نتائج البحث - "Angela, Pyle"

1

The Isolation and Deep Sequencing of Mitochondrial DNA

المؤلفون: Fiona Robertson, Angela Pyle, Brendan A I Payne, Alexander G. Bury, Gavin Hudson

المصدر: Methods in Molecular Biology ISBN: 9781071612699

مصطلحات موضوعية: Mitochondrial DNA, Massive parallel sequencing, Cellular dna, Somatic cell, Pseudogene, Computational biology, Biology, Isolation (microbiology), Deep sequencing, Heteroplasmy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c55b4a1fa27bc0e85b70fd69cd059eb7Test
https://doi.org/10.1007/978-1-0716-1270-5_27Test

2

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

3

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

4

Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease

المؤلفون: Hannah Lowes, Angela Pyle, Marzena Kurzawa-Akanbi, Gavin Hudson

المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc0be77e0e1b4dead126d99724cee56Test
https://pubmed.ncbi.nlm.nih.gov/32943697Test

5

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

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

6

Metabolic effects of bezafibrate in mitochondrial disease

المؤلفون: Langping He, Kieren G. Hollingsworth, Hannah E. Steele, Renae J. Stefanetti, Sila Hopton, Rita Horvath, Leonardo Bottolo, Aurora Gomez-Duran, Angela Pyle, Jane Newman, Alan J. Robinson, Carlo Viscomi, Sarah J. Charman, Jehill D Parikh, Djordje G. Jakovljevic, Robert W. Taylor, Patrick F. Chinnery

المساهمون: Gomez-Duran, Aurora [0000-0002-5895-6860], Viscomi, Carlo [0000-0001-6050-0566], Taylor, Robert W [0000-0002-7768-8873], Bottolo, Leonardo [0000-0002-6381-2327], Horvath, Rita [0000-0002-9841-170X], Chinnery, Patrick F [0000-0002-7065-6617], Apollo - University of Cambridge Repository

المصدر: EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 12, Iss 3, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial encephalomyopathy, Mitochondrial DNA, Medicine (General), FGF21, Mitochondrial disease, Pharmacology, QH426-470, 03 medical and health sciences, bezafibrate, metabolomics, mitochondrial disorder, mitochondrial DNA, mitochondrial encephalomyopathy, 0302 clinical medicine, R5-920, Mitochondrial myopathy, Report, Chemical Biology, medicine, Genetics, Humans, Metabolomics, Mitochondrial Encephalomyopathy, Bezafibrate, Organelle Biogenesis, business.industry, Mitochondrial Myopathies, medicine.disease, 3. Good health, Mitochondria, 030104 developmental biology, Metabolism, Mitochondrial biogenesis, Mitochondrial Disorder, Molecular Medicine, Liver function, Genetics, Gene Therapy & Genetic Disease, business, 030217 neurology & neurosurgery, medicine.drug

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/jpeg

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83114404c383ad1358003694294b129fTest
https://www.repository.cam.ac.uk/handle/1810/303934Test

7

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

المؤلفون: B Bansagi, Ramesh, Andreas Roos, Hanns Lochmüller, Helen Griffin, Alan J. Robinson, Rita Horvath, Boczonadi, Filmon Eyassu, Ers Kunji, Monika Oláhová, Angela Pyle, Tuomo Polvikoski, Patrick F. Chinnery, Roger G. Whittaker, Robert W. Taylor, Christoph H. Borchers, King, Anthony C. Smith

المصدر: Genetics in Medicine. 21:2163-2164

مصطلحات موضوعية: Mitochondrial DNA, Pathology, medicine.medical_specialty, business.industry, medicine, Disease, Spinal muscular atrophy, medicine.disease, business, OXODICARBOXYLATE CARRIER, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::173d69b4dcb58bf6371c7dd1f366570bTest
https://doi.org/10.1038/s41436-019-0506-1Test

8

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

المؤلفون: Anna L. Guyatt, Angela Pyle, Patrick F. Chinnery, Heather J. Cordell, Santiago Rodriguez, Raimondo Ascione, Gavin Hudson, Rebecca R. Brennan, Kimberley Burrows, Debbie A Lawlor, Susan M. Ring, Tom R. Gaunt, Philip A. I. Guthrie

المساهمون: Apollo - University of Cambridge Repository, Chinnery, Patrick [0000-0002-7065-6617]

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-17 (2019)
Human Genomics
Guyatt, A L, Brennan, R R, Burrows, K, Guthrie, P A I, Ascione, R, Ring, S M, Gaunt, T R, Pyle, A, Cordell, H J, Lawlor, D A, Chinnery, P F, Hudson, G & Rodriguez, S 2019, ' A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts ', Human Genomics, vol. 13, no. 1, 6 . https://doi.org/10.1186/s40246-018-0190-2Test

وصف الملف: application/pdf; application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d9bf098d7149352446bcccb9a554fcTest

9

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

وصف الملف: ELETTRONICO; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::724a3102df67f66837e5cd5a056b9e36Test

10

Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson’s disease

المؤلفون: Joanna L. Elson, Ilse S. Pienaar, Gavin Hudson, Christopher Morris, Alexander G. Bury, Laura C. Greaves, Angela Pyle

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b979251610e7fd0640c5ea841533a389Test

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