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Page 1
Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.
de Cevins C, Delage L, Batignes M, Riller Q, Luka M, Remaury A, Sorin B, Fali T, Masson C, Hoareau B, Meunier C, Parisot M, Zarhrate M, Pérot BP, García-Paredes V, Carbone F, Galliot L, Nal B, Pierre P, Canard L, Boussard C, Crickx E, Guillemot JC, Bader-Meunier B, Bélot A, Quartier P, Frémond ML, Neven B, Boldina G, Augé F, Alain F, Didier M, Rieux-Laucat F, Ménager MM. de Cevins C, et al. Among authors: parisot m. Cell Rep Med. 2023 Dec 19;4(12):101333. doi: 10.1016/j.xcrm.2023.101333. Cell Rep Med. 2023. PMID: 38118407 Free PMC article.
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Zhu G, Didry-Barca B, Seabra L, Rice GI, Uggenti C, Touimy M, Rodero MP, Trapero RH, Bondet V, Duffy D, Gautier P, Livingstone K, Sutherland FJH, Lebon P, Parisot M, Bole-Feysot C, Masson C, Cagnard N, Nitschké P, Anderson G, Assmann B, Barth M, Boespflug-Tanguy O, D'Arco F, Dorboz I, Giese T, Hacohen Y, Hancarova M, Husson M, Lepine A, Lim M, Mancardi MM, Melki I, Neubauer D, Sa M, Sedlacek Z, Seitz A, Rottman MS, Sanquer S, Straussberg R, Vlčková M, Villéga F, Wagner M, Zerem A, Marsh JA, Frémond ML, Kaliakatsos M, Crow YJ, El-Daher MT, Lepelley A. Zhu G, et al. Among authors: parisot m. Lancet Neurol. 2025 Mar;24(3):218-229. doi: 10.1016/S1474-4422(24)00526-X. Lancet Neurol. 2025. PMID: 39986310 Free PMC article.
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M. Duclaux-Loras R, et al. Among authors: parisot m. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997. J Clin Invest. 2022. PMID: 35575086 Free PMC article.
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L, Carbone F, Riller Q, Zachayus JL, Kerbellec E, Buzy A, Stolzenberg MC, Luka M, de Cevins C, Kalouche G, Favier R, Michel A, Meynier S, Corneau A, Evrard C, Neveux N, Roudières S, Pérot BP, Fusaro M, Lenoir C, Pellé O, Parisot M, Bras M, Héritier S, Leverger G, Korganow AS, Picard C, Latour S, Collet B, Fischer A, Neven B, Magérus A, Ménager M, Pasquier B, Rieux-Laucat F. Delage L, et al. Among authors: parisot m. Nat Commun. 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7. Nat Commun. 2023. PMID: 37349339 Free PMC article.
Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.
Ormieres C, Lesieur-Sebellin M, Siquier-Pernet K, Delplancq G, Rio M, Parisot M, Nitschké P, Rodriguez-Fontenla C, Bodineau A, Narcy L, Schlumberger E, Cantagrel V, Malan V. Ormieres C, et al. Among authors: parisot m. Mol Autism. 2025 Feb 13;16(1):10. doi: 10.1186/s13229-025-00642-8. Mol Autism. 2025. PMID: 39948625 Free PMC article. Clinical Trial.
Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Adar1 Knockout Mice.
Zerad L, Gacem N, Gayda F, Day L, Sinigaglia K, Richard L, Parisot M, Cagnard N, Mathis S, Bole-Feysot C, O'Connell MA, Pingault V, Dambroise E, Keegan LP, Vallat JM, Bondurand N. Zerad L, et al. Among authors: parisot m. Cells. 2024 Nov 23;13(23):1952. doi: 10.3390/cells13231952. Cells. 2024. PMID: 39682701 Free PMC article.
A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V. Bertani-Torres W, et al. Among authors: parisot m. Am J Med Genet A. 2023 Dec;191(12):2813-2818. doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2. Am J Med Genet A. 2023. PMID: 37533297
A wave of deep intronic mutations in X-linked Alport syndrome.
Boisson M, Arrondel C, Cagnard N, Morinière V, Arkoub ZA, Saei H, Heidet L, Kachmar J, Hummel A, Knebelmann B, Bonnet-Dupeyron MN, Isidor B, Izzedine H, Legrand E, Couarch P, Gribouval O, Bole-Feysot C, Parisot M, Nitschké P, Antignac C, Dorval G. Boisson M, et al. Among authors: parisot m. Kidney Int. 2023 Aug;104(2):367-377. doi: 10.1016/j.kint.2023.05.006. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230224 Free article.
Exploring the genetic landscape of HCV-related B-cell lymphomas using whole exome sequencing.
Armand M, Degaud M, Tesson B, Laurent C, Vavasseur M, Parisot M, Hoareau-Coudert B, Canioni D, Michot JM, Charlotte F, Meignin V, Laurent C, Traverse-Gléhen A, Damotte D, Bachy E, Besson C, Hermine O, Davi F, Couronné L. Armand M, et al. Among authors: parisot m. Leukemia. 2023 Jun;37(6):1388-1391. doi: 10.1038/s41375-023-01868-2. Epub 2023 Mar 13. Leukemia. 2023. PMID: 36914771 No abstract available.
50 results