Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
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Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesA meta-analysis of gene expression quantitative trait loci in brain.Kalirin-9 and Kalirin-12 Play Essential Roles in Dendritic Outgrowth and Branching.Molecular subtyping and improved treatment of neurodevelopmental disease.De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyAre Molecules Involved in Neuritogenesis and Axon Guidance Related to Autism Pathogenesis?Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Dendrite and spine modifications in autism and related neurodevelopmental disorders in patients and animal models.The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and δ-Catenin Signaling.Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity.FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis.Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 24 April 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Loss of function of KIAA2022 c ...... and impairs neurite outgrowth.
@en
Loss of function of KIAA2022 c ...... and impairs neurite outgrowth.
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type
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Loss of function of KIAA2022 c ...... and impairs neurite outgrowth.
@en
Loss of function of KIAA2022 c ...... and impairs neurite outgrowth.
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prefLabel
Loss of function of KIAA2022 c ...... and impairs neurite outgrowth.
@en
Loss of function of KIAA2022 c ...... and impairs neurite outgrowth.
@nl
P2093
P2860
P50
P921
P356
P1476
Loss of function of KIAA2022 c ...... and impairs neurite outgrowth.
@en
P2093
Ana Medeira
Arjan P M de Brouwer
Christelle Cabrol
Céline Bonnet
Emilie Landais
Heng-Ye Man
Jacques Motte
Juliette Dupont
Marlène Rio
Martine Doco-Fenzy
P2860
P304
P356
10.1093/HMG/DDT187
P577
2013-04-24T00:00:00Z