Zobrazeno 1 - 10
of 116
pro vyhledávání: '"DNA, Mitochondrial genetics"'
Publikováno v:
Acta Médica Portuguesa, Vol 30, Iss 7-8, Pp 581-585 (2017)
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing
Externí odkaz:
https://doaj.org/article/9f8f1653d6694d698d3a3f1f1871f8f6
Autor:
Kate N. O’Neill, Emily Aubrey, Laura D. Howe, Evie Stergiakouli, Santiago Rodriguez, Patricia M. Kearney, Linda M. O’Keeffe
Publikováno v:
O'Neill, K N, Aubrey, E, Howe, L D, Stergiakouli, E, Rodriguez, S, Kearney, P M & O'Keeffe, L M 2023, ' Mitochondrial DNA haplogroups and trajectories of cardiometabolic risk factors during childhood and adolescence : A prospective cohort study ', PLoS ONE, vol. 18, no. 4, e0284226 . https://doi.org/10.1371/journal.pone.0284226
Background Mitochondria are organelles responsible for converting glucose into energy. Mitochondrial DNA is exclusively maternally inherited. The role of mitochondrial DNA haplogroups in the aetiology of cardiometabolic disease risk is not well under
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::988819509493c47fabe65f1b609206f9
https://hdl.handle.net/1983/2304c2f8-0814-4855-8895-d513001e82cb
https://hdl.handle.net/1983/2304c2f8-0814-4855-8895-d513001e82cb
Autor:
Sibelle T. Vilaça, Francesco Maroso, Paulo Lara, Benoit de Thoisy, Damien Chevallier, Larissa Souza Arantes, Fabricio R. Santos, Giorgio Bertorelle, Camila J. Mazzoni
This dataset contains ddRAD data used in our sea turtles genomics research on hybridization in Brazil. In this paper, we analyzed hybridization patterns, population structure and relatedness between southwest Atlantic population with a focus on Brazi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8f1336fbe82f91c0c4cc61aeb3d8fcb
https://doi.org/10.1101/2022.10.10.511144
https://doi.org/10.1101/2022.10.10.511144
Autor:
Nijman, I. J., Rosen, B. D., Bardou, P., Faraut, T., Cumer, T., Daly, K. G., Zheng, Z., Cai, Y., Asadollahpour, H., Kul, B. C., Zhang, W. -Y., Guangxin, E., Ayin, A., Baird, H., Bakhtin, M., Balteanu, V. A., Barfield, D., Berger, B., Blichfeldt, T., Boink, G., Bugiwati, S. R. A., Cai, Z., Carolan, S., Clark, E., Cubric-Curik, V., Dagong, M. I. A., Dorji, T., Drew, L., Guo, J., Hallsson, J., Horvat, S., Kantanen, J., Kawaguchi, F., Kazymbet, P., Khayatzadeh, N., Kim, N., Shah, M. K., Liao, Y., Martinez, A., Masangkay, J., Masaoka, M., Mazza, R., Mcewan, J., Milanesi, M., Omar, F. M., Nomura, Y., Ouchene-Khelifi, N. -A., Pereira, F., Sahana, G., Salavati, M., Sasazaki, S., Da Silva, A., Simcic, M., Solkner, J., Sutherland, A., Tigchelaar, J., Zhang, H., Ajmone-Marsan, P., Bradley, D. G., Colli, L., Drogemuller, C., Jiang, Y., Lei, C., Mannen, H., Pompanon, F., Tosser-Klopp, G., Lenstra, J. A., Kijas, J., Guldbrandtsen, B., Denoyelle, L., Sarry, J., le Talouarn, E., Alberti, A., Orvain, C., Engelen, S., Duby, D., Martin, P., Danchin, C., Duclos, D., Allain, D., Arquet, R., Mandonnet, N., Naves, M., Palhiere, I., Rupp, R., Rezaei, H. R., Foran, M., Stella, A., Del Corvo, M., Crisa, A., Marletta, D., Crepaldi, P., Ottino, M., Randi, E., Mujibi, D. F., Gondwe, T., Benjelloun, B., Taela, M. D. G., Nash, O., Moaeen-ud-Din, M., Visser, C., Goyache, F., Alvarez, I., Amills, M., Sanchez, A., Capote, J., Jordana, J., Pons, A., Balears, I., Molina, A., Mruttu, H. A., Masiga, C. W., Van Tassell, C. P., Reecy, J., Luikart, G., Sikosana, J., Anila, H., Petrit, D., Roswitha, B., Philippe, B., Aziz, F., Christos, P., El-Barody, M. A. A., Pierre, T., Phillip, E., Gordon, L., Albano, B. -P., Stephanie, Z., Michel, T., Georg, E., Horst, B., Eveline, I. -A., Luhken, G., Krugmann, D., Eva-Maria, P., Shirin, L., Katja, G., Christina, P., Jutta, R., Marco, B., Andreas, G., Al Tarrayrah, J., Georgios, K., Olga, K., Katerina, K., Christina, L., Anton, I., Lazlo, F., Gabriele, C., Elisabetta, M., Marco, P., Antonello, C., Tiziana, S., Mario, C., Francesca, F., Stefano, G., Marta, M., Bordonaro, S., Giuseppe, D. U., Fabio, P., Mariasilvia, D. A., Alessio, V., Irene, C., Lorraine, P., Mahamoud, A. -S., Van Cann, L. M., Roman, N., Popielarczyk, D., Ewa, S., Augustin, V., Susana, D., Javier, C., Oscar, C., David, G., Regis, C., Gabriela, O. -R., Glowatzki, M. -L., Okan, E., Inci, T., Evren, K., Mike, B., Trinidad, P., Gabriela, J., Godfrey, H., Stella, D., Louise, W., Martin, T., Sam, J., Riccardo, S.
