lara Altomare, Daniele et al.

Quelle: ISSN: 1552-5260 ; Alzheimer's & dementia, vol. 21, no. 4 (2025) e70185.

Schlagwörter: info:eu-repo/classification/ddc/616.8, info:eu-repo/classification/ddc/616.0757, info:eu-repo/classification/ddc/618.97, info:eu-repo/classification/ddc/576.5, Alzheimer's disease resilience, Brain resilience, Cognitive decline, Cognitive resilience, Residual approach, Residual correction methods, Risk factors

Relation: info:eu-repo/semantics/altIdentifier/pmid/40289834; info:eu-repo/grantAgreement/EC/H2020/667375/EU/Common mechanisms and pathways in Stroke and Alzheimer's disease./CoSTREAM; info:eu-repo/grantAgreement/EC/HE/101053962/EU/Fluid Biomarkers for Neurodegenerative Dementias/FLUBIODEM; info:eu-repo/grantAgreement/EC/H2020/860197/EU/Multi-omics Interdisciplinary Research Integration to Address DEmentia diagnosis/MIRIADE; unige:185031

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:185031

Verbal narrative ability and episodic autobiographical memory in adolescents and young adults with 22q11.2 deletion syndrome

Autoren: Mayor, Claire Husmann, Julie Laura Marie Benaghmouch, Selma et al.

Quelle: ISSN: 1866-1947 ; Journal of neurodevelopmental disorders, vol. 17, no. 1 (2025) 17.

Schlagwörter: info:eu-repo/classification/ddc/616.89, info:eu-repo/classification/ddc/150, info:eu-repo/classification/ddc/576.5, Adolescent, Adult, DiGeorge Syndrome / complications, DiGeorge Syndrome / physiopathology, Female, Humans, Magnetic Resonance Imaging, Male, Memory, Episodic, Mental Recall / physiology, Narration, Neuropsychological Tests, Young Adult

Relation: info:eu-repo/semantics/altIdentifier/pmid/40158074; unige:184667

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:184667

Congenital fibrinogen deficiencies : not so rare

Autoren: Couzens, Alexander James Neerman Arbez, Marguerite

Quelle: ISSN: 0720-9355 ; Hämostaseologie, (2025.

Schlagwörter: info:eu-repo/classification/ddc/590, info:eu-repo/classification/ddc/576.5, Fibrinogen, Fibrin, Bleeding, Prevalence

Relation: info:eu-repo/semantics/altIdentifier/pmid/40074015; unige:184315

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:184315

Hepatic IR and IGF1R signaling govern distinct metabolic and carcinogenic processes upon PTEN deficiency in the liver

Autoren: Gjorgjieva Ducros, Monika Calo, Nicolas Virgile Sobolewski, Cyril et al.

Quelle: ISSN: 2589-5559 ; JHEP reports, vol. 7, no. 4 (2025) 101305.

Schlagwörter: info:eu-repo/classification/ddc/612, info:eu-repo/classification/ddc/616.0757, info:eu-repo/classification/ddc/576.5, Hepatic metabolism, Hepatocarcinogenesis, Insulin receptor, IGF-1 receptor, Steatosis

Relation: info:eu-repo/semantics/dataset/url/https://doi.org/10.26037/yareta:zwyyaxdj3zc3hfo3hykxvwmt6q; unige:183582

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:183582

CRISPR screen decodes SWI/SNF chromatin remodeling complex assembly

Autoren: Schwaemmle, Hanna Soldati, Hadrien Lykoskoufis, Nikolaos Michail Rafail et al.

Quelle: ISSN: 2041-1723 ; Nature communications, vol. 16, no. 1 (2025) 5011.

Schlagwörter: info:eu-repo/classification/ddc/590, info:eu-repo/classification/ddc/576.5, Animals, Mice, Chromatin Assembly and Disassembly / genetics, Chromosomal Proteins, Non-Histone / metabolism, Non-Histone / genetics, Transcription Factors / metabolism, Transcription Factors / genetics, Chromatin / metabolism, Chromatin / genetics, RNA-Binding Proteins / metabolism, RNA-Binding Proteins / genetics, Mouse Embryonic Stem Cells / metabolism, CRISPR-Cas Systems, Humans, Clustered Regularly Interspaced Short Palindromic Repeats

