ArticleBlood2015
Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization.
Article in Blood, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 55 citations in OpenAlex.
- Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Review
- Extracellular Adenosine Contributes to the Hydrogen Peroxide-Induced Calcification of Cultured Tendon Cells.Current issues in molecular biology · 2026Article
- A new perspective on intervertebral disc calcification-from bench to bedside.Bone research · 2024Review
- Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.Current osteoporosis reports · 2023Review
- How Cryo-EM Has Expanded Our Understanding of Membrane Transporters.Drug metabolism and disposition: the biological fate of chemicals · 2023Review
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.EMBO molecular medicine · 2023Article
- Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes (International journal of molecular sciences · 2022Review
- Glycoproteomic and Phenotypic Elucidation ofInternational journal of molecular sciences · 2022Article
- Augustine Blood Group System and Equilibrative Nucleoside Transporter 1.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2022Review
- Ectopic mineralisation of the mandibular symphysis inBone reports · 2021Article
- Article
- Diffuse Idiopathic Skeletal Hyperostosis of Cervical Spine with Dysphagia-Molecular and Clinical Aspects.International journal of molecular sciences · 2021Review
- Pharmacogenomics with red cells: a model to study protein variants of drug transporter genes.Vox sanguinis · 2021Review
- GATA factor-regulated solute carrier ensemble reveals a nucleoside transporter-dependent differentiation mechanism.PLoS genetics · 2020Article
- Article
- International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology: Report of the Dubai, Copenhagen and Toronto meetings.Vox sanguinis · 2019Article
- Article
- Basic calcium phosphate crystal-associated musculoskeletal syndromes: an update.Current opinion in rheumatology · 2018Review
- Label-Free Neuroproteomics of the Hippocampal-Accumbal Circuit Reveals Deficits in Neurotransmitter and Neuropeptide Signaling in Mice Lacking Ethanol-Sensitive Adenosine Transporter.Journal of proteome research · 2017Article
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Authors and funding
11 authors at 4 institutions in 4 countries.
Funding
Abstract
The Augustine-negative alias At(a-) blood type, which seems to be restricted to people of African ancestry, was identified half a century ago but remains one of the last blood types with no known genetic basis. Here we report that a nonsynonymous single nucleotide polymorphism in SLC29A1 (rs45458701) is responsible for the At(a-) blood type. The resulting p.Glu391Lys variation in the last extracellular loop of the equilibrative nucleoside transporter 1 (ENT1; also called SLC29a1) is known not to alter its ability to transport nucleosides and nucleoside analog drugs. Furthermore, we identified 3 individuals of European ancestry who are homozygous for a null mutation in SLC29A1 (c.589+1G>C) and thus have the Augustine-null blood type. These individuals lacking ENT1 exhibit periarticular and ectopic mineralization, which confirms an important role for ENT1/SLC29A1 in human bone homeostasis as recently suggested by the skeletal phenotype of aging Slc29a1(-/-) mice. Our results establish Augustine as a new blood group system and place SLC29A1 as a new candidate gene for idiopathic disorders characterized with ectopic calcification/mineralization.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.