Search Results - "Fragile X Syndrome: genetics"
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1
Authors: et al.
Contributors: et al.
Source: Mol Psychiatry
Molecular psychiatry, vol. 30, no. 5, pp. 1937-1951Subject Terms: Male, 0301 basic medicine, Autism Spectrum Disorder, Receptor, Metabotropic Glutamate 5, Receptors, Metabotropic Glutamate, Hippocampus, Article, Fragile X Mental Retardation Protein, Mice, 03 medical and health sciences, Pregnancy, Animals, 0303 health sciences, Neuronal Plasticity, TOR Serine-Threonine Kinases, Settore BIO/13, Mice, Inbred C57BL, Disease Models, Animal, Poly I-C, Autism Spectrum Disorder/metabolism, Autism Spectrum Disorder/genetics, Autism Spectrum Disorder/physiopathology, TOR Serine-Threonine Kinases/metabolism, TOR Serine-Threonine Kinases/genetics, Fragile X Mental Retardation Protein/metabolism, Fragile X Mental Retardation Protein/genetics, Female, Neuronal Plasticity/physiology, Neuronal Plasticity/genetics, Prenatal Exposure Delayed Effects/metabolism, Signal Transduction/physiology, Receptor, Metabotropic Glutamate 5/metabolism, Hippocampus/metabolism, Fragile X Syndrome/metabolism, Fragile X Syndrome/genetics, Poly I-C/pharmacology, Receptors, Metabotropic Glutamate/metabolism, Prenatal Exposure Delayed Effects, Fragile X Syndrome, Settore BIOS-10/A - Biologia cellulare e applicata, Signal Transduction
File Description: application/pdf
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2
Authors: et al.
Source: de Boer, E N, Scheper, A J, Hendriksen, D, Charbon, B, van der Vries, G, ten Berge, A M, Grootscholten, P M, Lemmink, H H, Jongbloed, J D H, Bosscher, L, Knoers, N V A M, Swertz, M A, Sikkema-Raddatz, B, Dijkstra, D J, Johansson, L F & van Diemen, C C 2025, 'Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders', International Journal of Molecular Sciences, vol. 26, no. 7, 2850. https://doi.org/10.3390/ijms26072850
Subject Terms: Humans, Nanopore Sequencing/methods, Microsatellite Repeats/genetics, Nervous System Diseases/genetics, Fragile X Syndrome/genetics, Fragile X Mental Retardation Protein/genetics, DNA Repeat Expansion, Spinocerebellar Ataxias/genetics, Male, DNA Methylation, High-Throughput Nucleotide Sequencing, Female
File Description: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/40243408; info:eu-repo/semantics/altIdentifier/hdl/https://hdl.handle.net/11370/01d79c92-0457-405f-8465-b99e42411752; info:eu-repo/semantics/altIdentifier/pissn/1422-0067
Availability: https://hdl.handle.net/11370/01d79c92-0457-405f-8465-b99e42411752
https://research.rug.nl/en/publications/01d79c92-0457-405f-8465-b99e42411752
https://doi.org/10.3390/ijms26072850
https://pure.rug.nl/ws/files/1297089030/ijms-26-02850.pdf
https://www.scopus.com/pages/publications/105002291768 -
3
Authors: et al.
Contributors: et al.
Source: eLife
eLife, Vol 12 (2024)Subject Terms: 0301 basic medicine, fragile X messenger ribonucleoprotein, Mouse, Immunology and Microbiology (all), QH301-705.5, Science, Neurons/metabolism, Sciences de la santé humaine, MAP1B, neuroscience, Mice, Fragile X Mental Retardation Protein, 03 medical and health sciences, Cell Movement, Neurologie, Fmr1 protein, mouse, Animals, fragile X syndrome, Human health sciences, Biology (General), mouse, Mice, Knockout, Neurons, neuronal migration, 0303 health sciences, Neuroscience (all), Biochemistry, Genetics and Molecular Biology (all), Fragile X Syndrome/metabolism, cytoskeleton, Microtubule-Associated Proteins/genetics, Fragile X Mental Retardation Protein/metabolism, microtubule-associated protein 1B, [SDV] Life Sciences [q-bio], Fragile X Syndrome/genetics, Neurology, Fragile X Syndrome, Gene Knockdown Techniques, Microtubule-Associated Proteins/metabolism, Medicine, FMRP, Neurons/physiology, Microtubule-Associated Proteins, Fragile X Mental Retardation Protein/genetics, Neuroscience
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4
Authors: et al.
