المؤلفون: Yu-Ting Huang, Hannah R. Crick, Helena Chaytow, Dinja van der Hoorn, Abrar Alhindi, Ross A. Jones, Ralph D. Hector, Stuart R. Cobb, Thomas H. Gillingwater

المصدر: Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 617-628 (2023)

مصطلحات موضوعية: MT: Delivery strategies, neuromuscular junction, NMJ, mouse, gene therapy, DOK7, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253123002093; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/144e9889a3c544119b067184d54902d8

المؤلفون: Ji Young Kim, Yuntao Bai, Laura A. Jayne, Ralph D. Hector, Avinash K. Persaud, Su Sien Ong, Shreshtha Rojesh, Radhika Raj, Mei Ji He Ho Feng, Sangwoon Chung, Rachel E. Cianciolo, John W. Christman, Moray J. Campbell, David S. Gardner, Sharyn D. Baker, Alex Sparreboom, Rajgopal Govindarajan, Harpreet Singh, Taosheng Chen, Ming Poi, Katalin Susztak, Stuart R. Cobb, Navjot Singh Pabla

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/f36413dcdc0f4c47bbdac00ac1a34b20

المؤلفون: Elena Burlacu, Fredrik Lackmann, Lisbeth-Carolina Aguilar, Sergey Belikov, Rob van Nues, Christian Trahan, Ralph D. Hector, Nicholas Dominelli-Whiteley, Scott L. Cockroft, Lars Wieslander, Marlene Oeffinger, Sander Granneman

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/1da14d21505f4421859e388161a68673

المؤلفون: Sarah E. Sinnett, Ralph D. Hector, Kamal K.E. Gadalla, Clifford Heindel, Daphne Chen, Violeta Zaric, Mark E.S. Bailey, Stuart R. Cobb, Steven J. Gray

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 5, Iss C, Pp 106-115 (2017)

مصطلحات موضوعية: Rett syndrome, MeCP2, cisterna magna, intrathecal, microRNA, AAV, viral vector, Mecp2−/y, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S232905011730061X; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/4e66309230e84338a6ba9fd000c7402a

المؤلفون: Kamal K.E. Gadalla, Thishnapha Vudhironarit, Ralph D. Hector, Sarah Sinnett, Noha G. Bahey, Mark E.S. Bailey, Steven J. Gray, Stuart R. Cobb

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 5, Iss C, Pp 180-190 (2017)

مصطلحات موضوعية: Rett syndrome. MECP2, adeno-associated virus, gene therapy, neurodevelopmental disorder, autism, vector, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050117300621; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/c7439aa4d23147af8550aac8afe957c5

المؤلفون: Marie Garvey, Rachel Lyons, Ralph D. Hector, CATHAL WALSH, SEAN ARKINS, ANNE CULLINAN

مصطلحات موضوعية: EHV-1, multi-locus typing, ORF68, neuropathogenic marker

Relation: 10344/7507; https://figshare.com/articles/journal_contribution/Molecular_characterisation_of_equine_herpesvirus_1_isolates_from_cases_of_abortion_respiratory_and_neurological_disease_in_Ireland_between_1990_and_2017/19814080

الاتاحة: https://figshare.com/articles/journal_contribution/Molecular_characterisation_of_equine_herpesvirus_1_isolates_from_cases_of_abortion_respiratory_and_neurological_disease_in_Ireland_between_1990_and_2017/19814080

المؤلفون: Marie Garvey, Nicolás M. Suárez, Karen Kerr, Ralph D. Hector, Laura Moloney-Quinn, SEAN ARKINS, Andrew J. Davison, Ann Cullinane

مصطلحات موضوعية: Equid herpesvirus 8, donkeys, genome, horses, abortion

Relation: 10344/6562; https://figshare.com/articles/journal_contribution/Equid_herpesvirus_8_complete_genome_sequence_and_association_with_abortion_in_mares/19821094

الاتاحة: https://figshare.com/articles/journal_contribution/Equid_herpesvirus_8_complete_genome_sequence_and_association_with_abortion_in_mares/19821094

المؤلفون: Ralph D Hector, Owen Dando, Nicoletta Landsberger, Charlotte Kilstrup-Nielsen, Peter C Kind, Mark E S Bailey, Stuart R Cobb

المصدر: PLoS ONE, Vol 11, Iss 6, p e0157758 (2016)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC4912119?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/9a584d0583cf4017904a95080225be63

الاتاحة: https://doi.org/10.1371/journal.pone.0157758
https://doaj.org/article/9a584d0583cf4017904a95080225be63

