Výsledky vyhledávání

Germline selection shapes human mitochondrial DNA diversity

Autor: Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, Attwood, A, Brown, M, Brod, NC, Crisp-Hihn, A, Davis, J, Deevi, SVV, Dewhurst, EF, Edwards, K, Erwood, M, Fox, J, Frary, AJ, Hu, F, Jolley, J, Kingston, N, Linger, R, Mapeta, R, Martin, J, Meacham, S, Papadia, S, Rayner-Matthews, PJ, Samarghitean, C, Shamardina, O, Simeoni, I, Staines, S, Staples, E, Stark, H, Stephens, J, Titterton, C, Von Ziegenweidt, J, Watt, C, Whitehorn, D, Wood, Y, Yates, K, Yu, P, James, R, Ashford, S, Penkett, CJ, Stirrups, KE, Bariana, T, Lentaigne, C, Sivapalaratnam, S, Westbury, SK, Allsup, DJ, Bakchoul, T, Biss, T, Boyce, S, Collins, J, Collins, PW, Curry, NS, Downes, K, Dutt, T, Erber, WN, Evans, G, Everington, T, Favier, R, Gomez, K, Greene, D, Gresele, P, Hart, D, Kazmi, R, Kelly, AM, Lambert, M, Madan, B, Mangles, S, Mathias, M, Millar, C, Obaji, S, Peerlinck, K, Roughley, C, Schulman, S, Scully, M, Shapiro, SE, Sibson, K, Sims, MC, Tait, RC, Talks, K, Thys, C, Toh, C-H, Van Geet, C, Westwood, J-P, Mumford, AD, Ouwehand, WH, Freson, K, Laffan, MA, Tan, RYY, Harkness, K, Mehta, S, Muir, KW, Hassan, A, Traylor, M, Drazyk, AM, Parry, D, Ahmed, M, Kazkaz, H, Vandersteen, AM, Ormondroyd, E, Thomson, K, Dent, T, Buchan, RJ, Bueser, T, Carr-White, G, Cook, S, Daniels, MJ, Harper, AR, Ware, JS, Dixon, PH, Chambers, J, Cheng, F, Estiu, MC, Hague, WM, Marschall, H-U, Vazquez-Lopez, M, Arno, G, French, CE, Michaelides, M, Moore, AT, Sanchis-Juan, A, Carss, K, Raymond, FL, Chinnery, PF, Griffiths, P, Horvath, R, Hudson, G, Jurkute, N, Pyle, A, Yu-Wai-Man, P, Whitworth, J, Adlard, J, Armstrong, R, Brewer, C, Casey, R, Cole, TRP, Evans, DG, Greenhalgh, L, Hanson, HL, Hoffman, J, Izatt, L, Kumar, A, Lalloo, F, Ong, KR, Park, S-M, Searle, C, Side, L, Snape, K, Woodward, E, Tischkowitz, M, Grozeva, D, Kurian, MA, Themistocleous, AC, Gosal, D, Marshall, A, Matthews, E, McCarthy, MI, Renton, T, Rice, ASC, Vale, T, Walker, SM, Woods, CG, Thaventhiran, JE, Allen, HL, Savic, S, Alachkar, H, Antrobus, R, Baxendale, HE, Browning, MJ, Buckland, MS, Cooper, N, Edgar, JDM, Egner, W, Gilmour, KC, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Hayman, G, Herwadkar, A, Huissoon, AP, Jolles, S, Kelleher, P, Kumararatne, D, Longhurst, H, Lorenzo, LE, Lyons, PA, Maimaris, J, Noorani, S, Richter, A, Sargur, RB, Sewell, WAC, Thomas, D, Thomas, MJ, Worth, A, Yong, PFK, Kuijpers, TW, Thrasher, AJ, Levine, AP, Sadeghi-Alavijeh, O, Wong, EKS, Cook, HT, Chan, MMY, Hall, M, Harris, C, McAlinden, P, Marchbank, KJ, Marks, S, Maxwell, H, Mozere, M, Wessels, J, Johnson, SA, Bleda, M, Hadinnapola, C, Haimel, M, Swietlik, E, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P, Danesino, C, Eyries, M, Gall, H, Ghofrani, H-A, Gibbs, JSR, Girerd, B, Holden, S, Houweling, A, Howard, LS, Humbert, M, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, A, Pepke-Zaba, J, Scelsi, L, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, M, Treacy, C, Trembath, R, Noordegraaf, AV, Waisfisz, Q, Wharton, J, Wilkins, MR, Wort, SJ, Graf, S, Louka, E, Roy, NB, Rao, A, Ancliff, P, Babbs, C, Layton, DM, Mead, AJ, O'Sullivan, J, Okoli, S, Saleem, M, Bierzynska, A, Diz, CB, Colby, E, Ekani, MN, Satchell, S, Fowler, T, Rendon, A, Scott, R, Smedley, D, Thomas, E, Caulfield, M, Abbs, S, Burrows, N, Chitre, M, Gattens, M, Gurnell, M, Kelsall, W, Poole, KES, Ross-Russell, R, Spasic-Boskovic, O, Twiss, P, Wagner, A, Banka, S, Clayton-Smith, J, Douzgou, S, Abulhoul, L, Aurora, P, Bockenhauer, D, Cleary, M, Dattani, M, Ganesan, V, Pilkington, C, Rahman, S, Shah, N, Wedderburn, L, Compton, CJ, Deshpande, C, Fassihi, H, Haque, E, Josifova, D, Mohammed, SN, Robert, L, Rose, SJ, Ruddy, DM, Sarkany, RN, Sayer, G, Shaw, AC, Campbell, C, Gibson, K, Koelling, N, Lester, T, Nemeth, AH, Palles, C, Patel, S, Sen, A, Taylor, J, Tomlinson, IP, Malka, S, Browning, AC, Burn, J, De Soyza, A, Graham, J, Pearce, S, Quinton, R, Schaefer, AM, Wilson, BT, Wright, M, Simpson, M, Syrris, P, Bradley, JR, Turro, E

