Notch3-Pin1 crosstalk in ovarian cancer: from molecular mechanism dissection to therapeutic application

Autor: Giuli, Mv, Giuliani, E, Mancusi, A, Franciosa, G, Olsen, Jv, Screpanti, I, Checquolo, S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::ae2c21d7cb2b7d202785e5366e43db64
http://hdl.handle.net/11573/1344900

Truncated SALL1 impedes primary cilia function in Townes-Brocks Syndrome

Autor: Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurdsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodríguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R

Townes-Brocks syndrome (TBS) is characterized by a spectrum of malformations in the digits, ears, and kidneys. These anomalies overlap those seen in a growing number of ciliopathies, which are genetic syndromes linked to defects in the formation or f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2659::29d1bbd071e4ac97bb9f14cc0ff209a3
https://zenodo.org/record/2640486

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

Autor: den Hoed, M, Eijgelsheim, M, Esko, T, Brundel, Bj, Peal, Ds, Evans, Dm, Nolte, Im, Segrè, Av, Holm, H, Handsaker, Re, Westra, Hj, Johnson, T, Isaacs, A, Yang, J, Lundby, A, Zhao, Jh, Kim, Yj, Go, Mj, Almgren, P, Bochud, M, Boucher, G, Cornelis, Mc, Gudbjartsson, D, Hadley, D, van der Harst, P, Hayward, C, den Heijer, M, Igl, W, Jackson, Au, Kutalik, Z, Luan, J, Kemp, Jp, Kristiansson, K, Ladenvall, C, Lorentzon, M, Montasser, Me, Njajou, Ot, O'Reilly, Pf, Padmanabhan, S, St Pourcain, B, Rankinen, T, Salo, P, Tanaka, T, Timpson, Nj, Vitart, V, Waite, L, Wheeler, W, Zhang, W, Draisma, Hh, Feitosa, Mf, Kerr, Kf, Lind, Pa, Mihailov, E, Onland Moret NC, Song, C, Weedon, Mn, Xie, W, Yengo, L, Absher, D, Albert, Cm, Alonso, A, Arking, De, de Bakker PI, Balkau, B, Barlassina, C, Benaglio, P, Bis, Jc, Bouatia Naji, N, Brage, S, Chanock, Sj, Chines, Ps, Chung, M, Darbar, D, Dina, C, Dörr, M, Elliott, P, Felix, Sb, Fischer, K, Fuchsberger, C, de Geus EJ, Goyette, P, Gudnason, V, Harris, Tb, Hartikainen, Al, Havulinna, As, Heckbert, Sr, Hicks, Aa, Hofman, A, Holewijn, S, Hoogstra Berends, F, Hottenga, Jj, Jensen, Mk, Johansson, A, Junttila, J, Kääb, S, Kanon, B, Ketkar, S, Khaw, Kt, Knowles, Jw, Kooner, As, Kors, Ja, Kumari, M, Milani, L, Laiho, P, Lakatta, Eg, Langenberg, C, Leusink, M, Liu, Y, Luben, Rn, Lunetta, Kl, Lynch, Sn, Markus, Mr, Marques Vidal, P, Mateo Leach, I, Mcardle, Wl, Mccarroll, Sa, Medland, Se, Miller, Ka, Montgomery, Gw, Morrison, Ac, Müller Nurasyid, M, Navarro, P, Nelis, M, O'Connell, Jr, O'Donnell, Cj, Ong, Kk, Newman, Ab, Peters, A, Polasek, O, Pouta, A, Pramstaller, Pp, Psaty, Bm, Rao, Dc, Ring, Sm, Rossin, Ej, Rudan, D, Sanna, S, Scott, Ra, Sehmi, Js, Sharp, S, Shin, Jt, Singleton, Ab, Smith, Av, Soranzo, N, Spector, Td, Stewart, C, Stringham, Hm, Tarasov, Kv, Uitterlinden, Ag, Vandenput, L, Hwang, Sj, Whitfield, Jb, Wijmenga, C, Wild, Sh, Willemsen, G, Wilson, Jf, Witteman, Jc, Wong, A, Wong, Q, Jamshidi, Y, Zitting, P, Boer, Jm, Boomsma, Di, Borecki, Ib, van Duijn CM, Ekelund, U, Forouhi, Ng, Froguel, P, Hingorani, A, Ingelsson, E, Kivimaki, M, Kronmal, Ra, Kuh, D, Lind, L, Martin, Ng, Oostra, Ba, Pedersen, Nl, Quertermous, T, Rotter, Ji, van der Schouw YT, Verschuren, Wm, Walker, M, Albanes, D, Arnar, Do, Assimes, Tl, Bandinelli, S, Boehnke, M, de Boer RA, Bouchard, C, Caulfield, Wl, Chambers, Jc, Curhan, G, Cusi, D, Eriksson, J, Ferrucci, L, van Gilst WH, Glorioso, N, de Graaf, J, Groop, L, Gyllensten, U, Hsueh, Wc, Hu, Fb, Huikuri, Hv, Hunter, Dj, Iribarren, C, Isomaa, B, Jarvelin, Mr, Jula, A, Kähönen, M, Kiemeney, La, van der Klauw MM, Kooner, Js, Kraft, P, Iacoviello, Licia, Lehtimäki, T, Lokki, Ml, Mitchell, Bd, Navis, G, Nieminen, Ms, Ohlsson, C, Poulter, Nr, Qi, L, Raitakari, Ot, Rimm, Eb, Rioux, Jd, Rizzi, F, Rudan, I, Salomaa, V, Sever, Ps, Shields, Dc, Shuldiner, Ar, Sinisalo, J, Stanton, Av, Stolk, Rp, Strachan, Dp, Tardif, Jc, Thorsteinsdottir, U, Tuomilehto, J, van Veldhuisen DJ, Virtamo, J, Viikari, J, Vollenweider, P, Waeber, G, Widen, E, Cho, Ys, Olsen, Jv, Visscher, Pm, Willer, C, Franke, L, Global BPgen Consortium, Cardiogram, Consortium, Erdmann, J, Thompson, Jr, PR GWAS Consortium, Pfeufer, A, QRS GWAS Consortium, Sotoodehnia, N, QT IGC Consortium, Newton Cheh, C, CHARGE AF Consortium, Ellinor, Pt, Stricker, Bh, Metspalu, A, Perola, M, Beckmann, Js, Smith, Gd, Stefansson, K, Wareham, Nj, Munroe, Pb, Sibon, Oc, Milan, Dj, Snieder, H, Samani, Nj, Loos, R. J.

