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Targeted disruption of Tbc1d20with zinc-finger nucleases causes cataracts and testicular abnormalities in mice

  • Published:2014-12 Issue:1 Volume:15 Page:
  • ISSN:1471-2156
  • Container-title:BMC Genetics
  • language:en
  • Short-container-title:BMC Genet

Author:

Park Anna Kyunglim,Liegel Ryan P,Ronchetti Adam,Ebert Allison D,Geurts Aron,Sidjanin Duska J

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Jackson IJ, et al: Mutation spectrum in RAB3GAP1, RAB3GAP2 and RAB18 and genotype-phenotype correlations in Warburg micro syndrome and Martsolf syndrome. Hum Mutat. 2013, 34 (5): 686-696. 10.1002/humu.22296.

2. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Megarbane A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, et al: Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005, 37 (3): 221-223. 10.1038/ng1517.

3. Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C: A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet. 2011, 129 (1): 45-50. 10.1007/s00439-010-0896-2.

4. Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA: Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011, 88 (4): 499-507. 10.1016/j.ajhg.2011.03.012.

5. Liegel R, Handley M, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl D, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GMH, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ: Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013, 93: 1-14. 10.1016/j.ajhg.2013.10.011.

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