Results 21 to 30 of about 544,097 (312)
Genetic models of vasopressin deficiency [PDF]
Experimental Physiology, 2000 Animal models of genetic hormone deficiency are useful as models for physiological studies of hormone deficiency and hormone action. Structure—function studies of the specific underlying gene defect may help in understanding mechanisms regulating gene expression and secretion of the peptide product. Spontaneous genetic models of vasopressin deficiency, openaire +2 more sourcesGenetics of Primary CoQ10 Deficiency
Current Genomics, 2006 Coenzyme Q (CoQ) is a lipophilic component of the mitochondrial respiratory enzyme chain, which transfers electrons to complex III (cytochrome bc complex) from complex I (NADH-CoQ reductase), complex II (succinate dehydrogenase), and from the oxidation of fatty acids and branched-chain amino acids via flavin-linked dehydrogenases.Naini, Ali, Quinzii, Catarina, Navas, Plácido, DiMauro, Salvatore, Hirano, Michio +4 moreopenaire +2 more sourcesIdentification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency. [PDF]
PLoS ONE, 2016 Antithrombin is a crucial anticoagulant serpin whose even moderate deficiency significantly increases the risk of thrombosis. Most cases with antithrombin deficiency carried genetic defects affecting exons or flanking regions of SERPINC1.We aimed to ...Mara Toderici, María Eugenia de la Morena-Barrio, José Padilla, Antonia Miñano, Ana Isabel Antón, Juan Antonio Iniesta, María Teresa Herranz, Nuria Fernández, Vicente Vicente, Javier Corral +9 moredoaj +1 more sourceA Comprehensive Evaluation of Potential Lung Function Associated Genes in the SpiroMeta General Population Sample [PDF]
, 2011 Rationale: Lung function measures are heritable traits that predict population morbidity and mortality and are essential for the diagnosis of chronic obstructive pulmonary disease (COPD). Variations in many genes have been reported to affect these traits,Shrine, Nick, McArdle, W. L., Caroline Hayward (149856), Zaboli, Ghazal, Sayers, Ian, Anneli Pouta, Surakka, I., Palmer, L.J., Igor Rudan (150101), Mangino, M., Ruth J. F. Loos, Nicholas J Wareham (7665416), Zgaga, Lina, Elliott, Paul, Zhai, G., David Hadley (220412), Rudnicka, AR, Joachim Heinrich (60421), Huffman, J., Huffman, JE, Wilmar Igl (149869), Rudnicka, Alicja R., Huffman, Jennifer E., Kaprio, Jaakko, Lina Zgaga (149875), Stipan Jankovic, Ozren Polašek (149888), Glaeser, S, Loos, Ruth J F, Heinrich, Joachim, David M. Evans, Jennifer E. Huffman (7665404), Probst-Hensch, Nicole M, Palmer, Lyle J., Johansson, Asa, Paul R. Burton (7581164), Martin D. Tobin, Paul R. Burton, Evans, DM, Wild, SH, David P Strachan, Louise V. Wain (7588511), Igl, W., Imboden, M., Hartikainen, Anna-Liisa, Jarvelin, Marjo-Riitta, Surakka, Ida, Consortium, SM, Koch, B., Wright, Alan F, Louise V Wain, Tim D. Spector (7588592), Homuth, G, Linda Mustelin (220425), Gyllensten, Ulf,, Campbell, Harry; id_orcid, Granell, Raquel, Strachan, David P., Jarvelin, M.R., Henry Völzke (64286), Zhao, J.