Publikováno v: den Hoed, M, Eijgelsheim, M, Esko, T, Brundel, B J J M, Peal, D S, Evans, D M, Nolte, I M, Segrè, A V, Holm, H, Handsaker, R E, Westra, H-J, Johnson, T, Isaacs, A, Yang, J, Lundby, A, Zhao, J H, Kim, Y J, Go, M J, Almgren, P, Bochud, M, Boucher, G, Cornelis, M C, Gudbjartsson, D, Hadley, D, van der Harst, P, Hayward, C, den Heijer, M, Igl, W, Jackson, A U, Kutalik, Z, Luan, J, Kemp, J P, Kristiansson, K, Ladenvall, C, Lorentzon, M, Montasser, M E, Njajou, O T, O'Reilly, P F, Padmanabhan, S, St Pourcain, B, Rankinen, T, Salo, P, Tanaka, T, Timpson, N J, Vitart, V, Navarro, P, Polasek, O, Wild, S H & Wilson, J F & Rudan, I 2013, ' Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders ', Nature Genetics, vol. 45, no. 6, pp. 621-. https://doi.org/10.1038/ng.2610
Nature Genetics, vol. 45, no. 6, pp. 621-631
Nature Genetics, 45(6), 621-631. Nature Publishing Group
Nature Genetics, 45(6), 621-31. Nature Publishing Group
Nature Genetics, 45, 621-31
Nature Genetics, 45(6), 621-+. Nature Publishing Group
Nature Genetics, 45, 6, pp. 621-31
den Hoed, M A H, Eijgelsheim, M, Esko, T, Brundel, B J, Peal, D S, Evans, D M, Nolte, I M, Segrè, A V, Holm, H, Handsaker, R E, Westra, H J, Johnson, T, Isaacs, A, Yang, L, Lundby, A, Zhao, J H, Kim, Y J, Go, M J, Almgren, P, Bochud, M, Boucher, G, Cornelis, M C, Gudbjartsson, D F, Hadley, D, van der Harst, P, Hayward, C, den Heijer, M, Igl, W, Jackson, A U, Kutalik, Z, Luan, J, Kemp, J P, Kristiansson, K, Ladenvall, C, Lorentzon, M, Montasser, M E, Njajou, O T, O'Reilly, P F, Padmanabhan, S, St Pourcain, B, Rankinen, T, Salo, P, Tanaka, T, Timpson, N J, Vitart, V, Waite, L, Wheeler, W, Zhang, W, Draisma, H H M, Feitosa, M F, Kerr, K F, Lind, P A, Mihailov, E, Onland-Moret, N C, Song, C, Weedon, M N, Xie, W, Yengo, L, Absher, D, Albert, C M, Alonso, A, Arking, D E, de Bakker, P I, Balkau, B, Barlassina, C, Benaglio, P, Bis, J C, Bouatia-Naji, N, Brage, S, Chanock, S J, Chines, P S, Chung, M, Darbar, D, Dina, C, Dörr, M, Elliott, P, Felix, S B, Fischer, K, Fuchsberger, C, de Geus, E J C, Goyette, P, Gudnason, V, Harris, T B, Hartikainen, A L, Havulinna, A S, Heckbert, S R, Hicks, A A, Hofman, A, Holewijn, S, Hoogstra-Berends, F, Hottenga, J J, Jensen, M K, Johansson, A, Junttila, J, Kääb, S, Kanon, B, Ketkar, S, Khaw, K T, Knowles, J W, Kooner, A S, Kors, J A, Kumari, M, Milani, L, Laiho, P, Lakatta, E G, Langenberg, C, Leusink, M, Liu, Y, Luben, R N, Lunetta, K L, Lynch, S N, Markus, M R, Marques-Vidal, P, Mateo