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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… 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal recessive inheritanceHypopigmentation disorderMuscle SpasticityRAB27A gene

Broader (3)

Immunologic Deficiency SyndromesLymphohistiocytosis, HemophagocyticPiebaldism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Chloroplast Glutamine Synthetase, the Key Regulator of Nitrogen Metabolism in Wheat, Performs Its Role by Fine Regulation of Enzyme Activity via Negative Cooperativity of Its Subunits
Glutamine synthetase (GS) is of central interest as the main route of ammonia assimilation in plants, and as a connection point… 
2015
2015
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding
Highly Cited
2012
Highly Cited
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… 
Review
2010
Review
2010
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations
Griscelli syndrome type 2 (GS2) is an autosomal‐recessive immunodeficiency caused by mutations in RAB27A, clinically… 
Review
2009
Review
2009
Griscelli syndrome: a model system to study vesicular trafficking
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or… 
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… 
Review
2008
Review
2008
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or… 
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… 
Highly Cited
2004
Highly Cited
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… 
Highly Cited
1978
Highly Cited
1978
A syndrome associating partial albinism and immunodeficiency.
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