Associated Papers
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
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
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
Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease.
Lara-Reyna S et al.
Journal of Clinical Immunology, 2021
A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.
Noavar S et al.
Bmc Medical Genetics, 2019
Adult stem cell deficits drive Slc29a3 disorders in mice.
Nair S et al.
Nature Communications, 2019
H syndrome: Clinical, histological and genetic investigation in Tunisian patients.
Jaouadi H et al.
The Journal of Dermatology, 2018
A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies.
Mistry A et al.
Journal of Clinical Immunology, 2016
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
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
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
Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.
Bakhchane A et al.
Current Research in Translational 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