Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
By Gaël Ménasché, É. Pastural, Jérôme Feldmann, S. Certain, F. Ersoy, S. Dupuis, N. Wulffraat, Diana W. Bianchi, A. Fischer, F. Deist and 1 more. Nature Genetics, 2000
961 citations recorded by the source corpus.
Subfields: Genetics, Hematology, Immunology
View Paper: https://www.semanticscholar.org/paper/4f9fa8053acb9422e969e74a3f7f9f52b5db8c3f
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
- A. Morgan
- R. Burgoyne
- G. Janka
Citations in the corpus
- Secretory granule exocytosis. (2003, background): “A mutation in mice (ashen) that results in a pigmentation defect was found to reside in Rab 27a (840), and mutations in this gene have also been found in a human disorder known as Griscelli syndrome (487).”
- Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. (2011, neutral): “Mean/median age, mo (range) 24/8 (0-184) 16/2 (0-145) (2*) 23/4 (0-137) 15/4 (0-150) (2*) 51/24 (2-184) (1*)”
- Familial and acquired hemophagocytic lymphohistiocytosis (2006, background): “In patients with Griscelli syndrome tpye 2 (GS-2), immune dysfunction results from mutations in RAB27A, encoding a member of the small GTPase family [75] (Table 2).”