Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H - Test2 - elhamkhani - TriplyDB

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

http://www.wikidata.org/entity/Q24676752

about

An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane ruffles Charcot-Marie-Tooth disease and intracellular traffic Rho guanine nucleotide exchange factors: regulators of Rho GTPase activity in development and disease TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂ RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development.Jab1 regulates Schwann cell proliferation and axonal sorting through p27.Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.Epstein-Barr virus-encoded LMP1 interacts with FGD4 to activate Cdc42 and thereby promote migration of nasopharyngeal carcinoma cells.CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592 Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.N-WASP is required for membrane wrapping and myelination by Schwann cells Identification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10).A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Polarization and myelination in myelinating glia.Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.The Caenorhabditis elegans Excretory System: A Model for Tubulogenesis, Cell Fate Specification, and Plasticity Molecular mechanisms of inherited demyelinating neuropathies.Genetic deletion of Cadm4 results in myelin abnormalities resembling Charcot-Marie-Tooth neuropathy.The function of RhoGTPases in axon ensheathment and myelination.GEFs in growth factor signaling.Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.Demyelinating prenatal and infantile developmental neuropathies.Use of pharmacogenetics for predicting cancer prognosis and treatment exposure, response and toxicity.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Germline pharmacogenetics of paclitaxel for cancer treatment.Cdc42 regulates Schwann cell radial sorting and myelin sheath folding through NF2/merlin-dependent and independent signaling Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Minireview: Role of genetic changes of faciogenital dysplasia protein 1 in human disease.A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.The FGD homologue EXC-5 regulates apical trafficking in C. elegans tubules.Global gene expression analysis reveals a link between NDRG1 and vesicle transport.Walking the interactome for prioritization of candidate disease genes.

P2860

23c3f0975e1acc1f5f1e2e18d5f2ea1e416b7d4a

P248

Q21144864-A21BE682-CD47-495A-83C7-E90F3AC94EBE Q24652635-E50DA720-E207-4034-8A2A-264F9C84E5F1 Q26824841-AC1EBE1B-9F99-4C09-AD0D-1FDD8CAC58CC Q26853181-C2546106-1CA0-48BA-B413-9279AE77F1DC Q27695648-3944EBAF-8BCF-4530-AFD3-8A18B8A1F31C Q30274944-6C692113-6A31-4778-BEEF-A706B9DAF2FD Q30564460-4655D9EE-4706-449C-9EEF-92D9028D4788 Q33967087-0F2EEFC0-887C-4C3F-A19E-5BE68ED91E9A Q34270437-9C95C88F-B433-4D35-A50D-98C3B42562FB Q34329675-DC5BDA8E-71F1-4151-B299-5F6200C28296 Q34768405-F69CA681-1F44-4068-A41F-F9CAE1C92A97 Q34913669-7708B063-210E-44FE-A0EE-549052329496 Q35210805-D7FC7EC8-9F8C-4F30-B6F3-1148B9725900 Q35313440-B9A2513E-72A4-4CBF-A5DA-3BAF86F00AA8 Q36243420-DE2FE31D-42EB-43D2-BECE-C28739233497 Q36474685-B2B3298A-C3AF-4E2E-9020-6B88F46E72B1 Q36493294-0D3C1C13-A53B-473B-886C-37542C5EE330 Q36530065-FACA103D-BE14-47F3-A3EA-7F1484DFF70B Q36534486-0A82E1F7-97FB-4435-95EE-EA6454887A84 Q36875639-1E349A85-545F-4F8D-907C-07225336150C Q36942808-2C60B4F7-D092-45D7-95A0-1EDDAA322015 Q37032402-81935D86-944B-4FB8-BD74-603282A3009A Q37040608-72B36D84-C074-4F87-83DF-56FEF1F1FBB4 Q37072597-474FD574-4E1F-4E11-89AF-AA2CB8BE899E Q37137982-1F8DC1EB-0E14-41F9-82AC-9B604AC46C74 Q37180610-1FFE130C-1BF7-45AB-A322-F6B94EAB5A6E Q37294507-0480B830-83A5-4DFB-B3F1-D1A3BE0A1DB1 Q37697478-16B782E8-87BC-46DE-981B-3A4D57E5995C Q37998518-E459819B-B707-4D76-A563-8E44B8BAEA1B Q38107101-E7554009-C7A5-4C63-B6F7-2D7F94F132D2 Q38115571-A3E9A2A8-22A4-4C1E-936C-A57201E8F946 Q38120289-3639573B-B7DC-469D-9F3C-ACB217C0CF80 Q38447137-67FD6BF4-C9B2-4755-AC63-904D5B3D4D4F Q38687390-17DF1F54-EB17-4E29-BE5F-9B60934ADA43 Q38801581-FC64F790-90EF-41FF-A70E-5673FAA10369 Q38839147-BEC1BA41-3B4C-4A9F-B05E-1CEC92AAAA31 Q38916443-A2330633-A732-4B5F-A5D1-421918C8452C Q39012662-FA70FCA3-79DF-4136-9C39-DD0822D455DE Q39027048-2C4B0510-D221-4ADB-B168-D9E6A8360643 Q39140568-25B6DF85-0960-49D3-B5CC-515ADC138E29

