Highly impaired platelet ultrastructure in two families with novel IKZF5 variants

Autor: Eva Leinoe, Mimi Kjaersgaard, Eva Zetterberg, Sisse Ostrowski, Andreas Greinacher, Maria Rossing

Publikováno v: Platelets, Vol 32, Iss 4, Pp 492-497 (2021)

Heterozygous variants in the IKZF5 gene, encoding transcription factor Pegasus, were recently discovered to be causal of inherited thrombocytopenia (IT). We screened 90 patients suspected of inherited thrombocytopenia for variants in 101 genes associ

Externí odkaz: https://doaj.org/article/2fed919364b24c9badf84fe224ccc7f8

Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding

Autor: Marcus Fager Ferrari, Eva Leinoe, Maria Rossing, Eva Norström, Karin Strandberg, Tobias Steen Sejersen, Klaus Qvortrup, Eva Zetterberg

Publikováno v: Platelets, Vol 29, Iss 1, Pp 56-64 (2018)

Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion in cytotoxic lymphocytes. In FHL3–5, the affected genes UNC13D, STX11 and STXBP2 have further been shown to regulate the secreti

Externí odkaz: https://doaj.org/article/b72b05524e6749139957524667687d68

Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617]

Autor: Karyn Megy, Kate Downes, Marie-Christine Morel-Kopp, José M. Bastida, Shannon Brooks, Loredana Bury, Eva Leinoe, Keith Gomez, Neil V. Morgan, Maha Othman, Willem H. Ouwehand, Juliana Perez Botero, José Rivera, Harald Schulze, David-Alexandre Trégouët, Kathleen Freson

Publikováno v: Journal of Thrombosis and Haemostasis. 21:1067

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d91d15e39f2737cf87ae99db7f6aee92
https://doi.org/10.1016/j.jtha.2023.01.021

A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency

Autor: Nanna Brøns, Sisse R. Ostrowski, Andreas Greinacher, Carlo Zaninetti, Maria Rossing, Jesper Petersen, Eva Leinoe

Publikováno v: Platelets. 32:701-704

Genetic variants in growth factor-independent 1B (GFI1B), encoding transcription factor GFI1B, are causative of platelet-type bleeding disorder-17. Presently, 53 cases of GFI1B associated inherited thrombocytopenia (IT) have been published, however o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7ff5b1d4e44442f995f63c84a3f50f6c
https://doi.org/10.1080/09537104.2020.1786041

Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE

Autor: Myriam Martin, Karolina I. Smolag, Marcus Fager Ferrari, Eva Leinoe, Anna M. Blom, Eva Zetterberg, Maria Rossing, Torben Ek

Publikováno v: Frontiers in Immunology
Smolag, K I, Fager Ferrari, M, Zetterberg, E, Leinoe, E, Ek, T, Blom, A M, Rossing, M & Martin, M 2021, ' Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE ', Frontiers in Immunology, vol. 12, 777402 . https://doi.org/10.3389/fimmu.2021.777402
Frontiers in Immunology, Vol 12 (2021)

BackgroundHereditary thrombocytopenias constitute a genetically heterogeneous cause of increased bleeding. We report a case of a 17-year-old boy suffering from severe macrothrombocytopenia throughout his life. Whole genome sequencing revealed the pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23a8fd415de102fa691d445407abbc96
https://doi.org/10.3389/fimmu.2021.777402