نتائج البحث - "Angela, Pyle"

1

Heteroplasmic mitochondrial DNA variants in cardiovascular diseases

المؤلفون: Claudia Calabrese, Angela Pyle, Helen Griffin, Jonathan Coxhead, Rafiqul Hussain, Peter S Braund, Linxin Li, Annette Burgess, Patricia B Munroe, Louis Little, Helen R Warren, Claudia Cabrera, Alistair Hall, Mark J Caulfield, Peter M Rothwell, Nilesh J Samani, Gavin Hudson, Patrick F. Chinnery

المساهمون: Calabrese, Claudia [0000-0002-8941-2620], Pyle, Angela [0000-0003-3860-4531], Coxhead, Jonathan [0000-0002-6128-9560], Hussain, Rafiqul [0000-0002-1436-8944], Braund, Peter S [0000-0001-8540-5709], Li, Linxin [0000-0002-3636-8355], Burgess, Annette [0000-0003-3442-8083], Munroe, Patricia B [0000-0002-4176-2947], Little, Louis [0000-0002-4250-4181], Warren, Helen R [0000-0003-0511-1386], Cabrera, Claudia [0000-0002-2205-5315], Rothwell, Peter M [0000-0001-9739-9211], Chinnery, Patrick [0000-0002-7065-6617], Apollo - University of Cambridge Repository, Chinnery, Patrick F [0000-0002-7065-6617]

مصطلحات موضوعية: Medicine and health sciences, Cancer Research, Mitochondrial Diseases, Biology and life sciences, DNA, Mitochondrial, Mitochondria, Cardiovascular Diseases, Hypertension, Mutation, Genetics, Humans, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Research Article

وصف الملف: application/zip; application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f849986b5e72b1139a4bd721e7082ccfTest
https://www.repository.cam.ac.uk/handle/1810/336073Test

2

Clinical presentation and proteomic signature of patients with TANGO2 mutations

المؤلفون: Aurora Pujol, Sarah C. Grünert, Leigh B. Waddell, Cecilia Jimenez-Mallebrera, Ana Töpf, Frances J. Evesson, Antonia Ribes, Carlos Ortez, Daniel McArthur, Sandra T. Cooper, Charlotte L. Alston, Delia Yubero, Georgia Sarquella, Saikat Santra, Janbernd Kirschner, Agatha Schlüter, Rita Horvath, Kyle Thompson, Nicolai Kohlschmidt, Michael Champion, Hanns Lochmüller, Robert W. Taylor, Claudia Gross, Gina L. O’Grady, Maria del Mar O’Callaghan, Efsthatia Chronopoulou, M. A. Preece, Andrés Nascimento, Majumdar Anirban, Christian Turner, Denisa Hathazi, Germaine Pierre, Frederic Tort, Nadja Mingirulli, Raquel Montero, Sergei Korenev, Angela Pyle, Jennifer Duff, Andreas Roos, Angels García-Cazorla, Rafael Artuch, Plácido Navas, Cristina Jou

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Generalitat de Catalunya, Association Française contre les Myopathies, European Research Council, European Commission, Fundació La Marató de TV3, Instituto de Salud Carlos III, Medical Research Council (UK), National Institute for Health Research (UK), Wellcome Trust

