Výsledky vyhľadávania - "chronic - genetics"

Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin

Autori: Amber de Haan Mark Eijgelsheim Liffert Vogt a ďalší

Zdroj: Nephrology Dialysis Transplantation. 40:1225-1233

Predmety: Male, Adult, High-Throughput Nucleotide Sequencing, Middle Aged, Prognosis, Chronic/genetics, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Humans, Female, Prospective Studies, Renal Insufficiency, Genetic Testing/methods, Netherlands, Glomerular Filtration Rate, Follow-Up Studies

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39562282
https://pure.eur.nl/en/publications/4e3e1bd2-aef0-4a02-8fa8-b27212286aa2
https://doi.org/10.1093/ndt/gfae270

Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort: insights from a large national cohort

Autori: Baruch Wolach Ronit Gavrieli Ofir Wolach a ďalší

Zdroj: Blood. 144:1300-1313

Predmety: Male, Adult, 0301 basic medicine, Adolescent, Neutrophils, Granulomatous Disease, Chronic, Chronic/genetics, Cohort Studies, Young Adult, 03 medical and health sciences, Humans, Israel, Preschool, Child, Israel/epidemiology, Genetic Association Studies, Neutrophils/pathology, 0303 health sciences, NADPH Oxidases/genetics, Hematopoietic Stem Cell Transplantation, Infant, NADPH Oxidases, 3. Good health, Child, Preschool, Mutation, Female, Granulomatous Disease

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38905634
https://pure.amsterdamumc.nl/en/publications/0fef6f9f-bced-4319-b5c5-243bded21b53
https://doi.org/10.1182/blood.2023022590

Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation

Autori: Zhi Ming Xu Gnimah Eva Gnouamozi Sina Rüeger a ďalší

Prispievatelia: Zhi Ming Xu Gnimah Eva Gnouamozi Sina Rüeger a ďalší

Zdroj: Am J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
American journal of human genetics, vol. 111, no. 6, pp. 1018-1034

Predmety: Hepatitis B virus, Other subheadings::Other subheadings::Other subheadings::/genetics, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::genoma microbiano::genoma viral, PHENOMENA AND PROCESSES::Microbiological Phenomena::Host-Pathogen Interactions, Virus de l'hepatitis B - Aspectes genètics, Epitopes, T-Lymphocyte, Organic Anion Transporters, Sodium-Dependent, Genome, Viral, Article, Hepatitis B, Chronic, Microorganismes patògens, ORGANISMOS::virus::virus ADN::Hepadnaviridae::Orthohepadnavirus::virus de la hepatitis B, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, Hepatitis B virus/genetics, Organic Anion Transporters, Sodium-Dependent/genetics, Organic Anion Transporters, Sodium-Dependent/metabolism, Symporters/genetics, Symporters/metabolism, Mutation, Host-Pathogen Interactions/genetics, Host-Pathogen Interactions/immunology, Hepatitis B, Chronic/virology, Hepatitis B, Chronic/genetics, Hepatitis B Surface Antigens/genetics, Epitopes, T-Lymphocyte/genetics, Epitopes, T-Lymphocyte/immunology, Genomics/methods, Histocompatibility Antigens Class I/genetics, Histocompatibility Antigens Class I/metabolism, HBV entry, escape variants, evolutionary genomics, hepatitis B virus, host-pathogen genomics, immunogenetics, selection, viral restriction, ORGANISMS::Viruses::DNA Viruses::Hepadnaviridae::Orthohepadnavirus::Hepatitis B virus, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Hepatitis B Surface Antigens, Symporters, Histocompatibility Antigens Class I, Genomes bacterians, Genomics, 3. Good health, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome, Microbial::Genome, Viral, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, FENÓMENOS Y PROCESOS::fenómenos microbiológicos::interacciones huésped-patógeno, Host-Pathogen Interactions

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38749427
https://hdl.handle.net/11351/11578
https://serval.unil.ch/resource/serval:BIB_9CF13B4886CA.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9CF13B4886CA4
https://serval.unil.ch/notice/serval:BIB_9CF13B4886CA

