Marianna Parlato
Overview
Explore the profile of Marianna Parlato including associated specialties, affiliations and a list of published articles.
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Articles
40
Citations
841
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Recent Articles
1.
Revenu C, Lebreton C, Cannata Serio M, Rosello M, Duclaux-Loras R, Duroure K, et al.
Cell Rep
. 2024 Dec;
43(12):114941.
PMID: 39636728
Vesicle trafficking and the establishment of apicobasal polarity are essential processes in epithelial morphogenesis. UNC45A deficiency has been reported in a multi-organ syndrome presenting with severe diarrhea associated with enterocyte...
2.
Ghasempour S, Warner N, Guan R, Rodari M, Ivanochko D, Whittaker Hawkins R, et al.
J Exp Med
. 2024 Nov;
221(12).
PMID: 39526957
Integrin heterodimers containing an Integrin alpha V subunit are essential for development and play critical roles in cell adhesion and signaling. We identified biallelic variants in the gene coding for...
3.
Jeanpierre M, Cognard J, Tusseau M, Riller Q, Bui L, Berthelet J, et al.
J Exp Med
. 2024 Jul;
221(9.
PMID: 39028869
An exome sequencing strategy employed to identify pathogenic variants in patients with pediatric-onset systemic lupus or Evans syndrome resulted in the discovery of six novel monoallelic mutations in PTPN2. PTPN2...
4.
Parlato M, Cerf-Bensussan N
Cell Mol Gastroenterol Hepatol
. 2023 Jul;
16(4):648-649.
PMID: 37517801
No abstract available.
5.
Rodari M, Cazals-Hatem D, Uzzan M, Martin Silva N, Khiat A, Ta M, et al.
J Clin Immunol
. 2023 May;
43(6):1403-1413.
PMID: 37156989
Purpose: Hyper activation of the JAK-STAT signaling underlies the pathophysiology of many human immune-mediated diseases. Herein, the study of 2 adult patients with SOCS1 haploinsufficiency illustrates the severe and pleomorphic...
6.
Rodari M, Cerf-Bensussan N, Parlato M
Front Immunol
. 2022 Dec;
13:1066375.
PMID: 36569843
The transforming growth factor-β (TGF-β) family of cytokines exerts pleiotropic functions during embryonic development, tissue homeostasis and repair as well as within the immune system. Single gene defects in individual...
7.
Misset B, Philippart F, Fitting C, Bedos J, Diehl J, Hamzaoui O, et al.
PLoS One
. 2022 Oct;
17(10):e0267517.
PMID: 36301921
Background: Although sepsis is a life-threatening condition, its heterogeneous presentation likely explains the negative results of most trials on adjunctive therapy. This study in patients with sepsis aimed to identify...
8.
Charbit-Henrion F, Haas M, Chaussade S, Cellier C, Cerf-Bensussan N, Malamut G, et al.
Clin Gastroenterol Hepatol
. 2022 Aug;
21(5):1368-1371.e2.
PMID: 35944833
No abstract available.
9.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, et al.
J Clin Invest
. 2022 May;
132(10).
PMID: 35575086
Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear....
10.
Charbit-Henrion F, Goguyer-Deschaumes R, Borensztajn K, Mirande M, Berthelet J, Rodrigues-Lima F, et al.
Clin Genet
. 2022 Feb;
101(5-6):552-558.
PMID: 35132614
Variants in aminoacyl-tRNA synthetases (ARSs) genes are associated to a broad spectrum of human inherited diseases. Patients with defective PheRS, encoded by FARSA and FARSB, display brain abnormalities, interstitial lung...