المصدر: Journal of Inherited Metabolic Disease
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Mingirulli, N, Pyle, A, Hathazi, D, Alston, C L, Kohlschmidt, N, O'Grady, G, Waddell, L, Evesson, F, Cooper, S B T, Turner, C, Duff, J, Topf, A, Yubero, D, Jou, C, Nascimento, A, Ortez, C, García-Cazorla, A, Gross, C, O'Callaghan, M, Santra, S, Preece, M A, Champion, M, Korenev, S, Chronopoulou, E, Anirban, M, Pierre, G, McArthur, D, Thompson, K, Navas, P, Ribes, A, Tort, F, Schlüter, A, Pujol, A, Montero, R, Sarquella, G, Lochmüller, H, Jiménez-Mallebrera, C, Taylor, R W, Artuch, R, Kirschner, J, Grünert, S C, Roos, A & Horvath, R 2020, ' Clinical presentation and proteomic signature of patients with TANGO2 mutations ', Journal of Inherited Metabolic Disease, vol. 43, no. 2, pp. 297-308 . https://doi.org/10.1002/jimd.12156Test
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: metabolic encephalomyopathy, Male, Proteomics, Mitochondrial Diseases, Fisiologia patològica, Respiratory chain, Medizin, Golgi Apparatus, TANGO2, Oxidative Phosphorylation, Rhabdomyolysis, fatty acid metabolism, Cognitive decline, Pathological physiology, health care economics and organizations, Genetics (clinical), chemistry.chemical_classification, 0303 health sciences, Muscle Weakness, Brain Diseases, Metabolic, 030305 genetics & heredity, Metabolic disorder, Fatty Acids, Homozygote, Errors congènits del metabolisme, proteomic analysis, 3. Good health, medicine.anatomical_structure, Phenotype, Lactic acidosis, Original Article, Female, education, Oxidative phosphorylation, Inborn errors of metabolism, Biology, 03 medical and health sciences, mitochondrial dysfunction, Genetics, medicine, Humans, rhabdomyolysis, 030304 developmental biology, Whole Genome Sequencing, Skeletal muscle, Infant, Original Articles, medicine.disease, Molecular biology, Enzyme, Membrane protein, chemistry, Mutation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78b0430fb79fe65dede4704cce78c6bcTest
http://europepmc.org/articles/PMC7078914Test

3

A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay

المؤلفون: R Mishra, Mariya Moosajee, G Cairns, Patrick Yu-Wai-Man, Maria Toms, Angela Pyle, Florence Burté, R Price, J A Sayer, E O'Connor

المساهمون: Apollo - University of Cambridge Repository, Yu Wai Man, Patrick [0000-0001-7847-9320]

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Wolfram syndrome, Science, Mutant, Retinal ganglion, Gene Knockout Techniques, 03 medical and health sciences, 631/208, 0302 clinical medicine, Atrophy, Downregulation and upregulation, Internal medicine, Genetics, medicine, Animals, Eye diseases, Zebrafish, 030304 developmental biology, 0303 health sciences, Multidisciplinary, biology, Endoplasmic reticulum, article, Membrane Proteins, Wolfram Syndrome, medicine.disease, biology.organism_classification, 3. Good health, Disease Models, Animal, Optic Atrophy, Endocrinology, Codon, Nonsense, Mutation, Unfolded Protein Response, Unfolded protein response, 692/699/3161, Medicine, 030217 neurology & neurosurgery

وصف الملف: application/zip; application/pdf; text/xml; application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a03ad437b5fae7ab92706cc925fb86Test
https://www.repository.cam.ac.uk/handle/1810/329488Test

4

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

المساهمون: Newcastle University [Newcastle], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University College of London [London] (UCL), Albert Einstein College of Medicine [New York], Universität Zürich [Zürich] = University of Zurich (UZH), University of Tübingen, University of Miami Leonard M. Miller School of Medicine (UMMSM), King‘s College London, Guy's and St Thomas' Hospital [London], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩

مصطلحات موضوعية: Male, metabolism [Muscle, Skeletal], Developmental Disabilities, [SDV]Life Sciences [q-bio], medicine.disease_cause, Autophagy-Related Protein 7, physiology [Autophagy-Related Protein 7], pathology [Muscle, Skeletal], 0302 clinical medicine, genetics [Nervous System Malformations], Cerebellum, Missense mutation, ComputingMilieux_MISCELLANEOUS, Cells, Cultured, 0303 health sciences, Mutation, Atg7 protein, human, General Medicine, genetics [Ataxia], Phenotype, 3. Good health, Cell biology, genetics [Developmental Disabilities], Pedigree, Female, Intracellular, Adult, Adolescent, genetics [Autophagy], physiology [Autophagy], Mutation, Missense, Genes, Recessive, Nervous System Malformations, genetics [Abnormalities, Multiple], 03 medical and health sciences, genetics [Autophagy-Related Protein 7], medicine, Autophagy, Humans, Abnormalities, Multiple, Computer Simulation, ddc:610, Muscle, Skeletal, Gene, 030304 developmental biology, abnormalities [Face], business.industry, Infant, Fibroblasts, Embryonic stem cell, abnormalities [Cerebellum], Face, Ataxia, Perinatal lethal, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7Test

