Associated Papers
ENT3: A lysosomal urate transporter regulating urate disposition and macrophage inflammation.
Matake I et al.
Iscience, 2025
Allogeneic hematopoietic cell transplantation rescues congenital red cell aplasia in H syndrome due to SLC29A3 mutations.
Quigg TC et al.
Haematologica, 2025
A rare case of H syndrome with severe multisystem involvement: Clinical challenges in low-resource healthcare settings.
Qatza A et al.
The Journal of International Medical Research, 2025
SLC29A3 Gene Spectrum Disorders in Two Siblings.
Srivastava C et al.
Indian Journal of Pediatrics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study.
Tesser A et al.
Pediatric Rheumatology Online Journal, 2024
Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.
Ma H et al.
Experimental Cell Research, 2024
H syndrome treated with Tocilizumab: two case reports and literature review.
Jacquot R et al.
Frontiers in Immunology, 2023
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
Autoimmune hepatitis in genetic syndromes: A literature review.
Capra AP et al.
World Journal of Hepatology, 2021
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
H syndrome: 5 new cases from the United States with novel features and responses to therapy.
Bloom JL et al.
Pediatric Rheumatology Online Journal, 2017
Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.
Liu JW et al.
Chinese Medical Journal, 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
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
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: First reported paediatric case in Latin America].
Abarca Barriga HH et al.
Revista Chilena De Pediatria, 0
H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.
Hamad A et al.
Hematology/oncology and Stem Cell Therapy, 0