Results 61 to 70 of about 512 (102)
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
, 2019 Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease.Rosenheck S., Ortega, L., Posey, J. E., Bekheirnia, Mir Reza, Aydin, H., Lyon G. J., Alikasifoglu, M., Aktas D., Brautbar, A., Wortmann S. B., Kok, F., Rosenheck, Sarah, Bozdogan, S., Dorschner M., Alikasifoglu, M., Bierhals, T., Jhangiani, S.N., Gibbs, Richard A., Magli, A., Yoon M., Johannsen, J., Ityel, H., Casella E. B., Hui, J., Sutton, V. Reid, Lessel, D., Alikasifoglu, Mehmet, Lyon, G.J., Lyon, Gholson J., Karaca, Ender, Paine, Ingrid, Monteiro, F., Kok F., Marmorale, T., Pinelli, M., Alikasifoglu M., Cappuccio, Gerarda, Wang K., Johannsen, J., Dorschner, M., Bekheirnia, M.R., Rosenheck, S., Bayram Y., Bekheirnia M. R., Wang, K., Brunetti-Pierri, N., Kleyner R., Van Esch H., Ityel, H., Grochowski, Christopher M., Karaca E., Marmorale, Taylor, Monteiro, Fabiola, Bozdogan, Sevcan, Aktas, Dilek, Kitajima, J.P., Gibbs, R. A., Bayram, Y., Akdemir, Zeynep Coban, Robison, R., Cappuccio G., Wortmann, Saskia B., Pinelli M., Monteiro, F., Ortega, Lucia, Yeung, W.L., Yeung W. L., Hildebrandt F., Lupski J. R., Coban Akdemir, Z., Bekheirnia, M. R., Wilichowski, E., Sutton, V.R., White, Janson J., Van den Veyver, I.B., Dorschner, Michael, Wortmann, S. B., Hildebrandt, Friedhelm, Brautbar, A., Sutton, V. R., Brunetti-Pierri, N., Casella, E. B., Pinelli, M., Jhangiani S. N., Casella, E.B., Ortega L., Glass, I., Wortmann, S.B., Bayram, Yavuz, Glass I., Wilichowski, E., Jhangiani, S. N., Muzny D. M., Ityel H., Johannsen, Jessika, Kitajima, J. P., Muzny, Donna M., Glass, I., Bamshad, M., Brunetti-Pierri, Nicola, Van den Veyver, I. B., Hildebrandt, F., Brautbar A., Wong, B. K. Y., Aydin, H., Jhangiani, Shalini N., Kleyner, R., Hempel, Maja, Santer R., Bayram, Y., Bozdogan, S., Bamshad, Michael, Lessel, D., Posey, Jennifer E., Hui, Joannie, Muzny, D. M., Robison, R., Cappuccio, G., Gibbs R. A., Yeung, W. L., Kok, Fernando, Van Esch, H., Hempel, M., Aktas, D., Yoon, M., Ortega, L., Rosenheck, S., Casella, Erasmo B., Wilichowski, Ekkehard, Paine, I., Lupski, J.R., Brunetti-Pierri N., Hildebrandt, F., Van den Veyver, Ignatia B., Grochowski, C. M., Hempel, M., van Esch, H., Yoon, Margaret, Kleyner, Robert, Santer, Rene, Cappuccio, G., White, J.J., Wilichowski E., Bozdogan S., Kitajima J. P., Lupski, J. R., White J. J., Karaca, E., Marmorale T., Robison R., ORTEGA DE LUNA, ERNESTO, Wang, K., Gibbs, R.A., Lyon, G. J., Paine I., Hui J., Aydin, Hatip, Grochowski, C.M., Lupski, James R., Paine, I., Van den Veyver I. B., Bamshad M., Muzny, D.M., Van Esch, Hilde, Yoon, M., Bamshad, M., Coban Akdemir, Zeynep, Wong B. K. Y., Robison, Reid, Pinelli, Michele, Aydin H., Coban Akdemir Z., Wong, B.K.Y., Bierhals, Tatjana, Monteiro F., Johannsen J., Posey J. E., Wong, Bibiana K.Y., Posey, J.E., Wang, Kai, Hui, J., Magli, A., Sutton V. R., Coban Akdemir, Z., Santer, R., Lessel, Davor, Aktas, D., Glass, Ian, Grochowski C. M., Kok, F., Ityel, Hadas, Dorschner, M., Brautbar, Ariel, Magli A., Marmorale, T., Hempel M., Magli, Adriano, Yeung, Wai Lan, Kleyner, R., Bierhals T., Santer, R., White, J. J., Lessel D., Bierhals, T., Karaca, E., Kitajima, Joao Paulo +205 morecore +1 more sourcePhenylalanyl-tRNA synthetase FARS-1/FARSA balances longevity and immunity by downregulating endogenous mitochondrial double-stranded RNAs
Endogenous double-stranded RNAs (dsRNAs) are immunogenic self-molecules that drive aberrant immune activation under pathological conditions. Here, we show that dsRNAs and their regulation by RNA-binding proteins are key determinants of the fine balance ...Ham, Seokjin, Lee, Jongsun, Jeon, Moonhyeon, Park, JiSoo, Min, Hyemin, Kang, Eunseok, Jung, Yoonji, Kong, Yunhee, Bong, Dajeong, Lee, Gee-Yoon, Sohn, Jooyeon, Kim, Yoosik, Jang, Yerim, Lim, JinA, Lee, Hanseul, Lee, Seung Jae V +15 morecore +1 more source46,XY DSD due to biallelic DHX37 gene mutations
, 2021 Eltan, Mehmet, Ates, ESRA, Helvacioglu, Didem, BEREKET, ABDULLAH, Abali, Zehra Yavas, DEMİRCİOĞLU, SERAP, GÜRAN, TÜLAY +6 morecore +1 more sourceCorrigendum: Molecular mechanism of the RNA helicase DHX37 and its activation by UTP14A in ribosome biogenesis [PDF]
, 2019 van den Heuvel, Jasmin, Kutay, Ulrike, Jinek, Martin, Boneberg, Franziska M, Kobel, Lena, Bammert, Lukas, Bargsten, Katja, Brandmann, Tobias +7 morecore +1 more source
