Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
BackgroundGlutamine synthetase (GS) catalyzes the first step of nitrogen assimilation in plant cell. The main GS are classified… Expand
  • figure 1
  • figure 2
  • figure 3
  • table 1
  • figure 4
Is this relevant?
2012
2012
This paper describes a synchronized measurement system combining image and pressure data to automatically record the angle of the… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
Is this relevant?
2010
2010
Human Griscelli syndrome type 2 (GS-2) is characterized by partial albinism and a severe immunologic disorder as a result of… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2009
2009
Acidification of soils may release water soluble, toxic aluminium species from clay minerals. Al interferes with a wide range of… Expand
  • figure 1
  • figure 3
  • figure 2
  • figure 4
  • figure 5
Is this relevant?
2009
2009
BACKGROUND Griscelli syndrome type 2 (GS2), the X-linked lymphoproliferative (XLP) and the Chédiak-Higashi (CHS) syndromes are… Expand
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Griscelli syndrome type 2 (GS2) is a genetic disorder in which patients exhibit life-threatening defects of cytotoxic T… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2005
Highly Cited
2005
The monomeric small GTPase Rab27a is specifically localized on both secretory granules and lysosome-related organelles. Although… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
Is this relevant?
2004
2004
Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1995
Highly Cited
1995
A distinct cultivar of Hypericum plant named 'Bosakin', characterized by its long flowering stems; large dark red berries; dark… Expand
  • figure 2.3
  • figure 2.6
  • figure 2.8
  • figure 2.10
  • figure 2.11
Is this relevant?
Highly Cited
1978
Highly Cited
1978
Two unrelated patients with partial albinism, frequent pyogenic infections and acute episodes of fever, neutropenia and… Expand
Is this relevant?