Associated Papers
Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation.
Mou Z et al.
Biorxiv : the Preprint Server for Biology, 2026
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
Gahr S et al.
Experimental Cell Research, 2023
Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy.
Buonocore F et al.
F1000research, 2023
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Suntharalingham JP et al.
Frontiers in Endocrinology, 2022
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F et al.
Journal of the Endocrine Society, 2021
Advances in germline predisposition to acute leukaemias and myeloid neoplasms.
Klco JM et al.
Nature Reviews. Cancer, 2021
Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Yoshida M et al.
British Journal of Haematology, 2020
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.
Davidsson J et al.
Leukemia, 2018
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.
Shima H et al.
Journal of Medical Genetics, 2018
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Jeffries L et al.
American Journal of Medical Genetics. Part A, 2018
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.
Shima H et al.
Plos One, 2018
The complex domain architecture of SAMD9 family proteins, predicted STAND-like NTPases, suggests new links to inflammation and apoptosis.
Mekhedov SL et al.
Biology Direct, 2017
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Buonocore F et al.
The Journal of Clinical Investigation, 2017
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi S et al.
Nature Genetics, 2016
A Case of MIRAGE Syndrome with SAMD9 Mutation and Refractory Infantile Diarrhea: Endoscopic Biopsy Evaluation via Light and Electron Microscopy.
Bove KE et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0