Prevalence and significance of DDX41 gene variants in the general population

Autor: Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Cheloor Kovilakam, Sruthi, Gu, Muxin, Dunn, William G., Marando, Ludovica, Barcena, Clea, Nik-Zainal, Serena, Mohorianu, Irina, Kar, Siddhartha P., Fabre, Margarete A., Quiros, Pedro M., Vassiliou, George S.

Publikováno v: In Blood 5 October 2023 142(14):1185-1192

Cultivation of early life history stages of Porphyra dioica from the British Isles.

Autor: Knoop, J.¹ (AUTHOR) jessica-knoop@web.de, Griffin, J. N.¹ (AUTHOR), Barrento, S.^1,2 (AUTHOR)

Publikováno v: Journal of Applied Phycology. Feb2020, Vol. 32 Issue 1, p459-471. 13p.

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.

Autor: Sanjaya, Prima, Maljanen, Katri, Katainen, Riku, Waszak, Sebastian M., Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R.

Publikováno v: Genome Medicine; 7/7/2023, Vol. 15 Issue 1, p1-18, 18p

Temporal stability of European rocky shore assemblages: variation across a latitudinal gradient and the role of habitat-formers

Autor: Bulleri, F., Benedetti-Cecchi, L., Cusson, M., Maggi, E., Arenas, F., Aspden, R., Bertocci, I., Crowe, T. P., Davoult, D., Eriksson, B. K., Fraschetti, S., Golléty, C., Griffin, J. N., Jenkins, S. R., Kotta, J., Kraufvelin, P., Molis, M., Pinto, I. Sousa, Terlizzi, A., Valdivia, N., Paterson, D. M.

Publikováno v: Oikos, 2012 Nov 01. 121(11), 1801-1809.

Externí odkaz: http://dx.doi.org/10.1111/j.1600-0706.2011.19967.x

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

Autor: Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Elhassan, Elhussein A. E., Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G., Kistler, Andreas D., Wilson, Ian J., Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Eckardt, Kai-Uwe, Bleyer, Anthony J., Köttgen, Anna, Conlon, Peter J., Wiesener, Michael, Sayer, John A., Rampoldi, Luca, Devuyst, Olivier, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M.A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O’Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M.

Publikováno v: Proceedings of the National Academy of Sciences, Vol. 119, no.33, p. 1-11 (2022)
Olinger, Eric; Schaeffer, Céline; Kidd, Kendrah; Elhassan, Elhussein A. E.; Cheng, Yurong; Dufour, Inès; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G.; Kistler, Andreas D.; Wilson, Ian J.; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J.; Köttgen, Anna; Conlon, Peter J.; ... (2022). An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proceedings of the National Academy of Sciences of the United States of America-PNAS, 119(33), e2114734119. National Academy of Sciences NAS 10.1073/pnas.2114734119

The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein excreted in normal urine. Rare large-effect variants in UMOD cause autosomal dominant tubulointerstitial kidney disease (ADTKD), while common low-impact variants strongly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9992b5b7be10b4291c032c2b67526611