Associated Papers
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2026
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
Velez-Tirado N et al.
Scandinavian Journal of Immunology, 2022
Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
López-Rodríguez L et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2022
Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.
Hoffmann D et al.
Gene Therapy, 2020
Mouse models of neutropenia reveal progenitor-stage-specific defects.
Muench DE et al.
Nature, 2020
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Chaturvedi S et al.
Scientifica, 2016
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
Lin SR et al.
Molecular Genetics and Metabolism, 2015
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.
Desplantes C et al.
Orphanet Journal of Rare Diseases, 2014
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency.
Estévez OA et al.
Pediatric Blood & Cancer, 2013
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Banka S et al.
Orphanet Journal of Rare Diseases, 2013
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.
Bégin P et al.
Journal of Clinical Immunology, 2013
Neutropenia in primary immunodeficiency.
Sokolic R
Current Opinion in Hematology, 2013
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Hayee B et al.
Glycobiology, 2011
Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome.
Jun HS et al.
Blood, 2010
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.
McDermott DH et al.
Blood, 2010
Digenic mutations in severe congenital neutropenia.
Germeshausen M et al.
Haematologica, 2010
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
Xia J et al.
British Journal of Haematology, 2009
A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K et al.
The New England Journal of Medicine, 2009