about
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationMutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.High prevalence of SLC6A8 deficiency in X-linked mental retardationX-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyThe novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardationThe chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesisTM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationTranscription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyX-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Strong synaptic transmission impact by copy number variations in schizophrenia.Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesA third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patientsThe reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behaviorX chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneAdvances in understanding - genetic basis of intellectual disabilityMouse Genetic Models of Human Brain DisordersMolecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disordersIL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathwayForce per cross-sectional area from molecules to muscles: a general property of biological motors.MINK and TNIK differentially act on Rap2-mediated signal transduction to regulate neuronal structure and AMPA receptor functionABI2-deficient mice exhibit defective cell migration, aberrant dendritic spine morphogenesis, and deficits in learning and memoryLocalization of human X chromosomal mental retardation (MRX) genes in chicken and comparison with the chicken genome sequence data.Lysine 43 is trimethylated in subunit C from bovine mitochondrial ATP synthase and in storage bodies associated with batten disease.X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.Deep ancestry of mammalian X chromosome revealed by comparison with the basal tetrapod Xenopus tropicalis.Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons.Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.The mouse: genetics meets behaviour.Genetics and pathophysiology of mental retardation.The epidemiology of mental retardation: challenges and opportunities in the new millennium.Pharmacological inactivation of the small GTPase Rac1 impairs long-term plasticity in the mouse hippocampus.The neurobiology of Rett syndrome.Modulation of dendritic spines and synaptic function by Rac1: a possible link to Fragile X syndrome pathology.Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.Regulation of spine morphology and synaptic function by LIMK and the actin cytoskeleton.Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.
P2860
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Monogenic causes of X-linked mental retardation.
@ast
Monogenic causes of X-linked mental retardation.
@en
Monogenic causes of X-linked mental retardation.
@nl
type
label
Monogenic causes of X-linked mental retardation.
@ast
Monogenic causes of X-linked mental retardation.
@en
Monogenic causes of X-linked mental retardation.
@nl
prefLabel
Monogenic causes of X-linked mental retardation.
@ast
Monogenic causes of X-linked mental retardation.
@en
Monogenic causes of X-linked mental retardation.
@nl
P356
P1476
Monogenic causes of X-linked mental retardation
@en
P2093
P2888
P304
P356
10.1038/35088558
P577
2001-09-01T00:00:00Z
P6179
1031165888