Publikováno v: NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot & Daniels, M J 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science (New York, N.Y.), vol. 364, no. 6442 . https://doi.org/10.1126/science.aau6520
Science, 364(6442). American Association for the Advancement of Science
Science
Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520

INTRODUCTION Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to geographic differences in the frequency of common genetic variants, but population g

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An ontological foundation for ocular phenotypes and rare eye diseases

Autor: Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélèneashworth, Jl, Audo, I, Balciuniene, Vj, Banin, E, Black, Gc, Böhringer, D, Boon, Cjf, Bremond-Gignac, D, Calvas, P, Castela, G, Dagnelie, G, Dollfus, H, Downes, Sm, Fasolo, A, Fasser, C, Gelzinis, A, Goetz, K, Hamann, S, Héon, E, Iarossi, G, Kawasaki, A, Keegan, D, Kessel, L, Khan, K, Klett, A, Köhler, S, Leroux, D, Leroy, Bp, Lisch, W, Liskova, P, Lorenz, B, Maggi, R, Maxime, E, Meunier, I, Mohand-Said, S, Nowomiejska, K, Perdomo, Y, Petzold, A, Preising, M, Robinson, Pn, Scholl, Hpn, Sergouniotis, Pi, Sodi, A, Stingl, K, Studer, F, Suppiej, A, Thompson, R, Touitou, V, Traboulsi, E, Trumpaitis, J, Tuft, Sj, Vaclavik, V, Valeina, S, Van Cauwenbergh, C, Verloes, A, Vighetto, A, Wheeler, R, Wheeler-Schilling, T, Yu-Wai-Man, P, Zobor, D, Zrenner, E.

Publikováno v: ERN-EYE Ontology Study Group 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 8 . https://doi.org/10.1186/s13023-018-0980-6
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14
Orphanet Journal of Rare Diseases, 2019, 14 (8), pp.1-5. ⟨10.1186/s13023-018-0980-6⟩
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Sergouniotis, P I, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, P N, Dollfus, H, ERN-EYE Ontology Study Group, Ashworth, J L, Audo, I, Balciuniene, V J, Hamann, S, Kessel, L, Yu-Wai-Man, P, Zobor, D & Zrenner, E 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, 8 . https://doi.org/10.1186/s13023-018-0980-6

Background The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840fa6905fa94a0e7ca88a0762068559
https://doi.org/10.1186/s13023-018-0980-6

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Functional analysis of a novel homeodomain missense mutation that abrogates HMX1 protein function; confirming the molecular basis of oculo- auricular syndrome

Autor: 1. Gillespie RL Urquhart J Lovell SC Schorderet DF Lloyd IC Clayton-Smith J Black GC.