Prognostic and therapeutic implications of TP53 expression in chronic myelomonocytic leukemia

Autori: Yu-Hung Wang Chien-Chin Lin Kristian Gurashi a ďalší

Zdroj: Blood Cancer J
Blood Cancer Journal, Vol 14, Iss 1, Pp 1-6 (2024)
Wang, Y-H, Lin, C-C, Gurashi, K, Yao, C-Y, Jerez, A, Hou, H-A, Chou, W-C, Tien, H-F, Batta, K & Wiseman, D H 2024, 'Prognostic and therapeutic implications of TP53 expression in chronic myelomonocytic leukemia', Blood cancer journal, vol. 14, no. 1, pp. 112. https://doi.org/10.1038/s41408-024-01087-7

Predmety: Male, Aged, 80 and over, Leukemia, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Leukemia, Myelomonocytic, Chronic, Myelomonocytic, Middle Aged, Prognosis, Chronic/genetics, Correspondence, 80 and over, Leukemia, Myelomonocytic, Chronic/genetics, Humans, Tumor Suppressor Protein p53/genetics, Female, Tumor Suppressor Protein p53, RC254-282, Aged

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38997261
https://doaj.org/article/730d319651754b01ab9d6804f2c979d4

Variation in the prion protein gene (PRNP) open reading frame sequence in French cervids

Autori: Laubier, Johann van de Wiele, Anne Barboiron, Aurélie a ďalší

Prispievatelia: Laubier, Johann van de Wiele, Anne Barboiron, Aurélie a ďalší

Zdroj: Vet Res
Veterinary Research, Vol 55, Iss 1, Pp 1-14 (2024)

Predmety: Polymorphism, Genetic, CWD, Prions, [SDV]Life Sciences [q-bio], Wasting Disease, Chronic/genetics [MeSH], Prion Proteins/genetics [MeSH], France, Open Reading Frames [MeSH], Deer [MeSH], red deer, Prions/genetics [MeSH], Animals [MeSH], France [MeSH], Polymorphism, Genetic [MeSH], roe deer, Research Article, polymorphism, Veterinary medicine, Deer, Prion Proteins, [SDV] Life Sciences [q-bio], Open Reading Frames, SF600-1100, Animals, Wasting Disease, Chronic, PRNP

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39227993
https://doaj.org/article/d6f18d27740f45e5b27dd81a0318ad5e
https://repository.publisso.de/resource/frl:6519897
https://hal.inrae.fr/hal-04687144v1
https://hal.inrae.fr/hal-04687144v1/document
https://doi.org/10.1186/s13567-024-01362-2

Prion protein gene (PRNP) variation in German and Danish cervids

Autori: Ernst, Sonja Piestrzyńska-Kajtoch, Agata Gethmann, Jörn a ďalší

Prispievatelia: Ernst, Sonja Piestrzyńska-Kajtoch, Agata Gethmann, Jörn a ďalší

Zdroj: Vet Res
Veterinary Research, Vol 55, Iss 1, Pp 1-17 (2024)

Predmety: 0301 basic medicine, cervid, Genotype, Prions, [SDV]Life Sciences [q-bio], red deer, genotype, Veterinary medicine, Denmark, sika deer, Prion Proteins, polymorphism, 03 medical and health sciences, Germany, SF600-1100, Animals, roe deer, 0303 health sciences, Polymorphism, Genetic, Deer, Denmark [MeSH], Wasting Disease, Chronic/genetics [MeSH], deer, Deer/genetics [MeSH], Prion Proteins/genetics [MeSH], Chronic wasting disease, Wasting Disease, Chronic/epidemiology [MeSH], Prions/genetics [MeSH], Animals [MeSH], Germany/epidemiology [MeSH], Polymorphism, Genetic [MeSH], Genotype [MeSH], Genetic Variation [MeSH], Research Article, fallow deer, Genetic Variation, [SDV] Life Sciences [q-bio], Wasting Disease, Chronic, PRNP

