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Page 1
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F. Hadjadj J, et al. Among authors: bras m. Nat Commun. 2020 Oct 21;11(1):5341. doi: 10.1038/s41467-020-18925-4. Nat Commun. 2020. PMID: 33087723 Free PMC article.
Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.
Charbit-Henrion F, Jeverica AK, Bègue B, Markelj G, Parlato M, Avčin SL, Callebaut I, Bras M, Parisot M, Jazbec J, Homan M, Ihan A, Rieux-Laucat F, Stolzenberg MC, Ruemmele FM, Avčin T, Cerf-Bensussan N; GENIUS Group. Charbit-Henrion F, et al. Among authors: bras m. J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):378-384. doi: 10.1097/MPG.0000000000001262. J Pediatr Gastroenterol Nutr. 2017. PMID: 27253662
Loss of ARHGEF1 causes a human primary antibody deficiency.
Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A, Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O, Bras M, Molina TJ, Cavazzana M, André-Schmutz I, Durandy A, Fischer A, Oksenhendler E, Kracker S. Bouafia A, et al. Among authors: bras m. J Clin Invest. 2019 Mar 1;129(3):1047-1060. doi: 10.1172/JCI120572. Epub 2019 Feb 4. J Clin Invest. 2019. PMID: 30521495 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: bras m. Nat Commun. 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7. Nat Commun. 2023. PMID: 37349339 Free PMC article.
First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.
Parlato M, Charbit-Henrion F, Hayes P, Tiberti A, Aloi M, Cucchiara S, Bègue B, Bras M, Pouliet A, Rakotobe S, Ruemmele F, Knaus UG, Cerf-Bensussan N. Parlato M, et al. Among authors: bras m. Gastroenterology. 2017 Aug;153(2):609-611.e3. doi: 10.1053/j.gastro.2016.12.053. Epub 2017 Jul 3. Gastroenterology. 2017. PMID: 28683258 No abstract available.
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.
Parlato M, Charbit-Henrion F, Pan J, Romano C, Duclaux-Loras R, Le Du MH, Warner N, Francalanci P, Bruneau J, Bras M, Zarhrate M, Bègue B, Guegan N, Rakotobe S, Kapel N, De Angelis P, Griffiths AM, Fiedler K, Crowley E, Ruemmele F, Muise AM, Cerf-Bensussan N. Parlato M, et al. Among authors: bras m. EMBO Mol Med. 2018 Apr;10(4):e8483. doi: 10.15252/emmm.201708483. EMBO Mol Med. 2018. PMID: 29567797 Free PMC article.
Oncogenetic landscape of lymphomagenesis in coeliac disease.
Cording S, Lhermitte L, Malamut G, Berrabah S, Trinquand A, Guegan N, Villarese P, Kaltenbach S, Meresse B, Khater S, Dussiot M, Bras M, Cheminant M, Tesson B, Bole-Feysot C, Bruneau J, Molina TJ, Sibon D, Macintyre E, Hermine O, Cellier C, Asnafi V, Cerf-Bensussan N; CELAC network. Cording S, et al. Among authors: bras m. Gut. 2022 Mar;71(3):497-508. doi: 10.1136/gutjnl-2020-322935. Epub 2021 Feb 12. Gut. 2022. PMID: 33579790 Free PMC article.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C. Heidet L, et al. Among authors: bras m. J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31. J Am Soc Nephrol. 2017. PMID: 28566479 Free PMC article.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, Bessières B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I. Luscan R, et al. Among authors: bras m. Am J Hum Genet. 2017 Dec 7;101(6):1006-1012. doi: 10.1016/j.ajhg.2017.10.010. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198720 Free PMC article.
383 results