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Collagen deposition in lung parenchyma driven by depletion of interstitial Lyve-1+ macrophages prevents cigarette smoke-induced emphysema and loss of airway function.
Dagnachew YM, Lim HY, Wupeng L, Lim SY, Lim SJN, Thiam CH, Tan SW, Eng JLJ, Mei D, Hazwany Mohammad Azhar S, Ong WS, Tan QHC, Wong WF, Angeli V. Dagnachew YM, et al. Among authors: mei d. Front Immunol. 2025 Jan 3;15:1493395. doi: 10.3389/fimmu.2024.1493395. eCollection 2024. Front Immunol. 2025. PMID: 39830508 Free PMC article.
RICTOR variants are associated with neurodevelopmental disorders.
Carapito R, Molitor A, Pavinato L, Skeyni A, Lambert M, Pichot A, Jiang J, Spinnhirny P, Zimmermann L, Boucher P, Chung CWT, Elserafy N, Blair EM, Li D, Elisabeth B, Kotzaeridou U, Karch S, Wagner M, Lunsing RJ, Pfundt R, Boycott KM, Bruel AL, Mau-Them FT, Moutton S, Conti V, Mei D, Cetica V, Guerrini R, Brunet T, Rump P, Mussa A, Brusco A, Lemire G, de Vries BBA, Miao Z, Isidor B, Bahram S. Carapito R, et al. Among authors: mei d. Eur J Hum Genet. 2024 Dec 30. doi: 10.1038/s41431-024-01774-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39738822
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM. Sabeh P, et al. Among authors: mei d. Am J Hum Genet. 2025 Jan 2;112(1):75-86. doi: 10.1016/j.ajhg.2024.11.009. Epub 2024 Dec 24. Am J Hum Genet. 2025. PMID: 39721588
Neuropsychological tests at the Italian Centers for Cognitive Disorders and Dementias: results from a survey on 450 specialized services.
Vaccaro R, Lorenzini P, Giaquinto F, Matascioli F, Carnevale G, Sciancalepore F, Gasparini M, Salvi E, Corbo M, Locuratolo N, Vanacore N, Bacigalupo I; Permanent Table of the National Dementia Plan Study Group; CCDDs Study Group. Vaccaro R, et al. Aging Clin Exp Res. 2024 Dec 20;37(1):1. doi: 10.1007/s40520-024-02869-6. Aging Clin Exp Res. 2024. PMID: 39704981 Free PMC article.
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