Associated Papers
ENT3: A lysosomal urate transporter regulating urate disposition and macrophage inflammation.
Matake I et al.
Iscience, 2025
The lysosomal carrier SLC29A3 supports antibacterial signaling, and promotes autophagy by activating TRPML1 in murine dendritic cells.
Netting DJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
A rare case of H syndrome with severe multisystem involvement: Clinical challenges in low-resource healthcare settings.
Qatza A et al.
The Journal of International Medical Research, 2025
Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity.
Crickx E et al.
American Journal of Hematology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The lysosomal carrier SLC29A3 supports anti-bacterial signaling and promotes autophagy by activating TRPML1 in mouse dendritic cells.
Netting DJ et al.
Biorxiv : the Preprint Server for Biology, 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
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case Report.
Banks SA et al.
Neurology. Genetics, 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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.
Ma H et al.
Experimental Cell Research, 2024
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P et al.
Diabetologia, 2023
H syndrome treated with Tocilizumab: two case reports and literature review.
Jacquot R et al.
Frontiers in Immunology, 2023
Rosai-Dorfman Disease between Proliferation and Neoplasia.
Elbaz Younes I et al.
Cancers, 2022
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
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
H syndrome: A review of treatment options and a hypothesis of phenotypic variability.
Nofal H et al.
Dermatologic Therapy, 2021
RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.
Adnan Awad S et al.
Leukemia, 2021
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2021
Inherited disorders of lysosomal membrane transporters.
Huizing M et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation.
Behrangi E et al.
Dermatologic Therapy, 2020
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature.
El-Bassyouni HT et al.
Journal of Pediatric Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Adult stem cell deficits drive Slc29a3 disorders in mice.
Nair S et al.
Nature Communications, 2019
Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.
Simsek E et al.
Hormone Research in Paediatrics, 2019
H syndrome: 5 new cases from the United States with novel features and responses to therapy.
Bloom JL et al.
Pediatric Rheumatology Online Journal, 2017
Inhibition of Transient Receptor Potential Channel Mucolipin-1 (TRPML1) by Lysosomal Adenosine Involved in Severe Combined Immunodeficiency Diseases.
Zhong XZ et al.
The Journal of Biological Chemistry, 2017
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
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
Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue.
Molho-Pessach V et al.
Ophthalmic Genetics, 2015
H syndrome: the first 79 patients.
Molho-Pessach V et al.
Journal of the American Academy of Dermatology, 2014
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
Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease.
Colmenero I et al.
The American Journal of Dermatopathology, 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
Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
Ramot Y et al.
International Journal of Pediatric Otorhinolaryngology, 2010
H syndrome: novel and recurrent mutations in SLC29A3.
Priya TP et al.
The British Journal of Dermatology, 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