Publikováno v:
Nijman, Isaäc J; Rosen, Benjamin D; Bardou, Philippe; Faraut, Thomas; Cumer, Tristan; Daly, Kevin G; Zheng, Zhuqing; Cai, Yudong; Asadollahpour, Hojjat; Kul, Bengi Çınar; Zhang, Wei-Yi; E, Guangxin; Ayin, A; Baird, Hayley; Bakhtin, Meirat; Bâlteanu, Valentin A; Barfield, Diana; Berger, Beate; Blichfeldt, Thor; Boink, Geert; ... (2022). Geographical contrasts of Y-chromosomal haplogroups from wild and domestic goats reveal ancient migrations and recent introgressions. Molecular Ecology, 31(16), pp. 4364-4380. Wiley-Blackwell 10.1111/mec.16579
Consortium, V G, Nijman, I J, Rosen, B D, Bardou, P, Faraut, T, Cumer, T, Daly, K G, Zheng, Z, Cai, Y, Asadollahpour, H, Kul, B Ç, Zhang, W-Y, Guangxin, E, Ayin, A, Baird, H, Bakhtin, M, Bâlteanu, V A, Barfield, D, Berger, B, Blichfeldt, T, Boink, G, Bugiwati, S R A, Cai, Z, Carolan, S, Clark, E, Cubric-Curik, V, Dagong, M I A, Dorji, T, Drew, L, Guo, J, Hallsson, J, Horvat, S, Kantanen, J, Kawaguchi, F, Kazymbet, P, Khayatzadeh, N, Kim, N, Shah, M K, Liao, Y, Martínez, A, Masangkay, J S, Masaoka, M, Mazza, R, McEwan, J, Milanesi, M, Faruque, M O, Nomura, Y, Ouchene-Khelifi, N-A, Pereira, F, Sahana, G, Salavati, M, Sasazaki, S, Da Silva, A, Simčič, M, Sölkner, J, Sutherland, A, Tigchelaar, J, Zhang, H, Consortium, E, Ajmone-Marsan, P, Bradley, D G, Colli, L, Drögemüller, C, Jiang, Y, Lei, C, Mannen, H, Pompanon, F, Tosser-Klopp, G & Lenstra, J A 2022, ' Geographical contrasts of Y-chromosomal haplogroups from wild and domestic goats reveal ancient migrations and recent introgressions ', Molecular Ecology, vol. 31, no. 16, pp. 4364-4380 . https://doi.org/10.1111/mec.16579
Clark, E & Salavati, M 2022, ' Geographical contrasts of Y-chromosomal haplogroups from wild and domestic goats reveal ancient migrations and recent introgressions ', Molecular Ecology, vol. 31, no. 16, pp. 4364-4380 . https://doi.org/10.1111/mec.16579
Molecular ecology, vol. 31, no. 16, pp. 4364-4380, 2022.