P2860

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

http://www.wikidata.org/entity/Q24676752

description

2007 nî lūn-bûn

@nan

2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2007年の論文

@ja

2007年論文

@yue

2007年論文

@zh-hant

2007年論文

@zh-hk

2007年論文

@zh-mo

2007年論文

@zh-tw

2007年论文

@wuu

name

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@ast

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@en

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@nl

type

label

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@ast

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@en

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@nl

prefLabel

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@ast

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@en

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@nl

P1433

Q24676752-48ECCDC5-34A5-466D-9F6D-6016CB644E71

P1476

Q24676752-F0D13A96-8492-42A8-8E4F-B02B0908BA47

P2093

Q24676752-0214A92C-D9B6-482A-BFA2-CB26ABF3B31F

Q24676752-3EBEEE42-1C2D-49C0-A02D-E5192767E8EB

Q24676752-437E9CF0-7F38-4D66-A84E-A9EEFBF708F0

Q24676752-54687BE9-4F1D-4A3D-AFD9-F61FC69768B3

Q24676752-55EBF064-1DB7-4476-9663-B21A1DAE152A

Q24676752-6115D9E9-1DF0-41E2-A428-F5C9E8BC210C

Q24676752-741E4FE4-05FF-472E-9A32-0937C24221B0

Q24676752-9F4E59E4-1790-40EC-A86D-C11CDD03B7FC

Q24676752-C2ADF4B1-8D9A-45BF-8F95-605A0E50A584

Q24676752-EA0ABC6E-687D-4F41-B129-56F38B414F7E

P2860

Q24676752-00C342DA-A6D0-457B-B089-38A0EE23F1AD

Q24676752-052434BE-23AD-420D-8438-D52049135CDE

Q24676752-056AE15B-57DE-44F7-8A37-AB392B36FC57

Q24676752-0841A960-00F1-4FBE-872F-D2514F064D95

Q24676752-0D59DADE-9777-488A-B910-BBAFA7490851

Q24676752-0FE3F9BC-AC47-4863-8728-82C54F236C7E

Q24676752-18589A63-A9F0-43D9-A961-5B14E7FB7D00

Q24676752-191B6CBC-C8E5-4B4F-A51D-E1DD6BE79388

Q24676752-1CED5391-A144-4B2B-AFD1-BF039F91D43D

Q24676752-21511059-DB62-40EA-B945-5627A5E5990C

P304

Q24676752-5782637E-C39D-4C95-80B9-C91DA480FA43

P31

Q24676752-AA6EE270-9AF2-40D9-9B3B-44875BDD3881

P356

Q24676752-E8D33030-8B4D-4507-A757-C62DA48E2DDD

P407

Q24676752-153D59B9-B2C0-40F7-ADA4-BC5DDAB86DD1

P433

Q24676752-AC728556-D321-4B06-A909-5FBD828F7508

P478

Q24676752-EECD92A1-2073-45FE-B43E-B63D4A4202AA

P50

Q24676752-16FDC3D6-4039-4C50-98B4-AD77739495E6

Q24676752-5838E4DE-3322-45AE-B5A1-5FEB2087726C

Q24676752-A18D5CA9-0A90-411C-98A7-AE58AD40917B

Q24676752-D27DFDA9-037F-434D-BDAC-0CE9E2C689F6

P577

Q24676752-9036E70A-E63B-4CA8-9136-8566B276A120

P5875

Q24676752-6E02103E-3CE1-47AD-BBAB-ED6BFD2A832F

P698

Q24676752-E9E0DC20-4C44-4CF8-92C7-1C250E1ECC93

P932

Q24676752-9696562C-D77B-42BF-A5AC-FDCFB1A26FD2

P356

P1433

American Journal of Human Genetics

P1476

Mutations in FGD4 encoding the ...... ve Charcot-Marie-Tooth type 4H

@en

P2093

Andre Mégarbané

http://www.w3.org/2001/XMLSchema#string

Cécile Baudot

http://www.w3.org/2001/XMLSchema#string

Djamel Grid

http://www.w3.org/2001/XMLSchema#string

Eliane Chouery

http://www.w3.org/2001/XMLSchema#string

Georg Haase

http://www.w3.org/2001/XMLSchema#string

Iréne Boccaccio

http://www.w3.org/2001/XMLSchema#string

Malika Chaouch

http://www.w3.org/2001/XMLSchema#string

Nora Kassouri

http://www.w3.org/2001/XMLSchema#string

Tarik Hamadouche

http://www.w3.org/2001/XMLSchema#string

Yannick Poitelon

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Cellular functions of phosphatidylinositol 3-phosphate and FYVE domain proteins

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

P304

1-16

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1086/518428

http://www.w3.org/2001/XMLSchema#string

P407

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

81

http://www.w3.org/2001/XMLSchema#string

P50

Arnaud Jacquier

Valerie Delague

Rosette Jabbour

P577

2007-07-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

6272023

http://www.w3.org/2001/XMLSchema#string

P698

17564959

http://www.w3.org/2001/XMLSchema#string

P932

1950914

http://www.w3.org/2001/XMLSchema#string