(Q47427279)

16 January 2018

title

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. (English)

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16 January 2018

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4

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author name string

João C S Bizario

1

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16 January 2018

Jérôme Feldmann

2

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16 January 2018

Fabíola A Castro

3

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16 January 2018

Cristina M A Jacob

5

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16 January 2018

L Cristofani

6

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16 January 2018

Erasmo B Casella

7

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16 January 2018

Júlio C Voltarelli

8

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16 January 2018

Geneviève de Saint-Basile

9

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16 January 2018

Enilza M Espreafico

10

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16 January 2018

publication date

1 July 2004

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16 January 2018

Journal of Clinical Immunology

published in

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16 January 2018

volume

24

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16 January 2018

page(s)

397-410

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16 January 2018

issue

4

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16 January 2018

https://scigraph.springernature.com/pub.10.1023/b:joci.0000029119.83799.cb

exact match

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cites work

Of yeast, mice, and men. Rab proteins and organelle transport

1 reference

12 December 2020

The role of cytotoxicity in lymphocyte homeostasis.

1 reference

12 December 2020

A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport

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12 December 2020

Novel myosin heavy chain encoded by murine dilute coat colour locus

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12 December 2020

NK cell granule exocytosis and cytokine production inhibited by Ly-49A engagement

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12 December 2020

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A

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12 December 2020

Biochemical and immunological characterization of p190-calmodulin complex from vertebrate brain: a novel calmodulin-binding myosin

1 reference

12 December 2020

Myosin-V, a versatile motor for short-range vesicle transport

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12 December 2020

Effective control of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis with immunochemotherapy. Histiocyte Society

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12 December 2020

The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes

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12 December 2020

Myosin V and iNOS expression is enhanced in J774 murine macrophages treated with IFN-gamma.

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12 December 2020

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

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12 December 2020

Rab27a is required for regulated secretion in cytotoxic T lymphocytes

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12 December 2020

Partial albinism with immunodeficiency (Griscelli syndrome)

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12 December 2020

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

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12 December 2020

gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function.

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12 December 2020

Pigment Cells: A Model for the Study of Organelle Transport

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12 December 2020

Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement

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12 December 2020

Melanophilin, the product of the leaden locus, is required for targeting of myosin-Va to melanosomes

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12 December 2020

Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions

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12 December 2020

The yeast class V myosins, Myo2p and Myo4p, are nonprocessive actin-based motors

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12 December 2020

Rapid flow cytometric assay for the assessment of natural killer cell activity

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12 December 2020

Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice

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12 December 2020

Rab GTPases, intracellular traffic and disease.

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12 December 2020

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

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12 December 2020

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity

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12 December 2020

Myosin-V colocalizes with MHC class II in blood mononuclear cells and is up-regulated by T-lymphocyte activation

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12 December 2020

Rab27a regulates the peripheral distribution of melanosomes in melanocytes

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12 December 2020

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

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12 December 2020

Identification of an organelle receptor for myosin-Va

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12 December 2020

Rab27a: A key to melanosome transport in human melanocytes

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12 December 2020

Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport

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12 December 2020

Primary structure and cellular localization of chicken brain myosin-V (p190), an unconventional myosin with calmodulin light chains

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12 December 2020

Motor proteins: myosin V--the multi-purpose transport motor

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12 December 2020

Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome)

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12 December 2020

Generation of retroviral vector for clinical studies using transient transfection

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12 December 2020

High-dose methylprednisolone and VP-16 in treatment of Griscelli syndrome with central nervous system involvement

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12 December 2020

A syndrome associating partial albinism and immunodeficiency

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12 December 2020

Griscelli disease with cerebral involvement

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12 December 2020

Human myosin-Vc is a novel class V myosin expressed in epithelial cells

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12 December 2020

Mixed leukocyte cultures in transplantation immunology

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12 December 2020

Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice

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12 December 2020

Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

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12 December 2020

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

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12 December 2020

10.1023/B:JOCI.0000029119.83799.CB

Identifiers

DOI

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16 January 2018

Dimensions Publication ID

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16 January 2018