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
Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.
Ma H et al.
Experimental Cell Research, 2024
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3 Mutation.
Blatt J et al.
Journal of Pediatric Hematology/oncology, 2021
'H-syndrome': a multisystem genetic disorder with cutaneous clues.
Mori KS et al.
Bmj Case Reports, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Adult stem cell deficits drive Slc29a3 disorders in mice.
Nair S et al.
Nature Communications, 2019
Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.
Vural S et al.
Cytogenetic and Genome Research, 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
Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.
Huber-Ruano I et al.
Biochemical and Biophysical Research Communications, 2012
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
Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.
Kang N et al.
The Journal of Biological Chemistry, 2010
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
Morgan NV et al.
Plos Genetics, 2010
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Cliffe ST et al.
Human Molecular Genetics, 2009
H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.
Hamad A et al.
Hematology/oncology and Stem Cell Therapy, 0