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

Missense mutations in PIEZO1, encoding the Piezo1 mechanosensor protein, define the 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 Arthur, Lester, Nadine, Becker, Markus, Rapedius, Ashley Mark, Toye, Nicole M, Thornton

Publikováno v: Blood.

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 two members of the Er blood group collection, has yet to be elucidated. Whole exome and Sange

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b036b74bd6c9bf70af8f8d8979805ff2
https://pubmed.ncbi.nlm.nih.gov/36122374

The United Kingdom national rare donor panel

Autor: Nicole M, Thornton

Publikováno v: Immunohematology. 32(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3bff38c4754e21d4d8861a08b142f092
https://pubmed.ncbi.nlm.nih.gov/27901572

Deletions in the MAL gene result in loss of Mal protein, defining the rare inherited AnWj-negative blood group phenotype

Autor: Tilley, Louise A., Karamatic Crew, Vanja, Mankelow, Tosti J., AlSubhi, Samah A., Jones, Benjamin, Borowski, Abigail, Yahalom, Vered, Finkel, Lilach, Singleton, Belinda K., Walser, Piers J., Toye, Ashley M., Satchwell, Timothy J., Thornton, Nicole M.

Publikováno v: In Blood July 2024