Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
about
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domMutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationThe novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardationLoss of WAVE-1 causes sensorimotor retardation and reduced learning and memory in mice.XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingDesign of versatile biochemical switches that respond to amplitude, duration, and spatial cuesA novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palateThe F-BAR domain of srGAP2 induces membrane protrusions required for neuronal migration and morphogenesisSynapse formation is regulated by the signaling adaptor GIT1.Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesMutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HMapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneityA 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 patientsMutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusRegulation of small GTPases by GEFs, GAPs, and GDIsA RAC/CDC-42-independent GIT/PIX/PAK signaling pathway mediates cell migration in C. elegansSearching for signaling balance through the identification of genetic interactors of the Rab guanine-nucleotide dissociation inhibitor gdi-1Actin-Dependent Alterations of Dendritic Spine Morphology in ShankopathiesCharacterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX2722q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndromeAbl2/Arg controls dendritic spine and dendrite arbor stability via distinct cytoskeletal control pathwaysRegulation of RhoGEF activity by intramolecular and intermolecular SH3 domain interactions.Novel regulatory mechanisms for the Dbl family guanine nucleotide exchange factor Cool-2/alpha-Pix.RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development.Identification of a Protein Network Driving Neuritogenesis of MGE-Derived GABAergic Interneurons.αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor ReceptorRas and Rap signaling in synaptic plasticity and mental disorders.Dendritic Spines: Similarities with Protrusions and Adhesions in Migrating CellsImpaired fear response in mice lacking GIT1.A WAVE-1 and WRP signaling complex regulates spine density, synaptic plasticity, and memory.Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX)Phosphorylation of the cool-1/beta-Pix protein serves as a regulatory signal for the migration and invasive activity of Src-transformed cells.The CNK2 scaffold interacts with vilse and modulates Rac cycling during spine morphogenesis in hippocampal neurons.Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.Impaired spine formation and learning in GPCR kinase 2 interacting protein-1 (GIT1) knockout mice.Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationFunctional plasticity of CH domains.
P2860
Q24295273-467D2222-D8E6-4C19-961A-22ED2C4E2605Q24531256-69B01C79-6411-4FD7-A267-EF5F942A4079Q24532155-CF81B901-1775-4237-925D-A35A6B012A8EQ24535650-E42AE49E-E4F8-4F2F-BB1E-EF2A82FC7D49Q24550753-89EB55B7-D259-4773-9E7C-17D9E4BF69D6Q24632796-6788C409-B6A9-40C5-B426-9EE83588B744Q24646003-23A17828-7316-43A3-B2ED-238215E4F92FQ24650497-ABDAD2F0-F158-421F-8600-690D4D6B5F08Q24654793-33B8C2B3-BF05-484B-894E-D909C5323111Q24675182-20F568D7-4A6B-4606-A88A-59C8F148D497Q24676259-BBD992BF-5A56-4E82-8617-B4AFABC8552EQ24676752-67EC9186-1182-432A-8248-54182CF1A8AAQ24678468-681F9381-86F6-45ED-8605-4BEDA8FD19ACQ24678726-1B6D50A1-3E62-43D7-AFD5-2BE1A632A44CQ24682652-CFC8D43E-088C-459F-902E-342D06391F7DQ26825750-4466A686-04D8-4534-9234-82A5F41CDB30Q27313581-CAFCCBD2-E6A5-4CB3-BD56-8FF7768516DEQ27329446-AEB73B68-C363-4FC8-975D-5FB7358A17D6Q28066333-F591A140-F928-4CB4-8508-2F3217C3B883Q28187375-DB803AF8-3947-4428-A739-1EE19F2E17B3Q28300418-85139625-3EC4-4CB0-BD01-FE3A68C25E99Q28508552-7B7D052A-8BB4-4B90-A659-5DF92B084B2CQ30159819-BC5E38A4-881E-4B89-BFB9-01768B43B78FQ30163879-7DB688C7-3BFC-4359-A20D-84933E048AEAQ30274944-DD2A7116-3094-402B-86EF-791C7D0392C8Q30354530-090A7862-08A3-42FC-87A5-854586B44D0DQ30375559-2BCE43A3-49E1-4401-98CA-8686CD21DE38Q30431817-BEF99819-C1AE-40F3-A1E9-208E4DE36A06Q30435838-BC16F3C5-4D2A-4B48-8C88-A67A7A227D85Q30480461-605BCD37-4ECB-4D80-832D-BFFC79C3733EQ30542623-355D6440-FDBB-4DC7-80F7-F05A16CE4125Q33318140-07BCEE33-E344-4A01-AE89-9D962C30BFE1Q33550652-8A45899B-52D3-4652-9FC7-8A88050A6FD9Q33551318-C4C8AFEE-3F62-4708-A061-3C34CE1C970FQ33675115-098833EE-FCAC-475F-BE37-1882C2573F4DQ33727509-130DB5A7-BE7B-42AF-B4D4-425E2C25A50BQ33819768-2A3C0B66-A08B-411E-972C-1684AF9FAA9BQ33967213-A1107B1F-13AD-4CFB-A32E-1BDA231F0513Q33998564-125701A9-8BC6-442A-9CE0-5FAEC32F3EA6Q34120320-4A8D093A-4762-4EE4-8404-59C78D9ACA18
P2860
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
description
2000 nî lūn-bûn
@nan
2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@ast
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@en
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@en-gb
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@nl
type
label
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@ast
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@en
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@en-gb
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@nl
prefLabel
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@ast
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@en
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@en-gb
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@nl
P2093
P921
P3181
P356
P1433
P1476
Mutations in ARHGEF6, encoding ...... th X-linked mental retardation
@en
P2093
H G Nothwang
H H Ropers
H van Bokhoven
P2888
P304
P3181
P356
10.1038/80002
P407
P50
P577
2000-10-01T00:00:00Z
P5875
P6179
1001921857