Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

[1]  R. Reddy,et al.  Association of genes with phenotype in autism spectrum disorder , 2019, Aging.

[2]  T. Abel,et al.  Home-cage hypoactivity in mouse genetic models of autism spectrum disorder , 2019, Neurobiology of Learning and Memory.

[3]  Kuniaki Saito,et al.  Altered kynurenine pathway metabolites in a mouse model of human attention-deficit hyperactivity/autism spectrum disorders: A potential new biological diagnostic marker , 2019, Scientific Reports.

[4]  Chengji J. Zhou,et al.  Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk , 2019, Journal of Neurodevelopmental Disorders.

[5]  Christopher W. N. Saville,et al.  Cognitive endophenotypes of attention deficit/hyperactivity disorder and intra-subject variability in patients with autism spectrum disorder , 2016, Biological Psychology.

[6]  Lucia Margari,et al.  A review of executive function deficits in autism spectrum disorder and attention-deficit/hyperactivity disorder , 2016, Neuropsychiatric disease and treatment.

[7]  Kechun Zhou,et al.  Sonic hedgehog is a regulator of extracellular glutamate levels and epilepsy , 2016, EMBO reports.

[8]  Yingxi Lin,et al.  Npas4: Linking Neuronal Activity to Memory , 2016, Trends in Neurosciences.

[9]  P. J. Sjöström,et al.  Neurons diversify astrocytes in the adult brain through sonic hedgehog signaling , 2016, Science.

[10]  C. Webber,et al.  Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. , 2016, American journal of human genetics.

[11]  Heike Tost,et al.  Working memory genetics in schizophrenia and related disorders: An RDoC perspective , 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[12]  J. Lippincott-Schwartz,et al.  Dendrosomatic Sonic Hedgehog Signaling in Hippocampal Neurons Regulates Axon Elongation , 2015, The Journal of Neuroscience.

[13]  Mriganka Sur,et al.  Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders , 2015, Science.

[14]  L. Vissers,et al.  Genetic studies in intellectual disability and related disorders , 2015, Nature Reviews Genetics.

[15]  Michael M. Halassa,et al.  Thalamic reticular impairment underlies attention deficit in Ptchd1Y/− mice , 2015, Nature.

[16]  C. Cytrynbaum,et al.  Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder , 2015, Clinical genetics.

[17]  T. Bourgeron.  From the genetic architecture to synaptic plasticity in autism spectrum disorder , 2015, Nature Reviews Neuroscience.

[18]  R. Huganir,et al.  Glutamate synapses in human cognitive disorders. , 2015, Annual review of neuroscience.

[19]  Daniel H. Geschwind,et al.  Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders , 2015, Nature Reviews Genetics.

[20]  Ed S. Lein,et al.  Spatiotemporal dynamics of the postnatal developing primate brain transcriptome , 2015, Human molecular genetics.

[21]  Steve D. M. Brown,et al.  Applying the ARRIVE Guidelines to an In Vivo Database , 2015, PLoS biology.

[22]  A. Battaglia,et al.  Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability , 2015, European Journal of Human Genetics.

[23]  S. Linnarsson,et al.  Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq , 2015, Science.

[24]  A. V. Vulto-van Silfhout,et al.  Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. , 2015, American journal of human genetics.

[25]  K. Friend,et al.  X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes , 2015, Molecular Psychiatry.

[26]  D. Geschwind,et al.  The emerging picture of autism spectrum disorder: genetics and pathology. , 2015, Annual review of pathology.

[27]  M. Kolář,et al.  DISP3 promotes proliferation and delays differentiation of neural progenitor cells , 2014, FEBS letters.

[28]  F. Bunz,et al.  A PTCH1 Homolog Transcriptionally Activated by p53 Suppresses Hedgehog Signaling* , 2014, The Journal of Biological Chemistry.

[29]  Alan R. Mardinly,et al.  Npas4 Regulates Excitatory-Inhibitory Balance within Neural Circuits through Cell-Type-Specific Gene Programs , 2014, Cell.

[30]  Allan R. Jones,et al.  Transcriptional Landscape of the Prenatal Human Brain , 2014, Nature.

[31]  A. McMahon,et al.  Essential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning , 2013, Development.

[32]  A. Koleske.  Molecular mechanisms of dendrite stability , 2013, Nature Reviews Neuroscience.

[33]  Mark P. Mattson,et al.  Sonic hedgehog regulates presynaptic terminal size, ultrastructure and function in hippocampal neurons , 2012, Journal of Cell Science.

[34]  Richard D Emes,et al.  Evolution of synapse complexity and diversity. , 2012, Annual review of neuroscience.

[35]  Y. Hérault,et al.  Highly‐efficient, fluorescent, locus directed cre and FlpO deleter mice on a pure C57BL/6N genetic background , 2012, Genesis.

[36]  Allan R. Jones,et al.  Large-Scale Cellular-Resolution Gene Profiling in Human Neocortex Reveals Species-Specific Molecular Signatures , 2012, Cell.

[37]  M. Mattson,et al.  Subcellular localization of patched and smoothened, the receptors for sonic hedgehog signaling, in the hippocampal neuron , 2011, The Journal of comparative neurology.

[38]  Hans van Bokhoven,et al.  Genetic and epigenetic networks in intellectual disabilities. , 2011, Annual review of genetics.

[39]  M. Mattson,et al.  Sonic hedgehog distribution within mature hippocampal neurons , 2011, Communicative & integrative biology.

[40]  P. Demougin,et al.  Deletion in Xp22.11: PTCHD1 is a candidate gene for X‐linked intellectual disability with or without autism , 2011, Clinical genetics.

[41]  Chi-Chung Hui,et al.  Disruption at the Ptchd1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Nih Public Access , 2010 .

[42]  G. Kreiman,et al.  Widespread transcription at neuronal activity-regulated enhancers , 2010, Nature.

[43]  S. Hymowitz,et al.  The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling , 2009, Nature Structural &Molecular Biology.

[44]  F. Charron,et al.  Sonic Hedgehog Guides Axons through a Noncanonical, Src-Family-Kinase-Dependent Signaling Pathway , 2009, Neuron.

[45]  Xiaohui Xie,et al.  MotifMap: a human genome-wide map of candidate regulatory motif sites , 2009, Bioinform..

[46]  Athar N. Malik,et al.  Activity-dependent regulation of inhibitory synapse development by Npas4 , 2008, Nature.

[47]  Li Zhang,et al.  Male germ cell-specific expression of a novel Patched-domain containing gene Ptchd3. , 2007, Biochemical and biophysical research communications.

[48]  T. Dresbach,et al.  Synaptic targeting of neuroligin is independent of neurexin and SAP90/PSD95 binding , 2004, Molecular and Cellular Neuroscience.

[49]  N. Ziv,et al.  Postsynaptic Density Assembly Is Fundamentally Different from Presynaptic Active Zone Assembly , 2004, The Journal of Neuroscience.

[50]  R. Petralia,et al.  NMDA receptor trafficking through an interaction between PDZ proteins and the exocyst complex , 2003, Nature Cell Biology.

[51]  A. Graybiel,et al.  A measure of striatal function predicts motor stereotypy , 2000, Nature Neuroscience.