Associated Papers
ENT3: A lysosomal urate transporter regulating urate disposition and macrophage inflammation.
Matake I et al.
Iscience, 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
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
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
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
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