Brief Report TRANSFUSION MEDICINE Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization

نویسندگان

  • Geoff Daniels
  • Bryan A. Ballif
  • Virginie Helias
  • Carole Saison
  • Shane Grimsley
  • Lucienne Mannessier
  • Hein Hustinx
  • Edmond Lee
  • Jean-Pierre Cartron
  • Thierry Peyrard
  • Lionel Arnaud
چکیده

International Blood Group Reference Laboratory, National Health Service Blood and Transplant, Bristol, United Kingdom; Department of Biology, University of Vermont, Burlington, VT; Institut National de la Transfusion Sanguine, Paris, France; Centre Régional de Transfusion Sanguine de Lille, Lille, France; Blood Transfusion Service, Swiss Red Cross, Berne, Switzerland; Red Cell Immunohaematology Laboratory of Colindale, London, United Kingdom; and Institut National de la Transfusion Sanguine, Département Centre National de Référence pour les Groupes Sanguins, Paris, France

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Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization.

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 extra...

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Equilibrative nucleoside transporter 1 plays an essential role in cardioprotection.

To better understand the role of equilibrative nucleoside transporters (ENT) in purine nucleoside-dependent physiology of the cardiovascular system, we investigated whether the ENT1-null mouse heart was cardioprotected in response to ischemia (coronary occlusion for 30 min followed by reperfusion for 2 h). We observed that ENT1-null mouse hearts showed significantly less myocardial infarction c...

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Type 1 equilibrative nucleoside transporter regulates astrocyte-specific glial fibrillary acidic protein expression in the striatum

BACKGROUND Adenosine signaling has been implicated in several neurological and psychiatric disorders. Previously, we found that astrocytic excitatory amino acid transporter 2 (EAAT2) and aquaporin 4 (AQP4) are downregulated in the striatum of mice lacking type 1 equilibrative nucleoside transporter (ENT1). METHODS To further investigate the gene expression profile in the striatum, we preforme...

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Aberrant Bone Density in Aging Mice Lacking the Adenosine Transporter ENT1

Adenosine is known to regulate bone production and resorption in humans and mice. Type 1 equilibrative nucleoside transporter (ENT1) is responsible for the majority of adenosine transport across the plasma membrane and is ubiquitously expressed in both humans and mice. However, the contribution of ENT1-mediated adenosine levels has not been studied in bone remodeling. With the recent identifica...

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Identification of First Patient with Rh null Phenotype in Southeast Iran

Background and Aims: Rhnull, with an estimated incidence of one per 6,000,000 individuals, is an extremely rare disorder with an autosomal recessive pattern of inheritance that is more common in societies with a high rate of consanguinity. Materials and Methods: In this study, we report the first case with Rhnull, a blood group phenotype in southeast Iran, which was diagnosed during pretransf...

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تاریخ انتشار 2015