Leach, I, McArdle, W L, McCarroll, S A, Medland, S E, Miller, K A, Montgomery, G W, Morrison, A C, Müller-Nurasyid, M, Navarro, P, Nelis, M, O'Connell, J R, O'Donnell, C J, Ong, K K, Newman, A B, Peters, A, Polasek, O, Pouta, A, Pramstaller, P P, Psaty, B M, Rao, D C, Ring, S M, Rossin, E J, Rudan, D, Sanna, S, Scott, R A, Sehmi, J S, Sharp, S, Shin, J T, Singleton, A B, Smith, A V, Soranzo, N, Spector, T D, Stewart, C, Stringham, H M, Tarasov, K V, Uitterlinden, A G, Vandenput, L, Hwang, S J, Whitfield, J B, Wijmenga, C, Wild, S H, Willemsen, G, Wilson, J F, Witteman, J C, Wong, A, Wong, Q, Jamshidi, Y, Zitting, P, Boer, J M, Boomsma, D I, Borecki, I B, van Duijn, C M, Ekelund, U, Forouhi, N G, Froguel, P, Hingorani, A D, Ingelsson, E, Kivimaki, M, Kronmal, R A, Kuh, D, Lind, L, Martin, N G, Oostra, B A, Pedersen, N L, Quertermous, T, Rotter, J I, van der Schouw, Y T, Verschuren, W M, Walker, M, Albanes, D, Arnar, D O, Assimes, T L, Bandinelli, S, Boehnke, M, de Boer, R A, Bouchard, C, Caulfield, W L, Chambers, J C, Curhan, G, Cusi, D, Eriksson, J, Ferrucci, L, van Gilst, W H, Glorioso, N, de Graaf, J, Groop, L, Gyllensten, U, Hsueh, W C, Hu, F B, Huikuri, H V, Hunter, D J, Iribarren, C, Isomaa, B, Järvelin, M R, Jula, A, Kähönen, M, Kiemeney, L A, van der Klauw, M M, Kooner, J S, Kraft, P, Iacoviello, L, Lehtimäki, T, Lokki, M L, Mitchell, B D, Navis, G, Nieminen, M S, Ohlsson, C, Poulter, N R, Qi, L, Raitakari, O T, Rimm, E B, Rioux, J D, Rizzi, F, Rudan, I, Salomaa, V, Sever, P S, Shields, D C, Shuldiner, A R, Sinisalo, J, Stanton, A V, Stolk, R P, Strachan, D P, Tardif, J C, Thorsteinsdottir, U, Tuomilehto, J, van Veldhuisen, D J, Virtamo, J, Viikari, J, Vollenweider, P, Waeber, G, Widen, E, Cho, Y S, Olsen, J V, Visscher, P M, Willer, C J, Franke, L, Erdmann, J, Thompson, J R, Pfeufer, A, Sotoodehnia, N, Newton-Cheh, C, Ellinor, P T, Stricker, B H C, Metspalu, A, Perola, M, Beckmann, J S, Smith, G D, Stefansson, K, Wareham, N J, Munroe, P B, Sibon, O C M, Milan, D J, Snieder, H, Samani, N J & Loos, R J 2013, ' Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders ', Nature Genetics, vol. 45, no. 6, pp. 621-631 . https://doi.org/10.1038/ng.2610
Nature Genetics

Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3f091499ff4331cd37912032e3ea160
https://acuresearchbank.acu.edu.au/item/85846/identification-of-heart-rate-associated-loci-and-their-effects-on-cardiac-conduction-and-rhythm-disorders

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