Molecular Ecology, 31(16), 4364. Blackwell Publishing Ltd
Consortium, V G, Nijman, I J, Rosen, B D, Bardou, P, Faraut, T, Cumer, T, Daly, K G, Zheng, Z, Cai, Y, Asadollahpour, H, Kul, B Ç, Zhang, W-Y, Guangxin, E, Ayin, A, Baird, H, Bakhtin, M, Bâlteanu, V A, Barfield, D, Berger, B, Blichfeldt, T, Boink, G, Bugiwati, S R A, Cai, Z, Carolan, S, Clark, E, Cubric-Curik, V, Dagong, M I A, Dorji, T, Drew, L, Guo, J, Hallsson, J, Horvat, S, Kantanen, J, Kawaguchi, F, Kazymbet, P, Khayatzadeh, N, Kim, N, Shah, M K, Liao, Y, Martínez, A, Masangkay, J S, Masaoka, M, Mazza, R, McEwan, J, Milanesi, M, Faruque, M O, Nomura, Y, Ouchene-Khelifi, N-A, Pereira, F, Sahana, G, Salavati, M, Sasazaki, S, Da Silva, A, Simčič, M, Sölkner, J, Sutherland, A, Tigchelaar, J, Zhang, H, Consortium, E, Ajmone-Marsan, P, Bradley, D G, Colli, L, Drögemüller, C, Jiang, Y, Lei, C, Mannen, H, Pompanon, F, Tosser-Klopp, G & Lenstra, J A 2022, ' Geographical contrasts of Y-chromosomal haplogroups from wild and domestic goats reveal ancient migrations and recent introgressions ', Molecular Ecology, vol. 31, no. 16, pp. 4364-4380 . https://doi.org/10.1111/mec.16579
Clark, E & Salavati, M 2022, ' Geographical contrasts of Y-chromosomal haplogroups from wild and domestic goats reveal ancient migrations and recent introgressions ', Molecular Ecology, vol. 31, no. 16, pp. 4364-4380 . https://doi.org/10.1111/mec.16579
Molecular ecology, vol. 31, no. 16, pp. 4364-4380, 2022.
Molecular Ecology, 31(16), 4364. Blackwell Publishing Ltd
By their paternal transmission, Y-chromosomal haplotypes are sensitive markers of population history and male-mediated introgression. Previous studies identified biallelic single-nucleotide variants in the SRY, ZFY and DDX3Y genes, which in domestic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d7783310f25f9095ba744025e3057c1
https://boris.unibe.ch/171365/1/Vargoats2022-ChY.pdf
https://boris.unibe.ch/171365/1/Vargoats2022-ChY.pdf
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-14 (2020)
Scientific Reports
Scientific Reports
Chuetas are a group of descendants of Majorcan Crypto-Jews (Balearic Islands, Spain) who were socially stigmatized and segregated by their Majorcan neighbours until recently; generating a community that, although after the seventeenth century no long
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eef821aa69829551835f6a05ad54ddf
https://doaj.org/article/14c6aa6991964b669ff20a59bd5d0c88
https://doaj.org/article/14c6aa6991964b669ff20a59bd5d0c88
Autor:
Leonor Gusmão, Masinda Nguidi, Javier Marrugo, Elizeu Fagundes de Carvalho, Verónica Gomes, Filipa Simão, Beatriz Martínez, António Amorim
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports
Scientific Reports
San Basilio de Palenque is an Afro-descendant community near Cartagena, Colombia, founded in the sixteenth century. The recognition of the historical and cultural importance of Palenque has promoted several studies, namely concerning the African root
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6be0b4c20318b8baada5677000413c05
http://link.springer.com/article/10.1038/s41598-020-77608-8
http://link.springer.com/article/10.1038/s41598-020-77608-8
Autor:
Yang, Weizhao, Feiner, Nathalie, Salvi, Daniele, Laakkonen, Hanna, Jablonski, Daniel, Pinho, Catarina, Carretero, Miguel, Sacchi, Roberto, Zuffi, Marco, Scali, Stefano, Plavos, Konstantinos, Pafilis, Panayiotis, Poulakakis, Nikos, Lymberakis, Petros, Jandzik, David, Schulte, Ulrich, Aubret, Fabien, Badiane, Arnaud, Perez I de Lanuza, Guillem, Abalos, Javier, While, Geoffrey, Uller, Tobias
Publikováno v:
Molecular Biology and Evolution
Molecular Biology and Evolution, 2022, 38 (1), pp.msab311. ⟨10.1093/molbev/msab311⟩
Molecular Biology and Evolution, Oxford University Press (OUP), 2021, ⟨10.1093/molbev/msab311⟩
Molecular Biology and Evolution, 2022, 38 (1), pp.msab311. ⟨10.1093/molbev/msab311⟩
Molecular Biology and Evolution, Oxford University Press (OUP), 2021, ⟨10.1093/molbev/msab311⟩
International audience; Abstract The Mediterranean Basin has experienced extensive change in geology and climate over the past six million years. Yet, the relative importance of key geological events for the distribution and genetic structure of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6985564d9e82b9c9355ffbd55f802286
https://hal.science/hal-03431933
https://hal.science/hal-03431933
Autor:
Josef Finsterer, Sinda Zarrouk-Mahjoub
Publikováno v:
Acta Médica Portuguesa, Vol 30, Iss 9, Pp 665-666 (2017)
N/A.
