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
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series.
Jacobs A et al.
Hormone Research in Paediatrics, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 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
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
Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.
Nadyrshina DD et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.
Turan S
Bone, 2023
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
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.
Turan S et al.
Jbmr Plus, 2022
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.
Uludağ Alkaya D et al.
American Journal of Medical Genetics. Part A, 2021
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY et al.
The Lancet Regional Health. Western Pacific, 2020
Adult stem cell deficits drive Slc29a3 disorders in mice.
Nair S et al.
Nature Communications, 2019
A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome.
Riachi M et al.
Pediatric Diabetes, 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
The human concentrative and equilibrative nucleoside transporter families, SLC28 and SLC29.
Young JD et al.
Molecular Aspects of Medicine, 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