Research graph
References from Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome. Local targets link to admitted publications; unresolved targets remain external evidence.
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
10.1186/2040-2392-4-36 · 2013 · External reference
Two-day radial-arm water maze learning and memory task; robust resolution of amyloid-related memory deficits in transgenic mice
10.1038/nprot.2006.275 · 2006 · External reference
Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants
10.1016/j.ejpn.2020.12.010 · 2021 · External reference
A case of desanto-shinawi syndrome in bahrain with a novel mutation
10.1155/2020/8820966 · 2020 · External reference
Nf1 deletion results in depletion of the Lhx6 transcription factor and a specific loss of parvalbumin+ cortical interneurons
10.1073/pnas.1915458117 · 2020 · External reference
The mammalian gene function resource: the international knockout mouse consortium
10.1007/s00335-012-9422-2 · 2012 · External reference
Cell therapy for treatment of epilepsy
10.1093/med/9780197549469.003.0078 · 2024 · External reference
Targeted knockout of a chemokine-like gene increases anxiety and fear responses
10.1073/pnas.1707663115 · 2018 · External reference
A corticothalamic switch: controlling the thalamus with dynamic synapses
10.1016/j.neuron.2015.03.040 · 2015 · External reference
Infrabarrels are layer 6 circuit modules in the barrel cortex that link long-range inputs and outputs
10.1016/j.celrep.2017.11.049 · 2017 · External reference
RUNX3, EGR1 and SOX9B form a regulatory cascade required to modulate BMP-signaling during cranial cartilage development in zebrafish
10.1371/journal.pone.0050140 · 2012 · External reference
WAC regulates mTOR activity by acting as an adaptor for the TTT and pontin/reptin complexes
10.1016/j.devcel.2015.12.019 · 2016 · External reference
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
10.1136/jmedgenet-2015-103069 · 2015 · External reference
STAR: ultrafast universal RNA-seq aligner
10.1093/bioinformatics/bts635 · 2013 · External reference
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
10.1038/s41588-022-01104-0 · 2022 · External reference
De novo mutations in moderate or severe intellectual disability
10.1371/journal.pgen.1004772 · 2014 · External reference
Extending the phenotype of desanto-shinawi syndrome: a case report and literature review
10.1002/ajmg.a.62571 · 2022 · External reference
Combinatorial effects of alpha- and gamma-protocadherins on neuronal survival and dendritic self-avoidance
10.1523/jneurosci.3035-17.2018 · 2018 · External reference
The contribution of de novo coding mutations to autism spectrum disorder
10.1038/nature13908 · 2014 · External reference
A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity
10.1126/science.1225829 · 2012 · External reference
Acute intranasal osteopontin treatment in male rats following TBI increases the number of activated microglia but does not alter lesion characteristics
10.1002/jnr.24405 · 2020 · External reference
Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism
10.1186/s13229-017-0168-2 · 2017 · External reference
Chd2 Is necessary for neural circuit development and long-term memory
10.1016/j.neuron.2018.09.049 · 2018 · External reference
Stages of embryonic development of the zebrafish
10.1002/aja.1002030302 · 1995 · External reference
The Y-maze for assessment of spatial working and reference memory in mice
10.1007/978-1-4939-8994-2_10 · 2019 · External reference
The elevated plus maze test for measuring anxiety-like behavior in rodents
10.1007/978-1-4939-8994-2_4 · 2019 · External reference
The open field test for measuring locomotor activity and anxiety-like behavior
10.1007/978-1-4939-8994-2_9 · 2019 · External reference
The neurobiological basis of spontaneous alternation
10.1016/s0149-7634(01)00041-0 · 2002 · External reference
Asymptotic conditional singular value decomposition for high-dimensional genomic data
10.1111/j.1541-0420.2010.01455.x · 2011 · External reference
The sva package for removing batch effects and other unwanted variation in high-throughput experiments
10.1093/bioinformatics/bts034 · 2012 · External reference
A novel WAC loss of function mutation in an individual presenting with encephalopathy related to status epilepticus during sleep (ESES)
10.3390/genes11030344 · 2020 · External reference
Analysis of Fgf8 gene function in vertebrate development
10.1101/sqb.1997.062.01.021 · 1997 · External reference
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
10.1093/bioinformatics/btt656 · 2014 · External reference
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
10.1038/ejhg.2015.282 · 2016 · External reference
Tsc1 represses parvalbumin expression and fast-spiking properties in somatostatin lineage cortical interneurons
10.1038/s41467-019-12962-4 · 2019 · External reference
Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC
10.1038/emboj.2012.36 · 2012 · External reference
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: evidence of pathogenicity for a novel splicing variant
