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A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. Urreizti R, et al. Among authors: cozzuto l. Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138. Sci Rep. 2017. PMID: 28281571 Free PMC article.
An atlas of alternative splicing profiles and functional associations reveals new regulatory programs and genes that simultaneously express multiple major isoforms.
Tapial J, Ha KCH, Sterne-Weiler T, Gohr A, Braunschweig U, Hermoso-Pulido A, Quesnel-Vallières M, Permanyer J, Sodaei R, Marquez Y, Cozzuto L, Wang X, Gómez-Velázquez M, Rayon T, Manzanares M, Ponomarenko J, Blencowe BJ, Irimia M. Tapial J, et al. Among authors: cozzuto l. Genome Res. 2017 Oct;27(10):1759-1768. doi: 10.1101/gr.220962.117. Epub 2017 Aug 30. Genome Res. 2017. PMID: 28855263 Free PMC article.
Citizen science charts two major "stomatotypes" in the oral microbiome of adolescents and reveals links with habits and drinking water composition.
Willis JR, González-Torres P, Pittis AA, Bejarano LA, Cozzuto L, Andreu-Somavilla N, Alloza-Trabado M, Valentín A, Ksiezopolska E, Company C, Onywera H, Montfort M, Hermoso A, Iraola-Guzmán S, Saus E, Labeeuw A, Carolis C, Hecht J, Ponomarenko J, Gabaldón T. Willis JR, et al. Among authors: cozzuto l. Microbiome. 2018 Dec 6;6(1):218. doi: 10.1186/s40168-018-0592-3. Microbiome. 2018. PMID: 30522523 Free PMC article.
Oral microbiome in down syndrome and its implications on oral health.
Willis JR, Iraola-Guzmán S, Saus E, Ksiezopolska E, Cozzuto L, Bejarano LA, Andreu-Somavilla N, Alloza-Trabado M, Puig-Sola A, Blanco A, Broglio E, Carolis C, Hecht J, Ponomarenko J, Gabaldón T. Willis JR, et al. Among authors: cozzuto l. J Oral Microbiol. 2020 Dec 30;13(1):1865690. doi: 10.1080/20002297.2020.1865690. J Oral Microbiol. 2020. PMID: 33456723 Free PMC article.
NFAT5 Amplifies Antipathogen Responses by Enhancing Chromatin Accessibility, H3K27 Demethylation, and Transcription Factor Recruitment.
Lunazzi G, Buxadé M, Riera-Borrull M, Higuera L, Bonnin S, Huerga Encabo H, Gaggero S, Reyes-Garau D, Company C, Cozzuto L, Ponomarenko J, Aramburu J, López-Rodríguez C. Lunazzi G, et al. Among authors: cozzuto l. J Immunol. 2021 Jun 1;206(11):2652-2667. doi: 10.4049/jimmunol.2000624. Epub 2021 May 24. J Immunol. 2021. PMID: 34031145 Free PMC article.
Citizen-science based study of the oral microbiome in Cystic fibrosis and matched controls reveals major differences in diversity and abundance of bacterial and fungal species.
Willis JR, Saus E, Iraola-Guzmán S, Cabello-Yeves E, Ksiezopolska E, Cozzuto L, Bejarano LA, Andreu-Somavilla N, Alloza-Trabado M, Blanco A, Puig-Sola A, Broglio E, Carolis C, Ponomarenko J, Hecht J, Gabaldón T. Willis JR, et al. Among authors: cozzuto l. J Oral Microbiol. 2021 May 17;13(1):1897328. doi: 10.1080/20002297.2021.1897328. J Oral Microbiol. 2021. PMID: 34104346 Free PMC article.
42 results