Entity

Time filter

Source Type

Le Touquet – Paris-Plage, France

Boztug K.,Austrian Academy of Sciences | Boztug K.,Medical University of Vienna | Jarvinen P.M.,Ludwig Maximilians University of Munich | Salzer E.,Austrian Academy of Sciences | And 33 more authors.
Nature Genetics | Year: 2014

The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling the differentiation, maintenance and decay of neutrophils. We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals with SCN. JAGN1-mutant granulocytes are characterized by ultrastructural defects, a paucity of granules, aberrant N-glycosylation of multiple proteins and increased incidence of apoptosis. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signaling. JAGN1 emerges as a factor that is necessary in the differentiation and survival of neutrophils. Source


Boztug K.,Austrian Academy of Sciences | Boztug K.,Medical University of Vienna | Jarvinen P.M.,Ludwig Maximilians University of Munich | Salzer E.,Austrian Academy of Sciences | And 33 more authors.
Nature Genetics | Year: 2014

The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling the differentiation, maintenance and decay of neutrophils. We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals with SCN. JAGN1-mutant granulocytes are characterized by ultrastructural defects, a paucity of granules, aberrant N-glycosylation of multiple proteins and increased incidence of apoptosis. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signaling. JAGN1 emerges as a factor that is necessary in the differentiation and survival of neutrophils. © 2014 Nature America, Inc. All rights reserved. Source

Discover hidden collaborations