المؤلفون: Paul E. Sladen, Pedro R.L. Perdigão, Grace Salsbury, Tatiana Novoselova, Jacqueline van der Spuy, J. Paul Chapple, Patrick Yu-Wai-Man, Michael E. Cheetham

المصدر: Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 432-443 (2021)

مصطلحات موضوعية: mitochondria, gene editing, CRISPR, gene correction, iPSC, optic atrophy, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253121002092; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/d52d4e05c1eb45a79497e28aa0a85bf6

المؤلفون: Michael E. Cheetham, Patrick Yu-Wai-Man, Tatiana V. Novoselova, J. Paul Chapple, Grace Salsbury, Jacqueline van der Spuy, Pedro R.L. Perdigão, Paul Edward Sladen

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

المصدر: Molecular Therapy: Nucleic Acids, Vol 26, Iss, Pp 432-443 (2021)
Molecular Therapy. Nucleic Acids

مصطلحات موضوعية: Mitochondrial DNA, endocrine system, Mutant, RM1-950, Biology, Mitochondrion, bioenergetics, Retinal ganglion, OPA1, Atrophy, Drug Discovery, medicine, optic atrophy, retinal ganglion cell, Induced pluripotent stem cell, Gene, iPSC, gene editing, apoptosis, medicine.disease, eye diseases, Cell biology, mitochondria, medicine.anatomical_structure, Retinal ganglion cell, gene correction, CRISPR, Molecular Medicine, Original Article, Therapeutics. Pharmacology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ac57991f6567a0b0f735d22c87eee3
http://www.sciencedirect.com/science/article/pii/S2162253121002092

المؤلفون: Paul E Sladen, Katarina Jovanovic, Rosellina Guarascio, Daniele Ottaviani, Grace Salsbury, Tatiana Novoselova, J Paul Chapple, Patrick Yu-Wai-Man, Michael E Cheetham

مصطلحات موضوعية: Retinal Ganglion Cells, Induced Pluripotent Stem Cells, Optic Atrophy, Autosomal Dominant, Genetics, Humans, General Medicine, DNA, Mitochondrial, Molecular Biology, Genetics (clinical), GTP Phosphohydrolases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edb2bf5c7a9002b3ea0a8252dff47ee5
https://hdl.handle.net/11577/3488420

المؤلفون: Grace Salsbury, Scott A Akker, Charlotte L Hall, Paul Chapple, Jordan E Read, Eugenie Lim

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Transcriptome, biology, Chemistry, SDHB, Succinate dehydrogenase, Protein subunit, biology.protein, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d41f65ce84e1502e12172e239fcdf083
https://doi.org/10.1530/endoabs.77.oc2.6

المؤلفون: Jordan E Read, Scott A Akker, Katiuscia Bianchi, Grace Salsbury, Paul Chapple, Charlotte L Hall, Eugenie S Lim, Valle Morales

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Neuroblastoma cell, Metabolomics, biology, Chemistry, Protein subunit, Succinate dehydrogenase, biology.protein, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::806ee57d6d4a38e8157147ea1c3f6996
https://doi.org/10.1530/endoabs.77.lb39

المؤلفون: Erich E. Wanker, Rebecca E Milton, Grace Salsbury, Rachel Flomen, Caroline L Benn, Marie Katrin Bondulich, Michael Flower, Franziska Schindler, Casandra Gomez-Paredes, Edward J Smith, Gillian P. Bates, Georgina F Osborne, Daniel Goodwin, Sarah J. Tabrizi, Christian Landles, Kirupa Sathasivam, Nadira Ali

المصدر: Brain Communications

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, huntingtin aggregation and seeding, Somatic cell, Biology, medicine.disease_cause, Inclusion bodies, Pathogenesis, 03 medical and health sciences, Exon, 0302 clinical medicine, Huntington's disease, mental disorders, medicine, Mutation, AcademicSubjects/SCI01870, General Engineering, somatic CAG instability, medicine.disease, transcriptional dysregulation, nervous system diseases, Cell biology, 030104 developmental biology, Original Article, AcademicSubjects/MED00310, Trinucleotide repeat expansion, polyglutamine, 030217 neurology & neurosurgery, Huntington’s disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90ca5c02cb40ecbafa555fd538819308
https://doi.org/10.1093/braincomms/fcaa066

المؤلفون: Daniel Goodwin, Rebecca E Milton, Gillian P. Bates, Christian Landles, Nadira Ali, Grace Salsbury

المصدر: Pathogenic mechanisms.