10.1002/ajmg.a.62648 · 2022 · External reference
Lee_et.al._2024%2c_complimentary_vertebrate_wac_models_exhibit_phenotypes_relevant_to_desanto-shinawi_syndrome
2026 · External reference
Targeted knockout of duox causes defects in zebrafish growth, thyroid development, and social interaction
10.1016/j.jgg.2019.01.004 · 2019 · External reference
Hippocampal gamma and sharp-wave ripple oscillations are altered in a Cntnap2 mouse model of autism spectrum disorder
10.1016/j.celrep.2021.109970 · 2021 · External reference
Parvalbumin expression in visual cortical interneurons depends on neuronal activity and TrkB ligands during an early period of postnatal development
10.1093/cercor/bhg132 · 2004 · External reference
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
10.1016/j.cell.2011.08.040 · 2011 · External reference
Agouti C57BL/6N embryonic stem cells for mouse genetic resources
10.1038/nmeth.1342 · 2009 · External reference
Ventral hippocampal projections to the medial prefrontal cortex regulate social memory
10.7554/elife.44182 · 2019 · External reference
The DisGeNET knowledge platform for disease genomics: 2019 update
10.1093/nar/gkz1021 · 2020 · External reference
Developmental defects in zebrafish for classification of EGF pathway inhibitors
10.1016/j.taap.2013.11.006 · 2014 · External reference
WAC promotes polo-like kinase 1 activation for timely mitotic entry
10.1016/j.celrep.2018.06.087 · 2018 · External reference
Segmentation of the mouse hippocampal formation in magnetic resonance images
10.1016/j.neuroimage.2011.06.025 · 2011 · External reference
edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
10.1093/bioinformatics/btp616 · 2010 · External reference
Model of autism: increased ratio of excitation/inhibition in key neural systems
10.1034/j.1601-183x.2003.00037.x · 2003 · External reference
PROX1: a lineage tracer for cortical interneurons originating in the lateral/caudal ganglionic eminence and preoptic area
10.1371/journal.pone.0077339 · 2013 · External reference
Structure-function of the human WAC protein in GABAergic neurons: towards an understanding of autosomal dominant DeSanto-Shinawi syndrome
10.3390/biology12040589 · 2023 · External reference
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource
10.1007/s00335-013-9467-x · 2013 · External reference
A conditional knockout resource for the genome-wide study of mouse gene function
10.1038/nature10163 · 2011 · External reference
Excitation-inhibition balance as a framework for investigating mechanisms in neuropsychiatric disorders
10.1038/s41380-019-0426-0 · 2019 · External reference
High-resolution in situ hybridization to whole-mount zebrafish embryos
10.1038/nprot.2007.514 · 2008 · External reference
Three patients with DeSanto-Shinawi syndrome: further phenotypic delineation
10.1002/ajmg.a.38703 · 2018 · External reference
A segmentation protocol and MRI atlas of the C57BL/6J mouse neocortex
10.1016/j.neuroimage.2013.04.008 · 2013 · External reference
DeSanto-Shinawi syndrome: first case in South America
10.1159/000488815 · 2018 · External reference
RNA splicing analysis using heterogeneous and large RNA-seq datasets
10.1038/s41467-023-36585-y · 2023 · External reference
Abnormal neuronal networks and seizure susceptibility in mice overexpressing the APP intracellular domain
10.1016/j.neurobiolaging.2009.09.002 · 2011 · External reference
Lhx6 directly regulates arx and CXCR7 to determine cortical interneuron fate and laminar position
10.1016/j.neuron.2014.02.030 · 2014 · External reference
The parvalbumin/somatostatin ratio is increased in PTEN mutant mice and by human PTEN ASD alleles
10.1016/j.celrep.2015.04.019 · 2015 · External reference
Mouse CNTNAP2 and human CNTNAP2 ASD alleles cell autonomously regulate PV+ cortical interneurons
10.1093/cercor/bhx248 · 2018 · External reference
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes
10.1016/j.cell.2013.06.022 · 2013 · External reference
10.1007/978-3-319-24277-4
10.1007/978-3-319-24277-4 · 2016 · External reference
Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities
10.1038/tp.2015.19 · 2015 · External reference
The origin and specification of cortical interneurons
10.1038/nrn1954 · 2006 · External reference
WAC, a novel WW domain-containing adapter with a coiled-coil region, is colocalized with splicing factor SC35
10.1006/geno.2001.6684 · 2002 · External reference
Jagged1 functions downstream of Twist1 in the specification of the coronal suture and the formation of a boundary between osteogenic and non-osteogenic cells
10.1016/j.ydbio.2010.08.010 · 2010 · External reference
Transplantation of GABAergic interneuron progenitors restores cortical circuit function in an Alzheimer’s disease mouse model
10.1002/advs.202511472 · 2026 · External reference
User-guided 3D active contour segmentation of anatomical structures: significantly improved efficiency and reliability
10.1016/j.neuroimage.2006.01.015 · 2006 · External reference
WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription
10.1016/j.molcel.2011.01.024 · 2011 · External reference
