The H syndrome: A genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin with systemic manifestations
Molho-Pessach V, Agha Z, Aamar S, et al. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol. 2008;59:79-85.
The H syndrome is caused by mutations in the nucleoside transporter hENT3
Molho-Pessach V, Lerer I, Abeliovich D, et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet. 2008;83:529-534.
H syndrome: Recently defined genodermatosis with distinct histologic features a morphological histochemical immunohistochemical and ultrastructural study of 10 cases
Doviner V, Maly A, Neeman Z, et al. H syndrome: recently defined genodermatosis with distinct histologic features. A morphological, histochemical, immunohistochemical, and ultrastructural study of 10 cases. Am J Dermatopathol. 2010;32:118-128.
The H syndrome: Two novel mutations affecting the same amino acid residue of hENT3
Molho-Pessach V, Suarez J, Christopher P, et al. The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. J Dermatol Sci. 2010;57:59-61.
Pigmented hypertrichotic dermatosis and insulin dependent diabetes: Manifestation of a unique genetic disorder
Prendiville J, Rogers M, Kan A, et al. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestation of a unique genetic disorder? Pediatr Dermatol. 2007;24:101-107.
The role of mitochondrial and plasma membrane nucleoside transporters in drug toxicity
Leung GP, Tse CM. The role of mitochondrial and plasma membrane nucleoside transporters in drug toxicity. Expert Opin Drug Metab Toxicol. 2007;18:705-718.
Macrophages require different nucleoside transport systems for proliferation and activation
Soler C, Garcia-Manteiga J, Valdes R, et al. Macrophages require different nucleoside transport systems for proliferation and activation. FASEB J. 2001;15:1979-1988.
Interferon-gamma regulates nucleoside transport systems in macrophages through signal transduction and activator of transduction factor 1 STAT 1-dependent and independent signaling pathways
Soler c, Felipe A, Garcia-Manteiga J, et al. Interferon-gamma regulates nucleoside transport systems in macrophages through signal transduction and activator of transduction factor 1 (STAT 1)-dependent and independent signaling pathways. Biochem J. 2003;375:777-783.
Expression and functionality of antihuman immunodeficiency virus and anticancer drug uptake transporters in immune cells
Minuesa G, Purcet S, Erkizia I, et al. Expression and functionality of antihuman immunodeficiency virus and anticancer drug uptake transporters in immune cells. J Pharmacol Exp Ther. 2008;324: 558-567.
Mutations in SLC29A3 encoding an equilibrative nucleoside transporter ENT3 cause a familial histiocytosis syndrome faisalabad histiocytosis and familial rosai- dorfman disease
Morgan NV, Morris MR, Cangul H, et al. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai- Dorfman disease. PLoS Genetics. 2010;6:1-9.