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New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M, Rochat I, Superti-Furga A, Campos-Xavier B, Héritier S, Pereira A, Deswarte C, Lévy R, Distefano M, Bustamante J, Roelens M, Borie R, Le Brun M, Crestani B, Casanova JL, Puel A, Hofer M, Fieschi C, Theodoropoulou K, Béziat V, Candotti F. Arlabosse T, et al. Among authors: distefano m. J Clin Immunol. 2023 Oct;43(7):1566-1580. doi: 10.1007/s10875-023-01517-4. Epub 2023 Jun 5. J Clin Immunol. 2023. PMID: 37273120 Free PMC article.
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: distefano m. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome.
Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M, Rochat I, Superti-Furga A, Campos-Xavier B, Héritier S, Pereira A, Deswarte C, Lévy R, Distefano M, Bustamante J, Roelens M, Borie R, Le Brun M, Crestani B, Casanova JL, Puel A, Hofer M, Fieschi C, Theodoropoulou K, Béziat V, Candotti F. Arlabosse T, et al. Among authors: distefano m. J Clin Immunol. 2023 Oct;43(7):1674. doi: 10.1007/s10875-023-01539-y. J Clin Immunol. 2023. PMID: 37341861 Free PMC article. No abstract available.
Library Screening, In Vivo Confirmation, and Structural and Bioinformatic Analysis of Pentapeptide Sequences as Substrates for Protein Farnesyltransferase.
Schey GL, Hildebrandt ER, Wang Y, Diwan S, Passetti HA, Potts GW, Sprague-Getsy AM, Leoni ER, Kuebler TS, Sham YY, Hougland JL, Beese LS, Schmidt WK, Distefano MD. Schey GL, et al. Among authors: distefano md. Int J Mol Sci. 2024 May 13;25(10):5324. doi: 10.3390/ijms25105324. Int J Mol Sci. 2024. PMID: 38791363 Free PMC article.
Development and validation of a scoring system to predict response to obeticholic acid in primary biliary cholangitis.
De Vincentis A, Ampuero J, Terracciani F, D'Amato D, Gerussi A, Cristoferi L, Cazzagon N, Bonaiuto E, Floreani A, Calvaruso V, Cadamuro L, Degasperi E, Morgando A, Vanni E, Lleo A, Colapietro F, Alvaro D, Castellaneta A, Labanca S, Viganò M, Distefano M, Palitti VP, Ricci C, De Matthaeis N, Marzioni M, Gómez-Dominguez E, Montero JL, Molina E, Garcia-Buey L, Casado M, Berenguer M, Conde I, Simon MA, Fuentes J, Costa-Moreira P, Macedo G, Jorquera F, Morillas RM, Presa J, Sousa JM, Gomes D, Santos L, Olveira A, Hernandez-Guerra M, Aburruza L, Santos A, Carvalho A, Uriz J, Gutierrez ML, Perez E, Chessa L, Pellicelli A, Marignani M, Muratori L, Niro GA, Brunetto M, Ponziani FR, Pompili M, Marra F, Galli A, Mussetto A, Alagna G, Simone L, Bertino G, Rosina F, Cozzolongo R, Russello M, Baiocchi L, Saitta C, Terreni N, Zolfino T, Rigamonti C, Vigano R, Cuccorese G, Pozzoni P, Pedone C, Grasso S, Picardi A, Invernizzi P, Sacco R, Izzi A, Fernandez-Rodriguez C, Vespasiani-Gentilucci U, Carbone M. De Vincentis A, et al. Among authors: distefano m. Clin Gastroenterol Hepatol. 2024 May 21:S1542-3565(24)00482-8. doi: 10.1016/j.cgh.2024.05.008. Online ahead of print. Clin Gastroenterol Hepatol. 2024. PMID: 38782175
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Wright MW, et al. Among authors: distefano mt. Annu Rev Biomed Data Sci. 2024 Apr 25. doi: 10.1146/annurev-biodatasci-102423-112456. Online ahead of print. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
423 results