Relation: info:eu-repo/semantics/altIdentifier/pmid/40447637; info:eu-repo/semantics/dataset/url/https://github.com/NLykoskoufis/BraunLabPipeline; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE268206; info:eu-repo/semantics/dataset/url/https://www.ebi.ac.uk/pride/archive/projects/PXD054392; info:eu-repo/semantics/dataset/url/https://www.ebi.ac.uk/pride/archive/projects/PXD061408; unige:188849

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:188849

Case report : desmoplakin cardiomyopathy presenting as an inflammatory cardiomyopathy with repeated sudden cardiac arrests

Autoren: Massie, Emmanuelle Dominati, Arnaud Suchet, Sebastian et al.

Quelle: ISSN: 2514-2119 ; European heart journal. Case reports, vol. 8, no. 4 (2024) ytae160.

Schlagwörter: info:eu-repo/classification/ddc/616, info:eu-repo/classification/ddc/576.5, Arrhythmia, Cardiomyopathy, Case report, Desmoplakin, Inflammation, Sudden cardiac death

Relation: info:eu-repo/semantics/altIdentifier/pmid/38887779; unige:188788

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:188788

Loneliness in daily life : A comparison between youths with autism spectrum disorders and 22q11.2 deletion syndrome ( 22q11DS )

Autoren: Feller, Clémence Ilen, Laura Eliez, Stéphan et al.

Quelle: ISSN: 1939-3806 ; Autism research, vol. 17, no. 10 (2024) p. 2004-2017.

Schlagwörter: info:eu-repo/classification/ddc/616.89, info:eu-repo/classification/ddc/150, info:eu-repo/classification/ddc/576.5, Attitude toward aloneness, Ecological momentary assessment, Emotional reactivity, Mental health, Neurodevelopmental disorders, State loneliness, Trait loneliness

Relation: info:eu-repo/semantics/altIdentifier/pmid/38828648; info:eu-repo/semantics/dataset/url/https://yareta.unige.ch/archives/24838a5f-59ca-4694-8710-1e46e830fa89; info:eu-repo/semantics/dataset/url/https://osf.io/3yuhm; unige:183691

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:183691

Safety and feasibility of home-based transcranial alternating current stimulation in youths with 22q11.2 deletion syndrome

Autoren: Latreche, Caren Mancini, Valentina Mcginn, Nova L et al.

Quelle: ISSN: 1662-453X ; Frontiers in neuroscience, vol. 18 (2024) 1453839.

Schlagwörter: info:eu-repo/classification/ddc/616.89, info:eu-repo/classification/ddc/616.8, info:eu-repo/classification/ddc/150, info:eu-repo/classification/ddc/576.5, 22q11 deletion syndrome, Neurodevelopmental disorders, Non-invasive brain stimulation, Safety and feasibility, Transcranial alternating current stimulation (tACS)

Relation: info:eu-repo/semantics/altIdentifier/pmid/39513044; unige:183692

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:183692

Alterations of lipid homeostasis in morbid obese patients are partly reversed by bariatric surgery

Autoren: Sinturel, Flore Chera, Simona Brulhart-Meynet, Marie-Claude et al.

Quelle: ISSN: 2589-0042 ; iScience, vol. 27, no. 9 (2024) 110820.

Schlagwörter: info:eu-repo/classification/ddc/540, info:eu-repo/classification/ddc/612, info:eu-repo/classification/ddc/616, info:eu-repo/classification/ddc/617, info:eu-repo/classification/ddc/576.5, Health sciences, Lipidomics, Medicine

Relation: info:eu-repo/semantics/altIdentifier/pmid/39297163; unige:183104

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:183104

Multi-omics correlates of insulin resistance and circadian parameters mapped directly from human serum

Autoren: Du, Ngoc-Hien Sinturel, Flore Nowak, Nora et al.

Quelle: ISSN: 0953-816X ; EJN. European journal of neuroscience, vol. 60, no. 7 (2024) p. 5487-5504.

