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Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.
Pasutto F, Zenkel M, Hoja U, Berner D, Uebe S, Ferrazzi F, Schödel J, Liravi P, Ozaki M, Paoli D, Frezzotti P, Mizoguchi T, Nakano S, Kubota T, Manabe S, Salvi E, Manunta P, Cusi D, Gieger C, Wichmann HE, Aung T, Khor CC, Kruse FE, Reis A, Schlötzer-Schrehardt U. Pasutto F, et al. Among authors: ferrazzi f. Nat Commun. 2017 May 23;8:15466. doi: 10.1038/ncomms15466. Nat Commun. 2017. PMID: 28534485 Free PMC article.
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R. Tawamie H, et al. Among authors: ferrazzi f. Am J Hum Genet. 2017 Mar 2;100(3):555-561. doi: 10.1016/j.ajhg.2017.01.032. Am J Hum Genet. 2017. PMID: 28257693 Free PMC article.
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Hauer NN, et al. Among authors: ferrazzi f. Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29758562 Free PMC article.
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.
Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT. Hauer NN, et al. Among authors: ferrazzi f. Eur J Hum Genet. 2019 Jul;27(7):1061-1071. doi: 10.1038/s41431-019-0362-0. Epub 2019 Feb 26. Eur J Hum Genet. 2019. PMID: 30809043 Free PMC article. Clinical Trial.
Locally renewing resident synovial macrophages provide a protective barrier for the joint.
Culemann S, Grüneboom A, Nicolás-Ávila JÁ, Weidner D, Lämmle KF, Rothe T, Quintana JA, Kirchner P, Krljanac B, Eberhardt M, Ferrazzi F, Kretzschmar E, Schicht M, Fischer K, Gelse K, Faas M, Pfeifle R, Ackermann JA, Pachowsky M, Renner N, Simon D, Haseloff RF, Ekici AB, Bäuerle T, Blasig IE, Vera J, Voehringer D, Kleyer A, Paulsen F, Schett G, Hidalgo A, Krönke G. Culemann S, et al. Among authors: ferrazzi f. Nature. 2019 Aug;572(7771):670-675. doi: 10.1038/s41586-019-1471-1. Epub 2019 Aug 7. Nature. 2019. PMID: 31391580 Free PMC article.
Sox11 is an Activity-Regulated Gene with Dentate-Gyrus-Specific Expression Upon General Neural Activation.
von Wittgenstein J, Zheng F, Wittmann MT, Balta EA, Ferrazzi F, Schäffner I, Häberle BM, Valero-Aracama MJ, Koehl M, Miranda CJ, Kaspar BK, Ekici AB, Reis A, Abrous DN, Alzheimer C, Lie DC. von Wittgenstein J, et al. Among authors: ferrazzi f. Cereb Cortex. 2020 May 18;30(6):3731-3743. doi: 10.1093/cercor/bhz338. Cereb Cortex. 2020. PMID: 32080705
FAM13A is associated with non-small cell lung cancer (NSCLC) progression and controls tumor cell proliferation and survival.
Eisenhut F, Heim L, Trump S, Mittler S, Sopel N, Andreev K, Ferrazzi F, Ekici AB, Rieker R, Springel R, Assmann VL, Lechmann M, Koch S, Engelhardt M, Warnecke C, Trufa DI, Sirbu H, Hartmann A, Finotto S. Eisenhut F, et al. Among authors: ferrazzi f. Oncoimmunology. 2016 Dec 14;6(1):e1256526. doi: 10.1080/2162402X.2016.1256526. eCollection 2017. Oncoimmunology. 2016. PMID: 28197372 Free PMC article.
Genome-wide cooperation of EMT transcription factor ZEB1 with YAP and AP-1 in breast cancer.
Feldker N, Ferrazzi F, Schuhwerk H, Widholz SA, Guenther K, Frisch I, Jakob K, Kleemann J, Riegel D, Bönisch U, Lukassen S, Eccles RL, Schmidl C, Stemmler MP, Brabletz T, Brabletz S. Feldker N, et al. Among authors: ferrazzi f. EMBO J. 2020 Sep 1;39(17):e103209. doi: 10.15252/embj.2019103209. Epub 2020 Jul 21. EMBO J. 2020. PMID: 32692442 Free PMC article.
59 results