Publikováno v: Invest. Ophthalmol Vis Sci

PURPOSE: To define the phenotypic manifestation confirm the genetic basis and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS: Two individuals from a consanguineous family underwent comprehensive clinical phen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=snsf_p3_pubs::1450839a16c10f8d076f7254a188f7dd

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Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::0f1bb0f1e78f5cf654ea8e5950fe3993
https://eprints.whiterose.ac.uk/113605/7/jamaophthalmology_Taylor_2017_oi_170004.pdf

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Spoken Papers: S01. The Microcephaly Mystery: Complications of disease gene identification in a consanguineous population

Autor: Casey, JP, Murphy, H, Ennis, S, Lynch, SA, Bradley, L, Mabrouk, R, Paterson, A, McAuley, D, Dabir, T, Dobson, MG, Darlow, JM, Darlay, R, Cordell, HJ, Green, AJ, Puri, P, Barton, DE, McCormack, M, Chaila, E, Shawan, A, Conroy, J, Heinzen, E, Goldstein, DB, Delanty, N, Caldecott, K, Cavalleri, GL, McConnell, VPM, Fitzpatrick, DJ, Shah, N, Ryan, CJ, Greene, D, Shields, DC, Courtney, DG, Atkinson, SD, Allen, EHA, Moore, JE, Maurizi, E, Pellegrini, G, Black, GC, Mason, FD, Yam, G, McLean, WHI, Moore, CBT, McKay, GJ, Kavanagh, DH, Maxwell, AP, O’Neill, KM, Walsh, CP, Anney, R, Ning, Z., O’Keeffe, G, Moore, T, Magee, AC, Stewart, FJ, Muir, A, McOsker, J, Jardine, T, Wilson, A, McKeown, P, McKay, L, Scala, S, Winship, I, Jeffers, L, Thornton, C, Morrison, PJ, Ward, A, Turner, J, Byrne, M, Casey, J, J Toner, G, Harrison, A, Pentieva, K, McNulty, H, Parle-McDermott, A, MacEwen, CJ, Ozaki, M., Parle-McDermott, A., Cattell, N, Duffy, S, McKnight, AJ, Heagerty, AHM, Leigh, IM, Pourreyron, C, Szeverenyi, I, Smith, FJ, Swan, EJ, Smyth, LJ, Kilner, J, Connolly, S, Heron, E, Fahey, C, Byrne, S, McLaughlin, R, Kenna, K, Bradley, D G, Gill, M, Hardiman, O, Corvin, AP, Morris, DW, Evenepoel, L

Publikováno v: The Ulster Medical Journal

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http://europepmc.org/articles/PMC3913417

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Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6

Publikováno v: The American journal of human genetics
Ratbi, I, Falkenberg, K D, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, J, Chandler, K E, Williams, S, Roberts, N, El Alloussi, M, Black, G, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S-A, Cooper, N, Ong, K R, Smith, C E L, Inglehearn, C F, Mighell, A J, Elcock, C, Poulter, J A, Tischkowitz, M, Davies, S J, Sefiani, A, Mironov, A, Newman, W, Waterham, H R & Van Camp, G 2015, ' Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ', American Journal of Human Genetics, vol. 97, no. 4, pp. 535-545 . https://doi.org/10.1016/j.ajhg.2015.08.011
American journal of human genetics, 97(4), 535-545. Cell Press

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities and occasional or late onset retinal pigmentation. We ascertained eight families with HS, and - using a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7c7cfdea4a0813b99967b331b96a330c
https://hdl.handle.net/10067/1287660151162165141

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Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome

Autor: Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC

Publikováno v: ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Background: Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both tra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7f7af312796403bf5bda4c5675ce29b4
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2255

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