EML1 is essential for retinal photoreceptor migration and survival

Autor: Poria, D., Sun, C., Santeford, A., Kielar, M., Apte, R.S., Kisselev, O.G., Chen, S., Kefalov, V.J.

Publikováno v: Scientific reports, vol 12, iss 1
Scientific reports, vol. 12, no. 1, pp. 2897

Calcium regulates the response sensitivity, kinetics and adaptation in photoreceptors. In striped bass cones, this calcium feedback includes direct modulation of the transduction cyclic nucleotide-gated (CNG) channels by the calcium-binding protein C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e0dd641a8342c457f6f7d87ab8da47
https://doi.org/10.1038/s41598-022-06571-3

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

Autor: Zeynep Tümer, Karen Brøndum-Nielsen, Lisbeth Birk Møller, Katarina Beata Saltõkowa, Caroline Amalie Brunbjerg Hey, Tina Duelund Hjortshøj, Lasse Jonsgaard Larsen, Karen Grønskov

Publikováno v: Stem Cell Research, Vol 31, Iss, Pp 235-239 (2018)
Hey, C A B, Saltõkowa, K B, Larsen, L J, Tümer, Z, Brøndum-Nielsen, K, Grønskov, K, Hjortshøj, T D & Møller, L B 2018, ' Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T >G/c.1135G >C ', Stem Cell Research, vol. 31, pp. 235-239 . https://doi.org/10.1016/j.scr.2018.08.005

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful gener

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbf9577ca99e50dca0b4d06db4b0833f
http://www.sciencedirect.com/science/article/pii/S1873506118301971

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Publikováno v: Human Molecular Genetics. 27(3):529-545

DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital hear

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::29715cb1fa9b3eb34aae8376eed1a930
https://doi.org/10.1093/hmg/ddx422

