A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Christoph Klein, Magda Grudzien, Giridharan Appaswamy et al. · Nature Genetics · 2006 · 504 citations

Life Sciences, Genetics, Molecular Genetics +10

A Syndrome with Congenital Neutropenia and Mutations in<i>G6PC3</i>

Kaan Boztuǧ, Giridharan Appaswamy, Angel Ashikov et al. · New England Journal of Medicine · 2008 · 349 citations · Full text

Medicine, Genetics, Molecular Genetics +17

HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases

Yasuyuki Suzuki, Corinne Demolière, Daisuke Kitamura et al. · The Journal of Immunology · 1997 · 261 citations · Full text

Life Sciences, Biochemistry, Cell Biology +13

Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons

Jyh-Rong Chao, Evan Parganas, Kelli L. Boyd et al. · Nature · 2008 · 253 citations

Life Sciences, Cell Biology, Molecular Biology +6

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

Manuela Germeshausen, Magda Grudzien, Cornelia Zeidler et al. · Blood · 2008 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9