Associated Papers
HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
Pogozhykh D et al.
British Journal of Haematology, 2023
Anti-apoptotic HAX-1 suppresses cell apoptosis by promoting c-Abl kinase-involved ROS clearance.
Dong Q et al.
Cell Death & Disease, 2022
Kostmann disease and other forms of severe congenital neutropenia.
Fadeel B et al.
Acta Paediatrica (oslo, Norway : 1992), 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V et al.
International Journal of Molecular Sciences, 2020
Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review.
Lyu B et al.
Frontiers in Pediatrics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Cyclic manner of neutropenia in a patient with HAX-1 mutation.
Cipe FE et al.
Pediatric Hematology and Oncology, 2018
Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
Cekic S et al.
Journal of Clinical Immunology, 2017
Severe congenital neutropenias.
Skokowa J et al.
Nature Reviews. Disease Primers, 2017
Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).
Klein C
Journal of Clinical Immunology, 2017
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
Roques G et al.
Pediatric Blood & Cancer, 2014
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.
Carlsson G et al.
British Journal of Haematology, 2012
Hematopoietic stem cell transplantation in severe congenital neutropenia.
Carlsson G et al.
Pediatric Blood & Cancer, 2011
Kostmann disease with developmental delay in three patients.
Aytekin C et al.
European Journal of Pediatrics, 2010
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.
Faiyaz-Ul-Haque M et al.
European Journal of Pediatrics, 2010
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
Lanciotti M et al.
Haematologica, 2010
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
Carlsson G et al.
Pediatric Blood & Cancer, 2009
[Neurological findings in severe congenital neutropenia with HAX1 mutations].
Ishikawa N et al.
No to Hattatsu = Brain and Development, 2009
HAX-1: a multifunctional protein with emerging roles in human disease.
Fadeel B et al.
Biochimica Et Biophysica Acta, 2009
Mutation analysis of the HAX1 gene in childhood myelodysplastic syndrome.
Steinemann D et al.
British Journal of Haematology, 2009
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
Smith BN et al.
British Journal of Haematology, 2009
The role of SERCA2a/PLN complex, Ca(2+) homeostasis, and anti-apoptotic proteins in determining cell fate.
Vafiadaki E et al.
Pflugers Archiv : European Journal of Physiology, 2009
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
Ishikawa N et al.
Journal of Medical Genetics, 2008
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
Carlsson G et al.
Journal of Internal Medicine, 2008
Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues.
Lees DM et al.
Journal of Molecular Biology, 2008
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Germeshausen M et al.
Blood, 2008
Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.
Matsubara K et al.
Haematologica, 2007
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.
Carlsson G et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Klein C et al.
Nature Genetics, 2007