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

Autor: Michael R. Brown, Christian Gieger, André G. Uitterlinden, Diana van Heemst, Alison D. Murray, Stephen B. Kritchevsky, Timo A. Lakka, Karen Schwander, Federica Laguzzi, Stephen S. Rich, Rajkumar Dorajoo, Yun Ju Sung, Xiaofeng Zhu, Hugues Aschard, Jing Hua Zhao, Gregory P. Wilson, Kenneth Rice, Barbara Sternfeld, Kent D. Taylor, Paul Elliott, Ei-Ei Khaing Nang, Ilja M. Nolte, Heather M. Stringham, Bruce M. Psaty, Heming Wang, Tangchun Wu, Caroline Hayward, Vilmundur Gudnason, Fernando Pires Hartwig, Paolo Gasparini, Jingjing Liang, Neil Risch, Albertine J. Oldehinkel, Ani Manichaikul, Tibor V. Varga, Michael Y. Tsai, Niek Verweij, Xueling Sim, Norihiro Kato, Evangelos Evangelou, Philippe Froguel, Xiuqing Guo, Traci M. Bartz, Nicholette D. Palmer, Woon-Puay Koh, Rozenn N. Lemaitre, Caizheng Yu, Mike A. Nalls, Mariaelisa Graff, Eric Boerwinkle, Dabeeru C. Rao, Thomas Meitinger, Virginia Fisher, Mario Sims, Charles Kooperberg, Carl D. Langefeld, Jaakko Tuomilehto, Reedik Mägi, Wei Zhao, Wanqing Wen, Donna K. Arnett, Ervin R. Fox, Lynda M. Rose, Maris Alver, Ayse Demirkan, Solomon K. Musani, Dennis O. Mook-Kanamori, Andres Metspalu, Jerome I. Rotter, Barry I. Freedman, Jiang He, Hermina Jakupović, Steven C. Hunt, Marco Brumat, Maria Pina Concas, Rob M. van Dam, Rico Rueedi, Jonathan Marten, Chi Charles Gu, Tõnu Esko, Peter Vollenweider, Zoltán Kutalik, Olli T. Raitakari, Ya X. Wang, Yong-Bing Xiang, Pamela J. Schreiner, Antonietta Robino, Tanika N. Kelly, Igor Rudan, Mathilde Boissel, Claudia Langenberg, Yii-Der Ida Chen, Anne U. Jackson, Lawrence F. Bielak, Brenda W.J.H. Penninx, Brigitte Kühnel, Christopher P. Nelson, Konstantin Strauch, Albert V. Smith, Daniel I. Chasman, Jasmin Divers, Lisa R. Yanek, M. Arfan Ikram, Melissa A. Richard, Nilesh J. Samani, Lisa de las Fuentes, H. Janaka de Silva, Jana V. van Vliet-Ostaptchouk, Yongmei Liu, Peter J. van der Most, Fang-Chi Hsu, Jeffrey R. O'Connell, Alexandre C. Pereira, Raymond Noordam, Changwei Li, Jie Yao, Trudy Voortman, Zhe Wang, Thomas H. Mosley, Diane M. Becker, Charles N. Rotimi, Sami Heikkinen, Archie Campbell, John M. C. Connell, Lenore J. Launer, Hua Tang, Rainer Rauramaa, Ruth J. F. Loos, Pirjo Komulainen, Amy R. Bentley, Patrik Wennberg, Chew-Kiat Heng, Kari E. North, Salman M. Tajuddin, Renée de Mutsert, David J. Porteous, Susan Redline, Sarah E. Harris, Tamara B. Harris, Raha Pazoki, Mickaël Canouil, Robert A. Scott, Jingzhong Ding, Mary F. Feitosa, Jost B. Jonas, José Eduardo Krieger, John M. Starr, Karin Leander, Jennifer A. Smith, Paul W. Franks, Charles B. Eaton, Sharon L.R. Kardia, E. Shyong Tai, Jill M. Norris, Annette Peters, Chiamaka Vivian Nwuba, Jianjun Liu, Stella Aslibekyan, Nora Franceschini, Kurt Lohman, Myriam Fornage, Dina Vojinovic, Erin B. Ware, Xiaoyin Li, Najaf Amin, Johanna Kuusisto, M. Yldau van der Ende, Cora E. Lewis, Lynne E. Wagenknecht, Jennifer G. Robinson, Franco Giulianini, Ulf de Faire, Yechiel Friedlander, Nicholas J. Wareham, Meian He, George J. Papanicolau, Nancy L. Pedersen, Bernardo L. Horta, Karen L. Mohlke, Kelley Pettee Gabriel, Minjung Kho, Michele K. Evans, Ozren Polasek, Markku Laakso, Tuomas O. Kilpeläinen, Ching-Ti Liu, Michael Boehnke, Jin-Fang Chai, Ioanna Ntalla, Cornelia M. van Duijn, L. Adrienne Cupples, Yuri Milaneschi, Stephen Sidney, Alan B. Zonderman, Leo-Pekka Lyytikäinen, Mohsen Ghanbari, Harold Snieder, Donald W. Bowden, Aldi T. Kraja, Alaitz Poveda, Terho Lehtimäki, Paul S. de Vries, Dongfeng Gu, Sotoodehnia Nona, Thomas W. Winkler, Muhammad Riaz, Ian J. Deary, Fumihiko Takeuchi, Pim van der Harst, Alisa K. Manning, Michael A. Province, Andrea R. V. R. Horimoto, David R. Weir, Wei Zheng, Alanna C. Morrison, Marzyeh Amini, Jian-Min Yuan, W. James Gauderman, Paul M. Ridker, Melanie Waldenberger, Chuan Gao, Xiao-Ou Shu, Patricia B. Munroe, Patricia A. Peyser, Jessica D. Faul, Xu Chen, Brian E. Cade, Patrik K. E. Magnusson, Tamar Sofer

