Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Autor: Sellier, Chantal, Buijsen, Ronald A.M., He, Fang, Natla, Sam, Jung, Laura, Tropel, Philippe, Gaucherot, Angeline, Jacobs, Hugues, Meziane, Hamid, Vincent, Alexandre, Champy, Marie-France, Sorg, Tania, Pavlovic, Guillaume, Wattenhofer-Donze, Marie, Birling, Marie-Christine, Oulad-Abdelghani, Mustapha, Eberling, Pascal, Ruffenach, Frank, Joint, Mathilde, Anheim, Mathieu, Martinez-Cerdeno, Veronica, Tassone, Flora, Willemsen, Rob, Hukema, Renate K., Viville, Stéphane, Martinat, Cecile, Todd, Peter K., Charlet-Berguerand, Nicolas

Publikováno v: In Neuron 18 January 2017 93(2):331-347

The STRA6 Receptor Is Essential for Retinol-binding Protein-induced Insulin Resistance but Not for Maintaining Vitamin A Homeostasis in Tissues Other Than the Eye

Autor: Berry, Daniel C., Jacobs, Hugues, Marwarha, Gurdeep, Gely-Pernot, Aurore, O'Byrne, Sheila M. ^**, DeSantis, David, Klopfenstein, Muriel, Feret, Betty, Dennefeld, Christine, Blaner, William S. ^**, Croniger, Colleen M., Mark, Manuel, Noy, Noa, Ghyselinck, Norbert B.

Publikováno v: In Journal of Biological Chemistry 23 August 2013 288(34):24528-24539

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Human and mouse essentiality screens as a resource for disease gene discovery

Autor: Cacheiro, Pilar, Muñoz-Fuentes, Violeta, Westerberg, Henrik, Scott, R. H., Siddiq, A., Sieghart, A., Smith, K. R., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Thomas, E. R. A., Konopka, Tomasz, Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Hsu, Chih-Wei, Marschall, Susan, Lengger, Christoph, Maier, Holger, Seisenberger, Claudia, Bürger, Antje, Kühn, Ralf, Schick, Joel, Hörlein, Andreas, Oritz, Oskar, Giesert, Florian, Christiansen, Audrey, Beig, Joachim, Kenyon, Janet, Codner, Gemma, Fray, Martin, Johnson, Sara J, Cleak, James, Szoke-Kovacs, Zsombor, Lafont, David, Vancollie, Valerie E, McLaren, Robbie S B, Lanza, Denise G, Hughes-Hallett, Lena, Rowley, Christine, Sanderson, Emma, Galli, Antonella, Tuck, Elizabeth, Green, Angela, Tudor, Catherine, Siragher, Emma, Dabrowska, Monika, Mazzeo, Cecilia Icoresi, Beaudet, Arthur L, Griffiths, Mark, Gannon, David, Doe, Brendan, Cockle, Nicola, Kirton, Andrea, Bottomley, Joanna, Ingle, Catherine, Ryder, Edward, Gleeson, Diane, Ramirez-Solis, Ramiro, Heaney, Jason D, Birling, Marie-Christine, Pavlovic, Guillaume, Ayadi, Abdel, Hamid, Meziane, About, Ghina Bou, Champy, Marie-France, Jacobs, Hugues, Wendling, Olivia, Leblanc, Sophie, Vasseur, Laurent, Fuchs, Helmut, Chesler, Elissa J, Kumar, Vivek, White, Jacqueline K, Svenson, Karen L, Wiegand, Jean-Paul, Anderson, Laura L, Wilcox, Troy, Clark, James, Ryan, Jennifer, Denegre, James, Gailus-Durner, Valerie, Stearns, Tim, Philip, Vivek, Witmeyer, Catherine, Bates, Lindsay, Seavey, Zachary, Stanley, Pamela, Willet, Amelia, Roper, Willson, Creed, Julie, Moore, Michayla, Sorg, Tania, Dorr, Alex, Fraungruber, Pamelia, Presby, Rose, Mckay, Matthew, Nguyen-Bresinsky, Dong, Goodwin, Leslie, Urban, Rachel, Kane, Coleen, Murray, Stephen A, Prochazka, Jan, Novosadova, Vendula, Lelliott, Christopher J, Wardle-Jones, Hannah, Wells, Sara, Teboul, Lydia, Cater, Heather, Stewart, Michelle, Hough, Tertius, Wurst, Wolfgang, Dickinson, Mary E, Sedlacek, Radislav, Adams, David J, Seavitt, John R, Tocchini-Valentini, Glauco, Mammano, Fabio, Braun, Robert E, McKerlie, Colin, Herault, Yann, de Angelis, Martin Hrabě, Mallon, Ann-Marie, Bucan, Maja, Lloyd, K C Kent, Brown, Steve D M, Parkinson, Helen, Meehan, Terrence F, Smedley, Damian, Consortium, Genomics England Research, Consortium, International Mouse Phenotyping, Ambrose, J. C., Arumugam, P., Baple, E. L., Nutter, Lauryl M J, Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Peterson, Kevin A, Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Haselimashhadi, Hamed, Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Flenniken, Ann M, Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., Odhams, C. A., Patch, C., Morgan, Hugh, Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K.

