Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
about
A comparison of neuroimaging findings in childhood onset schizophrenia and autism spectrum disorder: a review of the literatureExcitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum DisordersAdvancing epilepsy genetics in the genomic eraAdvancing the understanding of autism disease mechanisms through geneticsReleasing the Cortical Brake by Non-Invasive Electromagnetic Stimulation? rTMS Induces LTD of GABAergic NeurotransmissionHuman gephyrin is encompassed within giant functional noncoding yin-yang sequencesHigh content image analysis identifies novel regulators of synaptogenesis in a high-throughput RNAi screen of primary neuronsSimultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathySynaptic proteins and receptors defects in autism spectrum disordersPostmortem brain: an underutilized substrate for studying severe mental illnessEndosomal Phosphatidylinositol 3-Phosphate Promotes Gephyrin Clustering and GABAergic Neurotransmission at Inhibitory Postsynapses.Copy number variant analysis from exome data in 349 patients with epileptic encephalopathyNeurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes.MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.Identification of candidate intergenic risk loci in autism spectrum disorder.Excess of rare variants in genes that are key epigenetic regulators of spermatogenesis in the patients with non-obstructive azoospermia.MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del.Genetic Relationship between Schizophrenia and Nicotine Dependence.α5GABAA receptor deficiency causes autism-like behaviorsThe possible role of GABAA receptors and gephyrin in epileptogenesis.Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation.Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders.Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.Gephyrin: a central GABAergic synapse organizer.Currently recognized genes for schizophrenia: High-resolution chromosome ideogram representation.Complementary contributions of basolateral amygdala and orbitofrontal cortex to value learning under uncertainty.Lifetime autism spectrum features in a patient with a psychotic mixed episode who attempted suicide.Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity.S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency.Conditional neuroligin-2 knockout in adult medial prefrontal cortex links chronic changes in synaptic inhibition to cognitive impairments.Critical roles of αII spectrin in brain development and epileptic encephalopathy.Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.Inhibition in the amygdala anxiety circuitry.
P2860
Q21129104-77E5E286-A3E8-4991-B936-DDCA0349AD93Q26796321-CC5351FD-A9BC-4B57-B222-272C5E169DE4Q26798035-A08EEB52-6D82-4E15-9726-E6497278B31FQ28069757-5569CB0B-7FF1-4845-8D75-39C91263D578Q28070392-79897D18-7DA2-4ACD-ACBD-50E3D0E159D0Q28259487-FF5B19C3-A7B4-4D70-BFA0-C6CBF0D9D61AQ28540921-7FABA424-D6A3-45C3-965F-354AA4C401B7Q29147383-C8655097-0946-4E0C-A542-D5F06AFC4BA0Q30009298-801C6D95-6AC9-4DDC-87C5-60BBC962CA35Q30422050-016E4868-9099-42C2-BB3F-90636B2A334AQ30836646-1829B07A-F781-44DB-916E-192FD965F7B4Q30970563-8A73DA9D-58B6-41D9-951F-1BC50C0F39FDQ33647511-E26B8059-355E-403F-950B-14320196B205Q34764182-6E53B3E1-577E-40B0-894B-88E359E135D9Q34860194-06260D69-13B2-401F-B8B9-6DDEC605E65BQ35148746-EEBA3CCE-D249-4956-9EC6-A71F216E61D4Q35691087-FD961696-BF04-445B-8449-18F55BF181A2Q36887530-E52BDF8E-468B-439E-8D9A-0B941122FED3Q36891740-6F38A5E2-96F0-429C-9F98-FB951466C8BFQ37030003-DB6A507E-0766-4504-8629-A96FE48DB459Q37257128-AA2896E8-BA8F-4B3E-AC3E-A3633C52F000Q37349750-6D73E8CE-DEB2-4E6F-B129-6F69C51779BEQ37470598-2C7A1464-DB14-4960-A6DB-1AEC2AFAB277Q37694175-4883A053-88C2-4F26-8FB0-CF7679BE6669Q37708396-7AA0A9E1-C587-416F-A25A-D396564B0165Q38187700-D5F0A740-C6B4-49E4-B119-8CF074FE7A8CQ38424675-971C2EDF-B019-4FD7-A2C3-DB85FA0C40F7Q40437176-0CDD16EA-BA54-4AAE-B81A-354F332323A6Q42236180-425786D3-1D7E-4635-8195-817F3A70C16EQ42946573-660ABDD0-E746-468A-9D83-D16859B81307Q47140291-D6AAF33D-B6C9-436E-A4EB-A4A331101D7FQ47438228-D32E6505-24E2-4DA4-BFE1-3285BEDE1F83Q47723867-5E97EAC1-E087-4AFD-924B-115340470C8FQ47862542-404BA104-8054-4839-8467-DC8413B31F3BQ47868069-0C98F597-302C-440F-81EE-0C32283769F4Q50308164-0F7BA868-05B7-4CFA-A170-A9AEE292F4C3Q50610209-FF714430-16DF-420D-918A-13C87554AD04Q52113765-1A9C16EE-852D-4B33-AB1C-594A6C0AF360Q55098524-394FCF45-8BC9-4D97-9CE9-3FB4966855E1Q55339466-3A6A0658-10A7-428F-A250-A788F4BF8062
P2860
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Rare exonic deletions implicat ...... m, schizophrenia and seizures.
@en
Rare exonic deletions implicat ...... m, schizophrenia and seizures.
@nl
type
label
Rare exonic deletions implicat ...... m, schizophrenia and seizures.
@en
Rare exonic deletions implicat ...... m, schizophrenia and seizures.
@nl
prefLabel
Rare exonic deletions implicat ...... m, schizophrenia and seizures.
@en
Rare exonic deletions implicat ...... m, schizophrenia and seizures.
@nl
P2093
P2860
P50
P356
P1476
Rare exonic deletions implicat ...... m, schizophrenia and seizures.
@en
P2093
Anath C Lionel
Andrea K Vaags
Anne S Bassett
Bridget A Fernandez
Christian R Marshall
Christian Windpassinger
Daisuke Sato
Daniele Merico
Elyse B Mitchell
Erwin Petek
P2860
P304
P356
10.1093/HMG/DDT056
P50
P577
2013-02-07T00:00:00Z