Mutations in GDI1 are responsible for X-linked non-specific mental retardation. - Test2 - elhamkhani - TriplyDB

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

http://www.wikidata.org/entity/Q34471146

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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome The Rab GTPase family The BAR domain proteins: molding membranes in fission, fusion, and phagy X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 Cargos and genes: insights into vesicular transport from inherited human disease A 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 patients Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus Functions of Rab Proteins at Presynaptic Sites Memory Formation Shaped by Astroglia Charcot-Marie-Tooth disease and intracellular traffic Regulation of small GTPases by GEFs, GAPs, and GDIs Rab and Arf proteins in genetic diseases Tracking individual secretory vesicles during exocytosis reveals an ordered and regulated process.Searching for signaling balance through the identification of genetic interactors of the Rab guanine-nucleotide dissociation inhibitor gdi-1 A new functional domain of guanine nucleotide dissociation inhibitor (alpha-GDI) involved in Rab recycling Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation Rab GTPases, membrane trafficking and diseases Biomarkers of systemic lupus erythematosus identified using mass spectrometry-based proteomics: a systematic review Characterization 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 MRX27 PAK in Alzheimer disease, Huntington disease and X-linked mental retardation Role of Rab3 GDP/GTP exchange protein in synaptic vesicle trafficking at the mouse neuromuscular junction Structure and expression of murine mgcRacGAP: its developmental regulation suggests a role for the Rac/MgcRacGAP signalling pathway in neurogenesis Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3 Rab-alphaGDI activity is regulated by a Hsp90 chaperone complex Region-specific astrogliosis in brains of mice heterozygous for mutations in the neurofibromatosis type 1 (Nf1) tumor suppressor Role of Rab GTPases in membrane traffic and cell physiology Identification of two evolutionarily conserved genes regulating processing of engulfed apoptotic cells.Structure of doubly prenylated Ypt1:GDI complex and the mechanism of GDI-mediated Rab recycling.Biochemical, molecular and behavioral phenotypes of Rab3A mutations in the mouse.Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.Proteomic analysis of lamellar bodies isolated from rat lungs Molecular mechanisms of neurite extension.Molecular approaches to the Rett syndrome gene.Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.MRX review.Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections.

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P2860

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

http://www.wikidata.org/entity/Q34471146

description

1998 nî lūn-bûn

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1998 թուականի Յունիսին հրատարակուած գիտական յօդուած

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1998 թվականի հունիսին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年论文

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name

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

@ast

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

@en

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

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type

label

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

@ast

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

@en

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

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prefLabel

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

@ast

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

@en

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

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Nature Genetics

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Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

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A K Gedeon

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A Tandon

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P2860

Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport

Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI)

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28

Structure and mutational analysis of Rab GDP-dissociation inhibitor

The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion

Cloning of a gene that is rearranged in patients with choroideraemia

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10.1038/487

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2

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Patrizia D'Adamo

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