Subject Terms: Animals, Chlorzoxazone* / pharmacology, Disease Models Animal, Fragile X Mental Retardation Protein* / genetics, Fragile X Syndrome* / drug therapy, Fragile X Syndrome* / genetics, Fragile X Syndrome* / metabolism, Hippocampus / drug effects, Hippocampus / metabolism, Large-Conductance Calcium-Activated Potassium Channel alpha Subunits* / genetics, Large-Conductance Calcium-Activated Potassium Channel alpha Subunits* / metabolism, Male, Mice, Mice Inbred C57BL, Mice Knockout, Sciences du Vivant [q-bio]/Neurosciences [q-bio.NC]
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5
Authors: et al.
Source: Neurobiology of disease, vol. 203, pp. 106726
Subject Terms: Fragile X Syndrome/metabolism, Fragile X Syndrome/genetics, Fragile X Syndrome/pathology, Glycogen Synthase Kinase 3 beta/metabolism, Animals, Mitochondria/metabolism, Humans, Mice, Knockout, Fragile X Mental Retardation Protein/genetics, Fragile X Mental Retardation Protein/metabolism, Fibroblasts/metabolism, Male, Inbred C57BL, Autism, Coactivator (PGC) 1-alpha, GSK3β-inhibitor, Intellectual disabilities, Peroxisome Proliferator-Activated Receptor Gamma
File Description: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/39510449; info:eu-repo/semantics/altIdentifier/eissn/1095-953X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_BF06FD9983830; https://serval.unil.ch/notice/serval:BIB_BF06FD998383; https://serval.unil.ch/resource/serval:BIB_BF06FD998383.P001/REF.pdf
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6
Authors: et al.
Source: PloS one, vol. 18, no. 6, pp. e0287062
Subject Terms: Animals, Humans, Female, Fragile X Mental Retardation Protein/genetics, Fragile X Mental Retardation Protein/metabolism, Case-Control Studies, Retrospective Studies, Proteins/metabolism, Breast Neoplasms/genetics, Mammary Neoplasms, Animal, Fragile X Syndrome/genetics
File Description: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/37379311; info:eu-repo/semantics/altIdentifier/eissn/1932-6203; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_36A7E5C967AC8; https://serval.unil.ch/notice/serval:BIB_36A7E5C967AC; https://serval.unil.ch/resource/serval:BIB_36A7E5C967AC.P001/REF.pdf
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7
Authors: et al.
Source: Cells, vol. 12, no. 5, pp. 758
Subject Terms: Humans, Amyloid beta-Protein Precursor/metabolism, Fragile X Syndrome/genetics, Neural Stem Cells/metabolism, Neurons/metabolism, ADAM10, APP processing, Fragile X syndrome, SAP97, iPSCs, peptide therapy, protein synthesis
File Description: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/36899894; info:eu-repo/semantics/altIdentifier/eissn/2073-4409; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F566293C7D2E8; https://serval.unil.ch/notice/serval:BIB_F566293C7D2E; https://serval.unil.ch/resource/serval:BIB_F566293C7D2E.P001/REF.pdf
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8
Authors: et al.
Subject Terms: Adult Blotting, Southern Child Female Fragile X Syndrome/*genetics Gene Amplification Heterozygote Humans Male Mutation *Polymerase Chain Reaction
Relation: Revue Médicale de la Suisse Romande; https://iris.unil.ch/handle/iris/104931; serval:BIB_5AA6DC1C5558; 8502886
Availability: https://iris.unil.ch/handle/iris/104931
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9
Authors: et al.
Contributors: et al.