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39095901
https://doaj.org/article/e948b18743cb4d5abc36dd15412c251c
https://repository.publisso.de/resource/frl:6509177
https://hal.science/hal-04667534v1
https://hal.science/hal-04667534v1/document
https://doi.org/10.1186/s13567-024-01340-8

Genetic variants affecting mitochondrial function provide further insights for kidney disease

Autori: Cañadas-Garre, Marisa Baños-Jaime, Blanca Maqueda, Joaquin a ďalší

Prispievatelia: Cañadas-Garre, Marisa Baños-Jaime, Blanca Maqueda, Joaquin a ďalší

Zdroj: BMC Genomics
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
BMC Genomics, Vol 25, Iss 1, Pp 1-20 (2024)
Cañadas-Garre, M, Baños-Jaime, B, Maqueda, J, Smyth, L J, Cappa, R, Skelly, R, Hill, C, Brennan, E P, Doyle, R, Godson, C, Maxwell, A P & McKnight, A J 2024, 'Genetic variants affecting mitochondrial function provide further insights for kidney disease', BMC Genomics, vol. 25, 576. https://doi.org/10.1186/s12864-024-10449-1

Predmety: Male, Adult, 0301 basic medicine, UK Biobank, QH426-470, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Association, 03 medical and health sciences, Chronic kidney disease, Genetics, Humans, Genetic Predisposition to Disease, Diabetic kidney disease, Renal Insufficiency, Chronic, Mitochondria - genetics, Ensure healthy lives and promote well-being for all at all ages, Aged, 0303 health sciences, Research, DNA, Mitochondrial - genetics, Genetic Variation, Diabetes Mellitus, Type 1 - genetics - complications, Single nucleotide polymorphisms, Renal Insufficiency, Chronic - genetics, Middle Aged, Mitochondrial DNA, Mitochondria, 3. Good health, Diabetes Mellitus, Type 1, Haplotypes, Mitochondrial haplogroups, Female, TP248.13-248.65, Biotechnology, Glomerular Filtration Rate

Popis súboru: aplication/pdf; application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38858654
https://api.elsevier.com/content/abstract/scopus_id/85195624457
http://hdl.handle.net/10261/387653
https://doaj.org/article/99d65bf485c945c2820dafe74e4345b0
https://pure.qub.ac.uk/en/publications/1eb216b3-ead5-4ddc-8c07-e9039bfde2e6

Fatal Disseminated Hepatitis E in an Adult Patient with IKBKB GOF Mutation

Autori: Leif G. Hanitsch Marion Muche Helena Radbruch a ďalší

Zdroj: J Clin Immunol

Predmety: Liver Cirrhosis, Fatal Outcome, Hepatitis, Chronic/diagnosis [MeSH], I-kappa B Kinase/genetics [MeSH], Female [MeSH], Hepatitis, Chronic/genetics [MeSH], Hepatitis E/genetics [MeSH], Mutation [MeSH], Hepatitis E/diagnosis [MeSH], Liver Cirrhosis/virology [MeSH], Severe Combined Immunodeficiency/pathology [MeSH], Humans [MeSH], Hepatitis E virus/physiology [MeSH], Hepatitis, Chronic/immunology [MeSH], Severe Combined Immunodeficiency/genetics [MeSH], Middle Aged [MeSH], Hepatitis, Chronic/therapy [MeSH], Hepatitis E/therapy [MeSH], Liver Cirrhosis/pathology [MeSH], Severe Combined Immunodeficiency/immunology [MeSH], Hepatitis E/immunology [MeSH], Fatal Outcome [MeSH], Severe Combined Immunodeficiency/complications [MeSH], Correspondence, Ribavirin/therapeutic use [MeSH], Mutation, Ribavirin, Hepatitis E virus, Female, Severe Combined Immunodeficiency, Middle Aged, Hepatitis E, I-kappa B Kinase, Hepatitis, Chronic

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38758301
https://repository.publisso.de/resource/frl:6490828

Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies

Autori: Charli E. Harlow Josan Gandawijaya Rosemary A. Bamford a ďalší

Prispievatelia: Charli E. Harlow Josan Gandawijaya Rosemary A. Bamford a ďalší

Zdroj: Am J Hum Genet

Predmety: 0301 basic medicine, Coronary Artery Disease/genetics, Myocardial Infarction, Coronary Artery Disease, Myocardial Infarction/genetics, functional validation, Article, Chronic/genetics, 03 medical and health sciences, Genetics, Humans, Genetics(clinical), Renal Insufficiency, Chronic, anaemia in chronic kidney disease, 0303 health sciences, genome-wide association study, gene editing, population studies, Anemia, Renal Insufficiency, Mendelian Randomization Analysis, Anemia/drug therapy/genetics, drug-target mendelian randomization, cardiovascular disease risk, 3. Good health, mendelian randomization, statistical genetics, CRISPR-Cas9, functional genomics, Genome-Wide Association Study

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36055212
https://research.rug.nl/en/publications/dbc76815-e070-4ba9-801d-e653aebb2f58
https://hdl.handle.net/11370/dbc76815-e070-4ba9-801d-e653aebb2f58
https://doi.org/10.1016/j.ajhg.2022.08.004
https://dspace.library.uu.nl/handle/1874/447863

Telomere Therapy for Chronic Kidney Disease

Autori: Olutope Arinola Akinnibosun Michelle C Maier James Eales a ďalší

Zdroj: Akinnibosun, O A, Maier, M C, Eales, J, Tomaszewski, M & Charchar, F J 2022, 'Telomere therapy for chronic kidney disease', Epigenomics, vol. 14, no. 17, pp. 1039-1054. https://doi.org/10.2217/epi-2022-0073

Predmety: 0301 basic medicine, 0303 health sciences, 03 medical and health sciences, Nucleoproteins, Animals, Longitudinal Studies, Renal Insufficiency, Chronic, Telomere, Nucleoproteins/genetics, Renal Insufficiency, Chronic/genetics, Fibrosis, Telomere/genetics, 3. Good health

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36177720
https://research.manchester.ac.uk/en/publications/c4450742-8750-4d79-88f0-998f8ce77225
https://doi.org/10.2217/epi-2022-0073

Divergent clonal evolution of blastic plasmacytoid dendritic cell neoplasm and chronic myelomonocytic leukemia from a shared TET2-mutated origin

Autori: Hasse M Bossenbroek Mrinal M. Patnaik Kiran Batta a ďalší

Zdroj: Leukemia
Batta, K, Bossenbroek, H M, Pemmaraju, N, Wilks, D P, Chasty, R, Dennis, M, Milne, P, Collin, M, Beird, H C, Taylor, J, Patnaik, M M, Cargo, C A, Somervaille, T C P & Wiseman, D H 2021, 'Divergent clonal evolution of blastic plasmacytoid dendritic cell neoplasm and chronic myelomonocytic leukemia from a shared TET2-mutated origin', Leukemia, vol. 35, no. 11, pp. 3299-3303. https://doi.org/10.1038/s41375-021-01228-y

Predmety: Male, Letter, 45/23, 13, Dioxygenases, Chronic/genetics, Clonal Evolution, 03 medical and health sciences, 0302 clinical medicine, 631/67/68, Hematologic Neoplasms/genetics, Dendritic Cells/pathology, Leukemia, Myelomonocytic, Chronic/genetics, Humans, Dioxygenases/genetics, Aged, Leukemia, 45, Leukemia, Myelomonocytic, Chronic, Myelomonocytic, Dendritic Cells, Prognosis, 13/31, DNA-Binding Proteins, Hematologic Neoplasms, Mutation, 692/420/755, DNA-Binding Proteins/genetics

