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Search results 1 to 100 out of 104 for Cdkl5

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Category: Publication
Type Details Score
Publication
First Author: Lo Martire V
Year: 2017
Journal: J Sleep Res
Title: CDKL5 deficiency entails sleep apneas in mice.
Volume: 26
Issue: 4
Pages: 495-497
Publication
First Author: Trazzi S
Year: 2018
Journal: Hum Mol Genet
Title: CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder.
Volume: 27
Issue: 9
Pages: 1572-1592
Publication
First Author: Mazziotti R
Year: 2017
Journal: Hum Mol Genet
Title: Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice.
Volume: 26
Issue: 12
Pages: 2290-2298
Publication  
First Author: Fuchs C
Year: 2018
Journal: Neural Plast
Title: Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder.
Volume: 2018
Pages: 9726950
Publication
First Author: Amendola E
Year: 2014
Journal: PLoS One
Title: Mapping pathological phenotypes in a mouse model of CDKL5 disorder.
Volume: 9
Issue: 5
Pages: e91613
Publication
First Author: Trazzi S
Year: 2016
Journal: Hum Mol Genet
Title: HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder.
Volume: 25
Issue: 18
Pages: 3887-3907
Publication  
First Author: Fuchs C
Year: 2015
Journal: Neurobiol Dis
Title: Inhibition of GSK3β rescues hippocampal development and learning in a mouse model of CDKL5 disorder.
Volume: 82
Pages: 298-310
Publication  
First Author: Pizzo R
Year: 2020
Journal: Neuroscience
Title: Structural Bases of Atypical Whisker Responses in a Mouse Model of CDKL5 Deficiency Disorder.
Volume: 445
Pages: 130-143
Publication  
First Author: Loi M
Year: 2023
Journal: Int J Mol Sci
Title: Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Volume: 24
Issue: 6
Publication
First Author: Sivilia S
Year: 2016
Journal: Genes Brain Behav
Title: CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice.
Volume: 15
Issue: 5
Pages: 491-502
Publication  
First Author: Fuchs C
Year: 2014
Journal: Neurobiol Dis
Title: Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling.
Volume: 70
Pages: 53-68
Publication  
First Author: Tassinari M
Year: 2023
Journal: Neurobiol Dis
Title: Early-onset brain alterations during postnatal development in a mouse model of CDKL5 deficiency disorder.
Volume: 182
Pages: 106146
Publication  
First Author: Mottolese N
Year: 2023
Journal: Biomolecules
Title: Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Volume: 13
Issue: 9
Publication
First Author: Barbiero I
Year: 2022
Journal: Hum Mol Genet
Title: Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency.
Volume: 31
Issue: 16
Pages: 2738-2750
Publication  
First Author: Lee KZ
Year: 2018
Journal: Respir Physiol Neurobiol
Title: Loss of CDKL5 disrupts respiratory function in mice.
Volume: 248
Pages: 48-54
Publication  
First Author: Mulcahey PJ
Year: 2020
Journal: Exp Neurol
Title: Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.
Volume: 332
Pages: 113388
Publication
First Author: Hector RD
Year: 2016
Journal: PLoS One
Title: Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.
Volume: 11
Issue: 6
Pages: e0157758
Publication  
First Author: De Rosa R
Year: 2022
Journal: Int J Mol Sci
Title: Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether.
Volume: 24
Issue: 1
Publication
First Author: Fuchs C
Year: 2022
Journal: CNS Neurosci Ther
Title: Treatment with FRAX486 rescues neurobehavioral and metabolic alterations in a female mouse model of CDKL5 deficiency disorder.
Volume: 28
Issue: 11
Pages: 1718-1732
Publication
First Author: Carli S
Year: 2021
Journal: J Neurochem
Title: In vivo magnetic resonance spectroscopy in the brain of Cdkl5 null mice reveals a metabolic profile indicative of mitochondrial dysfunctions.
Volume: 157
Issue: 4
Pages: 1253-1269
Publication  
First Author: Pizzo R
Year: 2016
Journal: Front Cell Neurosci
Title: Lack of Cdkl5 Disrupts the Organization of Excitatory and Inhibitory Synapses and Parvalbumin Interneurons in the Primary Visual Cortex.
Volume: 10
Pages: 261
Publication
First Author: Sampedro-Castañeda M
Year: 2023
Journal: Nat Commun
Title: Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
Volume: 14
Issue: 1
Pages: 7830
Publication  
First Author: Baltussen LL
Year: 2018
Journal: EMBO J
Title: Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics.
