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
H syndrome: A rare multisystem genodermatosis associated with a novel finding of retinal angioma.
Barathidasan GS et al.
Journal of Paediatrics and Child Health, 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
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
Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome.
Deshpande R et al.
Indian Journal of Pediatrics, 2016
Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.
Al-Haggar M et al.
Pediatric Diabetes, 2015
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
H syndrome with a novel homozygous R134C mutation in SLC29A3 gene.
Mohanan S et al.
International Journal of Dermatology, 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
H syndrome: novel and recurrent mutations in SLC29A3.
Priya TP et al.
The British Journal of Dermatology, 2010
H Syndrome Presenting with Sinus of Valsalva Aneurysm and Possible Founder Mutation (p.Arg134cys) in Indian Patients.
Amalnath D et al.
Indian Journal of Dermatology, 0