Associated Papers
ENT3: A lysosomal urate transporter regulating urate disposition and macrophage inflammation.
Matake I et al.
Iscience, 2025
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation.
Biglari S et al.
Journal of Medical Genetics, 2025
A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.
Rezaie N et al.
Bmc Medical Genomics, 2024
Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population.
Tang X et al.
Genetic Testing and Molecular Biomarkers, 2024
Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.
Ma H et al.
Experimental Cell Research, 2024
The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report.
Alansari S et al.
Journal of Rheumatic Diseases, 2023
H syndrome treated with Tocilizumab: two case reports and literature review.
Jacquot R et al.
Frontiers in Immunology, 2023
Rosai-Dorfman Disease between Proliferation and Neoplasia.
Elbaz Younes I et al.
Cancers, 2022
Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder.
Besci Ö et al.
Hormones (athens, Greece), 2022
Hearing loss in Africa: current genetic profile.
Adadey SM et al.
Human Genetics, 2022
Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.
Chouk H et al.
Human Genomics, 2021
Adult stem cell deficits drive Slc29a3 disorders in mice.
Nair S et al.
Nature Communications, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
H syndrome: Clinical, histological and genetic investigation in Tunisian patients.
Jaouadi H et al.
The Journal of Dermatology, 2018
Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.
Al-Haggar M et al.
Pediatric Diabetes, 2015
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
Elbarbary NS et al.
Pediatric Diabetes, 2013
SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.
de Jesus J et al.
Diabetes & Metabolism, 2013
Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.
Melki I et al.
Pediatrics, 2013
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Campeau PM et al.
Human Molecular Genetics, 2012
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
Jonard L et al.
European Journal of Medical Genetics, 2012
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.
Bolze A et al.
Plos One, 2012
Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.
Farooq M et al.
Dermatology (basel, Switzerland), 2012
The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
Molho-Pessach V et al.
Journal of Dermatological Science, 2010
H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.
Hamad A et al.
Hematology/oncology and Stem Cell Therapy, 0