Externí odkaz:
https://doaj.org/article/72f93549ec384caf87be8a696bb7d332
Autor:
Stéphanie Chhun, Yanick J. Crow, Henna Tyynismaa, Bert Callewaert, Gillian I. Rice, Manju A Kurian, Christine Bodemer, Edwin Carter, Lien De Somer, Luis Seabra, Simon Holden, Hugh J. McMillan, Brigitte Bader-Meunier, Kristin Suetens, Timothy Wai, Lucy Grove, Sylvie Fraitag, Erika Della Mina, Ashish Dhir, Fran Faes, Marie Hully, Mathieu P Rodero, Pascale de Lonlay, Marie-Louise Frémond, Alice Lepelley, Daniela Buhas, David A. Dyment, Carine Wouters, Erika Van Nieuwenhove, Lise Waumans
Publikováno v:
Lepelley, A, Mina, E D, Nieuwenhove, E V, Waumans, L, Fraitag, S, Rice, G I, Dhir, A, Frémond, M-L, Rodero, M P, Seabra, L, Carter, E, Bodemer, C, Buhas, D, Callewaert, B, Lonlay, P D, Somer, L D, Dyment, D A, Faes, F, Grove, L, Holden, S, Hully, M, Kurian, M A, McMillan, H J, Suetens, K, Tyynismaa, H, Chhun, S, Wai, T, Wouters, C, Bader-Meunier, B & Crow, Y J 2021, ' Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A ', Journal of Experimental Medicine, vol. 218, no. 10, e20201560 . https://doi.org/10.1084/jem.20201560
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2021, 218 (10), pp.e20201560. ⟨10.1084/jem.20201560⟩
Journal of Experimental Medicine, 2021, 218 (10), pp.e20201560. ⟨10.1084/jem.20201560⟩
Lepelley, A, Della Mina, E, Van Nieuwenhove, E, Waumans, L, Fraitag, S, Rice, G I, Dhir, A, Frémond, M-L, Rodero, M P, Seabra, L, Carter, E, Bodemer, C, Buhas, D, Callewaert, B, de Lonlay, P, De Somer, L, Dyment, D A, Faes, F, Grove, L, Holden, S, Hully, M, Kurian, M A, McMillan, H J, Suetens, K, Tyynismaa, H, Chhun, S, Wai, T, Wouters, C, Bader-Meunier, B & Crow, Y J 2021, ' Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A ', Journal of Experimental Medicine . https://doi.org/10.1084/jem.20201560
JOURNAL OF EXPERIMENTAL MEDICINE
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2021, 218 (10), pp.e20201560. ⟨10.1084/jem.20201560⟩
Journal of Experimental Medicine, 2021, 218 (10), pp.e20201560. ⟨10.1084/jem.20201560⟩
Lepelley, A, Della Mina, E, Van Nieuwenhove, E, Waumans, L, Fraitag, S, Rice, G I, Dhir, A, Frémond, M-L, Rodero, M P, Seabra, L, Carter, E, Bodemer, C, Buhas, D, Callewaert, B, de Lonlay, P, De Somer, L, Dyment, D A, Faes, F, Grove, L, Holden, S, Hully, M, Kurian, M A, McMillan, H J, Suetens, K, Tyynismaa, H, Chhun, S, Wai, T, Wouters, C, Bader-Meunier, B & Crow, Y J 2021, ' Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A ', Journal of Experimental Medicine . https://doi.org/10.1084/jem.20201560
JOURNAL OF EXPERIMENTAL MEDICINE
Mitochondrial DNA (mtDNA) has been suggested to drive immune system activation, but the induction of interferon signaling by mtDNA has not been demonstrated in a Mendelian mitochondrial disease. We initially ascertained two patients, one with a purel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::535a86644148a93958b751d60959fb97
https://pure.manchester.ac.uk/ws/files/211719510/jem_20201560.pdf
https://pure.manchester.ac.uk/ws/files/211719510/jem_20201560.pdf
Autor:
Jing Ma, Peixin Yang, Bin Gao, Robim Marcelino Rodrigues, Seonghwan Hwang, Haixia Cao, Dechun Feng, Ruixue Ren, Suthat Liangpunsakul, Yong He, Jian Sun, Mingjiang Xu, Tianyi Ren
Publikováno v:
JCI Insight
Alcohol-associated liver disease is a spectrum of liver disorders with histopathological changes ranging from simple steatosis to steatohepatitis, cirrhosis, and hepatocellular carcinoma. Recent data suggest that chronic-plus-binge ethanol intake ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6adeef2c85a140e54ad04509355c9188
https://doi.org/10.1172/jci.insight.136496
https://doi.org/10.1172/jci.insight.136496