A missense mutation in CASK causes FG syndrome in an Italian family
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientX-linked disorders with cerebellar dysgenesisCASK and CaMKII function in Drosophila memoryX-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASKComparative analysis of Neph gene expression in mouse and chicken developmentFG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.Identifying pathogenicity of human variants via paralog-based yeast complementation.Targeted deletion of CASK-interacting nucleosome assembly protein causes higher locomotor and exploratory activities.CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesAutism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in NeurodevelopmentPhenotypic and molecular insights into CASK-related disorders in males.Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice.Structural constraints and functional divergences in CASK evolution.Novel approaches for targeting kinases: allosteric inhibition, allosteric activation and pseudokinases.CASK and CaMKII function in the mushroom body α'/β' neurons during Drosophila memory formation.Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).CASK regulates CaMKII autophosphorylation in neuronal growth, calcium signaling, and learning.Probing Protein Kinase-ATP Interactions Using a Fluorescent ATP Analog.Dental treatment of a patient with Opitz G/BBB syndrome.The FG syndrome from a pathological perspective.Novel CASK mutations in cases with syndromic microcephaly.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.Structure and function of the guanylate kinase-like domain of the MAGUK family scaffold proteins
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P2860
A missense mutation in CASK causes FG syndrome in an Italian family
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 05 February 2009
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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
A missense mutation in CASK causes FG syndrome in an Italian family
@en
A missense mutation in CASK causes FG syndrome in an Italian family.
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type
label
A missense mutation in CASK causes FG syndrome in an Italian family
@en
A missense mutation in CASK causes FG syndrome in an Italian family.
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prefLabel
A missense mutation in CASK causes FG syndrome in an Italian family
@en
A missense mutation in CASK causes FG syndrome in an Italian family.
@nl
P2093
P2860
P50
P1476
A missense mutation in CASK causes FG syndrome in an Italian family
@en
P2093
Charles E Schwartz
Ettore Bismuto
Francesca D'Amico
Giovanni Neri
Ida Luisa Rotundo
Stefania Aurino
Valentina Saccone
P2860
P304
P356
10.1016/J.AJHG.2008.12.018
P407
P577
2009-02-05T00:00:00Z