Jean-Pierre de Villartay
Overview
Explore the profile of Jean-Pierre de Villartay including associated specialties, affiliations and a list of published articles.
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116
Citations
3792
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Recent Articles
1.
Chbihi M, Nabhan L, Pinton A, Drabent P, de Villartay J, Neven B
J Clin Immunol
. 2024 Sep;
45(1):5.
PMID: 39264509
No abstract available.
2.
Benavides-Nieto M, Adam F, Martin E, Boussard C, Lagresle-Peyrou C, Callebaut I, et al.
J Clin Invest
. 2024 Sep;
134(17).
PMID: 39225097
The ubiquitously expressed small GTPase Ras-related protein 1B (RAP1B) acts as a molecular switch that regulates cell signaling, cytoskeletal remodeling, and cell trafficking and activates integrins in platelets and lymphocytes....
3.
Adelon J, Abolhassani H, Esenboga S, Fouyssac F, Cagdas D, Tezcan I, et al.
J Allergy Clin Immunol
. 2024 Jul;
154(5):1300-1312.
PMID: 38977084
Background: DNA-dependent protein kinase catalytic subunit (DNA-PKcs) has an essential role in the non-homologous end-joining pathway that repairs DNA double-strand breaks in V(D)J recombination involved in the expression of T-...
4.
Petrova E, Lopez-Gay J, Fahrner M, Leturcq F, de Villartay J, Barbieux C, et al.
Commun Biol
. 2024 Feb;
7(1):152.
PMID: 38316920
Netherton syndrome (NS) is a rare skin disease caused by loss-of-function mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) gene. Disease severity and the lack of efficacious treatments...
5.
Bertrand A, Ba I, Kermasson L, Pirabakaran V, Chable N, Lainey E, et al.
Hum Mol Genet
. 2024 Jan;
33(7):612-623.
PMID: 38176734
Telomeres are nucleoprotein structures that protect the chromosome ends from degradation and fusion. Telomerase is a ribonucleoprotein complex essential to maintain the length of telomeres. Germline defects that lead to...
6.
Bery A, Etienne O, Mouton L, Mokrani S, Granotier-Beckers C, Gauthier L, et al.
Cell Rep
. 2023 Apr;
42(4):112342.
PMID: 37027298
XLF/Cernunnos is a component of the ligation complex used in classical non-homologous end-joining (cNHEJ), a major DNA double-strand break (DSB) repair pathway. We report neurodevelopmental delays and significant behavioral alterations...
7.
Jauch A, Bignucolo O, Seki S, Ghraichy M, Delmonte O, von Niederhausern V, et al.
J Allergy Clin Immunol
. 2023 Apr;
152(2):500-516.
PMID: 37004747
Background: Biallelic mutations in LIG4 encoding DNA-ligase 4 cause a rare immunodeficiency syndrome manifesting as infant-onset life-threatening and/or opportunistic infections, skeletal malformations, radiosensitivity and neoplasia. LIG4 is pivotal during DNA...
8.
Antoniou P, Hardouin G, Martinucci P, Frati G, Felix T, Chalumeau A, et al.
Nat Commun
. 2022 Nov;
13(1):6618.
PMID: 36333351
Sickle cell disease and β-thalassemia affect the production of the adult β-hemoglobin chain. The clinical severity is lessened by mutations that cause fetal γ-globin expression in adult life (i.e., the...
9.
Allain V, Grandin V, Meignin V, Bertinchamp R, Boutboul D, Fieschi C, et al.
J Clin Immunol
. 2022 Sep;
43(1):181-191.
PMID: 36155879
Purpose: Hypogammaglobulinemia in a context of lymphoma is usually considered as secondary and prior lymphoma remains an exclusion criterion for a common variable immunodeficiency (CVID) diagnosis. We hypothesized that lymphoma...
10.
Chiriaco M, Ursu G, Amodio D, Cotugno N, Volpi S, Berardinelli F, et al.
Front Immunol
. 2022 Aug;
13:919237.
PMID: 35967303
Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized by recurrent infections and thrombocytopenia. Manifestations of...