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GRISCELLI SYNDROME, TYPE 2

Known as: PAID Syndrome, Partial albinism and immunodeficiency, Griscelli syndrome type 2 
A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and… Expand
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal recessive inheritanceHypopigmentation disorderMuscle SpasticityRAB27A gene
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Broader (3)

Immunologic Deficiency SyndromesLymphohistiocytosis, HemophagocyticPiebaldism

Papers overview

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2015
2015
Mineral nitrogen sources differently affect root glutamine synthetase isoforms and amino acid balance among organs in maize
BackgroundGlutamine synthetase (GS) catalyzes the first step of nitrogen assimilation in plant cell. The main GS are classified… Expand
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2012
2012
Automatic measurement of touch and release angles of the fetlock joint for lameness detection in dairy cattle using vision techniques.
This paper describes a synchronized measurement system combining image and pressure data to automatically record the angle of the… Expand
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2010
2010
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.
Human Griscelli syndrome type 2 (GS-2) is characterized by partial albinism and a severe immunologic disorder as a result of… Expand
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2009
2009
Chloroplastic glutamine synthetase is activated by direct binding of aluminium.
Acidification of soils may release water soluble, toxic aluminium species from clay minerals. Al interferes with a wide range of… Expand
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2009
2009
Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy.
BACKGROUND Griscelli syndrome type 2 (GS2), the X-linked lymphoproliferative (XLP) and the Chédiak-Higashi (CHS) syndromes are… Expand
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Highly Cited
2005
Highly Cited
2005
Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells.
Griscelli syndrome type 2 (GS2) is a genetic disorder in which patients exhibit life-threatening defects of cytotoxic T… Expand
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Highly Cited
2005
Highly Cited
2005
Rab27a mediates the tight docking of insulin granules onto the plasma membrane during glucose stimulation.
The monomeric small GTPase Rab27a is specifically localized on both secretory granules and lysosome-related organelles. Although… Expand
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2004
2004
Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer of RAB27A Gene
Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a… Expand
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Highly Cited
1995
Highly Cited
1995
GRASP: Recognition of Australian Sign Language Using Instrumented Gloves
A distinct cultivar of Hypericum plant named 'Bosakin', characterized by its long flowering stems; large dark red berries; dark… Expand
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Highly Cited
1978
Highly Cited
1978
A syndrome associating partial albinism and immunodeficiency.
Two unrelated patients with partial albinism, frequent pyogenic infections and acute episodes of fever, neutropenia and… Expand
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