-H., Johnson, T, Ramasamy, A, Lyle J. Palmer (7665407), Taina Rantanen, Johnson, T., ?, ?, Zhao, Jing Hua, Arthur William Musk (7665422), Repapi, Emmanouela, et al., Ida Surakka (120325), Imboden, Medea, Gyllensten, U., Grkovic, I., Obeidat, Ma’en, Nick Shrine (220391), Vitart, Veronique, Ruth J.F. Loos (7665413), Johansson, Åsa,, Nick Shrine, Ghazal Zaboli, Musk, AW, Huffman, Jennifer E, Probst-Hensch, NM, Maria Soler Artigas (7634069), Wright, A.F., Hadley, D., Tobin, M.D., Nicole M. Probst-Hensch (7634162), Stipan Jankovic (220423), Ozren Polašek, Loos, Ruth J.F., Eva Albrecht (174584), Wareham, N.J., Mangino, M, Guangju Zhai (110167), Ulf Gyllensten, Ian P. Hall (7377620), Probst-Hensch, Nicole M., Nicholas J Wareham, Alan F. Wright, Hartikainen, A.-L., Nicholas J. Wareham, Hall, I.P., Loos, Ruth J. F., Soler Artigas, M., Artigas, M.S., Burton, P.R, Zgaga, L, Johansson, Å, Tim D Spector, Medea Imboden, Hall, I. P., Wain, Louise V., Raquel Granell, Raquel Granell (123318), Ida Surakka, Henderson, John, Jankovic, S, Loos, RJF, Jennifer E. Huffman, McArdle, Wendy L., Wilson, James F, Loos, R. J. F., Palmer, Lyle J, Koch, B, Jennie Hui, Palmer, L., Gyllensten, Ulf, Kalsheker, N., Völzke, H, Paul Elliott, Artigas, Maria Soler, Probst-Hensch, N.M., Homuth, G., Deloukas, P., Eva Albrecht, Henderson, J, Rantanen, T., Jankovic, S., Wright, AF, Glaser, Sven, Toby Johnson, Palmer, LJ, Zaboli, G, Martin D Tobin, Marjo-Riitta Jarvelin (110290), Wareham, N. J., Zgaga, L., Wareham, NJ, Wright, Alan F., Toby Johnson (43283), Polaek, O., Anna-Liisa Hartikainen, Nicole M Probst-Hensch, Polasek, Ozren, Ruth J F Loos, Polasek, O., Jarvelin, MR, Jankovic, Stipan, Adaikalavan Ramasamy, Louise V. Wain, Jing Hua Zhao, Wild, Sarah H; id_orcid, Hall, IP, Huffman, J. E., Homuth, Georg, Wild, Sarah H, Deloukas, Panos, Harry Campbell (30339), Obeidat, M, Wareham, Nicholas J., Grkovic, Ivica, Rudan, I., Musk, A.W., Barroso, Ines, Burton, P. R., Alicja R. Rudnicka (7665410), Tim D. Spector, Wilson, James F., Sven Gläser, Maria Soler Artigas, Ulf Gyllensten (13773), Zhao, J.H., Zhao, JH, SpiroMeta Consortium, Hartikainen, A. L., Shrine, N, Vitart, V, Alicja R. Rudnicka, Zhao, J. H., Evans, David M., Hayward, C, Voelzke, Henry, Igl, W, Wilmar Igl, Panos Deloukas (21564), Lina Zgaga, Strachan, DP, Repapi, E, Hadley, David, Elliott, P., Polašek, O, Spector, TD, Palmer, L. J., Wain, L., Igor Rudan, Ivica Grkovic, Ramasamy, A., Marjo-Riitta Jarvelin, Ma'en Obeidat, Evans, D.M., Igl, Wilmar,, Panos Deloukas, Ma'en Obeidat (110232), Adaikalavan Ramasamy (4841), Hartikainen, A.L., Massimo Mangino (87550), Inês Barroso (2144), Gyllensten, U, Strachan, D. P., Henry Völzke, Tobin, MD, Wain, LV, Jaakko Kaprio (43154), Deloukas, P, Anneli Pouta (116626), Mustelin, L., Obeidat, Ma'en, Hui, J., SpiroMeta Consortium,, Spector, T. D., Hayward, C., Campbell, H, Campbell, Harry, Rudnicka, A.R., SpiroMeta Consortium (), Alicja R Rudnicka, Wright, A. F., Probst-Hensch N. M.,, Burton, Paul R., Cadby, Gemma, Noor Kalsheker, Gläser, S., Heinrich, J., Soranzo, N, Ramasamy, Adaikalavan, Sven Gläser (110276), Wain, L. V., Spector, Tim D., Zhai, G, Emmanouela Repapi, Kaprio, J., Åsa Johansson, Hartikainen, AL, Beate Koch (110151), Rantanen, Taina, Linda Mustelin, Pouta, Anneli, David P. Strachan, Wareham, Nicholas J, Georg Homuth (110202), Tobin, M. D., Barroso, I., Jennifer E Huffman, SpiroMeta Consortium (220429), Guangju Zhai, Artigas, MS, Noor Kalsheker (220393), Musk, A. W., Soler Artigas M.,, Alan F. Wright (7665419), John Henderson (123324), Jarvelin, M-R, Wilson, J.F., Obeidat, M., Grkovic, I, Jing Hua Zhao (7634084), Soranzo, N., Burton, P., Mangino, Massimo, Pouta, A., Rudnicka, A. R., Zaboli, Ghazal,, Völzke, Henry, Lyle J Palmer, Ghazal Zaboli (174959), Granell, R., Campbell, H., Hadley, D, Heinrich, J, Wild, S.H., Gemma Cadby (174601), Martin D. Tobin (7581161), Cadby, G, Zhai, Guangju, Jarvelin, M. R., James F Wilson, Wilson, James F; id_orcid, Zaboli, G., Kaprio, J, Alan F Wright, Massimo Mangino, Medea Imboden (110145), Caroline Hayward, Albrecht, E., Harry Campbell, Wendy L. McArdle, Strachan, D.P., Surakka, I, Musk, Arthur William, Cadby, G., Wain, L.V., Arthur William Musk, Veronique Vitart, Taina Rantanen (200021), Shrine, N., Sarah H. Wild (7512197), Pouta, A, Rudan, Igor, Nicole Soranzo (12361), Huffman, J.E., Mustelin, Linda, Soler Artigas, Maria, Rantanen, T, Åsa Johansson (84687), Veronique Vitart (149854), David P. Strachan (7634177), Nicole M. Probst-Hensch, McArdle, W.L., James F. Wilson (7638917), Inês Barroso, Wilson, J. F., Gläser, S, Burton, Paul R, Sarah H. Wild, Soranzo, Nicole, Hayward, Caroline, Gemma Cadby, Evans, D. M., Völzke, H., Johnson, Toby, Sayers, I., Elliott, P, Wendy L. McArdle (7634075), Igl, Wilmar, Wild, S. H., Burton, PR, Voelzke, H, Emmanouela Repapi (220397), Jennie Hui (220409), Kalsheker, Noor, Nicole Soranzo, McArdle, Wendy L, David M Evans, Lyle J. Palmer, Loos, RJ, Glaeser, Sven, Spector, Tim D, Sarah H Wild, Johansson, A., Imboden, M, Ian Sayers, Hui, Jennie, Ian P Hall, Hui, J, Granell, R, Cadby,Gemma, Henderson, J., McArdle, WL, Soler Artigas, M, Barroso, I, Sayers, I, Albrecht, E, Hartikainen, A-L, Koch, Beate, Ian P. Hall, Georg Homuth, Paul R Burton, Kalsheker, N, John Henderson, Spector, T.D., Jaakko Kaprio, James F. Wilson, Ivica Grkovic (220420), Wilson, JF, Mustelin, L, Repapi, E., Loos, R.J., Rudan, I, David Hadley, Wild, Sarah H., Beate Koch, David M. Evans (7190417), Vitart, V., Ian Sayers (37266), Joachim Heinrich, Paul Elliott (27295), Albrecht, Eva, Hall, Ian P., Tobin, Martin D., Hayward, Caroline; id_orcid, Wain, Louise V, Rudnicka, Alicja R, Wendy L McArdle, Anna-Liisa Hartikainen (110272) +406 morecore +1 more sourceGenetic analyses reveal a role for vitamin D insufficiency in HCV-associated hepatocellular carcinoma development [PDF]