Source: RNA Biol
RNA biology, vol. 14, no. 11, pp. 1580-1591Subject Terms: Male, 0301 basic medicine, RNA editing, Adenosine Deaminase, Knockout, [SDV]Life Sciences [q-bio], Messenger, Adenosine Deaminase/genetics, Adenosine Deaminase/metabolism, Animals, Cell Nucleus/metabolism, Cell Nucleus/ultrastructure, Cerebral Cortex/metabolism, Cerebral Cortex/pathology, Disease Models, Animal, Fragile X Mental Retardation Protein/genetics, Fragile X Mental Retardation Protein/metabolism, Fragile X Syndrome/genetics, Fragile X Syndrome/metabolism, Fragile X Syndrome/pathology, Gene Deletion, Hippocampus/metabolism, Hippocampus/pathology, Humans, Mice, Mice, Knockout, Neurons/metabolism, Neurons/pathology, Phenotype, Primary Cell Culture, Protein Binding, RNA Editing, RNA, Messenger/genetics, RNA, Messenger/metabolism, RNA-Binding Proteins/genetics, RNA-Binding Proteins/metabolism, ADAR2, FMRP, Fragile X syndrome, Molecular Biology, Cell Biology, RNA-Binding Protein, Hippocampus, Fragile X Mental Retardation Protein, 03 medical and health sciences, Hippocampu, Settore BIO/13 - BIOLOGIA APPLICATA, RNA, Messenger, Cell Nucleu, RNA editing, FMRP, Cell Nucleus, Cerebral Cortex, Neurons, 0303 health sciences, Animal, RNA-Binding Proteins, Neuron, [SDV] Life Sciences [q-bio], Fragile X Syndrome, Disease Models, RNA, Human, Research Paper
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Access URL: https://www.tandfonline.com/doi/pdf/10.1080/15476286.2017.1338232?needAccess=true
https://pubmed.ncbi.nlm.nih.gov/28640668
https://pubmed.ncbi.nlm.nih.gov/28640668/
https://serval.unil.ch/resource/serval:BIB_3F5DA390795D.P001/REF.pdf
https://core.ac.uk/display/149488223
http://europepmc.org/articles/PMC5785225
https://www.tandfonline.com/doi/full/10.1080/15476286.2017.1338232
https://www.tandfonline.com/doi/pdf/10.1080/15476286.2017.1338232
http://www.tandfonline.com/toc/krnb20/current
https://doi.org/10.1080/15476286.2017.1338232
https://hdl.handle.net/11564/675464
https://hdl.handle.net/10281/383992
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_3F5DA390795D7
https://serval.unil.ch/notice/serval:BIB_3F5DA390795D
https://serval.unil.ch/resource/serval:BIB_3F5DA390795D.P001/REF.pdf
https://hdl.handle.net/11379/513375 -
10
Authors: et al.
Source: Journal of neurochemistry 157(3), 666 - 683 (2021). doi:10.1111/jnc.15230
Subject Terms: info:eu-repo/classification/ddc/610, ADP-Ribosylation Factor 6, ADP-Ribosylation Factors: metabolism, Actin Cytoskeleton: metabolism, Animals, Dendritic Spines: ultrastructure, Fragile X Mental Retardation Protein: genetics, Fragile X Mental Retardation Protein: metabolism, Fragile X Syndrome: genetics, Fragile X Syndrome: metabolism, Guanine Nucleotide Exchange Factors: genetics, Guanine Nucleotide Exchange Factors: metabolism, Guanosine Triphosphate: metabolism, Mice, Inbred C57BL, Knockout, Nerve Tissue Proteins: genetics, Neuronal Plasticity: genetics, Neurons: metabolism, RNA Interference, Receptors, Metabotropic Glutamate: metabolism, Synaptosomes: metabolism
Subject Geographic: DE
Relation: info:eu-repo/semantics/altIdentifier/pmid/33125726; info:eu-repo/semantics/altIdentifier/issn/0022-3042; info:eu-repo/semantics/altIdentifier/pmid/pmid:33125726; info:eu-repo/semantics/altIdentifier/issn/1471-4159; https://pub.dzne.de/record/155270
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11
Authors: et al.
Contributors: et al.
Subject Terms: Fragile X syndrome, Friedreich ataxia, Genome-wide analysis, Huntington disease, Myotonic dystrophy type 1, Repeat expansions, Short tandem repeats, Whole-genome sequencing data, Fragile X Syndrome/genetics, Humans, Myotonic Dystrophy/genetics, Case-Control Studies, Whole Genome Sequencing, DNA Repeat Expansion, Huntington Disease/genetics, High-Throughput Nucleotide Sequencing, Software, Friedreich Ataxia/genetics, Microsatellite Repeats, Genetics, Ecology, Evolution, Behavior and Systematics, Cell Biology, Research Support, Non-U.S. Gov't, Journal Article
File Description: application/pdf
Availability: https://dspace.library.uu.nl/handle/1874/439831
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12
Authors: et al.