Publikováno v: Nature Communications, 10(1):376. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.376. ⟨10.1038/s41467-018-08008-w⟩
Kilpeläinen, T O, Bentley, A R & Loos, R J F 2019, ' Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity ', Nature Communications, vol. 10, no. 1, 376 . https://doi.org/10.1038/s41467-018-08008-w
Kilpeläinen, T O, Bentley, A R, Noordam, R, Sung, Y J, Schwander, K, Winkler, T W, Jakupović, H, Chasman, D I, Manning, A, Ntalla, I, Aschard, H, Brown, M R, de las Fuentes, L, Franceschini, N, Guo, X, Vojinovic, D, Aslibekyan, S, Feitosa, M F, Kho, M, Musani, S K, Richard, M, Wang, H, Wang, Z, Bartz, T M, Bielak, L F, Campbell, A, Dorajoo, R, Fisher, V, Hartwig, F P, Horimoto, A R V R, Li, C, Lohman, K K, Marten, J, Sim, X, Smith, A V, Tajuddin, S M, Alver, M, Amini, M, Boissel, M, Chai, J F, Chen, X, Divers, J, Evangelou, E, Gao, C, Graff, M, Harris, S E, He, M, Hsu, F C, Zhao, J H, Loos, R J F, LifeLines Cohort Study & V Varga, T 2019, ' Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity ', Nature Communications, vol. 10, 376 . https://doi.org/10.1038/s41467-018-08008-w
Kilpeläinen, T O, Bentley, A R, Noordam, R, Sung, Y J, Schwander, K, Winkler, T W, Jakupović, H, Chasman, D I, Manning, A, Ntalla, I, Aschard, H, Brown, M R, de las Fuentes, L, Franceschini, N, Guo, X, Vojinovic, D, Aslibekyan, S, Feitosa, M F, Kho, M, Musani, S K, Richard, M, Wang, H, Wang, Z, Bartz, T M, Bielak, L F, Campbell, A, Dorajoo, R, Fisher, V, Hartwig, F P, Horimoto, A R V R, Li, C, Lohman, K K, Marten, J, Sim, X, Smith, A V, Tajuddin, S M, Alver, M, Amini, M, Boissel, M, Chai, J F, Chen, X, Divers, J, Evangelou, E, Gao, C, Graff, M, Harris, S E, He, M, Milaneschi, Y, Yuan, J-M, Penninx, B W J H, Lifelines Cohort Study, Weir, D R, Franks, P W, Rotter, J I, Kooperberg, C B, Gauderman, W J, Psaty, B M, Rice, K M, Munroe, P B, Fornage, M, Cupples, L A, Rotimi, C N, Morrison, A C, Rao, D C & Loos, R J F 2019, ' Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity ', Nature Communications, vol. 10, no. 1, 376 . https://doi.org/10.1038/s41467-018-08008-w
Nature Communications, 10
Nature Communications, 10:376. Nature Publishing Group
Nature Communications, 2019, 10 (1), pp.376. ⟨10.1038/s41467-018-08008-w⟩
Nat. Commun. 10:376 (2019)
Nature communications, vol. 10, no. 1, pp. 376

Publisher's version (útgefin grein)
Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0762057e28a365b8dbed4f0bf77d1b25
http://hdl.handle.net/10044/1/66702

The yeast Saccharomyces cerevisiae: An overview of methods to study autophagy progression

Autor: Delorme-Axford Elizabeth, Guimaraes Rodrigo Soares, Reggiori Fulvio, Klionsky Daniel J.

Publikováno v: Delorme-Axford, E, Guimaraes, R S, Reggiori, F & Klionsky, D J 2015, ' The yeast Saccharomyces cerevisiae : an overview of methods to study autophagy progression ', Methods, vol. 75, pp. 3-12 . https://doi.org/10.1016/j.ymeth.2014.12.008
Methods, 75, 3. Academic Press Inc.
Methods

Macroautophagy (hereafter autophagy) is a highly evolutionarily conserved process essential for sustaining cellular integrity, homeostasis, and survival. Most eukaryotic cells constitutively undergo autophagy at a low basal level. However, various st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4af7895a6301846a61dcd30c8280ab1
https://doi.org/10.1016/j.ymeth.2014.12.008