Equilibrativer Nucleosid-Transporter 3
Das SLC29A3-Gen kodiert einen Nucleosid-Transporter. Mutationen führen zu einer autosomal rezessiven Histiozytose mit vielen verschiedenen klinischen Erscheinungsformen, die als H-Syndrom zusammengefasst werden.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Hyde RJ et al. () The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms.
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2. |
Melki I et al. (2013) Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.
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3. |
Campeau PM et. al. (2012) Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
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4. |
Farooq M et. al. (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.
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5. |
Bolze A et. al. (2012) A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.
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6. |
Hsu CL et al. (2012) Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.
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7. |
Jonard L et. al. (2012) Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
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8. |
Avitan-Hersh E et. al. (2011) A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.
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9. |
Spiegel R et. al. () Expanding the clinical spectrum of SLC29A3 gene defects.
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10. |
Kang N et al. (2010) Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.
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11. |
Morgan NV et. al. (2010) Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
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12. |
Molho-Pessach V et. al. (2010) The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
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13. |
Cliffe ST et. al. (2009) SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
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14. |
Hussain K et. al. (2009) Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.
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15. |
de Pontual L et. al. (2008) Rhinoscleroma: a French national retrospective study of epidemiological and clinical features.
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16. |
Molho-Pessach V et. al. (2008) The H syndrome is caused by mutations in the nucleoside transporter hENT3.
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17. |
Prendiville J et. al. () Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?
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18. |
Marina S et. al. () POEMS in childhood.
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19. |
Rossbach HC et. al. (2006) Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness.
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20. |
Kismet E et. al. (2005) Sinus histiocytosis with massive lymphadenopathy in three brothers.
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21. |
Baldwin SA et al. (2005) Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.
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22. |
Moynihan LM et. al. (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.
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Update: 14. August 2020