Popis súboru: application/pdf

Prístupová URL adresa: https://www.nature.com/articles/s41375-021-01228-y.pdf
https://pubmed.ncbi.nlm.nih.gov/33833384
https://research.manchester.ac.uk/en/publications/122a6d7d-3496-41a2-93e4-ed913a24cfb0
https://doi.org/10.1038/s41375-021-01228-y
https://pubmed.ncbi.nlm.nih.gov/33833384/
https://www.nature.com/articles/s41375-021-01228-y
https://chesterrep.openrepository.com/handle/10034/626214
https://europepmc.org/article/MED/33833384
https://www.nature.com/articles/s41375-021-01228-y.pdf
https://mayoclinic.pure.elsevier.com/en/publications/divergent-clonal-evolution-of-blastic-plasmacytoid-dendritic-cell

Safety and Effectiveness Using 8 Weeks of Glecaprevir/Pibrentasvir in HCV-Infected Treatment-Naïve Patients with Compensated Cirrhosis: The CREST Study

Autori: Cornberg, Markus Ahumada, Adriana Aghemo, Alessio a ďalší

Zdroj: Adv Ther

Predmety: Cyclopropanes, Liver Cirrhosis, 0301 basic medicine, Aminoisobutyric Acids, Pyrrolidines, Genotype, Proline, Sustained Virologic Response, Lactams, Macrocyclic, Hepacivirus, Direct-acting antivirals, Antiviral Agents, 12. Responsible consumption, 03 medical and health sciences, 0302 clinical medicine, Leucine, Quinoxalines, Liver Cirrhosis/complications [MeSH], Cyclopropanes [MeSH], Sustained Virologic Response [MeSH], Quinoxalines [MeSH], Aminoisobutyric Acids [MeSH], Hepacivirus/genetics [MeSH], Hepatitis C, Chronic/genetics [MeSH], Real world, Compensated cirrhosis, Benzimidazoles [MeSH], Hepatitis C, Chronic/drug therapy [MeSH], Original Research, Pyrrolidines/therapeutic use [MeSH], Sulfonamides [MeSH], Lactams, Macrocyclic [MeSH], Antiviral Agents/adverse effects [MeSH], Humans [MeSH], Retrospective Studies [MeSH], Treatment-naïve, Hepatitis C, Chronic/complications [MeSH], Leucine/analogs, Medical and Health Sciences, Hepatitis C/drug therapy [MeSH], Genotype [MeSH], Liver Cirrhosis/drug therapy [MeSH], Proline/analogs, Hepatitis C virus, Humans, Retrospective Studies, Treatment-naïve, Sulfonamides, Hepatitis C, Chronic, Hepatitis C, 3. Good health, Benzimidazoles

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/35543964
https://hdl.handle.net/2434/1010373
https://doi.org/10.1007/s12325-022-02158-6
https://repository.publisso.de/resource/frl:6486455

Multivariate canonical correlation analysis identifies additional genetic variants for chronic kidney disease

Autori: Amy J. Osborne Agnieszka Bierzynska Elizabeth Colby a ďalší

Prispievatelia: Amy J. Osborne Agnieszka Bierzynska Elizabeth Colby a ďalší

Zdroj: NPJ Syst Biol Appl
npj Systems Biology and Applications, Vol 10, Iss 1, Pp 1-15 (2024)

Predmety: 0301 basic medicine, 0303 health sciences, QH301-705.5, Quantitative Trait Loci, Kidney, Article, 3. Good health, Chronic/genetics, 03 medical and health sciences, Canonical Correlation Analysis, Genome-Wide Association Study/methods, Humans, Renal Insufficiency, Biology (General), Renal Insufficiency, Chronic, Quantitative Trait Loci/genetics, Genome-Wide Association Study

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38459044
https://doaj.org/article/720dcb90cc644525b4ddd6be5815d98b
https://resolver.sub.uni-goettingen.de/purl?gro-2/142533

Multistep pathogenesis of chronic myelomonocytic leukemia in patients

Autori: Klaus Geissler Eva Jäger Agnes Barna a ďalší

Zdroj: Eur J Haematol

Predmety: 0301 basic medicine, Biological Products, Leukemia, Myeloid, Acute, 0303 health sciences, 03 medical and health sciences, Mutation, Humans, Leukemia, Myelomonocytic, Chronic / diagnosis, Leukemia, Myelomonocytic, Chronic, Original Articles, Leukemia, Myelomonocytic, Chronic / genetics, Prognosis, 3. Good health

