(Q24313435)

Geneviève de Saint Basile

8

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9

Geneviève de Saint Basile

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Gael Ménasche

1

Gaël Ménasché

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Jérôme Feldmann

4

Jérôme Feldmann

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Ozden Sanal

3

Ozden Sanal

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Ilhan Tezcan

5

Ilhan Tezcan

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Fügen Ersoy

6

Fügen Ersoy

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author name string

Chen Hsuan Ho

Journal of Clinical Investigation

2

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language of work or name

English

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publication date

August 2003

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published in

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volume

112

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page(s)

450-6

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issue

3

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Rab27a: A key to melanosome transport in human melanocytes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

The Sequence of the Human Genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Identification of an organelle receptor for myosin-Va

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Structural basis of Rab effector specificity: crystal structure of the small G protein Rab3A complexed with the effector domain of rabphilin-3A

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Human myosin V gene produces different transcripts in a cell type-specific manner

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Molecular genetic dissection of mouse unconventional myosin-VA: head region mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

A comprehensive genetic map of the human genome based on 5,264 microsatellites

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Cytotoxicity mediated by T cells and natural killer cells is greatly impaired in perforin-deficient mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

A syndrome associating partial albinism and immunodeficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

The role of cytotoxicity in lymphocyte homeostasis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

A role for perforin in downregulating T-cell responses during chronic viral infection.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

An efficient PCR mutagenesis strategy without gel purification [correction of "purificiation"] step that is amenable to automation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Rab27a is required for regulated secretion in cytotoxic T lymphocytes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=166299

Homeostatic regulation of CD8+ T cells by perforin

29 November 2018

1 reference

12 December 2020

Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MuLV genome

1 reference

12 December 2020

Treatment of hemophagocytic lymphohistiocytosis with chemotherapy and bone marrow transplantation: a single-center study of 22 cases

1 reference

12 December 2020

Myosin V in the brain: mutations lead to neurological defects

1 reference

12 December 2020