Volume: 37
Issue: 24
Publication
First Author: Lupori L
Year: 2019
Journal: Hum Mol Genet
Title: Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder.
Volume: 28
Issue: 17
Pages: 2851-2861
Publication
First Author: Della Sala G
Year: 2016
Journal: Biol Psychiatry
Title: Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1.
Volume: 80
Issue: 4
Pages: 302-311
Publication  
First Author: Thinwa JW
Year: 2024
Journal: J Clin Invest
Title: CDKL5 regulates p62-mediated selective autophagy and confers protection against neurotropic viruses.
Volume: 134
Issue: 1
Publication  
First Author: Di Nardo A
Year: 2022
Journal: Neurosci Res
Title: Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder.
Volume: 176
Pages: 73-78
Publication  
First Author: Gennaccaro L
Year: 2021
Journal: Neurobiol Dis
Title: A GABAB receptor antagonist rescues functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder.
Volume: 153
Pages: 105304
Publication
First Author: Wang IT
Year: 2012
Journal: Proc Natl Acad Sci U S A
Title: Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.
Volume: 109
Issue: 52
Pages: 21516-21
Publication
First Author: Tang S
Year: 2019
Journal: Nat Commun
Title: Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder.
Volume: 10
Issue: 1
Pages: 2655
Publication  
First Author: Ren E
Year: 2019
Journal: Front Cell Neurosci
Title: Functional and Structural Impairments in the Perirhinal Cortex of a Mouse Model of CDKL5 Deficiency Disorder Are Rescued by a TrkB Agonist.
Volume: 13
Pages: 169
Publication  
First Author: Terzic B
Year: 2021
Journal: Neurobiol Dis
Title: X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder.
Volume: 148
Pages: 105176
Publication
First Author: Zhu ZA
Year: 2023
Journal: Cell Rep
Title: CDKL5 deficiency in adult glutamatergic neurons alters synaptic activity and causes spontaneous seizures via TrkB signaling.
Volume: 42
Issue: 10
Pages: 113202
Publication      
First Author: Yennawar M
Year: 2019
Journal: J Neurosci
Title: AMPA receptor dysregulation and therapeutic interventions in a mouse model of CDKL5 Deficiency Disorder.
Publication  
First Author: Okuda K
Year: 2017
Journal: Neurobiol Dis
Title: CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility.
Volume: 106
Pages: 158-170
Publication
First Author: Schroeder E
Year: 2019
Journal: Mol Neurobiol
Title: Neuron-Type Specific Loss of CDKL5 Leads to Alterations in mTOR Signaling and Synaptic Markers.
Volume: 56
Issue: 6
Pages: 4151-4162
Publication
First Author: Jhang CL
Year: 2020
Journal: Hum Mol Genet
Title: Dopaminergic loss of cyclin-dependent kinase-like 5 recapitulates methylphenidate-remediable hyperlocomotion in mouse model of CDKL5 deficiency disorder.
Volume: 29
Issue: 14
Pages: 2408-2419
Publication
First Author: Ricciardi S
Year: 2009
Journal: Hum Mol Genet
Title: CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.
Volume: 18
Issue: 23
Pages: 4590-602
Publication
First Author: Tang S
Year: 2017
Journal: J Neurosci
Title: Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice.
Volume: 37
Issue: 31
Pages: 7420-7437
Publication
First Author: Hao S
Year: 2021
Journal: J Neurosci
Title: CDKL5 Deficiency Augments Inhibitory Input into the Dentate Gyrus That Can Be Reversed by Deep Brain Stimulation.
Volume: 41
Issue: 43
Pages: 9031-9046
Publication
First Author: Rusconi L
Year: 2008
Journal: J Biol Chem
Title: CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.
Volume: 283
Issue: 44
Pages: 30101-11
Publication
First Author: Ricciardi S
Year: 2012
Journal: Nat Cell Biol
Title: CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
Volume: 14
Issue: 9
Pages: 911-23
Publication
First Author: Okuda K
Year: 2018
Journal: PLoS One
Title: Comprehensive behavioral analysis of the Cdkl5 knockout mice revealed significant enhancement in anxiety- and fear-related behaviors and impairment in both acquisition and long-term retention of spatial reference memory.
Volume: 13
Issue: 4
Pages: e0196587
Publication
First Author: Mari F
Year: 2005
Journal: Hum Mol Genet
Title: CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
Volume: 14
Issue: 14
Pages: 1935-46
Publication  
First Author: Trovò L
Year: 2020
Journal: Neurobiol Dis
Title: The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo.