مصطلحات موضوعية: medicine.anatomical_structure, Chemistry, medicine, Nucleus, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7f78d0eb754945aa6728fd3a39386361
https://doi.org/10.1136/jnnp-2018-ehdn.20

المؤلفون: Jacqueline K. White, Anna-Karin Gerdin, Natasha A. Karp, Ed Ryder, Marija Buljan, James N. Bussell, Jennifer Salisbury, Simon Clare, Neil J. Ingham, Christine Podrini, Richard Houghton, Jeanne Estabel, Joanna R. Bottomley, David G. Melvin, David Sunter, Niels C. Adams, David Tannahill, Darren W. Logan, Daniel G. MacArthur, Jonathan Flint, Vinit B. Mahajan, Stephen H. Tsang, Ian Smyth, Fiona M. Watt, William C. Skarnes, Gordon Dougan, David J. Adams, Ramiro Ramirez-Solis, Allan Bradley, Karen P. Steel, Lauren Baker, Caroline Barnes, Ryan Beveridge, Emma Cambridge, Damian Carragher, Prabhjoat Chana, Kay Clarke, Yvette Hooks, Natalia Igosheva, Ozama Ismail, Hannah Jackson, Leanne Kane, Rosalind Lacey, David Tino Lafont, Mark Lucas, Simon Maguire, Katherine McGill, Rebecca E. McIntyre, Sophie Messager, Lynda Mottram, Lee Mulderrig, Selina Pearson, Hayley J. Protheroe, Laura-Anne Roberson, Grace Salsbury, Mark Sanderson, Daniel Sanger, Carl Shannon, Paul C. Thompson, Elizabeth Tuck, Valerie E. Vancollie, Lisa Brackenbury, Wendy Bushell, Ross Cook, Priya Dalvi, Diane Gleeson, Bishoy Habib, Matt Hardy, Kifayathullah Liakath-Ali, Evelina Miklejewska, Stacey Price, Debarati Sethi, Elizabeth Trenchard, Dominique von Schiller, Sapna Vyas, Anthony P. West, John Woodward, Elizabeth Wynn, Arthur Evans, David Gannon, Mark Griffiths, Simon Holroyd, Vivek Iyer, Christian Kipp, Morag Lewis, Wei Li, Darren Oakley, David Richardson, Damian Smedley, Chukwuma Agu, Jackie Bryant, Liz Delaney, Nadia I. Gueorguieva, Helen Tharagonnet, Anne J. Townsend, Daniel Biggs, Ellen Brown, Adam Collinson, Charles-Etienne Dumeau, Evelyn Grau, Sarah Harrison, James Harrison, Catherine E. Ingle, Helen Kundi, Alla Madich, Danielle Mayhew, Tom Metcalf, Stuart Newman, Johanna Pass, Laila Pearson, Helen Reynolds, Caroline Sinclair, Hannah Wardle-Jones, Michael Woods, Liam Alexander, Terry Brown, Francesca Flack, Carole Frost, Nicola Griggs, Silvia Hrnciarova, Andrea Kirton, Jordan McDermott, Claire Rogerson, Gemma White, Pawel Zielezinski, Tia DiTommaso, Andrew Edwards, Emma Heath, Mary Ann Mahajan, Binnaz Yalcin

المساهمون: The Wellcome Trust Sanger Institute [Cambridge], The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford, University of Iowa [Iowa City], Monash University [Melbourne], Wellcome Trust - MRC Cambridge, Columbia University [New York], University of Cambridge [UK] (CAM), Wolfson Centre for Age-Related Diseases [Londres, Royaume-Uni], Guy's Campus [Londres, Royaume-Uni], King‘s College London-King‘s College London, Sanger Institute Mouse Genetics Project: Lauren Baker, Caroline Barnes, Ryan Beveridge, Emma Cambridge, Damian Carragher, Prabhjoat Chana, Kay Clarke, Yvette Hooks, Natalia Igosheva, Ozama Ismail, Hannah Jackson, Leanne Kane, Rosalind Lacey, David Tino Lafont, Mark Lucas, Simon Maguire, Katherine McGill, Rebecca E McIntyre, Sophie Messager, Lynda Mottram, Lee Mulderrig, Selina Pearson, Hayley J Protheroe, Laura-Anne Roberson, Grace Salsbury, Mark Sanderson, Daniel Sanger, Carl Shannon, Paul C Thompson, Elizabeth Tuck, Valerie E Vancollie, Lisa Brackenbury, Wendy Bushell, Ross Cook, Priya Dalvi, Diane Gleeson, Bishoy Habib, Matt Hardy, Kifayathullah Liakath-Ali, Evelina Miklejewska, Stacey Price, Debarati Sethi, Elizabeth Trenchard, Dominique von Schiller, Sapna Vyas, Anthony P West, John Woodward, Elizabeth Wynn, Arthur Evans, David Gannon, Mark Griffiths, Simon Holroyd, Vivek Iyer, Christian Kipp, Morag Lewis, Wei Li, Darren Oakley, David Richardson, Damian Smedley, Chukwuma Agu, Jackie Bryant, Liz Delaney, Nadia I Gueorguieva, Helen Tharagonnet, Anne J Townsend, Daniel Biggs, Ellen Brown, Adam Collinson, Charles-Etienne Dumeau, Evelyn Grau, Sarah Harrison, James Harrison, Catherine E Ingle, Helen Kundi, Alla Madich, Danielle Mayhew, Tom Metcalf, Stuart Newman, Johanna Pass, Laila Pearson, Helen Reynolds, Caroline Sinclair, Hannah Wardle-Jones, Michael Woods, Liam Alexander, Terry Brown, Francesca Flack, Carole Frost, Nicola Griggs, Silvia Hrnciarova, Andrea Kirton, Jordan McDermott, Claire Rogerson, Gemma White, Pawel Zielezinski, Tia Ditommaso, Andrew Edwards, Emma Heath, Mary Ann Mahajan, Binnaz Yalcin., Dupuis, Christine, Estabel, Jeanne [0000-0002-4472-3820], Tannahill, David [0000-0002-3811-6864], Dougan, Gordon [0000-0003-0022-965X], Bradley, Allan [0000-0002-2349-8839], Apollo - University of Cambridge Repository

