Genetic Defects in Severe Congenital Neutropenia: Emerging Insights into Life and Death of Human Neutrophil Granulocytes

Transcription Factor Gfi1 Restricts B Cell-Mediated Autoimmunity

(2014) C. Rathinam et al.   JOURNAL OF IMMUNOLOGY

HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI

(2010) Kaan Boztug et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular interaction between HAX-1 and XIAP inhibits apoptosis

(2010) Young Ji Kang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

(2010) D. H. McDermott et al.   BLOOD

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase- -deficient neutrophils in a congenital neutropenia syndrome

(2010) H. S. Jun et al.   BLOOD

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

(2010) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deregulation of Mitochondrial Membrane Potential by Mitochondrial Insertion of Granzyme B and Direct Hax-1 Cleavage

(2010) Jie Han et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The classical swine fever virus N-terminal protease Npro binds to cellular HAX-1

(2010) H. L. Johns et al.   JOURNAL OF GENERAL VIROLOGY

Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: Evidence for phenotype determination by modifying genes

(2010) Peter E. Newburger et al.   PEDIATRIC BLOOD & CANCER

Gfi1 integrates progenitor versus granulocytic transcriptional programming

(2009) S. R. Horman et al.   BLOOD

Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1

(2009) J. Skokowa et al.   BLOOD

Gfi1 regulates miR-21 and miR-196b to control myelopoiesis

(2009) Chinavenmeni S. Velu et al.   BLOOD

Hax1 lacks BH modules and is peripherally associated to heavy membranes: implications for Omi/HtrA2 and PARL activity in the regulation of mitochondrial stress and apoptosis

(2009) D V Jeyaraju et al.   CELL DEATH AND DIFFERENTIATION

Down-regulation of Gfi-1 expression by TGF-β is important for differentiation of Th17 and CD103+inducible regulatory T cells

(2009) Jinfang Zhu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Hepatitis C Virus Core Protein and Cellular Protein HAX-1 Promote 5-Fluorouracil-Mediated Hepatocyte Growth Inhibition

(2009) A. Banerjee et al.   JOURNAL OF VIROLOGY

Contributions to Neutropenia from PFAAP5 (N4BP2L2), a Novel Protein Mediating Transcriptional Repressor Cooperation between Gfi1 and Neutrophil Elastase

(2009) S. J. Salipante et al.   MOLECULAR AND CELLULAR BIOLOGY

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

The anti-apoptotic protein HAX-1 is a regulator of cardiac function

(2009) W. Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Subcellular mRNA Localization in Animal Cells and Why It Matters

(2009) C. E. Holt et al.   SCIENCE

Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene

(2009) David Reich et al.   PLoS Genetics

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

(2008) M. Germeshausen et al.   BLOOD

Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib

(2008) S. Y. Kim et al.   BLOOD

A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene

(2008) Karolien Beel et al.   BRITISH JOURNAL OF HAEMATOLOGY

Mutations in Growth Factor Independent-1 Associated with Human Neutropenia Block Murine Granulopoiesis through Colony Stimulating Factor-1

(2008) Adrian Zarebski et al.   IMMUNITY

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specificHAX1mutations

(2008) G. Carlsson et al.   JOURNAL OF INTERNAL MEDICINE

The Anti-apoptotic Protein HAX-1 Interacts with SERCA2 and Regulates Its Protein Levels to Promote Cell Survival

(2008) Elizabeth Vafiadaki et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2008) Jyh-Rong Chao et al.   NATURE

From endoplasmic-reticulum stress to the inflammatory response

(2008) Kezhong Zhang et al.   NATURE

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

(2008) Chantal Lagresle-Peyrou et al.   NATURE GENETICS

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

(2008) Ulrich Pannicke et al.   NATURE GENETICS