Hereditary stomatocytosis and Rh-deficient patients exhibit distinct molecular defects [letter]

Autor: P Bailly, JP Cartron, D Wang, RM Johnson

Publikováno v: Blood. 80:1624-1626

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2a677be24dd11293abb56dff0cdb5407
https://doi.org/10.1182/blood.v80.6.1624.bloodjournal8061624

Molecular biology of the Rh antigens

Autor: JP Cartron, Peter Agre

Publikováno v: Blood. 78(3)

The RBC Rh antigens are of large clinical importance, but until recently have been poorly understood at a molecular level. The Rh polypeptides are a family of nonglycosylated Mr 30- to 32-Kd transmembrane proteins that are core structural components

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4704bcc3cb689744c78aa0ae2088554b
https://pubmed.ncbi.nlm.nih.gov/1907207

H-deficient blood groups of Reunion Island. III. alpha-2-L-fucosyltransferase activity in sera of homozygous and heterozygous individuals

Autor: Le Pendu J, Clamagirand-Mulet C, Jp, Cartron, Gerard G, Didier Vitrac, Oriol R

Publikováno v: Europe PubMed Central

Small amounts of H-enzyme activity (from 500 to 1,280 counts per minute [cpm]) were detected in sera of white H-deficient individuals (h/h; Reunion phenotype), while no significant H activity (less than 500 cpm) could be detected in sera of Indian H-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::756b512721188e9077f8ea04322a56dc
https://europepmc.org/articles/PMC1685657/

Characterization of the recombination hot spot involved in the genomic rearrangement leading to the hybrid D-CE-D gene in the D(VI) phenotype

Autor: Matassi G, Baya Chérif-Zahar, Mouro I, Jp, Cartron

Publikováno v: Europe PubMed Central

In the Caucasian population, the RH locus of RhD-positive individuals is composed of two homologous genes, RHD and RHCE, arranged in tandem but of a single gene, RHCE, in RhD-negative individuals. Many variants recently characterized carry rearranged

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::12050b7bdeb7a71c5ee0f287f625fdd0
http://europepmc.org/abstract/med/9106526

Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.

Autor: Koehl B; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France.; Department of Child Hematology, Reference Center for Sickle-Cell Disease Robert Debré University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Vrignaud C; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France., Mikdar M; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France., Nair TS; Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, USA., Yang L; Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, USA., Landry S; Hemostasis Laboratory, Grenoble Alpes University Hospital Grenoble, Grenoble, France., Laiguillon G; Établissement Français de Sang (EFS) Ile-de-France, Centre National de Référence pour les Groupes Sanguins, Paris, France., Giroux-Lathuile C; Etablissement Français du Sang Auvergne Rhône Alpes, Immunohematology Laboratory, Grenoble, France., Anselme-Martin S; Etablissement Français du Sang Auvergne Rhône Alpes, Immunohematology Laboratory, Grenoble, France., El Kenz H; Department of Transfusion, Blood Bank, CHU-Brugmann and Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium., Hermine O; Université de Paris, Imagine Institute, INSERM UMR 1163, Paris, France., Mohandas N; Red Cell Physiology Laboratory, New York Blood Center, New York, NY, USA., Cartron JP; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France., Colin Y; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France., Detante O; Stroke Unit, Neurology Department, Grenoble Hospital, Grenoble Institute of Neurosciences, Inserm U1216, University of Grenoble Alpes, Grenoble, France., Marlu R; Hemostasis Laboratory, Grenoble Alpes University Hospital Grenoble, Grenoble, France.; University Grenoble Alpes, CNRS UMR5525, TIMC, Grenoble, France., Le Van Kim C; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France., Carey TE; Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, USA., Azouzi S; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France.; Établissement Français de Sang (EFS) Ile-de-France, Centre National de Référence pour les Groupes Sanguins, Paris, France., Peyrard T; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France.; Établissement Français de Sang (EFS) Ile-de-France, Centre National de Référence pour les Groupes Sanguins, Paris, France.

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2023 Mar 08; Vol. 15 (3), pp. e16320. Date of Electronic Publication: 2023 Jan 25.