Suchergebnisse - "Makris, Georgios"

Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.

Autoren: Diep, Taryn Zhou, Wesley Reyes, Rachel et al.

Quelle: Molecular Therapy: Nucleic Acids. 36(1)

Schlagwörter: MT: Delivery Strategies, carbamoyl phosphate synthetase deficiency, gene therapy, hyperammonemia, oversized AAV, urea-cycle disorder, ureagenesis

Dateibeschreibung: application/pdf

Zugangs-URL: https://escholarship.org/uc/item/3vs7b8hm
https://escholarship.org/content/qt3vs7b8hm/qt3vs7b8hm.pdf

The therapeutic landscape of citrin deficiency

Autoren: Vuković, Toni Kuek, Li Eon Yu, Barbara et al.

Weitere Verfasser: Vuković, Toni Kuek, Li Eon Yu, Barbara et al.

Quelle: J Inherit Metab Dis

Schlagwörter: 0301 basic medicine, 2716 Genetics (clinical), Citrullinemia, 0303 health sciences, Ureagenesis, Calcium-Binding Proteins, 10050 Institute of Pharmacology and Toxicology, Organic Anion Transporters, 610 Medicine & health, Mitochondrial Membrane Transport Proteins, Liver Transplantation, 3. Good health, 03 medical and health sciences, 1311 Genetics, Liver, 10036 Medical Clinic, 570 Life sciences, biology, Humans, Triglycerides

Dateibeschreibung: JIMD_47_1157.pdf - application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39021261

A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system

Autoren: Bakshi, Stuti Diep, Taryn Willis, Brandon J et al.

Weitere Verfasser: Bakshi, Stuti Diep, Taryn Willis, Brandon J et al.

Quelle: Dis Model Mech

Schlagwörter: 10036 Medical Clinic, 610 Medicine & health, Research Article

Dateibeschreibung: POMMA_hypomorphic_model_of_CPS1.pdf - application/pdf

Zugangs-URL: https://www.zora.uzh.ch/id/eprint/278735/
https://doi.org/10.5167/uzh-278735

Expression and function of the urea cycle in widely‐used hepatic cellular models

Autoren: Makris, Georgios Veit, Lara Rüfenacht, Véronique et al.

Weitere Verfasser: Makris, Georgios Veit, Lara Rüfenacht, Véronique et al.

Quelle: Journal of Inherited Metabolic Disease. 47:1228-1238

Schlagwörter: 2716 Genetics (clinical), Arginase, Induced Pluripotent Stem Cells, 610 Medicine & health, Cell Differentiation, hepatic cellular models, Hep G2 Cells, stable isotope quantification, 3. Good health, 1311 Genetics, Liver, 10036 Medical Clinic, HepaRG cells, enzyme expression, urea cycle, Hepatocytes, Humans, Urea, ureagenesis, Urea Cycle Disorders, Inborn

Dateibeschreibung: ZORA_253023_aM.pdf - application/pdf; ZORA_253023_ergMat.pdf - application/pdf; ZORA_253023.pdf - application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38192032

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition

Autoren: Kido, Jun Makris, Georgios Santra, Saikat et al.

Weitere Verfasser: Kido, Jun Makris, Georgios Santra, Saikat et al.

Quelle: J Inherit Metab Dis

Schlagwörter: 0301 basic medicine, 2716 Genetics (clinical), Citrullinemia, 0303 health sciences, Ureagenesis, Calcium-Binding Proteins, Infant, Newborn, Organic Anion Transporters, 610 Medicine & health, Cholestasis, Intrahepatic, Mitochondrial Membrane Transport Proteins, Failure to Thrive, 3. Good health, 03 medical and health sciences, Neonatal Screening, 1311 Genetics, 10036 Medical Clinic, Mutation, Humans

Dateibeschreibung: ZORA270545.pdf - application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38503330
https://www.zora.uzh.ch/id/eprint/270545/
https://doi.org/10.5167/uzh-270545

Transparency-based hierarchical testability analysis and test generation for register transfer level designs

Autoren: Makris, Georgios

Quelle: Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses

Verfügbarkeit: http://wwwlib.umi.com/cr/ucsd/fullcit?p9997571

Sunshine, temperature and suicidal behaviour in patients treated with antidepressants: an explorative nested case-control study

Autoren: Makris, Georgios D. White, Richard A. Reutfors, Johan et al.

