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ZFIN ID:
ZDB-PERS-100622-7
Francescatto, Ludmila
Email:
francescattl@vcu.edu
URL:
Affiliation:
Address:
Room 306 Life Sciences Building 1000 W. Cary St Virginia Commonwealth University Richmond , VA 23284-2012 USA
Country:
United States
Phone:
Fax:
ORCID ID:
BIOGRAPHY AND RESEARCH INTERESTS
PUBLICATIONS
Bundy, J.L., Anderson, B.R., Francescatto, L., Garrett, M.E., Soldano, K.L., Telen, M.J., Davis, E.E., Ashley-Koch, A.E. (2019) RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes. PLoS One. 14:e0217042
Esteve, C., Francescatto, L., Tan, P.L., Bourchany, A., De Leusse, C., Marinier, E., Blanchard, A., Bourgeois, P., Brochier-Armanet, C., Bruel, A.L., Delarue, A., Duffourd, Y., Ecochard-Dugelay, E., Hery, G., Huet, F., Gauchez, P., Gonzales, E., Guettier-Bouttier, C., Komuta, M., Lacoste, C., Maudinas, R., Mazodier, K., Rimet, Y., Rivière, J.B., Roquelaure, B., Sigaudy, S., Stephenne, X., Thauvin-Robinet, C., Thevenon, J., Sarles, J., Levy, N., Badens, C., Goulet, O., Hugot, J.P., Katsanis, N., Faivre, L., Fabre, A. (2018) Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. American journal of human genetics. 102:364-374
Rothschild, S.C., Francescatto, L., Tombes, R.M. (2016) Immunostaining Phospho-epitopes in Ciliated Organs of Whole Mount Zebrafish Embryos. Journal of visualized experiments : JoVE. (108):53747
Perles, Z., Moon, S., Ta-Shma, A., Yaacov, B., Francescatto, L., Edvardson, S., Rein, A.J., Elpeleg, O., Katsanis, N. (2015) A human laterality disorder caused by a homozygous deleterious mutation in MMP21. Journal of Medical Genetics. 52(12):840-7
Hor, H., Francescatto, L., Bartesaghi, L., Ortega-Cubero, S., Kousi, M., Lorenzo-Betancor, O., Jiménez-Jiménez, F.J., Gironell, A., Clarimón, J., Drechsel, O., Agúndez, J.A., Broz, D.K., Chiquet-Ehrismann, R., Lleó, A., Coria, F., García-Martin, E., Alonso-Navarro, H., Martí, M.J., Kulisevsky, J., Hor, C.N., Ossowski, S., Chrast, R., Katsanis, N., Pastor, P., Estivill, X. (2015) Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. Human molecular genetics. 24(20):5677-86
Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L.B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S.N., Bainbridge, M.N., Lawson, K.S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P.J., Goksungur, M.T., Shy, M., Crawford, T.O., Koenig, M., Willer, J., Flores, B.N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D.M., Baylor-Hopkins Center for Mendelian Genomics, Katsanis, N., Battaloglu, E., Boerwinkle, E., Gibbs, R.A., Lupski, J.R. (2015) Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports. 12(7):1169-83
Zech, M., Lam, D.D., Francescatto, L., Schormair, B., Salminen, A.V., Jochim, A., Wieland, T., Lichtner, P., Peters, A., Gieger, C., Lochmüller, H., Strom, T.M., Haslinger, B., Katsanis, N., Winkelmann, J. (2015) Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia. American journal of human genetics. 96(6):883-93
Bonora, E., Bianco, F., Cordeddu, L., Bamshad, M., Francescatto, L., Dowless, D., Stanghellini, V., Cogliandro, R.F., Lindberg, G., Mungan, Z., Cefle, K., Ozcelik, T., Palanduz, S., Ozturk, S., Gedikbasi, A., Gori, A., Pippucci, T., Graziano, C., Volta, U., Caio, G., Barbara, G., D'Amato, M., Seri, M., Katsanis, N., Romeo, G., De Giorgio, R. (2015) Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-obstruction. Gastroenterology. 148(4):771-782.e11
Balasubramanian, R., Choi, J.H., Francescatto, L., Willer, J., Horton, E.R., Asimacopoulos, E.P., Stankovic, K.M., Plummer, L., Buck, C.L., Quinton, R., Nebesio, T.D., Mericq, V., Merino, P.M., Meyer, B.F., Monies, D., Gusella, J.F., Al Tassan, N., Katsanis, N., Crowley, W.F. (2014) Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proceedings of the National Academy of Sciences of the United States of America. 111(50):17953-8
Bernier, R., Golzio, C., Xiong, B., Stessman, H.A., Coe, B.P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A.T., Schuurs-Hoeijmakers, J.H., Fichera, M., Bosco, P., Buono, S., Alberti, A., Failla, P., Peeters, H., Steyaert, J., Vissers, L.E., Francescatto, L., Mefford, H.C., Rosenfeld, J.A., Bakken, T., O'Roak, B.J., Pawlus, M., Moon, R., Shendure, J., Amaral, D.G., Lein, E., Rankin, J., Romano, C., de Vries, B.B., Katsanis, N., Eichler, E.E. (2014) Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development. Cell. 158(2):263-76
Rothschild, S.C., Lahvic, J., Francescatto, L., McLeod, J.J., Burgess, S.M., and Tombes, R.M. (2013) CaMK-II activation is essential for zebrafish inner ear development and acts through Delta-Notch signaling. Developmental Biology. 381(1):179-88
Rothschild, S.C., Francescatto, L., Drummond, I.A., and Tombes, R.M. (2011) CaMK-II is a PKD2 target that promotes pronephric kidney development and stabilizes cilia. Development (Cambridge, England). 138(16):3387-97
Francescatto, L., Rothschild, S.C., Myers, A.L., and Tombes, R.M. (2010) The activation of membrane targeted CaMK-II in the zebrafish Kupffer's vesicle is required for left-right asymmetry. Development (Cambridge, England). 137(16):2753-2762
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