Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

Autor: Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., 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., Furió-Tarí, P., Giess, A., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., 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., Orioli, A., Patch, C., Perez-Gil, D., Pereira, M. B., 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., Smedley, D., Smith, K. R., Smith, S. C., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Tanguy, M., 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., Cerkauskaite, Agne, Savige, Judy

Publikováno v: Scientific reports, Berlin : Nature Research, 2022, vol. 12, no. 1, art. no. 2722, p. [1-13]
Scientific Reports

Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the COL4A3–COL4A5 genes that cause Alport syndrome result in Gly substitutions. This study examined the molecular characteristics of Gly substituti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40daad614d27b89048f76f4db9a06c98
https://doi.org/10.1038/s41598-022-06525-9

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::814ec4680703a794c0981226b81ed4d3

Improving interpretation of cardiac phenotypes and enhancing discovery with expanded knowledge in the gene ontology

Autor: Lovering, R, Roncaglia, P, Howe, D, Laulederkind, S, Khodiyar, V, Berardini, T, Tweedie, S, Foulger, R, Osumi-Sutherland, D, Campbell, N, Huntley, R, Talmud, P, Blake, J, Breckenridge, R, Riley, P, Lambiase, P, Elliott, P, Clapp, L, Tinker, A, Hill, D

Publikováno v: Circulation. Cardiovascular Genetics

Supplemental Digital Content is available in the text.
Background: A systems biology approach to cardiac physiology requires a comprehensive representation of how coordinated processes operate in the heart, as well as the ability to interpret re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::306477d84df13775b3fe5c6ea88f91c4
https://ora.ox.ac.uk/objects/uuid:824b19a8-79a0-41a5-bff2-2ef0bb56a367

Drosophila SnoN modulates growth and patterning by antagonizing TGF-β signalling [Mech. Dev. 124 (2007) 304-317] (DOI:10.1016/j.mod.2006.12.006)

Autor: Ramel, M-C, Emery, CM, Foulger, R, Goberdhan, DCI, van den Heuvel, M, Wilson, C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::80dce6886886785e699eae4929513089
https://doi.org/10.1016/j.mod.2007.04.006

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