High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Autor: Shoemark, A, Moya, E, Hirst, RA, Patel, MP, Robson, EA, Hayward, J, Scully, J, Fassad, MR, Lamb, W, Schmidts, M, Dixon, M, Patel-King, RS, Rogers, AV, Rutman, A, Jackson, CL, Goggin, P, Rubbo, B, Ollosson, S, Carr, S, Walker, W, Adler, B, Loebinger, MR, Wilson, R, Bush, A, Williams, H, Boustred, C, Jenkins, L, Sheridan, E, Chung, EMK, Watson, CM, Cullup, T, Lucas, JS, Kenia, P, O’Callaghan, C, King, SM, Hogg, C, Mitchison, HM

Rationale Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::191a9da350332b1bfc465837cb943101
https://eprints.whiterose.ac.uk/146744/1/nihms931245.pdf

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Autor: Wheway, G, Schmidts, M, Mans, DA, Szymanska, K, Nguyen, TT, Racher, H, Phelps, IG, Toedt, G, Kennedy, J, Wunderlich, KA, Sorusch, N, Abdelhamed, ZA, Natarajan, S, Herridge, W, van Reeuwijk, J, Horn, N, Boldt, K, Parry, DA, Letteboer, SJ, Roosing, S, Adams, M, Bell, SM, Bond, J, Higgins, J, Morrison, EE, Tomlinson, DC, Slaats, GG, van Dam, TJ, Huang, L, Kessler, K, Giessl, A, Logan, CV, Boyle, EA, Shendure, J, Anazi, S, Aldahmesh, M, Al Hazzaa, S, Hegele, RA, Ober, C, Frosk, P, Mhanni, AA, Chodirker, BN, Chudley, AE, Lamont, R, Bernier, FP, Beaulieu, CL, Gordon, P, Pon, RT, Donahue, C, Barkovich, AJ, Wolf, L, Toomes, C, Thiel, CT, Boycott, KM, McKibbin, M, Inglehearn, CF, UK10K Consortium, University ofWashington Center forMendelian Genomics, Stewart, F, Omran, H, Huynen, MA, Sergouniotis, PI, Alkuraya, FS, Parboosingh, JS, Innes, AM, Willoughby, CE, Giles, RH, Webster, AR, Ueffing, M, Blacque, O, Gleeson, JG, Wolfrum, U, Beales, PL, Gibson, T, Doherty, D, Mitchison, HM, Roepman, R, Johnson, CA

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a globa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::98293f0999c69ed9d20eac332c60a6ef

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Autor: Huang, J, Howie, B, Mccarthy, S, Memari, Y, Walter, K, Min, Jl, Danecek, P, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hf, Gambaro, G, Richards, Jb, Durbin, R, Timpson, Nj, Marchini, J, Soranzo, N, Al Turki, S, Amuzu, A, Anderson, Ca, Anney, R, Antony, D, Artigas, Ms, Ayub, M, Bala, S, Barrett, Jc, Barroso, I, Beales, P, Benn, M, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, Pf, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Casas, Jp, Chambers, Jc, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, Da, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Day, In, Day Williams, A, Dedoussis, G, Down, T, Du, Y, van Duijn, Cm, Dunham, I, Edkins, S, Ekong, R, Ellis, P, Evans, Dm, Farooqi, Is, Fitzpatrick, Dr, Flicek, P, Floyd, J, Foley, Ar, Franklin, Cs, Futema, M, Gallagher, L, Gasparini, P, Gaunt, Tr, Geihs, M, Geschwind, D, Greenwood, C, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, Ae, Holmans, P, Huang, L, Hubbard, T, Humphries, Se, Hurles, Me, Hysi, P, Iotchkova, V, Isaacs, A, Jackson, Dk, Jamshidi, Y, Johnson, J, Joyce, C, Karczewski, Kj, Kaye, J, Keane, T, Kemp, Jp, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, Kleber, Me, van Kogelenberg, M, Kolb Kokocinski, A, Kooner, Js, Lachance, G, Langenberg, C, Langford, C, Lawson, D, Lee, I, van Leeuwen, Em, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lönnqvist, J, Lopes, Lr, Lopes, M, Luan, J, Macarthur, Dg, Mangino, M, Marenne, G, März, W, Maslen, J, Matchan, A, Mathieson, I, Mcguffin, P, Mcintosh, Am, Mckechanie, Ag, Mcquillin, A, Metrustry, S, Migone, N, Mitchison, Hm, Moayyeri, A, Morris, J, Morris, R, Muddyman, D, Muntoni, F, Nordestgaard, Bg, Northstone, K, O'Donovan, Mc, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, Mj, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, Jr, Paternoster, L, Paunio, T, Payne, F, Payne, Sj, Perry, Jr, Pietilainen, O, Plagnol, V, Pollitt, Rc, Povey, S, Quail, Ma, Quaye, L, Raymond, L, Rehnström, K, Ridout, Ck, Ring, S, Ritchie, Gr, Roberts, N, Robinson, Rl, Savage, Db, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, Rh, Scott, Ra, Semple, Rk, Serra, E, Sharp, Si, Shaw, A, Shihab, Ha, Shin, Sy, Skuse, D, Small, Ks, Smee, C, Smith, Gd, Southam, L, Spasic Boskovic, O, Spector, Td, St Clair, D, St Pourcain, B, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Tachmazidou, I, Taylor, R, Tian, J, Tobin, Md, Toniolo, D, Traglia, M, Tybjaerg Hansen, A, Valdes, Am, Vandersteen, Am, Varbo, A, Vijayarangakannan, P, Visscher, Pm, Wain, Lv, Walters, Jt, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whincup, P, Whyte, T, Williams, Hj, Williamson, Ka, Wilson, C, Wilson, Sg, Wong, K, Xu, C, Yang, J, Zaza, Gianluigi, Zeggini, E, Zhang, F, Zhang, P, Zhang, W.