المؤلفون: Aidan Dolan, Charles Cunningham, Ralph D. Hector, Aycan F. Hassan-walker, Lydia Lee, Clare Addison, Derrick J. Dargan, Duncan J. Mcgeoch, Derek Gatherer, Vincent C. Emery, Paul D. Griffiths, Christian Sinzger, Brian P. Mcsharry, Gavin W. G. Wilkinson, Andrew J. Davison

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://vir.sgmjournals.org/content/85/5/1301.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.2137; http://vir.sgmjournals.org/content/85/5/1301.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.2137
http://vir.sgmjournals.org/content/85/5/1301.full.pdf

المؤلفون: Jim Selfridge, Martha V. Koerner, Stuart Cobb, Ralph D. Hector, Adrian Bird, Kamal K.E. Gadalla, Diana De Sousa, Rebekah Tillotson, Jacky Guy

المصدر: Tillotson, R, Selfridge, J, Koerner, M V, Gadalla, K K E, Guy, J, Sousa, D D, Hector, R D, Cobb, S R & Bird, A 2017, ' Radically truncated MeCP2 rescues Rett syndrome-like neurological defects ', Nature, vol. 550, pp. 398-401 . https://doi.org/10.1038/nature24058
Nature

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Methyl-CpG-Binding Protein 2, autism spectrum disorders, Protein domain, Mutation, Missense, Rett syndrome, Biology, Article, Conserved sequence, MECP2, Mice, 03 medical and health sciences, 0302 clinical medicine, Protein Domains, Neurobiology, Transduction, Genetic, Rett Syndrome, medicine, Animals, Humans, Epigenetics, Sequence Deletion, Genetics, DNA methylation, Multidisciplinary, Protein Stability, Genetic Complementation Test, Brain, 3T3 Cells, DNA, Genetic Therapy, medicine.disease, Chromatin, Phenotype, 030104 developmental biology, Mutation, 030217 neurology & neurosurgery, HeLa Cells, Binding domain

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8baa1c6db53ce914041a3565714eceed
https://doi.org/10.1038/nature24058

المؤلفون: Stuart Cobb, Owen Dando, Peter C. Kind, Tuula E. Ritakari, Ralph D. Hector, Mark E.S. Bailey

المصدر: Hector, R D, Dando, O, Ritakari, T E, Kind, P C, Bailey, M E S & Cobb, S R 2017, ' Characterisation of Cdkl5transcript isoforms in rat ', Gene, vol. 603, pp. 21-26 . https://doi.org/10.1016/j.gene.2016.12.001

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Gene isoform, CDKL5, Gene Expression, Protein Serine-Threonine Kinases, Biology, Transcript isoforms, Mice, Open Reading Frames, 03 medical and health sciences, Exon, 0302 clinical medicine, Sequence Homology, Nucleic Acid, Genetics, Animals, Humans, Protein Isoforms, splice, 3' Untranslated Regions, Gene, Brain Chemistry, Exons, General Medicine, Molecular biology, Introns, Rats, Alternative Splicing, 030104 developmental biology, Organ Specificity, CDKL5 Disorder, RNA Splice Sites, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a46c06c8a30e957b4bda8b5401c5260
https://doi.org/10.1016/j.gene.2016.12.001

المؤلفون: Kamal K.E. Gadalla, Paul D. Ross, Mark E.S. Bailey, Ralph D. Hector, Stuart Cobb, Noha Gamal Bahey

المصدر: Future Neurology. 10:467-484

مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Genetic enhancement, Rett syndrome, Neurological disorder, Biology, medicine.disease_cause, medicine.disease, MECP2, Neurology, medicine, Neurology (clinical), Gene, Adeno-associated virus, X chromosome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d48b62b2221bc624f9535a67040db09e
https://doi.org/10.2217/fnl.15.29

المؤلفون: Ann Cullinane, Marie Garvey, Nicolás M. Suárez, Ralph D. Hector, Sean Arkins, Andrew J. Davison, Karen Kerr, Laura Moloney-Quinn

المساهمون: IRC, Medical Research Council

المصدر: PLoS ONE
PLoS ONE, Vol 13, Iss 2, p e0192301 (2018)