Quelle: Scientific Reports. 11(1)

Dateibeschreibung: electronic

Zugangs-URL: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-447719
https://doi.org/10.1038/s41598-021-89499-4

How Far Can We Trust Chaos? Extending the Horizon of Predictability

Autoren: Angelidis, Alexandros K. Makris, Georgios C. Ioannidis, Evangelos et al.

Schlagwörter: Chaotic Dynamics, 65Pxx, 37Mxx

Relation: http://arxiv.org/abs/2510.16949

Verfügbarkeit: http://arxiv.org/abs/2510.16949

Kalmusia variispora (Didymosphaeriaceae, Dothideomycetes) Associated with the Grapevine Trunk Disease Complex in Cyprus

Autoren: Makris, Georgios Sandoval-Denis, Marcelo Crous, Pedro W. et al.

Quelle: Makris , G , Sandoval-Denis , M , Crous , P W & Kanetis , L I 2025 , ' Kalmusia variispora (Didymosphaeriaceae, Dothideomycetes) Associated with the Grapevine Trunk Disease Complex in Cyprus ' , Pathogens , vol. 14 , no. 5 , 428 . https://doi.org/10.3390/pathogens14050428

Schlagwörter: Cyprus, Didymosphaeriaceae, grapevine trunk disease, Kalmusia variispora, Vitis vinifera

Verfügbarkeit: https://pure.knaw.nl/portal/en/publications/f700dc8b-7fa6-41b7-b93c-ca0ca9b0e5c2
https://doi.org/10.3390/pathogens14050428
https://hdl.handle.net/20.500.11755/f700dc8b-7fa6-41b7-b93c-ca0ca9b0e5c2

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review

Autoren: Kido, Jun Sugawara, Keishin Tavoulari, Sotiria et al.

Weitere Verfasser: Kido, Jun Sugawara, Keishin Tavoulari, Sotiria et al.

Quelle: Human Mutation ; volume 2025, issue 1 ; ISSN 1059-7794 1098-1004

Verfügbarkeit: https://doi.org/10.1155/humu/9326326
https://onlinelibrary.wiley.com/doi/pdf/10.1155/humu/9326326

LEMD2‐associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene

Autoren: Matter, Alyssia Kaufman, Christina Zürcher, Nadia et al.

Weitere Verfasser: Matter, Alyssia Kaufman, Christina Zürcher, Nadia et al.

Quelle: Aging Cell
Matter, Alyssia; Kaufman, Christina; Zürcher, Nadia; Lenggenhager, Daniela; Grehten, Patrice; Bartholdi, Deborah; Horka, Laura; Häberle, Johannes; Makris, Georgios (2024). LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene. Aging cell, 23(8), e14189. Wiley 10.1111/acel.14189 <http://dx.doi.org/10.1111/acel.14189>

Schlagwörter: Nuclear Envelope, Short Communication, Membrane Proteins, Nuclear Proteins, 610 Medicine & health, Hep G2 Cells, 3. Good health, 1307 Cell Biology, 1302 Aging, Phenotype, Progeria, 10036 Medical Clinic, 10049 Institute of Pathology and Molecular Pathology, Humans, Female

Dateibeschreibung: application/pdf; Aging_Cell___2024___Matter___LEMD2_associated_progeroid_syndrome__Expanding_the_phenotype_of_the_nuclear_envelopathy_caused.pdf - application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38757373
https://boris.unibe.ch/196894/
https://www.zora.uzh.ch/id/eprint/259789/
https://doi.org/10.5167/uzh-259789

Living in Turbulent Times : Monasteries, Settlements, and Laypeople in Late Byzantine Southwest Thrace

Autoren: MAKRIS, GEORGIOS

Quelle: Dumbarton Oaks Papers, 2020 Jan 01. 74, 161-184.

Zugangs-URL: https://www.jstor.org/stable/26979082

Fabian Stroth, The Church of St. Polyeuktos at Constantinople

Autoren: Makris, Georgios

Schlagwörter: Constantinople, Hagios Polyeuktos, Iuliana Anicia

CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis.