Publikováno v: Nature Communications, 6, 8111
Nature Communications, 6, pp. 8111
Nature Communications
Huang, J, Howie, B, McCarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H-F, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J & Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, pp. 8111 . https://doi.org/10.1038/ncomms9111
Huang, J, Howie, B, Mccarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H, Al Turki, S, Amuzu, A, Anderson, C A, Anney, R, Antony, D, Artigas, M S, Ayub, M, Bala, S, Barrett, J C, Barroso, I, Beales, P, Benn, M, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, P F, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Pablo Casas, J, Chambers, J C, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, D A, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Day, I N M, Day-williams, A, Dedoussis, G, Down, T, Du, Y, Van Duijn, C M, Dunham, I, Edkins, S, Ekong, R, Ellis, P, Evans, D M, Farooqi, I S, Fitzpatrick, D R, Flicek, P, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Gallagher, L, Gasparini, P, Gaunt, T R, Geihs, M, Geschwind, D, Greenwood, C, Griffin, H, Grozeva, D, Guo, X, Guo, X, Gurling, H, Hart, D, Hendricks, A E, Holmans, P, Huang, L, Hubbard, T, Humphries, S E, Hurles, M E, Hysi, P, Iotchkova, V, Isaacs, A, Jackson, D K, Jamshidi, Y, Johnson, J, Joyce, C, Karczewski, K J, Kaye, J, Keane, T, Kemp, J P, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, Kleber, M E, Van Kogelenberg, M, Kolb-kokocinski, A, Kooner, J S, Lachance, G, Langenberg, C, Langford, C, Lawson, D, Lee, I, Van Leeuwen, E M, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lönnqvist, J, Lopes, L R, Lopes, M, Luan, J, Macarthur, D G, Mangino, M, Marenne, G, März, W, Maslen, J, Matchan, A, Mathieson, I, Mcguffin, P, Mcintosh, A M, Mckechanie, A G, Mcquillin, A, Metrustry, S, Migone, N, Mitchison, H M, Moayyeri, A, Morris, J, Morris, R, Muddyman, D, Muntoni, F, Nordestgaard, B, Northstone, K, O'donovan, M C, O'rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, M J, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, J R, Paternoster, L, Paunio, T, Payne, F, Payne, S J, Perry, J R B, Pietilainen, O, Plagnol, V, Pollitt, R C, Povey, S, Quail, M A, Quaye, L, Raymond, L, Rehnström, K, Ridout, C K, Ring, S, Ritchie, G R S, Roberts, N, Robinson, R L, Savage, D B, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, R H, Scott, R A, Semple, R K, Serra, E, Sharp, S I, Shaw, A, Shihab, H A, Shin, S, Skuse, D, Small, K S, Smee, C, Smith, G D, Southam, L, Spasic-boskovic, O, Spector, T D, St Clair, D, St Pourcain, B, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Tachmazidou, I, Taylor, R, Tian, J, Tobin, M D, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, Valdes, A M, Vandersteen, A M, Varbo, A, Vijayarangakannan, P, Visscher, P M, Wain, L V, Walters, J T R, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whincup, P, Whyte, T, Williams, H J, Williamson, K A, Wilson, C, Wilson, S G, Wong, K, Xu, C, Yang, J, Zaza, G, Zeggini, E, Zhang, F, Zhang, P, Zhang, W, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J, Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, 8111 . https://doi.org/10.1038/ncomms9111

Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f95b9da2183aba8a33d77fef6e097ebb
http://hdl.handle.net/2066/153109

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.