Expanding the clinical spectrum of SLC29A3 gene defects

Functional Characterization of Novel Human and Mouse Equilibrative Nucleoside Transporters (hENT3 and mENT3) Located in Intracellular Membranes

Stephen A. Baldwin, Sylvia Y.M. Yao, Ralph J. Hyde et al. · Journal of Biological Chemistry · 2005 · 322 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

Vered Molho‐Pessach, Dvorah Abeliovich, Ziad Agha et al. · The American Journal of Human Genetics · 2008 · 205 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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