Autoren: Nitzahn, Matthew Truong, Brian Khoja, Suhail et al.

Quelle: Yale Journal of Biology and Medicine. 94(4)

Schlagwörter: CRISPR/Cas9, Carbamoyl phosphate synthetase deficiency, gene therapy, hyperammonemia, iPSC, Carbamoyl-Phosphate Synthase (Ammonia), Clustered Regularly Interspaced Short Palindromic Repeats, Genomics, Homeostasis, Humans, Induced Pluripotent Stem Cells, Nitrogen

Dateibeschreibung: application/pdf

Zugangs-URL: https://escholarship.org/uc/item/42c77124
https://escholarship.org/content/qt42c77124/qt42c77124.pdf

Impact of small molecule‐mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism

Autoren: Makris, Georgios Kayhan, Semih Kreuzer, Marvin et al.

Weitere Verfasser: Makris, Georgios Kayhan, Semih Kreuzer, Marvin et al.

Quelle: Cancer Commun (Lond)
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Cancer Communications, Vol 43, Iss 4, Pp 508-512 (2023)
Cancer Communiuations

Schlagwörter: 0301 basic medicine, Cancer Research, 0303 health sciences, Lung Neoplasms, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 610 Medicine & health, 10044 Clinic for Radiation Oncology, 03 medical and health sciences, Oncology, Liver, 10036 Medical Clinic, Ammonia, Humans, Letters to the Editor, RC254-282

Dateibeschreibung: Cancer_Communications___2023___Makris___Impact_of_small_molecule_mediated_inhibition_of_ammonia_detoxification_on_lung.pdf - application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36708276
http://hdl.handle.net/10261/306637
https://doaj.org/article/a86d6ccade28424492f8f58fb1112fa6
https://www.zora.uzh.ch/id/eprint/228939/
https://doi.org/10.5167/uzh-228939

Studien zur spätbyzantinischen Schiffahrt

Autoren: Makris, Georgios

Schlagwörter: Maritime law -- History -- Byzantine Empire -- Sources

Geographisches Schlagwort: Byzantine Empire -- Commerce -- History -- Sources, Mediterranean Sea -- Navigation -- History -- Sources

Lay Authority and Meaningful Portraiture on Mount Papikion, Thrace

Autoren: MAKRIS, GEORGIOS

Quelle: Gesta, 2019 Apr 01. 58(1), 55-75.

Zugangs-URL: https://www.jstor.org/stable/26856280

Suicide Seasonality : Theoretical and Clinical Implications

Autoren: Makris, Georgios

Schlagwörter: suicide, season, antidepressants, sunshine, temperature, Neurosciences, Neurovetenskaper

Dateibeschreibung: application/pdf

Relation: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, 1651-6206 ; 1383

Verfügbarkeit: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-330907

Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency

Autoren: Nitzahn, Matthew Allegri, Gabriella Khoja, Suhail et al.

Quelle: Molecular Therapy. 28(7)

Schlagwörter: Medical Biotechnology, Biomedical and Clinical Sciences, Rare Diseases, Digestive Diseases, Gene Therapy, Neurosciences, Brain Disorders, Liver Disease, Nutrition, Genetics, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Ammonia, Animals, Carbamoyl-Phosphate Synthase (Ammonia), Carbamoyl-Phosphate Synthase I Deficiency Disease, DNA Packaging, Dependovirus, Disease Models, Animal, Female, Genetic Therapy, Genetic Vectors, Humans, Mice, Proof of Concept Study, Urea, adeno-associated virus, carbamoyl phosphate synthetase deficiency, gene therapy, hyperammonemia, split AAV, urea cycle disorder, ureagenesis, Biological Sciences, Technology, Medical and Health Sciences, Biotechnology, Clinical sciences, Medical biotechnology

Dateibeschreibung: application/pdf

Zugangs-URL: https://escholarship.org/uc/item/0tc4j8kr
https://escholarship.org/content/qt0tc4j8kr/qt0tc4j8kr.pdf

Monks and monasteries of Byzantine Thrace 10th-14th centuries

Autoren: Makris, Georgios

Schlagwörter: 949.5, BX Christian Denominations, CC Archaeology, D051 Ancient History, DF Greece, DR Balkan Peninsula

Verfügbarkeit: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.687579