(Q29620423)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10835631%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome (English)

2 references

PubMed

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=10835631

30 April 2017

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7 November 2019

1 reference

1

1 reference

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Geneviève de Saint Basile

7 November 2019

11

1 reference

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7 November 2019

7

N Wulffraat

1 reference

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7 November 2019

author name string

E Pastural

2

1 reference

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7 November 2019

J Feldmann

3

1 reference

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7 November 2019

S Certain

4

1 reference

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7 November 2019

F Ersoy

5

1 reference

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7 November 2019

S Dupuis

6

1 reference

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7 November 2019

D Bianchi

8

1 reference

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7 November 2019

A Fischer

9

1 reference

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7 November 2019

F Le Deist

10

1 reference

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7 November 2019

language of work or name

1 reference

30 April 2017

publication date

1 June 2000

1 reference

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7 November 2019

2 references

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30 April 2017

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7 November 2019

volume

25

2 references

PubMed

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30 April 2017

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7 November 2019

issue

2

2 references

PubMed

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30 April 2017

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7 November 2019

page(s)

173-176

1 reference

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A syndrome associating partial albinism and immunodeficiency

7 November 2019

cites work

1 reference

7 January 2021

Partial albinism with immunodeficiency (Griscelli syndrome)

1 reference

7 January 2021

A kindred with Griscelli disease: spectrum of neurological involvement

1 reference

7 January 2021

Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Cloning, mapping and characterization of the human RAB27A gene.

1 reference

7 January 2021

Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets

1 reference

7 January 2021

Rab GTPases: master regulators of membrane trafficking

1 reference

7 January 2021

The diversity of Rab proteins in vesicle transport

1 reference

7 January 2021

The role of ARF and Rab GTPases in membrane transport

1 reference

7 January 2021

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

1 reference

7 January 2021

Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation

1 reference

7 January 2021

Brain myosin-V is a two-headed unconventional myosin with motor activity

1 reference

7 January 2021

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

1 reference

7 January 2021

Brain myosin V is a synaptic vesicle-associated motor protein: evidence for a Ca2+-dependent interaction with the synaptobrevin-synaptophysin complex

1 reference

7 January 2021

Interaction of a Golgi-associated kinesin-like protein with Rab6

1 reference

7 January 2021

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

1 reference

7 January 2021

Regulated secretion from hemopoietic cells

1 reference

7 January 2021

Binding of CD4 ligands induces tyrosine phosphorylation of phosphatidylinositol-3 kinase p110 subunit.

1 reference

7 January 2021

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

1 reference

7 January 2021

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=10835631

Identifiers

3 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10835631%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 November 2019

1045652807

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=10835631

3 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017