, 2013 Background: Vitamin D insufficiency has been associated with the occurrence of various types of cancer, but causal relationships remain elusive. We therefore aimed to determine the relationship between genetic determinants of vitamin D serum levels and ...Jörg Bojunga, Stéphanie Bibert (3279381), Lange, Christian M., Mullhaupt, B., Ochi Hidenori, Thomas Berg (186372), Müller Tobias, Ochi, H., David Semela (416437), Gouttenoire, J., Müllhaupt, Beat, Kenichi Morikawa (416434), Nischalke, Hans-Dieter, Ulrich Spengler (205545), Ochi, Hidenori, Lange, Christian M, Dufour, J. F., David Semela, Malinverni Raffaele, Meri Gorgievski-Hrisoho (416435), Bochud Pierre-Yves, Francesco Negro (205592), Semela, David, Beat Müllhaupt (416436), Nischalke, H. D., Chayama, Kazuaki, Bochud, P. Y., Gouttenoire Jérôme, Negro, F., Cerny, A., Zoltan Kutalik, Kazuaki Chayama (128675), Lange, Christian, Negro Francesco, Pierre-Yves Bochud, Morikawa, Kenichi, Bibert, S., Malinverni, R., Spengler, U., Bibert, Stéphanie, Moradpour, Darius, Darius Moradpour (15815), Bochud, P.Y., Dufour, J.F., Hans-Dieter Nischalke (416433), Heim Markus H., Raffaele Malinverni (316140), Jean-François Dufour, Meri Gorgievski-Hrisoho, Berg Thomas, Miki, D., Vinciguerra, Manlio, Hidenori Ochi (128649), Gorgievski-Hrisoho, M., Andreas Cerny, Dufour, Jean-François, Kazuaki Chayama, Ulrich Spengler, Heim, M. H., Muller, T., Hans-Dieter Nischalke, Francesco Negro, Gorgievski-Hrisoho, Meri, Berg, Thomas, Markus H Heim, Darius Moradpour, Chayama, K., Kenichi Morikawa, Miki Daiki, Dufour Jean-François, Pierre-Yves Bochud (205597), Daiki Miki (128628), Miki, Daiki, Raffaele Malinverni, Bojunga Jörg, Jérôme Gouttenoire, Spengler Ulrich, Berg, T., Nischalke, H.D., Hidenori Ochi, Spengler, Ulrich, Cerny Andreas, Kutalik, Z., Zoltan Kutalik (3965672), Andreas Cerny (189787), Christian M Lange, Gouttenoire, Jérôme, Dufour, Jean-François Jacques, Gorgievski, Meri, Thomas Berg, Malinverni, Raffaele, Moradpour Darius, Beat Müllhaupt, Semela David, Daiki Miki, Chayama Kazuaki, Bojunga, Jörg, Stéphanie Bibert, Gorgievski-Hrisoho Meri, Tobias Müller (163591), Swiss Hepatitis C Cohort Study Group, Christian M. Lange (316130), Bojunga, J., Kutalik Zoltan, Tobias Müller, Lange, C. M., Lange Christian M., Cerny, Andreas, Markus H. Heim (237987), Lange, C.M., Kutalik, Zoltán, Heim, M.H., Nischalke Hans-Dieter, Moradpour, D., Morikawa, K., Semela, D., Jörg Bojunga (316147), Morikawa Kenichi, Negro, Francesco, Müller, Tobias, Hiroshima Liver Study Group, Bochud, Pierre-Yves, Bibert Stéphanie, Heim, Markus H., Müllhaupt Beat, Heim, Markus H, Jérôme Gouttenoire (235184), Jean-François Dufour (5654965) +127 morecore +1 more source