5

Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis

المصدر: Nat Cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8307dc672e870d72fe4e13a7b26978cbTest
https://pubmed.ncbi.nlm.nih.gov/35121898Test

6

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

المساهمون: Powell, Christopher [0000-0001-7501-0586], Joost, Kairit [0000-0003-2544-3230], Minczuk, Michal [0000-0001-8242-1420], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: The EMBO Journal

مصطلحات موضوعية: Male, Proteomics, reversible infantile respiratory chain deficiency, Mitochondrial Diseases, Medizin, Gene Expression, medicine.disease_cause, igenic inheritance, digenic inheritance, Quadriceps Muscle, 0302 clinical medicine, Mitochondrial myopathy, Membrane & Intracellular Transport, 0303 health sciences, Mutation, tRNA Methyltransferases, General Neuroscience, Mitochondrial Myopathies, Articles, Digenic inheritance, Penetrance, 3. Good health, Mitochondria, Pedigree, homoplasmic tRNA mutation, Female, medicine.medical_specialty, Mitochondrial DNA, Adolescent, Mitochondrial disease, Biology, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Article, Cell Line, Mitochondrial Proteins, 03 medical and health sciences, Lipid oxidation, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, General Immunology and Microbiology, mitochondrial myopathy, Infant, medicine.disease, Endocrinology, Metabolism, Mitochondrial biogenesis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7702b627553ef1fc91f44444ca1ad45dTest
http://europepmc.org/articles/PMC7705457Test

7

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df47fd8ee77de56e35ac6c2738539029Test

8

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

المؤلفون: Florence Burté, Patrick Yu-Wai-Man, Angela Pyle, Michela Rugolo, Isabel Diebold, Maria Lucia Valentino, Stephanie Kleinle, Rita Horvath, Valerio Carelli, Rocco Liguori, Selena Trifunov, Jennifer Duff

المساهمون: Trifunov S., Pyle A., Valentino ML., Liguori R., Yu-Wai-Man P., Burté F., Duff J., Kleinle S., Diebold I., Rugolo M., Horvath R., Carelli V., Kleinle, Stephanie [0000-0003-0135-7143], Apollo - University of Cambridge Repository

المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, Biopsy, Muscle Fibers, Skeletal, Gene Dosage, lcsh:Medicine, Genome, Polymerase Chain Reaction, Oxidative Phosphorylation, GTP Phosphohydrolases, MYOPATHY, 0302 clinical medicine, Digital polymerase chain reaction, lcsh:Science, Microdissection, Sequence Deletion, Genetics, Multidisciplinary, Middle Aged, Phenotype, MITOCHONDRIAL DNA DELETION, Heteroplasmy, Succinate Dehydrogenase, OPA1 MUTATIONS, Female, FIBERS, Adult, Mitochondrial DNA, Adolescent, Mitochondrial disease, HUMAN OOCYTES, PHENOTYPES, Genes, Recessive, Biology, HUMAN SKELETAL MUSCLE, Gene dosage, DNA, Mitochondrial, Article, MECHANISMS, Electron Transport Complex IV, 03 medical and health sciences, Young Adult, medicine, Humans, Aged, Muscle Cells, OPTIC ATROPHY, lcsh:R, Reproducibility of Results, medicine.disease, MAINTENANCE, 030104 developmental biology, Mutation, lcsh:Q, 030217 neurology & neurosurgery