Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens

Autor: Vanja Karamatic Crew, Louise A. Tilley, Timothy J. Satchwell, Samah A. AlSubhi, Benjamin Jones, Frances A. Spring, Piers J. Walser, Catarina Martins Freire, Nicoletta Murciano, Maria Giustina Rotordam, Svenja J. Woestmann, Marwa Hamed, Reem Alradwan, Mouza AlKhrousey, Ian Skidmore, Sarah Lewis, Shimon Hussain, Jane Jackson, Tom Latham, Mark D. Kilby, William Lester, Nadine Becker, Markus Rapedius, Ashley M. Toye, Nicole M. Thornton

Publikováno v: Karamatic Crew, V, Tilley, L A, Satchwell, T, Alsubhi, S A O, Toye, A M & Thornton, N M 2023, ' Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens ', Blood, vol. 141, no. 2, pp. 135-146 . https://doi.org/10.1182/blood.2022016504

Despite the identification of the high-incidence red cell antigen Era nearly 40 years ago, the molecular background of this antigen, together with the other 2 members of the Er blood group collection, has yet to be elucidated. Whole exome and Sanger

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19f3e0486bd0446b7520977b7df82c7c
https://doi.org/10.1182/blood.2022016504

Disruption of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype

Autor: Beate Mayer, Vanja Karamatic Crew, Louise Tilley, Richard Charlewood, Chwen Ling Tay, Vered Yahalom, D J Anstee, Belinda K. Singleton, Abdul Ghani Alattar, Ute Feick, Axel Seltsam, Nicole Thornton, Jill R. Storry, C A Green, Frances A. Spring, Benjamin Jones, Rebecca E. Griffiths, Rosalind Laundy, Piers Walser, Connie M. Westhoff, Mattias Möller, Christine Lomas-Francis, Lorna Wall, Martin L. Olsson

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Nature Communications

The clinically important MAM blood group antigen is present on haematopoietic cells of all humans except rare MAM-negative individuals. Its molecular basis is unknown. By whole-exome sequencing we identify EMP3, encoding epithelial membrane protein 3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a4ccac09c8e060f2829dbf36452cfd
http://link.springer.com/article/10.1038/s41467-020-17060-4

Two missense mutations in the CD44 gene encode two new antigens of the Indian blood group system

Autor: Louise Tilley, Diane Armstrong, Joyce Poole, Frances A. Spring, M. A. M. Overbeeke, Nicole Warke, Norbert Ahrens, Geoff Daniels, José A C M van der Mark-Zoet, Mark Williams

Publikováno v: Transfusion. 47:1306-1311

BACKGROUND: Blood samples were referred over a 10-year period from five patients whose serum samples contained antibodies to unidentified high-incidence antigens. Three patients (A, B, C) were of Moroccan origin and their antibodies and red blood cel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b3715180e4eda44991ae348d550c07
https://doi.org/10.1111/j.1537-2995.2007.01275.x

The effects of leukodepletion on the generation and removal of microvesicles and prion protein in blood components

Autor: Ian MacGregor, Robin J Prescott, David Anstee, Rachel Perrin, Olive Drummond, Frances A. Spring, Jerard Seghatchian, Lorna Williamson, Chris Prowse, Pranee Krailadsiri, Marc Turner

Publikováno v: Transfusion. 46:407-417

BACKGROUND: Universal leukodepletion (LD) has been implemented in the United Kingdom to reduce the risk of transfusion-transmitted variant Creutzfeldt-Jakob disease. If LD causes microvesiculation of blood cells, however, potentially infectious membr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9308f45efab818b57c983f2c78117182
https://doi.org/10.1111/j.1537-2995.2006.00737.x

Monoclonal antibodies recognizing epitopes on the extracellular face and intracellular N-terminus of the human erythrocyte anion transporter (band 3) and their application to the analysis of South East Asian ovalocytes

Autor: David J. Anstee, Jonathan S. Smythe, Philip A. Judson, Brigitte Gardner, Frances A. Spring, Stephen Parsons

Publikováno v: Blood. 85:2929-2936

This report describes the production and characterization of 13 rodent monoclonal antibodies to the human erythrocyte anion transport protein AE1 (syn. band 3). Eleven antibodies (4 murine and 7 rat) recognize epitopes dependent on the integrity of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d85cceac2432df6ad7e914c5cd17cacd
https://doi.org/10.1182/blood.v85.10.2929.bloodjournal85102929