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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Among authors: maher er. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA. Morgan NV, et al. Among authors: maher er. Hum Genet. 2002 Oct;111(4-5):456-61. doi: 10.1007/s00439-002-0817-0. Epub 2002 Sep 7. Hum Genet. 2002. PMID: 12384791 Free article.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER. Gissen P, et al. Among authors: maher er. Nat Genet. 2004 Apr;36(4):400-4. doi: 10.1038/ng1325. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052268
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
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, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Aligianis IA, et al. Among authors: maher er. Nat Genet. 2005 Mar;37(3):221-3. doi: 10.1038/ng1517. Nat Genet. 2005. PMID: 15696165
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH 2nd, Harris PC, Johnson CA. Smith UM, et al. Among authors: maher er. Nat Genet. 2006 Feb;38(2):191-6. doi: 10.1038/ng1713. Epub 2006 Jan 15. Nat Genet. 2006. PMID: 16415887
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. Morgan NV, et al. Among authors: maher er. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18. Nat Genet. 2006. PMID: 16783378 Free PMC article.
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER, Gissen P. Cullinane AR, et al. Among authors: maher er. Hum Mutat. 2009 Feb;30(2):E330-7. doi: 10.1002/humu.20900. Hum Mutat. 2009. PMID: 18853461 Free PMC article.
594 results