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/35299281

Discovery of genomic and transcriptomic pleiotropy between kidney function and soluble receptor for advanced glycation end products using correlated meta-analyses:The Long Life Family Study

Autori: Feitosa, Mary F. Lin, Shiow J. Acharya, Sandeep a ďalší

Zdroj: Feitosa, M F, Lin, S J, Acharya, S, Thyagarajan, B, Wojczynski, M K, Kuipers, A L, Kulminski, A M, Christensen, K, Zmuda, J M, Brent, M R & Province, M A 2024, 'Discovery of genomic and transcriptomic pleiotropy between kidney function and soluble receptor for advanced glycation end products using correlated meta-analyses : The Long Life Family Study', Aging Cell, vol. 23, no. 10, e14261. https://doi.org/10.1111/acel.14261

Predmety: Adult, Aged, 80 and over, Female, Genetic Pleiotropy, Genome-Wide Association Study, Genomics/methods, Glomerular Filtration Rate/genetics, Humans, Kidney/metabolism, Male, Middle Aged, Receptor for Advanced Glycation End Products/genetics, Renal Insufficiency, Chronic/genetics, Transcriptome/genetics, Young Adult

Popis súboru: application/pdf

Dostupnosť: https://portal.findresearcher.sdu.dk/da/publications/d929b2ef-db9a-4f91-ab66-82f92537a28b
https://doi.org/10.1111/acel.14261
https://findresearcher.sdu.dk/ws/files/276865470/Aging_Cell_-_2024_-_Feitosa_-_Discovery_of_genomic_and_transcriptomic_pleiotropy_between_kidney_function_and_soluble.pdf

Discovery of genomic and transcriptomic pleiotropy between kidney function and soluble receptor for advanced glycation end-products using correlated meta-analyses: The Long Life Family Study (LLFS): The Long Life Family Study

Autori: Mary F. Feitosa Shiow J. Lin Sandeep Acharya a ďalší

Zdroj: Aging Cell

Predmety: Adult, Male, Receptor for Advanced Glycation End Products/genetics, Receptor for Advanced Glycation End Products, Kidney, Chronic/genetics, Young Adult, 80 and over, Humans, Renal Insufficiency, Renal Insufficiency, Chronic, Glomerular Filtration Rate/genetics, Aged, Aged, 80 and over, Genetic Pleiotropy, Genomics, Transcriptome/genetics, Middle Aged, Genomics/methods, 3. Good health, Kidney/metabolism, Female, Transcriptome, Research Article, Genome-Wide Association Study, Glomerular Filtration Rate

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38932496
https://pubmed.ncbi.nlm.nih.gov/38234834

Obesity and Kidney Function: A Two-Sample Mendelian Randomization Study

Autori: Kjaergaard, Alisa D Teumer, Alexander Witte, Daniel R a ďalší

Prispievatelia: Kjaergaard, Alisa D Teumer, Alexander Witte, Daniel R a ďalší

Zdroj: Kjaergaard, A D, Teumer, A, Witte, D R, Stanzick, K-J, Winkler, T W, Burgess, S & Ellervik, C 2022, ' Obesity and Kidney Function : A Two-Sample Mendelian Randomization Study ', Clinical Chemistry, vol. 68, no. 3, pp. 461-472 . https://doi.org/10.1093/clinchem/hvab249
Kjaergaard, A D, Teumer, A, Witte, D R, Stanzick, K J, Winkler, T W, Burgess, S & Ellervik, C 2022, 'Obesity and Kidney Function : A Two-Sample Mendelian Randomization Study', Clinical Chemistry, vol. 68, no. 3, pp. 461-472. https://doi.org/10.1093/clinchem/hvab249

