المؤلفون: Beatriz Maio, Nagore Elu, Cristina Martinez-Gonzalez, Emily K. Osterweil, Susana R. Louros

المصدر: STAR Protocols, Vol 5, Iss 4, Pp 103482- (2024)

مصطلحات موضوعية: microscopy, model organisms, neuroscience, Science (General), Q1-390

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666166724006476; https://doaj.org/toc/2666-1667

URL الوصول: https://doaj.org/article/ebb9e9df8d8f43a3ac7bcebecb88ef4d

المؤلفون: Laura Simões de Oliveira, Heather E. O’Leary, Sarfaraz Nawaz, Rita Loureiro, Elizabeth C. Davenport, Paul Baxter, Susana R. Louros, Owen Dando, Emma Perkins, Julien Peltier, Matthias Trost, Emily K. Osterweil, Giles E. Hardingham, Michael A. Cousin, Sumantra Chattarji, Sam A. Booker, Tim A. Benke, David J. A Wyllie, Peter C. Kind

المصدر: Molecular Autism, Vol 15, Iss 1, Pp 1-21 (2024)

مصطلحات موضوعية: CDKL5, rat, hippocampus, synaptic plasticity, intrinsic properties, AMPA receptor, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/ae255dae432e41748c4459655b5be30f

المؤلفون: Nagore Elu, Srividya Subash, Susana R. Louros

المصدر: Frontiers in Molecular Neuroscience, Vol 17 (2024)

مصطلحات موضوعية: ubiquitin, translation, splicing, ribosome, neurodevelopmental disorders, FMRP, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2024.1398048/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/5aadd2d0f24f447b94e256b494448f4f

المؤلفون: Sang S. Seo, Susana R. Louros, Natasha Anstey, Miguel A. Gonzalez-Lozano, Callista B. Harper, Nicholas C. Verity, Owen Dando, Sophie R. Thomson, Jennifer C. Darnell, Peter C. Kind, Ka Wan Li, Emily K. Osterweil

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/8ae6ea90e044406685e3c0bd724e960e

المؤلفون: Susana R. Louros, Gladys L. Caldeira, Ana Luísa Carvalho

المصدر: Frontiers in Molecular Neuroscience, Vol 11 (2018)

مصطلحات موضوعية: homeostatic plasticity, stargazin, AMPA receptors, synaptic downscaling, membrane trafficking, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnmol.2018.00328/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/194cba42f34245cd9825a9ac4718fa5e

المؤلفون: Susana R. Louros, Bryan M. Hooks, Liza Litvina, Ana Luisa Carvalho, Chinfei Chen

المصدر: Cell Reports, Vol 7, Iss 5, Pp 1614-1625 (2014)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124714003726; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/63255685a196417993901fabd4fe21d6

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/journal_contribution/The_file_have_details_for_S1-S44_Figs_S1-S3_Tables_and_S1-S6_Notes_/15166575

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.s002

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/journal_contribution/S1_Raw_images_-/15166578

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.s003

المؤلفون: Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick

المصدر: PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1371/journal.pone.0256181; https://doaj.org/toc/1932-6203; https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db

الاتاحة: https://doi.org/10.1371/journal.pone.0256181
https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db

المؤلفون: Susana R. Louros, Gladys L. Caldeira, Ana Luísa Carvalho

مصطلحات موضوعية: Molecular Biology, Neuroscience, Structural Biology, Central Nervous System, Molecular Evolution, Molecular Medicine, homeostatic plasticity, stargazin, AMPA receptors, synaptic downscaling, membrane trafficking

Relation: https://figshare.com/articles/presentation/Presentation_1_Stargazin_Dephosphorylation_Mediates_Homeostatic_Synaptic_Downscaling_of_Excitatory_Synapses_pdf/7081337

