FAQ

GRISCELLI SYNDROME, TYPE 2

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

Topic mentions per year

Topic mentions per year

1980-2016
051019802016

Related topics

Related topics

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

Immunologic Deficiency SyndromesLymphohistiocytosis, HemophagocyticPiebaldism

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
GRISCELLI SYNDROME, TYPE 2
Seizures
Immunologic Deficiency Syndromes
Autosomal recessive inheritance
Muscle Spasticity
Lymphohistiocytosis, Hemophagocytic

Papers overview

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Highly Cited
2012
Highly Cited
2012
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes.
Familial hemophagocytic lymphohistiocytosis (FHL) is a life-threatening disorder of immune regulation caused by defects in… (More)
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2011
2011
Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2.
Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically… (More)
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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… (More)
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2009
2009
Positive Line Bundles on Arithmetic Varieties
  • ARITHMETIC VARIETIES, SHOUWU ZHANG
  • 2009
Leading term of the Hilbert function. For an arithmetic variety X which we refer to as a projective and flat integral scheme over… (More)
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2008
2008
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).
Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and is a rare and potentially fatal immune disorder… (More)
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2008
2008
Griscelli syndrome type 2: a rare and lethal disorder.
Griscelli syndrome is a rare autosomal recessive disorder. It is characterized by pigment dilution and variable immune deficiency… (More)
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2008
2008
Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot
Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases… (More)
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Highly Cited
2005
Highly Cited
2005
Expression, regulation, and triglyceride hydrolase activity of Adiponutrin family members.
Adiponutrin and a related protein, adipocyte triglyceride lipase (ATGL; also known as Desnutrin), were recently described as… (More)
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2003
2003
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.
Rab27a is a member of the Rab family of small GTPase proteins, and thus far is the first member to be associated with a human… (More)
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Highly Cited
1991
Highly Cited
1991
A Role for Glutamine Synthetase in the Remobilization of Leaf Nitrogen during Natural Senescence in Rice Leaves.
Changes in the levels of cytosolic glutamine synthetase (GS1) and chloroplastic glutamine synthetase (GS2) polypeptides and of… (More)
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