Source: The EMBO journal, vol. 39, no. 20, pp. e104467
Subject Terms: Acrylates/pharmacology, Animals, Cell Line, Cell Nucleus/metabolism, Cytoplasm/drug effects, Cytoplasm/metabolism, Down-Regulation, Fragile X Mental Retardation Protein/genetics, Fragile X Mental Retardation Protein/metabolism, Fragile X Syndrome/genetics, Fragile X Syndrome/metabolism, G1 Phase Cell Cycle Checkpoints/genetics, Humans, In Situ Hybridization, Fluorescence, Interphase/genetics, Mice, Microscopy, Electron, Transmission, Microtubules/drug effects, Microtubules/metabolism, Microtubules/ultrastructure, Myoblasts/drug effects, Myoblasts/metabolism, Nuclear Envelope/drug effects, Nuclear Envelope/metabolism, Nuclear Envelope/ultrastructure, Nuclear Pore Complex Proteins/genetics, Nuclear Pore Complex Proteins/metabolism
File Description: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/32706158; info:eu-repo/semantics/altIdentifier/eissn/1460-2075; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F93EA3DA3D5C5; https://serval.unil.ch/notice/serval:BIB_F93EA3DA3D5C; https://serval.unil.ch/resource/serval:BIB_F93EA3DA3D5C.P001/REF.pdf
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13
Authors: et al.
Contributors: et al.
Source: Journal of Human Genetics. 62:269-275
Subject Terms: Male, 0301 basic medicine, 0303 health sciences, Trinucleotide Repeats/genetics, Haplotypes/genetics, Microsatellite Repeats/genetics, Middle Aged, Polymorphism, Single Nucleotide/genetics, Polymorphism, Single Nucleotide, 3. Good health, Fragile X Mental Retardation Protein, 03 medical and health sciences, Fragile X Syndrome/genetics, Gene Frequency, Haplotypes, Trinucleotide Repeats, Child, Preschool, Fragile X Syndrome, Humans, Child, Fragile X Mental Retardation Protein/genetics, Microsatellite Repeats
File Description: application/pdf
Access URL: https://repositorio-aberto.up.pt/bitstream/10216/114492/1/SMartins_FMR1.pdf
https://pubmed.ncbi.nlm.nih.gov/27784894
https://nature.com/articles/jhg2016122
https://www.ncbi.nlm.nih.gov/pubmed/27784894
https://www.nature.com/articles/jhg2016122.pdf
https://pubmed.ncbi.nlm.nih.gov/27784894/
https://pure.mpg.de/pubman/faces/ViewItemOverviewPage.jsp?itemId=item_2416919
https://europepmc.org/abstract/MED/27784894
http://hdl.handle.net/10216/114492 -
14
Authors: et al.
Contributors: et al.
Source: Cell Reports, Vol 13, Iss 2, Pp 234-241 (2015)
Subject Terms: 0301 basic medicine, QH301-705.5, Cells, Induced Pluripotent Stem Cells, Induced Pluripotent Stem Cells/metabolism, Promoter Regions, Neurons/cytology, Fragile X Mental Retardation Protein, 03 medical and health sciences, Induced Pluripotent Stem Cells/cytology, Genetic, Trinucleotide Repeats, Humans, Gene Silencing, Biology (General), Promoter Regions, Genetic, Cells, Cultured, Neurons/metabolism, Neurons, DNA Methylation, 0303 health sciences, Cultured, Fragile X Syndrome/genetics, Fragile X Mental Retardation Protein/metabolism, Fragile X Mental Retardation Protein/genetics, Fragile X Syndrome, CpG Islands, CRISPR-Cas Systems
File Description: 234~241
Access URL: http://www.cell.com/article/S2211124715010098/pdf
https://pubmed.ncbi.nlm.nih.gov/26440889
https://doaj.org/article/39333aed95a7441eb157a164decfd490
http://www.cell.com/cell-reports/pdf/S2211-1247(15)01009-8.pdf
https://www.ncbi.nlm.nih.gov/pubmed/26440889
https://pubmed.ncbi.nlm.nih.gov/26440889/
https://www.infona.pl/resource/bwmeta1.element.elsevier-c8ef21c7-c530-3062-ac2e-a7185f28ee42
https://www.cell.com/cell-reports/abstract/S2211-1247(15)01009-8
https://www.cell.com/cell-reports/pdf/S2211-1247(15)01009-8.pdf -
15
Authors: et al.
Contributors: et al.
