SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

Neil V. Morgan, Mark R. Morris, Hakan Cangül et al. · PLoS Genetics · 2010 · 225 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Genomewide Scan for Type 1–Diabetes Susceptibility in Scandinavian Families: Identification of New Loci with Evidence of Interactions

The American Journal of Human Genetics · 2001 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3

Rajgopal Govindarajan, Mingyan Zhou, Chung‐Ming Tse et al. · American Journal of Physiology-Gastrointestinal and Liver Physiology · 2009 · 139 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations

Vered Molho‐Pessach, Ziad Agha, Suhail Aamar et al. · Journal of the American Academy of Dermatology · 2008 · 138 citations

Medicine, Dermatology, Pathology +11

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain et al. · Human Molecular Genetics · 2009 · 118 citations

Life Sciences, Genetics, Molecular Genetics +17