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nat. Commun. 11:655 (2020)
Nature Communications 11(1), 655 (2020). doi:10.1038/s41467-020-14284-2
Nature Communications
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩
Nature communications 11 (2020): 1–16. doi:10.1038/s41467-020-14284-2
info:cnr-pdr/source/autori:Cacheiro, Pilar; Munoz-Fuentes, Violeta; Murray, Stephen A.; Dickinson, Mary E.; Bucan, Maja; Nutter, Lauryl M. J.; Peterson, Kevin A.; Haselimashhadi, Hamed; Flenniken, Ann M.; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G.; Beaudet, Arthur L.; Heaney, Jason D.; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J.; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J.; Seavitt, John R.; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E.; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabe; Mallon, Ann-Marie; Lloyd, K. C. Kent; Brown, Steve D. M.; Parkinson, Helen; Meehan, Terrence F.; Smedley, Damian; Ambrose, J. C.; Arumugam, P.; Baple, E. L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J. M.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Craig, C. E. H.; Daugherty, L. C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R. E.; Fowler, T.; Furio-Tari, P.; Hackett, J. M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J. E.; Hubbard, T. J. P.; Ibanez, K.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E. M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, K. R.; Sosinsky, A.; Spooner, W.; Stevens, H. E.; Stuckey, A.; Sultana, R.; Thomas, E. R. A.; Thompson, S. R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S. A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Marschall, Susan; Lengger, Christoph; Maier, Holger; Seisenberger, Claudia; Buerger, Antje; Kuehn, Ralf; Schick, Joel; Hoerlein, Andreas; Oritz, Oskar; Giesert, Florian; Beig, Joachim; Kenyon, Janet; Codner, Gemma; Fray, Martin; Johnson, Sara J.; Cleak, James; Szoke-Kovacs, Zsombor; Lafont, David; Vancollie, Valerie E.; McLaren, Robbie S. B.; Hughes-Hallett, Lena; Rowley, Christine; Sanderson, Emma; Galli, Antonella; Tuck, Elizabeth; Green, Angela; Tudor, Catherine; Siragher, Emma; Dabrowska, Monika; Mazzeo, Cecilia Icoresi; Griffiths, Mark; Gannon, David; Doe, Brendan; Cockle, Nicola; Kirton, Andrea; Bottomley, Joanna; Ingle, Catherine; Ryder, Edward; Gleeson, Diane; Ramirez-Solis, Ramiro; Birling, Marie-Christine; Pavlovic, Guillaume; Ayadi, Abdel; Hamid, Meziane; About, Ghina Bou; Champy, Marie-France; Jacobs, Hugues; Wendling, Olivia; Leblanc, Sophie; Vasseur, Laurent; Chesler, Elissa J.; Kumar, Vivek; White, Jacqueline K.; Svenson, Karen L.; Wiegand, Jean-Paul; Anderson, Laura L.; Wilcox, Troy; Clark, James; Ryan, Jennifer; Denegre, James; Stearns, Tim; Philip, Vivek; Witmeyer, Catherine; Bates, Lindsay; Seavey, Zachary; Stanley, Pamela; Willet, Amelia; Roper, Willson; Creed, Julie; Moore, Michayla; Dorr, Alex; Fraungruber, Pamelia; Presby, Rose; Mckay, Matthew; Nguyen-Bresinsky, Dong; Goodwin, Leslie; Urban, Rachel; Kane, Coleen/titolo:Human and mouse essentiality screens as a resource for disease gene discovery/doi:10.1038%2Fs41467-020-14284-2/rivista:Nature communications/anno:2020/pagina_da:1/pagina_a:16/intervallo_pagine:1–16/volume:11
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩
Nature communications, vol 11, iss 1

The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from v

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