Predmety: 0301 basic medicine, obesity, kidney function tests, body mass index, Renal Insufficiency, Chronic/genetics, Kidney, DISEASE, albuminuria, renal insufficiency, Body Mass Index, 03 medical and health sciences, Albumins, Albuminuria, Humans, Obesity, Renal Insufficiency, Chronic, blood urea nitrogen, RISK, 2. Zero hunger, OUTCOMES, DECLINE, glomerular filtration rate, 0303 health sciences, Diabetes Mellitus, Type 2/complications, Albuminuria/genetics, Mendelian Randomization Analysis, mendelian randomization analysis, 3. Good health, BODY-MASS INDEX, chronic, type 2, Diabetes Mellitus, Type 2, Creatinine, diabetes mellitus, waist-hip ratio, Obesity/complications, Genome-Wide Association Study

Popis súboru: application/pdf; application/msword; application/octet-stream

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/34922334
https://www.repository.cam.ac.uk/handle/1810/329125
https://curis.ku.dk/ws/files/358964551/EMS175067.pdf
https://pure.au.dk/portal/en/publications/e7f94192-0b01-440a-b577-317bc24f82f9
http://www.scopus.com/inward/record.url?scp=85125682933&partnerID=8YFLogxK
https://doi.org/10.1093/clinchem/hvab249
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614591/pdf/EMS175067.pdf

Effect of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in a community-based cohort of older adults

Autori: Engi Abdel Hady Algharably Linda Elizabeth Villagomez Fuentes Maximilian König a ďalší

Zdroj: J Hum Hypertens
Journal of Human Hypertension

Predmety: 0301 basic medicine, hypertension, uromodulin, Glomerular Filtration Rate/physiology [MeSH], Hypertension/epidemiology [MeSH], Renal Insufficiency, Chronic/diagnosis [MeSH], Uromodulin/genetics [MeSH], Aged [MeSH], Humans [MeSH], Renal Insufficiency, Chronic/genetics [MeSH], Hand Strength [MeSH], Hypertension/genetics [MeSH], Kidney [MeSH], Middle Aged [MeSH], Hypertension/diagnosis [MeSH], Risk factors, Genetics research, Genome-Wide Association Study [MeSH], Article, Genetics, Cardiovascular diseases, Blood Pressure/genetics [MeSH], Renal Insufficiency, Chronic/epidemiology [MeSH], Ageing, Cognition [MeSH], Blood Pressure, Kidney, elderly, UMOD gene, 03 medical and health sciences, Cognition, 0302 clinical medicine, functional performance, Uromodulin, genotype phenotype association, Humans, Renal Insufficiency, Chronic, kidney function, older adults, Aged, Hand Strength, blood pressure, Middle Aged, 3. Good health, cognitive and physical function, Hypertension, chronic kidney disease, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit, Genome-Wide Association Study, Glomerular Filtration Rate

Prístupová URL adresa: https://www.nature.com/articles/s41371-021-00608-2.pdf
https://pubmed.ncbi.nlm.nih.gov/34593962
https://www.nature.com/articles/s41371-021-00608-2.pdf
https://pure.mpg.de/pubman/faces/ViewItemOverviewPage.jsp?itemId=item_3344694
https://www.ncbi.nlm.nih.gov/pubmed/34593962
https://pubmed.ncbi.nlm.nih.gov/34593962/
http://www-nature-com-443.webvpn.bjmu.tsg211.com/articles/s41371-021-00608-2
https://www.nature.com/articles/s41371-021-00608-2
http://hdl.handle.net/21.11116/0000-0009-4DF2-0
https://repository.publisso.de/resource/frl:6443858

Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation

Autori: Regina Müller Ali A. Aghdassi Judith Kruse a ďalší

Zdroj: Eur J Hum Genet

Predmety: Adult, Aged, 80 and over, Male, 2. Zero hunger, 0301 basic medicine, Health Knowledge, Attitudes, Practice, Adolescent, Patients, Middle Aged, Adolescent [MeSH], Female [MeSH], Aged, 80 and over [MeSH], Aged [MeSH], Adult [MeSH], Humans [MeSH], Medical ethics, Family/psychology [MeSH], Genetic Testing/ethics [MeSH], Middle Aged [MeSH], Health Knowledge, Attitudes, Practice [MeSH], Article, Pancreatitis, Chronic/diagnosis [MeSH], Quality of life, Ethics, Health services, Male [MeSH], Patients/psychology [MeSH], Psychology, Pancreatitis, Chronic/genetics [MeSH], Pancreatitis, Chronic/psychology [MeSH], Netherlands [MeSH], 3. Good health, 03 medical and health sciences, Pancreatitis, Chronic, Humans, Family, Female, Genetic Testing, Aged, Netherlands

Prístupová URL adresa: https://www.nature.com/articles/s41431-020-00705-9.pdf
https://pubmed.ncbi.nlm.nih.gov/32788661
https://www.nature.com/articles/s41431-020-00705-9.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7852527
https://www.nature.com/articles/s41431-020-00705-9
https://europepmc.org/article/PMC/PMC7852527
https://www.ncbi.nlm.nih.gov/pubmed/32788661
https://repository.publisso.de/resource/frl:6472118

Effective drug treatment identified by in vivo screening in a transplantable patient-derived xenograft model of chronic myelomonocytic leukemia

Autori: Arnold Kloos Yasmine Alwie Charu Gupta a ďalší

Zdroj: Leukemia

Predmety: Pyridones, Drug Evaluation, Preclinical, Antineoplastic Agents, Pyrimidinones, Leukemia, Myelomonocytic, Chronic/pathology [MeSH], Antineoplastic Agents/adverse effects [MeSH], Drug Evaluation, Preclinical/standards [MeSH], Pyridones/pharmacology [MeSH], Drug Synergism [MeSH], Antineoplastic Agents/administration, Antineoplastic Agents/pharmacology [MeSH], Oncogenesis, Receptor, Notch1/genetics [MeSH], Translational research, Pyridones/therapeutic use [MeSH], Leukemia, Myelomonocytic, Chronic/genetics [MeSH], RNA, Small Interfering/genetics [MeSH], Disease Models, Animal [MeSH], Xenograft Model Antitumor Assays/methods [MeSH], Membrane Proteins/genetics [MeSH], Female [MeSH], Clonal Evolution [MeSH], Mutation [MeSH], Leukemia, Myelomonocytic, Chronic/drug therapy [MeSH], Protein Kinase Inhibitors/pharmacology [MeSH], Pyrimidinones/pharmacology [MeSH], Humans [MeSH], Azacitidine/pharmacology [MeSH], Leukemia, Myelomonocytic, Chronic/mortality [MeSH], Animals [MeSH], Protein Kinase Inhibitors/therapeutic use [MeSH], Antineoplastic Combined Chemotherapy Protocols/therapeutic use [MeSH], Antineoplastic Combined Chemotherapy Protocols/adverse effects [MeSH], Mice [MeSH], Article, Drug Evaluation, Preclinical/methods [MeSH], Preclinical research, Pyrimidinones/therapeutic use [MeSH], GTP Phosphohydrolases/genetics [MeSH], GTP Phosphohydrolases, Clonal Evolution, Mice, Antineoplastic Combined Chemotherapy Protocols, Animals, Humans, RNA, Small Interfering, Receptor, Notch1, Protein Kinase Inhibitors, ddc:610, Membrane Proteins, Drug Synergism, Leukemia, Myelomonocytic, Chronic, 3. Good health, Disease Models, Animal, Mutation, Azacitidine, Female

Popis súboru: application/pdf

Prístupová URL adresa: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7116758
https://pubmed.ncbi.nlm.nih.gov/32576961
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7116758
https://www.ncbi.nlm.nih.gov/pubmed/32576961
https://www.nature.com/articles/s41375-021-01459-z
https://www.nature.com/articles/s41375-021-01459-z.pdf
https://pubmed.ncbi.nlm.nih.gov/32576961/
https://europepmc.org/article/MED/34728793
https://repository.publisso.de/resource/frl:6471070