مصطلحات موضوعية: 0301 basic medicine, Genes, Viral, Glycobiology, Genome, Biochemistry, Polymerase Chain Reaction, 0403 veterinary science, Database and Informatics Methods, Tegument Proteins, Varicellovirus, Asses, Phylogeny, horses, Genetics, Mammals, Multidisciplinary, Phylogenetic tree, donkeys, Eukaryota, 04 agricultural and veterinary sciences, Genomics, Herpesviridae Infections, Abortion, Veterinary, 3. Good health, Vertebrates, Medicine, Sequence Analysis, Research Article, DNA Replication, 040301 veterinary sciences, Bioinformatics, Science, Equines, Sequence alignment, Biology, Viral Structure, Research and Analysis Methods, Microbiology, 03 medical and health sciences, Open Reading Frames, Phylogenetics, Virology, DNA-binding proteins, Equid herpesvirus 8, Animals, Horses, Gene, genome, Illumina dye sequencing, Glycoproteins, Comparative genomics, Whole genome sequencing, Virus Glycoproteins, Sequence Assembly Tools, Organisms, Biology and Life Sciences, Computational Biology, Proteins, Comparative Genomics, Genome Analysis, abortion, 030104 developmental biology, Amniotes, Horse Diseases, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b7f0620df3266c36740a1046c3e28f

المؤلفون: Ralph D. Hector, Linda Scobie, Giada Mattiuzzo, Pavel Vesely, Yasuhiro Takeuchi, Jirˇí Hejnar, Petr Daniel, Magda Matouskova

المصدر: Journal of Virology. 87:12110-12120

مصطلحات موضوعية: Permissiveness, Swine, Immunology, Endogenous retrovirus, Biology, Kidney, Real-Time Polymerase Chain Reaction, Virus Replication, Microbiology, Epigenesis, Genetic, Proviruses, Transcription (biology), Virology, Animals, Humans, RNA, Messenger, Epigenetics, Cells, Cultured, Swine Diseases, Reverse Transcriptase Polymerase Chain Reaction, Endogenous Retroviruses, Terminal Repeat Sequences, Methylation, DNA Methylation, Molecular biology, Long terminal repeat, Genome Replication and Regulation of Viral Gene Expression, Viral replication, Insect Science, DNA, Viral, DNA methylation, Swine, Miniature

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ee6832db4185a1fb6191ac4d590110
https://doi.org/10.1128/jvi.03262-12

المؤلفون: Sarah E, Sinnett, Ralph D, Hector, Kamal K E, Gadalla, Clifford, Heindel, Daphne, Chen, Violeta, Zaric, Mark E S, Bailey, Stuart R, Cobb, Steven J, Gray

المصدر: Molecular Therapy. Methods & Clinical Development

مصطلحات موضوعية: intrathecal, congenital, hereditary, and neonatal diseases and abnormalities, Rett syndrome, microRNA, viral vector, Mecp2 −/y, Original Article, AAV, cisterna magna, MeCP2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a9728e46367f2089eb1d12a614c60ca5
https://pubmed.ncbi.nlm.nih.gov/28497072

المؤلفون: Ralph D. Hector, Louise Grant, Anne A Nielsen, Linda Scobie, James C. Neil, Margaret Bell, Sharon Meikle, Karen Blyth, Adrain Philbey, Adrain J Thrasher, Ewan R. Cameron

المصدر: Scobie, L, Hector, R D, Grant, L, Bell, M, Nielsen, A A, Meikle, S, Philbey, A, Thrasher, A J, Cameron, E R, Blyth, K & Neil, J C 2009, ' A novel model of SCID-X1 reconstitution reveals predisposition to retrovirus-induced lymphoma but no evidence of gammaC gene oncogenicity ', Molecular Therapy, vol. 17, no. 6, pp. 1031–1038 . https://doi.org/10.1038/mt.2009.59

مصطلحات موضوعية: Lymphoma, T-Lymphocytes, Genetic enhancement, X-Linked Combined Immunodeficiency Diseases, Polymerase Chain Reaction, Mice, 0302 clinical medicine, Drug Discovery, Murine leukemia virus, Promoter Regions, Genetic, B-Lymphocytes, 0303 health sciences, Flow Cytometry, 3. Good health, Leukemia, 030220 oncology & carcinogenesis, Molecular Medicine, Interleukin Receptor Common gamma Subunit, Genetically modified mouse, Genotype, Transgene, Blotting, Western, CD2 Antigens, Mice, Transgenic, Thymus Gland, In Vitro Techniques, Biology, Immunophenotyping, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Molecular Biology, 030304 developmental biology, Pharmacology, Severe combined immunodeficiency, Original Articles, Genetic Therapy, medicine.disease, biology.organism_classification, eye diseases, Retroviridae, Immunology, Ectopic expression, CD8

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c6e7ee02e539828a307c762c9f544d
https://doi.org/10.1038/mt.2009.59