المصدر: Cell
Cell; Vol 154
Cell, 2013, 154, pp.452-464. ⟨10.1016/j.cell.2013.06.022⟩

مصطلحات موضوعية: Resource, Male, [SDV]Life Sciences [q-bio], Mutant, Genome-wide association study, Biology, Genome, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Mice, 0302 clinical medicine, Animals, Disease, Gene, 030304 developmental biology, Genetics, Mice, Knockout, 0303 health sciences, Genes, Essential, Biochemistry, Genetics and Molecular Biology(all), Robustness (evolution), Phenotype, [SDV] Life Sciences [q-bio], Disease Models, Animal, Genetic Techniques, Knockout mouse, Female, Haploinsufficiency, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4537fde4bfb5a641d2d4531b15325c7
http://europepmc.org/articles/PMC3717207

المؤلفون: Grace Salsbury, Emma L. Cambridge, Zoe McIntyre, Mark J. Arends, Natasha A. Karp, Christopher Isherwood, Carl Shannon, Yvette Hooks, Ramiro Ramirez-Solis, David J. Adams, Jacqueline K. White, Anneliese O. Speak

المصدر: Experimental Hematology

مصطلحات موضوعية: 0303 health sciences, 03 medical and health sciences, Cancer Research, 0302 clinical medicine, 030220 oncology & carcinogenesis, Genetics, Cell Biology, Hematology, Molecular Biology, Normal Hematopoiesis, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26d2169d4b59a024aaf74a8378e3b316
https://doi.org/10.1016/j.exphem.2015.03.002

المؤلفون: Emma L. Cambridge, Anneliese O. Speak, Natasha A. Karp, Zoe McIntyre, David J. Adams, Jacqueline K. White, Mark J. Arends, Yvette Hooks, Christopher Isherwood, Ramiro Ramirez-Solis, Carl Shannon, Grace Salsbury

المصدر: Salsbury, G, Cambridge, E L, McIntyre, Z, Arends, M J, Karp, N A, Isherwood, C, Shannon, C, Hooks, Y, Ramirez-Solis, R, Adams, D J & White, J K & Speak, A O 2014, ' Disruption of the potassium channel regulatory subunit Kcne2 causes iron-deficient anemia ', Experimental Hematology . https://doi.org/10.1016/j.exphem.2014.07.269
Experimental Hematology

مصطلحات موضوعية: Erythrocyte Indices, Male, Cancer Research, Potassium, Kcne2, Mice, iron, 0302 clinical medicine, gastric pH, Mice, Knockout, chemistry.chemical_classification, Sex Characteristics, 0303 health sciences, Anemia, Iron-Deficiency, biology, Transferrin, KCNE2, Hematology, anemia, Potassium channel, Specific Pathogen-Free Organisms, Phenotype, Hematocrit, Biochemistry, Potassium Channels, Voltage-Gated, 030220 oncology & carcinogenesis, KCNQ1 Potassium Channel, Female, Erratum, medicine.drug, medicine.medical_specialty, Anemia, chemistry.chemical_element, Ferrous, Genetic Heterogeneity, 03 medical and health sciences, Species Specificity, Internal medicine, Genetics, medicine, Animals, Humans, Erythropoietin, Molecular Biology, 030304 developmental biology, Cell Biology, medicine.disease, Solute carrier family, Mice, Inbred C57BL, Endocrinology, chemistry, Diet, Western, Ferritins, biology.protein, Ferric

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c86899b69ac7498cad15e0f159df6cba