الاتاحة: https://doi.org/10.3389/fnmol.2018.00328.s001
https://figshare.com/articles/presentation/Presentation_1_Stargazin_Dephosphorylation_Mediates_Homeostatic_Synaptic_Downscaling_of_Excitatory_Synapses_pdf/7081337

المؤلفون: Gladys L. Caldeira, R. P. Gouveia, Carlos A. V. Barreto, João Peça, Mohamed Edfawy, Ana Luísa Carvalho, Nuno Beltrão, A. S. Inacio, Joana R. Guedes, R. Macedo, B. Cruz, Susana R. Louros, Irina S. Moreira, Tiago Rondão, M. V. Rodrigues

المصدر: Molecular Psychiatry. 27:2457-2469

مصطلحات موضوعية: Mutation, Hippocampus, AMPA receptor, Hippocampal formation, Neurotransmission, Biology, medicine.disease_cause, Transmembrane protein, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Excitatory synapse, medicine, Receptor, Neuroscience, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3b388ee4abf1d00e2ec4917aa9ca444
https://doi.org/10.1038/s41380-022-01487-w

المؤلفون: Susana R. Louros, Sang S. Seo, Beatriz Maio, Cristina Martinez-Gonzalez, Miguel A. Gonzalez-Lozano, Melania Muscas, Nick C. Verity, Jimi C. Wills, Ka Wan Li, Matthew F. Nolan, Emily K. Osterweil

المساهمون: Molecular and Cellular Neurobiology, AIMMS, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Neurodegeneration

المصدر: Louros, S R, Seo, S S, Maio, B, Martinez-Gonzalez, C, Gonzalez-Lozano, M A, Muscas, M, Verity, N C, Wills, J C, Li, K W, Nolan, M F & Osterweil, E K 2023, ' Excessive proteostasis contributes to pathology in fragile X syndrome ', Neuron, vol. 111, no. 4, pp. 508-525.e7 . https://doi.org/10.1016/j.neuron.2022.11.012
Ribeiro dos Louros, S, Seo, S, Maio, B, Martinez Gonzalez, C, Gonzalez-Lozano, M A, Muscas, M, Verity, N, Wills, J, Li, K W, Nolan, M F & Osterweil, E 2022, ' Excessive proteostasis contributes to pathology in Fragile X Syndrome ', Neuron . https://doi.org/10.1016/j.neuron.2022.11.012
Neuron, 111(4), 508-525.e7. Cell Press

مصطلحات موضوعية: AGS, proteostasis, General Neuroscience, bortezomib, fragile X, PSMB5, UPS, inferior colliculus, proteasome, SDG 3 - Good Health and Well-being, FMR1, seizures

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be8a1937580ea55c98a7617827e2f94e
https://doi.org/10.1016/j.neuron.2022.11.012

المؤلفون: Sang S. Seo, Susana R. Louros, Natasha Anstey, Miguel A. Gonzalez-Lozano, Callista B. Harper, Nicholas C. Verity, Owen Dando, Sophie R. Thomson, Jennifer C. Darnell, Peter C. Kind, Ka Wan Li, Emily K. Osterweil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2190637137306e7721ec36cd611bab07
https://doi.org/10.1101/2022.04.07.487442

المؤلفون: Catherine M. Abbott, Mihail Halachev, Detelina Grozeva, Hugues Roest Crollius, F. Lucy Raymond, James Prendergast, Peter C. Kind, Hemant Bengani, Jacqueline K. Rainger, Laura C. Murphy, Liusaidh J Owen, Veronica van Heyningen, Adam Jackson, Lambert Moyon, Graeme R. Grimes, Olivera Spasic-Boskovic, Magali Naville, Emily K. Osterweil, Jilly Hope, David R. FitzPatrick, Shipra Bhatia, Susana R. Louros

