Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

Autor: Smits, Daphne J., Dekker, Jordy, Douben, Hannie, Schot, Rachel, Magee, Helen, Bakhtiari, Somayeh, Koehler, Katrin, Huebner, Angela, Schuelke, Markus, Darvish, Hossein, Vosoogh, Shohreh, Tafakhori, Abbas, Jameie, Melika, Taghiabadi, Ehsan, Wilson, Yana, Shah, Margit, van Slegtenhorst, Marjon A., Medici-van den Herik, Evita G., van Ham, Tjakko J., Kruer, Michael C., Mancini, Grazia M.S.

Publikováno v: In Human Genetics and Genomics Advances 10 October 2024 5(4)

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Genetic studies of body mass index yield new insights for obesity biology

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Nature, 518(7538), 197. Nature Publishing Group
Nature
Nature, 518(7538), 197-U401
Nature, Vol. 518, No 7538 (2015) pp. 197-206
Nature, vol. 518, no. 7538, pp. 197-206
Nature 518(7538), 197-206 (2015). doi:10.1038/nature14177
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Locke, A E, Kahali, B, Berndt, S I, Justice, A E, Pers, T H, Day, F R, Powell, C, Vedantam, S, Buchkovich, M L, Yang, J, Croteau-Chonka, D C, Esko, T, Fall, T, Ferreira, T, Gustafsson, S, Kutalik, Z, Luan, J, Maegi, R, Randall, J C, Winkler, T W, Wood, A R, Workalemahu, T, Faul, J D, Smith, J A, Zhao, J H, Zhao, W, Chen, J, Fehrmann, R, Hedman, A K, Karjalainen, J, Schmidt, E M, Absher, D, Amin, N, Anderson, D, Beekman, M & Bolton, J L & Bragg-Gresham, L & Buyske, S & Demirkan, A & Deng, G & Fraser, R M & Hayward, C & McLachlan, S & Campbell, H & Morris, A D & Price, J F & Rudan, I & Walker, M & Wilson, J F & Visscher, P M 2015, ' Genetic studies of body mass index yield new insights for obesity biology ', Nature, vol. 518, no. 7538, pp. 197-U401 . https://doi.org/10.1038/nature14177
Nature, 518(7538), 197-U401. Nature Publishing Group
Nature, 518, 7538, pp. 197-206
Nature, 518, 197-206

Item does not contain fulltext Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure

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https://research.vu.nl/en/publications/58992b26-1689-48dd-bb82-82548598fe61

Discovery and refinement of loci associated with lipid levels

Autor: Willer, Cristen J, Schmidt, Ellen M, Sengupta, Sebanti, Peloso, Gina M, Gustafsson, Stefan, Kanoni, Stavroula, Ganna, Andrea, Chen, Jin, Buchkovich, Martin L, Mora, Samia, Beckmann, Jacques S, Bragg-Gresham, Jennifer L, Chang, Hsing-Yi, Demirkan, Ayşe, Den Hertog, Heleen M, Do, Ron, Donnelly, Louise A, Ehret, Georg B, Esko, Tõnu, Feitosa, Mary F, Ferreira, Teresa, Fischer, Krista, Fontanillas, Pierre, Fraser, Ross M, Freitag, Daniel F, Gurdasani, Deepti, Heikkilä, Kauko, Hyppönen, Elina, Isaacs, Aaron, Jackson, Anne U, Johansson, Åsa, Johnson, Toby, Kaakinen, Marika, Kettunen, Johannes, Kleber, Marcus E, Li, Xiaohui, Luan, Jian'an, Lyytikäinen, Leo-Pekka, Magnusson, Patrik KE, Mangino, Massimo, Mihailov, Evelin, Montasser, May E, Müller-Nurasyid, Martina, Nolte, Ilja M, O'Connell, Jeffrey R, Palmer, Cameron D, Perola, Markus, Petersen, Ann-Kristin, Sanna, Serena, Saxena, Richa, Service, Susan K, Shah, Sonia, Shungin, Dmitry, Sidore, Carlo, Song, Ci, Strawbridge, Rona J, Surakka, Ida, Tanaka, Toshiko, Teslovich, Tanya M, Thorleifsson, Gudmar, Van den Herik, Evita G, Voight, Benjamin F, Volcik, Kelly A, Waite, Lindsay L, Wong, Andrew, Wu, Ying, Zhang, Weihua, Absher, Devin, Asiki, Gershim, Barroso, Inês, Been, Latonya F, Bolton, Jennifer L, Bonnycastle, Lori L, Brambilla, Paolo, Burnett, Mary S, Cesana, Giancarlo, Dimitriou, Maria, Doney, Alex SF, Döring, Angela, Elliott, Paul, Epstein, Stephen E, Ingi Eyjolfsson, Gudmundur, Gigante, Bruna, Goodarzi, Mark O, Grallert, Harald, Gravito, Martha L, Groves, Christopher J, Hallmans, Göran, Hartikainen, Anna-Liisa, Hayward, Caroline, Hernandez, Dena, Hicks, Andrew A, Holm, Hilma, Hung, Yi-Jen, Illig, Thomas, Jones, Michelle R, Kaleebu, Pontiano, Kastelein, John JP, Khaw, Kay-Tee, Kim, Eric

Publikováno v: Nature genetics, vol 45, iss 11

Levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for coronary artery disease. To identify new loci and refine known loci influe

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https://escholarship.org/uc/item/25j7v2mx

Genomewide Association Studies of Stroke

Autor: Bos, Michiel J., Haritunians, Talin, Shahar, Eyal, Koudstaal, Peter J., Rice, Kenneth, Rosamond, Wayne D., Aulchenko, Yurii S., Yang, Qiong, Du, Yangchun, Hofman, Albert, Coresh, Josef, Folsom, Aaron R., Rivadeneira, Fernando, Heckbert, Susan R., Debette, Stephanie, Kelly-Hayes, Margaret, Kase, Carlos S., Cushman, Mary, DeCarli, Charles, Launer, Lenore J., Struchalin, Maksim, Seshadri, Sudha, Glazer, Nicole L., Lopez, Oscar L., Ikram, M. Arfan, Smith, Nicholas L., Lumley, Thomas, Fornage, Myriam, Beiser, Alexa, DeStefano, Anita L., Bis, Joshua C., van den Herik, Evita G.

The genes underlying the risk of stroke in the general population remain undetermined.

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