Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor
about
Cloning and characterization of GEF-H1, a microtubule-associated guanine nucleotide exchange factor for Rac and Rho GTPasesSlowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteinsNegative regulation of Rho family GTPases Cdc42 and Rac2 by homodimer formationIdentification of a novel guanine nucleotide exchange factor for the Rho GTPaseCDC42 and FGD1 cause distinct signaling and transforming activities.An 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 retardationCellular functions of phosphatidylinositol 3-phosphate and FYVE domain proteinsOligomerization of DH domain is essential for Dbl-induced transformationRegulatory and signaling properties of the Vav familyFaciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane rufflesTruncation of C-mip (Tc-mip), a new proximal signaling protein, induces c-maf Th2 transcription factor and cytoskeleton reorganizationPeripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HRho guanine nucleotide exchange factors: regulators of Rho GTPase activity in development and diseaseNon-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black CattleStructure and mutagenesis of the Dbl homology domainCdc42: An essential Rho-type GTPase controlling eukaryotic cell polarity.A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)The trio guanine nucleotide exchange factor is a RhoA target. Binding of RhoA to the trio immunoglobulin-like domainCooperation of Cdc42 small G protein-activating and actin filament-binding activities of frabin in microspike formationPhenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patientsActivation of G1 progression, JNK mitogen-activated protein kinase, and actin filament assembly by the exchange factor FGD1Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinaseEndosomal localization of the autoantigen EEA1 is mediated by a zinc-binding FYVE fingerIdentification of a mouse p21Cdc42/Rac activated kinaseNexilin: a novel actin filament-binding protein localized at cell-matrix adherens junctionNovel rabphilin-3-like protein associates with insulin-containing granules in pancreatic beta cellsGrowth factor-induced tyrosine phosphorylation of Hrs, a novel 115-kilodalton protein with a structurally conserved putative zinc finger domainEffect of Fgd1 on cortactin in Arp2/3 complex-mediated actin assembly.Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.Novel alternative splicing of human faciogenital dysplasia 1 gene.Vaginal rhabdomyosarcoma in a patient with Noonan syndromeActivation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.Tyrosine phosphorylation of Dbl regulates GTPase signalingThe small GTP-binding protein Rho potentiates AP-1 transcription in T cells.The Sec14 homology domain regulates the cellular distribution and transforming activity of the Rho-specific guanine nucleotide exchange factor Dbs.
P2860
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P2860
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor
description
1994 nî lūn-bûn
@nan
1994 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Isolation and characterization ...... ine nucleotide exchange factor
@ast
Isolation and characterization ...... ine nucleotide exchange factor
@en
Isolation and characterization ...... ine nucleotide exchange factor
@en-gb
Isolation and characterization ...... ine nucleotide exchange factor
@nl
type
label
Isolation and characterization ...... ine nucleotide exchange factor
@ast
Isolation and characterization ...... ine nucleotide exchange factor
@en
Isolation and characterization ...... ine nucleotide exchange factor
@en-gb
Isolation and characterization ...... ine nucleotide exchange factor
@nl
prefLabel
Isolation and characterization ...... ine nucleotide exchange factor
@ast
Isolation and characterization ...... ine nucleotide exchange factor
@en
Isolation and characterization ...... ine nucleotide exchange factor
@en-gb
Isolation and characterization ...... ine nucleotide exchange factor
@nl
P2093
P3181
P1433
P1476
Isolation and characterization ...... ine nucleotide exchange factor
@en
P2093
C E Schwartz
J L Gorski
M E Porteous
N G Pasteris
R E Stevenson
R S Wilroy
T W Glover
P304
P3181
P356
10.1016/0092-8674(94)90552-5
P407
P577
1994-11-18T00:00:00Z