Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

26 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.
Benavides-Nieto M, Adam F, Martin E, Boussard C, Lagresle-Peyrou C, Callebaut I, Kauskot A, Repérant C, Feng M, Bordet JC, Castelle M, Morelle G, Brouzes C, Zarhrate M, Panikulam P, Lambert N, Picard C, Bodet D, Rouger-Gaudichon J, Revy P, de Villartay JP, Moshous D. Benavides-Nieto M, et al. Among authors: reperant c. J Clin Invest. 2024 Jul 11;134(17):e169994. doi: 10.1172/JCI169994. J Clin Invest. 2024. PMID: 39225097 Free PMC article.
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Kauskot A, Mallebranche C, Bruneel A, Fenaille F, Solarz J, Viellard T, Feng M, Repérant C, Bordet JC, Cholet S, Denis CV, McCluskey G, Latour S, Martin E, Pellier I, Lasne D, Borgel D, Kracker S, Ziegler A, Tuffigo M, Fournier B, Miot C, Adam F. Kauskot A, et al. Among authors: reperant c. J Thromb Haemost. 2023 Nov;21(11):3268-3278. doi: 10.1016/j.jtha.2023.05.007. Epub 2023 May 18. J Thromb Haemost. 2023. PMID: 37207862 Free article.
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. Boussard C, et al. Among authors: reperant c. Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. Blood. 2023. PMID: 36952639 Free article.
Platelet Functions are Decreased in Obesity and Restored after Weight Loss: Evidence for a Role of the SERCA3-Dependent ADP Secretion Pathway.
Elaïb Z, Lopez JJ, Coupaye M, Zuber K, Becker Y, Kondratieff A, Repérant C, Pépin M, Salomon L, Teillet F, Msika S, Denis CV, de Prost D, Rosa JP, Bobe R, Stépanian A. Elaïb Z, et al. Among authors: reperant c. Thromb Haemost. 2019 Mar;119(3):384-396. doi: 10.1055/s-0038-1677033. Epub 2019 Jan 16. Thromb Haemost. 2019. PMID: 30650444 Clinical Trial.
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.
Kauskot A, Pascreau T, Adam F, Bruneel A, Reperant C, Lourenco-Rodrigues MD, Rosa JP, Petermann R, Maurey H, Auditeau C, Lasne D, Denis CV, Bryckaert M, de Lonlay P, Lavenu-Bombled C, Melki J, Borgel D. Kauskot A, et al. Among authors: reperant c. Haematologica. 2018 Dec;103(12):e613-e617. doi: 10.3324/haematol.2018.198028. Epub 2018 Aug 16. Haematologica. 2018. PMID: 30115659 Free PMC article. No abstract available.
26 results