المساهمون: MRC Institute of Genetics and Molecular Medicine [Edinburgh] (IGMM), University of Edinburgh-Medical Research Council, Institut de biologie de l'ENS Paris (IBENS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Edinburgh, University of Cambridge [UK] (CAM), Cardiff University, Cambridge University Hospitals NHS Foundation Trust, Institut de biologie de l'ENS Paris (UMR 8197/1024) (IBENS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Département de Biologie - ENS Paris, Département de Biologie - ENS Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Grozeva, Detelina [0000-0003-3239-8415], Moyon, Lambert [0000-0003-2390-3942], Bhatia, Shipra [0000-0002-2091-7858], Louros, Susana R. [0000-0002-1012-0386], Jackson, Adam [0000-0002-3554-6682], Prendergast, James G. [0000-0001-8916-018X], Owen, Liusaidh J. [0000-0003-0363-1775], Naville, Magali [0000-0002-6821-2427], Grimes, Graeme [0000-0002-3106-5996], Halachev, Mihail [0000-0002-4594-4588], Murphy, Laura C. [0000-0003-0029-0434], Spasic-Boskovic, Olivera [0000-0003-1583-8132], van Heyningen, Veronica [0000-0003-0359-0141], Abbott, Catherine M. [0000-0001-8794-7173], Osterweil, Emily [0000-0003-0582-2284], FitzPatrick, David R. [0000-0003-4861-969X], Apollo - University of Cambridge Repository, Louros, Susana R [0000-0002-1012-0386], Prendergast, James G [0000-0001-8916-018X], Owen, Liusaidh J [0000-0003-0363-1775], Murphy, Laura C [0000-0003-0029-0434], Abbott, Catherine M [0000-0001-8794-7173], FitzPatrick, David R [0000-0003-4861-969X]

المصدر: PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)
PLoS ONE
PLoS ONE, Public Library of Science, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩
Bengani, H, Grozeva, D, Moyon, L, Bhatia, S, Louros, S R, Hope, J, Jackson, A, Prendergast, J G, Owen, L J, Naville, M, Rainger, J, Grimes, G, Halachev, M, Murphy, L C, Spasic-Boskovic, O, van Heyningen, V, Kind, P, Abbott, C M, Osterweil, E, Raymond, F L, Roest Crollius, H & FitzPatrick, D R 2021, ' Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability ', PLoS ONE, vol. 16, no. 8, e0256181 . https://doi.org/10.1371/journal.pone.0256181

مصطلحات موضوعية: Male, Embryology, Embryo, Nonmammalian, X-linked intellectual disability, medicine.disease_cause, Hippocampus, Midbrain, Animals, Genetically Modified, Cohort Studies, Fragile X Mental Retardation Protein, Mice, 0302 clinical medicine, Gene Frequency, Genes, X-Linked, Medicine and Health Sciences, Exome, Regulatory Elements, Transcriptional, Zebrafish, X chromosome, Genetics, 0303 health sciences, education.field_of_study, Mutation, Mammalian Genomics, Multidisciplinary, Eukaryota, Brain, Chromosome Mapping, Tenascin, Animal Models, Genomics, Pedigree, Phenotype, Experimental Organism Systems, Osteichthyes, Vertebrates, Medicine, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Anatomy, Brainstem, Research Article, Genotype, Science, Population, Mouse Models, Nerve Tissue Proteins, Biology, Research and Analysis Methods, 03 medical and health sciences, Model Organisms, medicine, Animals, Humans, Allele, education, Gene, Alleles, 030304 developmental biology, Whole genome sequencing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Genome, Human, Embryos, Organisms, Biology and Life Sciences, medicine.disease, FMR1, Disease Models, Animal, Fish, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Animal Genomics, Genetic Loci, Animal Studies, Mental Retardation, X-Linked, Zoology, 030217 neurology & neurosurgery, Developmental Biology

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689bedb7f80332ef6f820a6237c9dcc3
https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db