Source: Genome Biol
Genome Biology, Vol 21, Iss 1, Pp 1-14 (2020)
Genome BiologySubject Terms: QH301-705.5, Method, QH426-470, Genome-wide analysis, Journal Article, Repeat expansions, Genetics, Humans, Myotonic Dystrophy, Biology (General), Huntington Disease/genetics, Ecology, Evolution, Behavior and Systematics, DNA Repeat Expansion, Whole Genome Sequencing, Myotonic dystrophy type 1, Research Support, Non-U.S. Gov't, High-Throughput Nucleotide Sequencing, Cell Biology, Huntington disease, Friedreich Ataxia/genetics, 3. Good health, Myotonic Dystrophy/genetics, Fragile X Syndrome/genetics, Huntington Disease, Short tandem repeats, Friedreich ataxia, Friedreich Ataxia, Case-Control Studies, Fragile X Syndrome, Whole-genome sequencing data, Software, Fragile X syndrome, Microsatellite Repeats
File Description: application/pdf
Access URL: https://genomebiology.biomedcentral.com/track/pdf/10.1186/s13059-020-02017-z
https://pubmed.ncbi.nlm.nih.gov/32345345
https://doaj.org/article/e6a0e5f3dd2f430489a30306e1ab55af
https://www.biorxiv.org/content/biorxiv/early/2019/12/03/863035.full.pdf
https://www.biorxiv.org/content/10.1101/863035v1.article-metrics
https://www.biorxiv.org/content/10.1101/863035v1
https://minerva-access.unimelb.edu.au/bitstream/handle/11343/246361/PMC7187524.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187524
https://minerva-access.unimelb.edu.au/handle/11343/246361
https://open.library.ubc.ca/cIRcle/collections/52383/items/1.0390018
https://link.springer.com/article/10.1186/s13059-020-02017-z;
https://ahro.austin.org.au/austinjspui/handle/1/23103
https://dspace.library.uu.nl/handle/1874/439831 -
16
Authors: et al.
Source: Human molecular genetics, vol. 27, no. 12, pp. 2039-2051
Subject Terms: Adolescent, Adult, Aged, Animals, Autism Spectrum Disorder/genetics, Autism Spectrum Disorder/physiopathology, Child, Disease Models, Animal, Female, Fibroblasts/metabolism, Fibroblasts/pathology, Fragile X Mental Retardation Protein/biosynthesis, Fragile X Mental Retardation Protein/genetics, Fragile X Syndrome/genetics, Fragile X Syndrome/physiopathology, Hippocampus/metabolism, Hippocampus/physiopathology, Humans, Male, Mice, Knockout, Middle Aged, Neurons/metabolism, Neurons/pathology, Young Adult
File Description: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/29590342; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_B39C9DDE6F716; https://serval.unil.ch/notice/serval:BIB_B39C9DDE6F71; https://serval.unil.ch/resource/serval:BIB_B39C9DDE6F71.P002/REF.pdf
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17
Authors: et al.
Source: European Journal of Medical Genetics, 66 (9), 104819 (2023-09)
Subject Terms: DR Congo, Face2Gene, Fragile X syndrome, Screening, Male, Adult, Female, Humans, Adolescent, Pilot Projects, Image Processing, Computer-Assisted, Fragile X Syndrome/diagnosis, Fragile X Syndrome/genetics, Intellectual Disability/diagnosis, Down Syndrome, Intellectual Disability, Genetics, Genetics (clinical), General Medicine, Human health sciences, Laboratory medicine & medical technology, Sciences de la santé humaine, Médecine de laboratoire & technologie médicale
Relation: https://api.elsevier.com/content/article/PII:S1769721223001258?httpAccept=text/xml; urn:issn:1769-7212; urn:issn:1878-0849
Access URL: https://orbi.uliege.be/handle/2268/307835
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18
Authors: et al.
Source: European Journal of Medical Genetics. 66:104819
Subject Terms: Male, Adult, 0301 basic medicine, Fragile X Syndrome/diagnosis, Adolescent, Pilot Projects, Sciences de la santé humaine, 03 medical and health sciences, Laboratory medicine & medical technology, Intellectual Disability, Genetics, Image Processing, Computer-Assisted, Humans, Human health sciences, Genetics (clinical), Face2Gene, 0303 health sciences, Intellectual Disability/diagnosis, General Medicine, Médecine de laboratoire & technologie médicale, Fragile X Syndrome/genetics, Fragile X Syndrome, Screening, Female, Down Syndrome, DR Congo, Fragile X syndrome
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19
Authors: et al.
Source: Genetic Epidemiology. 15:103-109
Subject Terms: 0301 basic medicine, Adult, Male, Adolescent, Genotype, Greece/epidemiology, Pilot Projects, 03 medical and health sciences, Intellectual Disability/epidemiology/*genetics, Trinucleotide Repeats, Intellectual Disability, Prevalence, Cyprus/epidemiology, Humans, Prospective Studies, Child, 0303 health sciences, Greece, Fragile X Syndrome/*genetics, Chromosome Mapping, 3. Good health, Child, Preschool, Fragile X Syndrome, Cyprus, Mutation, Female
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20
Authors:
Source: Ugeskrift for Laeger. 168(43):3727
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