Volume: 138
Pages: 104791
Publication  
First Author: La Montanara P
Year: 2020
Journal: Sci Transl Med
Title: Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models.
Volume: 12
Issue: 551
Publication
First Author: Liao W
Year: 2023
Journal: Hum Mol Genet
Title: CDKL5-mediated developmental tuning of neuronal excitability and concomitant regulation of transcriptome.
Volume: 32
Issue: 23
Pages: 3276-3298
Publication
First Author: Jhang CL
Year: 2017
Journal: Hum Mol Genet
Title: Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors.
Volume: 26
Issue: 20
Pages: 3922-3934
Publication
First Author: Lin C
Year: 2005
Journal: Hum Mol Genet
Title: CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
Volume: 14
Issue: 24
Pages: 3775-86
Publication
First Author: Zlatic SA
Year: 2022
Journal: iScience
Title: Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome.
Volume: 25
Issue: 9
Pages: 104966
Publication
First Author: Kim JY
Year: 2020
Journal: Nat Commun
Title: A kinome-wide screen identifies a CDKL5-SOX9 regulatory axis in epithelial cell death and kidney injury.
Volume: 11
Issue: 1
Pages: 1924
Publication
First Author: Kameshita I
Year: 2008
Journal: Biochem Biophys Res Commun
Title: Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1.
Volume: 377
Issue: 4
Pages: 1162-7
Publication
First Author: Sekiguchi M
Year: 2013
Journal: Arch Biochem Biophys
Title: Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder.
Volume: 535
Issue: 2
Pages: 257-67
Publication
First Author: Valli E
Year: 2012
Journal: Biochim Biophys Acta
Title: CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.
Volume: 1819
Issue: 11-12
Pages: 1173-85
Publication  
First Author: Meziane H
Year: 2022
Journal: Biomedicines
Title: Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.
Volume: 10
Issue: 12
Publication
First Author: Montini E
Year: 1998
Journal: Genomics
Title: Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.
Volume: 51
Issue: 3
Pages: 427-33
Publication      
First Author: Phenomin
Year: 2019
Journal: MGI Direct Data Submission
Title: Information Obtained from Phenomin
Publication
First Author: Sasaki N
Year: 2010
Journal: Mol Cell Neurosci
Title: Sonic hedgehog signaling regulates actin cytoskeleton via Tiam1-Rac1 cascade during spine formation.
Volume: 45
Issue: 4
Pages: 335-44
Publication
First Author: Mattiske T
Year: 2016
Journal: Hum Mol Genet
Title: Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.
Volume: 25
Issue: 24
Pages: 5433-5443
Publication        
First Author: Mouse Genome Sequence and Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Mouse Genome Sequence Project Annotation
Publication      
First Author: Mutant Mouse Regional Resource Centers
Year: 2004
Journal: Unpublished
Title: Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC)
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: MGC Data curation in Mouse Genome Informatics
Publication        
First Author: GO Central curators, GOA curators, Rhea curators
Year: 2020
Title: Automatic Gene Ontology annotation based on Rhea mapping
Publication        
First Author: GOA curators, MGI curators
Year: 2001
Title: Gene Ontology annotation based on Enzyme Commission mapping
Publication        
First Author: The Gene Ontology Consortium
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Publication      
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
Publication      
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication        
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication
First Author: Weaving LS
Year: 2004
Journal: Am J Hum Genet
Title: Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Volume: 75
Issue: 6
Pages: 1079-93
Publication        
First Author: Silvestre M
Year: 2024
Title: Cell-type specific expression, regulation and compensation of CDKL5 activity in mouse brain.
Publication
First Author: Carrette LLG
Year: 2018
Journal: Proc Natl Acad Sci U S A
Title: A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders.
Volume: 115
Issue: 4
Pages: E668-E675
Publication  
First Author: Boggio EM
Year: 2016
Journal: Neuroscience
Title: Visual impairment in FOXG1-mutated individuals and mice.
Volume: 324
Pages: 496-508
Publication
First Author: Patriarchi T
Year: 2016
Journal: Eur J Hum Genet
Title: Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice.
Volume: 24
Issue: 6
Pages: 871-80
Publication
First Author: Williamson SL
Year: 2015
Journal: Eur J Hum Genet
Title: Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.
Volume: 23
Issue: 9
Pages: 1171-5