Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.
about
Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degenerationPolymorphisms within the canine MLPH gene are associated with dilute coat color in dogs.Paralemmin, a prenyl-palmitoyl-anchored phosphoprotein abundant in neurons and implicated in plasma membrane dynamics and cell process formationControl of confounding of genetic associations in stratified populationsRab27a: A key to melanosome transport in human melanocytesRab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcriptsGermline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin FragilityGriscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cellsA mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaThe Rab GTPase familyInhibition of dendrite formation in mouse melanocytes transiently transfected with antisense DNA to myosin VaMutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden miceEvidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5ACoat color and coat color pattern-related neurologic and neuro-ophthalmic diseasesBlack hair follicular dysplasia in Large Münsterländer dogs: clinical, histological and ultrastructural featuresCargos and genes: insights into vesicular transport from inherited human diseaseDefective granule exocytosis in Rab27a-deficient lymphocytes from Ashen miceA candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brainThe molecular pathology of primary immunodeficienciesChromosomal mapping, gene structure and characterization of the human and murine RAB27B geneClinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismRab and Arf proteins in genetic diseasesMyosin Vb mediated plasma membrane homeostasis regulates peridermal cell size and maintains tissue homeostasis in the zebrafish epidermisTwo-exon skipping within MLPH is associated with coat color dilution in rabbitsRole of Myosin Va in the plasticity of the vertebrate neuromuscular junction in vivoStructural basis of cargo recognitions for class V myosinsStructural Insights into Functional Overlapping and Differentiation among Myosin V MotorsStructural basis of myosin V Rab GTPase-dependent cargo recognitionA role for Vps1p, actin, and the Myo2p motor in peroxisome abundance and inheritance in Saccharomyces cerevisiae.Myosin-V is activated by binding secretory cargo and released in coordination with Rab/exocyst function.Vici syndrome: a reviewMyosin Vc is a molecular motor that functions in secretory granule traffickingEffect of ADP and ionic strength on the kinetic and motile properties of recombinant mouse myosin VGenome-Wide Meta-Analysis of Sciatica in Finnish PopulationIdentification of an organelle receptor for myosin-VaMyosin Va binding to neurofilaments is essential for correct myosin Va distribution and transport and neurofilament densityMolecular genetic dissection of mouse unconventional myosin-VA: tail region mutationsMyosin V exhibits a high duty cycle and large unitary displacementMutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism
P2860
Q21092441-B54D9F5B-3F15-4E3E-9B28-0A58DC6DE140Q21283794-41263932-4B77-4144-811F-62D91D3F0607Q22007992-2DEF822C-A9FA-4F53-BFC6-6D775A44C4AFQ22337167-659F49FA-12F0-4CDC-8039-E1FAC028B46BQ24290970-E9106F53-4500-4915-AEAE-9590FA42EC1DQ24303445-8C61B628-7C8D-4456-9B31-8A783978448BQ24304339-B311314B-E124-4566-B555-61612A034876Q24313435-7B05B550-66DA-4FEE-AAAB-D7B9FBD2546FQ24315756-10352C58-7F94-4F9A-B5E9-7C12CBD32EEBQ24531212-CE0895AA-F874-42DA-B801-76FFB0867A7CQ24542523-44B29309-4230-48AD-BE01-FFA998FDCA12Q24544879-9735DDF0-1B58-4B7C-89D3-311AF0207735Q24555217-337DA7EF-943C-477A-9872-5ADC96D9F04DQ24612570-C69D661A-3091-4710-B02E-2E48024B8E12Q24615712-D6EAB21C-ACCD-4B38-A24C-751EB9253856Q24634381-0E5A90B4-7821-4B01-9C43-394CF9E6348DQ24648345-5883C575-10C8-468D-A32E-9D2497CD28A0Q24671578-BC618542-3A86-4FFC-9F00-A3490E0BEA26Q24673084-3259824C-86EF-4D49-83E1-CDC1D9A6CCC0Q24685932-49A64363-8838-409D-9B08-A764D79FD781Q24795779-46A74902-26C3-4327-846C-FDA6C5B2064EQ26824806-885F34AC-B08A-4CA4-AA31-D53605483E1EQ26862704-435126B4-E065-4D23-9278-84D06B49FF5BQ27313515-27B2DE9F-B62E-459E-9994-FD0D1FA99DDCQ27335075-B16A67D6-9B23-4CA8-9F5E-E3D261BBB981Q27438136-885987E1-586A-4048-A7A6-8B7B0E5274FEQ27678783-537705E7-C544-4A5A-B95F-7F5FBC73A03BQ27680148-6944647D-EDB8-49E5-9E8B-5D9BEEF185A1Q27680629-2DC0C58E-1844-4D74-B92D-E7D8E4034819Q27929921-7EBEFA9D-3C66-415E-98DA-05141B4FA726Q27940249-E90B6D78-253F-4607-B231-336C53E840E7Q28068922-380F0514-904E-471E-A975-37FCE8402855Q28117478-DF277AE8-866B-4927-BEF1-DCEE5E32B95DQ28369753-AE2722D6-0FEF-4B78-B524-C6AFBC7A6133Q28392110-F04C7F16-AFDB-4B72-900E-A1AA394B145DQ28504759-242B0A31-CC79-42A5-8DDE-08F265F9B0A5Q28506070-92092436-5128-4E61-A60B-D8E8D7FDEB30Q28507012-A7BF6BB8-513F-494B-91FA-9F3C1F5358CDQ28512626-E8E5EFCB-DF07-4DDA-9A70-7B05D91C2C03Q28546782-B0156CA8-DB51-49ED-A4D9-85B270CFB98A
P2860
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
name
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@ast
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@en
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@nl
type
label
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@ast
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@en
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@nl
prefLabel
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@ast
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@en
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@nl
P2093
P356
P1433
P1476
Griscelli disease maps to chro ...... tations in the myosin-Va gene.
@en
P2093
Dufourcq-Lagelouse R
Griscelli C
Pastural E
de Saint Basile G
P2888
P304
P356
10.1038/NG0797-289
P407
P577
1997-07-01T00:00:00Z
P6179
1036320440