Schlagwörter: info:eu-repo/classification/ddc/612, info:eu-repo/classification/ddc/613, info:eu-repo/classification/ddc/616, info:eu-repo/classification/ddc/617, info:eu-repo/classification/ddc/576.5, GWAS, Circadian rhythms, Insulin resistance, Obesity and type 2 diabetes, Serum metabolomics, Humans, Insulin Resistance / physiology, Circadian Rhythm / physiology, Male, Diabetes Mellitus, Type 2 / blood, Type 2 / genetics, Type 2 / metabolism, Female, Genome-Wide Association Study, Middle Aged, Metabolomics / methods, Cell Line, Tumor, Ubiquitin-Protein Ligases / genetics, Ubiquitin-Protein Ligases / metabolism, Obesity / blood, Obesity / genetics, Adult, Multiomics

Relation: info:eu-repo/semantics/altIdentifier/pmid/39205434; info:eu-repo/semantics/dataset/url/https://doi.org/10.5281/zenodo.10598274; info:eu-repo/semantics/dataset/url/https://doi.org/10.5281/zenodo.10605035; unige:183103

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:183103

Human primary cells can tell body time: Dedicated to Steven A. Brown

Autoren: Katsioudi, Georgia Biancolin, Andrew Jiménez-Sánchez, Cecilia et al.

Quelle: ISSN: 0953-816X ; EJN. European journal of neuroscience, vol. 60, no. 2 (2024) p. 3946-3960.

Schlagwörter: info:eu-repo/classification/ddc/612, info:eu-repo/classification/ddc/616, info:eu-repo/classification/ddc/617, info:eu-repo/classification/ddc/576.5, Steven A. Brown, Circadian bioluminescence, Circadian clockwork, Human diseases, Human primary skin fibroblasts, Humans, Circadian Clocks / physiology, Animals, Circadian Rhythm / physiology, History, Cells, Cultured

Time: 21st Century, 20th Century

Relation: info:eu-repo/semantics/altIdentifier/pmid/38951126; unige:183098

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:183098

Moderate beta-cell ablation triggers synergic compensatory mechanisms even in the absence of overt metabolic disruption

Autoren: Mathisen, Andreas Frøslev Larsen, Ulrik Kavli, Natalie et al.

Quelle: ISSN: 2399-3642 ; Communications biology, vol. 7, no. 1 (2024) 833.

Schlagwörter: info:eu-repo/classification/ddc/576.5, Animals, Cell Proliferation, Diet, High-Fat / adverse effects, Inflammation / metabolism, Inflammation / pathology, Insulin-Secreting Cells / metabolism, Insulin-Secreting Cells / physiology, Male, Mice, Inbred C57BL, Regeneration

Relation: info:eu-repo/semantics/altIdentifier/pmid/38982170; unige:182346

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:182346

A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival

Autoren: Abassah-Oppong, Samuel Zoia, Matteo Mannion, Brandon J et al.

Quelle: ISSN: 2041-1723 ; Nature communications, vol. 15, no. 1 (2024) 8793.

Schlagwörter: info:eu-repo/classification/ddc/590, info:eu-repo/classification/ddc/570, info:eu-repo/classification/ddc/576.5, Animals, Enhancer Elements, Genetic, Gene Expression Regulation, Developmental, Homeodomain Proteins / genetics, Homeodomain Proteins / metabolism, Humans, Mice, Morphogenesis

Relation: info:eu-repo/semantics/altIdentifier/pmid/39389973; unige:181226

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:181226

Pre-hypertrophic chondrogenic enhancer landscape of limb and axial skeleton development

Autoren: Darbellay, Fabrice Ramisch, Anna Lopez-Delisle, Lucille et al.

Quelle: ISSN: 2041-1723 ; Nature communications, vol. 15, no. 1 (2024) 4820.

Schlagwörter: info:eu-repo/classification/ddc/616.8, info:eu-repo/classification/ddc/590, info:eu-repo/classification/ddc/576.5, Animals, Bone Development / genetics, Cell Differentiation / genetics, Chondrocytes / cytology, Chondrocytes / metabolism, Chondrogenesis / genetics, Collagen Type II / genetics, Collagen Type II / metabolism, Enhancer Elements, Genetic / genetics, Extremities / embryology, Female, Gene Expression Regulation, Developmental, Humans, Male, Mice, Receptor, Fibroblast Growth Factor, Type 3 / genetics, Type 3 / metabolism, Transcription Factors / genetics, Transcription Factors / metabolism

Relation: info:eu-repo/semantics/altIdentifier/pmid/38844479; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE230235; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=DRX028798; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE164738; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14305872; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14305873; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14305249; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14305250; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14305866; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14305867; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14306149; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14306150; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14306037; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/sra/?term=SRR14306038; info:eu-repo/semantics/dataset/url/https://zenodo.org/records/7837436; unige:181204

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:181204

Enhancing fetal outcomes in GCK-MODY pregnancies : a precision medicine approach via non-invasive prenatal GCK mutation detection

Autoren: Schwitzgebel Luscher, Valérie Blouin, Jean-Louis Dehos, Barbara et al.

