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
H syndrome with bilateral choroidal osteoma: Coincidence or association?
Sariyeva Ismayilov A et al.
European Journal of Ophthalmology, 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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 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
A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome.
Arik E et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2023
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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 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 Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
Adult stem cell deficits drive Slc29a3 disorders in mice.
Nair S et al.
Nature Communications, 2019
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
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
H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.
Hamad A et al.
Hematology/oncology and Stem Cell Therapy, 0