Human Disease model utilizes li1Tg (AB/TL)
RNA Expression
Protein Expression
Reporter Gene Expression
- Stegmann, J.D., Kalanithy, J.C., Dworschak, G.C., Ishorst, N., Mingardo, E., Lopes, F.M., Ho, Y.M., Grote, P., Lindenberg, T.T., Yilmaz, Ö., Channab, K., Seltzsam, S., Shril, S., Hildebrandt, F., Boschann, F., Heinen, A., Jolly, A., Myers, K., McBride, K., Bekheirnia, M.R., Bekheirnia, N., Scala, M., Morleo, M., Nigro, V., Torella, A., TUDP consortium, Pinelli, M., Capra, V., Accogli, A., Maitz, S., Spano, A., Olson, R.J., Klee, E.W., Lanpher, B.C., Jang, S.S., Chae, J.H., Steinbauer, P., Rieder, D., Janecke, A.R., Vodopiutz, J., Vogel, I., Blechingberg, J., Cohen, J.L., Riley, K., Klee, V., Walsh, L.E., Begemann, M., Elbracht, M., Eggermann, T., Stoppe, A., Stuurman, K., van Slegtenhorst, M., Barakat, T.S., Mulhern, M.S., Sands, T.T., Cytrynbaum, C., Weksberg, R., Isidori, F., Pippucci, T., Severi, G., Montanari, F., Kruer, M.C., Bakhtiari, S., Darvish, H., Reutter, H., Hagelueken, G., Geyer, M., Woolf, A.S., Posey, J.E., Lupski, J.R., Odermatt, B., Hilger, A.C. (2024) Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine. 9:1818
- Devane, J., Ott, E., Olinger, E.G., Epting, D., Decker, E., Friedrich, A., Bachmann, N., Renschler, G., Eisenberger, T., Briem-Richter, A., Grabhorn, E.F., Powell, L., Wilson, I.J., Rice, S.J., Miles, C.G., Wood, K., Genomics England Research Consortium, Trivedi, P., Hirschfield, G., Pietrobattista, A., Wohler, E., Mezina, A., Sobreira, N., Agolini, E., Maggiore, G., Dahmer-Heath, M., Yilmaz, A., Boerries, M., Metzger, P., Schell, C., Grünewald, I., Konrad, M., König, J., Schlevogt, B., Sayer, J.A., Bergmann, C. (2022) Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. American journal of human genetics. 109(5):928-943
- Epting, D., Decker, E., Ott, E., Eisenberger, T., Bader, I., Bachmann, N., Bergmann, C. (2022) The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Human molecular genetics. 31(14):2295-2306
- Epting, D., Senaratne, L.D.S., Ott, E., Holmgren, A., Sumathipala, D., Larsen, S.M., Wallmeier, J., Bracht, D., Frikstad, K.M., Crowley, S., Sikiric, A., Barøy, T., Käsmann-Kellner, B., Decker, E., Decker, C., Bachmann, N., Patzke, S., Phelps, I.G., Katsanis, N., Giles, R., Schmidts, M., Zucknick, M., Lienkamp, S.S., Omran, H., Davis, E.E., Doherty, D., Strømme, P., Frengen, E., Bergmann, C., Misceo, D. (2020) Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Human Mutation. 41(12):2179-2194
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