PedAM
Pediatric Disease Annotations & Medicines
| Disease | diabetes mellitus, insulin-dependent |
| Phenotype | C0037274|dermatosis |
| Sentences | 3 |
| PubMedID- 26163994 | Equilibrative nucleoside transporter 3 depletion in beta-cells impairs mitochondrial function and promotes apoptosis: relationship to pigmented hypertrichotic dermatosis with insulin-dependent diabetes. |
| PubMedID- 22989030 | The slc29a3 gene, encoding hent3, a member of the equilibrative nucleoside transporter family, has recently been found mutated in faisalabad histiocytosis, pigmented hypertrichotic dermatosis with insulin-dependent diabetes, familial sinus histiocytosis with massive lymphadenopathy (shml), and h syndromes. |
| PubMedID- 20595384 | In addition to transport alterations, we provide evidence for possible loss of hent3 functions in all h and pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndromes due to either mistrafficking or altered stability of mutant hent3 proteins. |
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