المؤلفون: Laura C. Murphy, Shipra Bhatia, Jacqueline K. Rainger, Liusaidh J Owen, James Prendergast, Emily K. Osterweil, Lambert Moyon, Peter C. Kind, Susana R. Louros, Jilly Hope, David R. FitzPatrick, Olivera Spasic Boskovic, Lucy Raymond, Magali Naville, Detelina Grozeva, Hemant Bengani, Mihail Halachev, Graeme R. Grimes, Hugues Roest Crollius, Veronica van Heyningen, Catherine M. Abbott, Adam Jackson

مصطلحات موضوعية: Fragile X syndrome, Genetics, Proband, Whole genome sequencing, medicine, Coding region, Allele, Biology, medicine.disease, FMR1, Phenotype, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6925cd7e89301be8c718ea847b34bc22
https://doi.org/10.1101/2020.08.03.232926

المؤلفون: Sang S. Seo, Melania Muscas, Susana R. Louros, Emily K. Osterweil

المصدر: eNeuro
Muscas, M, Seo, S, Louros, S R & Osterweil, E 2020, ' A differential effect of lovastatin versus simvastatin in neurodevelopmental disorders ', eNeuro . https://doi.org/10.1523/ENEURO.0162-20.2020

مصطلحات موضوعية: MAPK/ERK pathway, Drug, Simvastatin, Statin, medicine.drug_class, media_common.quotation_subject, autism, fragile X, lovastatin, Pharmacology, fmr1, polycyclic compounds, medicine, Humans, media_common, business.industry, organic chemicals, General Neuroscience, Anticholesteremic Agents, nutritional and metabolic diseases, General Medicine, medicine.disease, FMR1, Fragile X syndrome, ERK, Neurodevelopmental Disorders, Fragile X Syndrome, Commentary, Autism, lipids (amino acids, peptides, and proteins), Disorders of the Nervous System, Lovastatin, business, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c288c29d6955089fbde1c9226e5881e0
https://pubmed.ncbi.nlm.nih.gov/32651266

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/dataset/List_of_coordinates_used_to_design_customized_capture_library_/15166572

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.s001

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/figure/Project_summary_and_XLID-associated_regulatory_variants_and_their_predicted_target_genes_/15166584

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.g001

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/figure/_i_TENM1_i_sup_CRE_sup_alters_enhancer_function_in_the_zebrafish_brain_by_creating_a_repressive_SIX3_binding_site_/15166587

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.g002

المؤلفون: Hemant Bengani (425074), Detelina Grozeva (4799844), Lambert Moyon (11273460), Shipra Bhatia (276505), Susana R. Louros (5743778), Jilly Hope (113496), Adam Jackson (6637928), James G. Prendergast (8038910), Liusaidh J. Owen (11273463), Magali Naville (668692), Jacqueline Rainger (555531), Graeme Grimes (11273466), Mihail Halachev (6444560), Laura C. Murphy (11273469), Olivera Spasic-Boskovic (6881501), Veronica van Heyningen (57737), Peter Kind (239748), Catherine M. Abbott (11273472), Emily Osterweil (11273475), F. Lucy Raymond (6062462), Hugues Roest Crollius (11273478), David R. FitzPatrick (11273481)

مصطلحات موضوعية: Genetics, Evolutionary Biology, Cancer, Biological Sciences not elsewhere classified, Targeted sequencing, TENM 1 CRE, CRE variants, genome sequencing, X chromosome, neurophysiological indicators, population frequency, chrX CRE, stage-specific differences, Tenm 1 CRE mice, CRE mutations, mouse models, highly-selected cohort, coding regions, mice Fmr 1 CRE, neurodevelopmental disorders, family history, XLID genes, zebrafish brain, bespoke nature, reporter assay, phenotypic anomalies, ultra-rare CRE variant, FMR 1 CRE, neurodevelopmental Fmr 1 expression, enhancer function

Relation: https://figshare.com/articles/figure/Expression_levels_of_i_Fmr1_i_and_FMRP_in_i_Fmr1_i_sup_CRE_sup_/15166955

الاتاحة: https://doi.org/10.1371/journal.pone.0256181.g004