المؤلفون: Jean D. Beggs, Jane E. A. Reid, Yuanhua Huang, Guido Sanguinetti, Ralph D. Hector, Sander Granneman, J. David Barrass

المصدر: Barrass, J D, Reid, J E A, Huang, Y, Hector, R D, Sanguinetti, G, Beggs, J D & Granneman, S 2015, ' Transcriptome-wide RNA processing kinetics revealed using extremely short 4tU labeling ', Genome Biology, vol. 16, no. 1, pp. 282-. https://doi.org/10.1186/s13059-015-0848-1
Genome Biology

مصطلحات موضوعية: RNA Stability, RNA, Untranslated, Saccharomyces cerevisiae, yeast, Splicing, Thiouracil, cryptic transcripts, Transcriptome, 03 medical and health sciences, splicing, 0302 clinical medicine, Transcription (biology), Ribosomal protein, metabolic labeling, RNA, Messenger, RNA Processing, Post-Transcriptional, 030304 developmental biology, 0303 health sciences, biology, Research, Intron, RNA, RNA sequencing, biology.organism_classification, Molecular biology, Yeast, Introns, Biochemistry, RNA splicing, Nucleic Acid Conformation, Cryptic transcripts, Metabolic labeling, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70f83fd41e42bc3ebfdf44b68ba4b796
https://hdl.handle.net/20.500.11820/cd74291e-f9ec-46d8-b788-2f66b46c36ee

المؤلفون: Derrick J. Dargan, Clare Addison, Vincent C. Emery, Andrew J. Davison, Charles Cunningham, Aycan F. Hassan-Walker, Lydia Lee, Derek Gatherer, Duncan J. McGeoch, Aidan Dolan, Ralph D. Hector, Gavin William Grahame Wilkinson, Brian P. McSharry, Paul D. Griffiths, Christian Sinzger

المصدر: Journal of General Virology. 85:1301-1312

مصطلحات موضوعية: Genes, Viral, Molecular Sequence Data, Cytomegalovirus, Sequence alignment, Genome, Viral, Biology, medicine.disease_cause, Genome, Viral Proteins, Virology, Genetic variation, medicine, Humans, Gene family, Amino Acid Sequence, Gene, Phylogeny, Genetics, Whole genome sequencing, Mutation, Wild type, Genetic Variation, Chemokines, CXC, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d50df606826becef022690292770f0
https://doi.org/10.1099/vir.0.79888-0

المؤلفون: Janet E Hogg, Dairena Gaffney, A M Wallace, Michelle M Coleman, Ralph D. Hector

المصدر: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 39:293-303

مصطلحات موضوعية: Adult, Male, Proband, Pathology, medicine.medical_specialty, Genotype, DNA Mutational Analysis, Clinical Biochemistry, Biology, Polymerase Chain Reaction, law.invention, law, medicine, Humans, Congenital adrenal hyperplasia, Genetic Testing, Allele, Alleles, Polymerase chain reaction, Southern blot, Genetics, Polymorphism, Genetic, Adrenal Hyperplasia, Congenital, Infant, Newborn, Intron, Infant, General Medicine, medicine.disease, Phenotype, Introns, Pedigree, Blotting, Southern, Scotland, Mutation, Autoradiography, Female, RNA Splice Sites

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a12a31b1bab4f4e72d62d03c028a6fb2
https://doi.org/10.1258/0004563021901991

المؤلفون: Judith Armstrong, Stuart Cobb, Mercedes Pineda, Friederike Hennig, Mark E.S. Bailey, Jenny Downs, Helen Leonard, Tim A. Benke, Angus John Clarke, Vera M. Kalscheuer, Ralph D. Hector

المصدر: NEUROLOGY-GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Neurology Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Hector, R D, Kalscheuer, V M, Hennig, F, Leonard, H, Downs, J, Clarke, A, Benke, T A, Armstrong, J, Pineda, M, Bailey, M E S & Cobb, S R 2017, ' CDKL5 variants: improving our understanding of a rare neurological disorder ', Neurology Genetics, vol. 3, no. 6 . https://doi.org/10.1212/NXG.0000000000000200

مصطلحات موضوعية: 0301 basic medicine, education.field_of_study, Population, CDKL5, Computational biology, Disease, Biology, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, RNA splicing, Genetic variation, Missense mutation, Neurology (clinical), education, Gene, 030217 neurology & neurosurgery, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac1d259bccaf2c1cb0284876ef3a3c4
https://doi.org/10.1212/nxg.0000000000000200