(Q42820740)

8 November 2017

Griscelli syndrome types 1 and 2. (English)

1 reference

8 November 2017

1 reference

1

1 reference

Geneviève de Saint Basile

8 November 2017

series ordinal

3

object named as

Geneviève de Saint Basile

0 references

Alain Fischer

series ordinal

2

object named as

Alain Fischer

1 reference

8 November 2017

language of work or name

English

0 references

publication date

1 November 2002

1 reference

American Journal of Human Genetics

8 November 2017

1 reference

8 November 2017

71

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8 November 2017

5

1 reference

8 November 2017

1237-8; author reply 1238

1 reference

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

8 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

Rab GTPases, intracellular traffic and disease.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

The melanosome: membrane dynamics in black and white

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

The role of cytotoxicity in lymphocyte homeostasis.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385107

12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease)

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12452176

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/344140

1 reference

8 November 2017

1 reference

8 November 2017

PubMed publication ID

12452176

1 reference