Quelle: ISSN: 2296-858X ; Frontiers in medicine, vol. 11 (2024) 1347290.

Schlagwörter: info:eu-repo/classification/ddc/616, info:eu-repo/classification/ddc/618, info:eu-repo/classification/ddc/576.5, GCK-MODY, Non-invasive prenatal diagnosis, Cell-free circulating DNA, Fetal DNA, Glucokinase, In utero therapy, Monogenic diabetes, Personalized medicine

Relation: info:eu-repo/semantics/altIdentifier/pmid/38745742; info:eu-repo/semantics/dataset/url/https://www.ncbi.nlm.nih.gov/bioproject/PRJNA1048410; unige:180185

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:180185

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

Autoren: Muroňová, Jana Kherraf, Zine Eddine Giordani, Elsa et al.

Quelle: ISSN: 2050-084X ; eLife, vol. 12 (2024) RP86845.

Schlagwörter: info:eu-repo/classification/ddc/570, info:eu-repo/classification/ddc/576.5, Cell biology, Flagellum, Genetics, Genomics, Human, Infertility, Mouse, Sperm

Relation: info:eu-repo/semantics/altIdentifier/pmid/38441556; unige:180047

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:180047

Longitudinal Analysis of Brain Function-Structure Dependencies in 22q11.2 Deletion Syndrome and Psychotic Symptoms

Autoren: Forrer, Silas Delavari, Farnaz Sandini, Corrado et al.

Quelle: ISSN: 2451-9022 ; Biological psychiatry. Cognitive neuroscience and neuroimaging, (2024) S2451-9022(24)00141-1.

Schlagwörter: info:eu-repo/classification/ddc/616.89, info:eu-repo/classification/ddc/616.0757, info:eu-repo/classification/ddc/150, info:eu-repo/classification/ddc/576.5, 22q11 deletion syndrome, Function-structure dependency, Graph signal processing, Psychosis, DMRI, FMRI

Relation: info:eu-repo/semantics/altIdentifier/pmid/38849032; unige:179536

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:179536

Highly thrombogenic phenotype and impaired wound healing in a patient with congenital dysfibrinogenemia : case report

Autoren: El Beayni, Nancy Szanto, Timea Neerman Arbez, Marguerite et al.

Quelle: ISSN: 2475-0379 ; Research and practice in thrombosis and haemostasis, vol. 8, no. 4 (2024) 102469.

Schlagwörter: info:eu-repo/classification/ddc/616, info:eu-repo/classification/ddc/576.5, Congenital fibrinogen disorders, Fibrinogen, Fibrinolysis, Lipoprotein a, Thrombogenesis, Thrombosis, Wound healing

Relation: info:eu-repo/semantics/altIdentifier/pmid/39036671; unige:179495

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:179495

Comparison of plasma and neuroimaging biomarkers to predict cognitive decline in non-demented memory clinic patients

Autoren: Martins Mendes, Augusto José Ribaldi, Federica Lathuilière, Aurélien et al.

Quelle: ISSN: 1758-9193 ; Alzheimer's research & therapy, vol. 16, no. 1 (2024) 110.

Schlagwörter: info:eu-repo/classification/ddc/616.8, info:eu-repo/classification/ddc/616.0757, info:eu-repo/classification/ddc/618.97, info:eu-repo/classification/ddc/576.5, Humans, Male, Female, Biomarkers / blood, Cognitive Dysfunction / blood, Cognitive Dysfunction / diagnostic imaging, Aged, Tau Proteins / blood, Amyloid beta-Peptides / blood, Positron-Emission Tomography, Middle Aged, Neuroimaging / methods, Neurofilament Proteins / blood, Hippocampus / diagnostic imaging, Hippocampus / pathology, Peptide Fragments / blood, Glial Fibrillary Acidic Protein / blood

Relation: info:eu-repo/semantics/altIdentifier/pmid/38755703; unige:177933

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:177933