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Items: 1 to 20 of 120

1.

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.

de Jong S, Chepelev I, Janson E, Strengman E, van den Berg LH, Veldink JH, Ophoff RA.

BMC Genomics. 2012 Sep 6;13:458. doi: 10.1186/1471-2164-13-458.

2.

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype.

Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA.

Cytogenet Genome Res. 2010;129(4):275-9. doi: 10.1159/000315901. Epub 2010 Jul 6.

3.

Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy.

Ezquerra M, Pastor P, Gaig C, Vidal-Taboada JM, Cruchaga C, Muñoz E, Martí MJ, Valldeoriola F, Aguilar M, Calopa M, Hernandez-Vara J, Tolosa E.

Neurobiol Aging. 2011 Mar;32(3):547.e11-6. doi: 10.1016/j.neurobiolaging.2009.09.011. Epub 2009 Oct 29.

PMID:
19879020
4.

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration.

Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, Duckworth J, Leung D, Williams D, Kilford L, Thomas N, Morris CM, Dickson D, Wood NW, Hardy J, Lees AJ, de Silva R.

J Med Genet. 2005 Nov;42(11):837-46. Epub 2005 Mar 25.

5.

The structure of the tau haplotype in controls and in progressive supranuclear palsy.

Pittman AM, Myers AJ, Duckworth J, Bryden L, Hanson M, Abou-Sleiman P, Wood NW, Hardy J, Lees A, de Silva R.

Hum Mol Genet. 2004 Jun 15;13(12):1267-74. Epub 2004 Apr 28.

PMID:
15115761
6.

Novel haplotypes in 17q21 are associated with progressive supranuclear palsy.

Pastor P, Ezquerra M, Perez JC, Chakraverty S, Norton J, Racette BA, McKeel D, Perlmutter JS, Tolosa E, Goate AM.

Ann Neurol. 2004 Aug;56(2):249-58.

PMID:
15293277
7.

5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration.

Cruchaga C, Vidal-Taboada JM, Ezquerra M, Lorenzo E, Martinez-Lage P, Blazquez M, Tolosa E; Iberian Atypical Parkinsonism Study Group Researchers, Pastor P.

Neurobiol Dis. 2009 Feb;33(2):164-70. doi: 10.1016/j.nbd.2008.09.027. Epub 2008 Nov 1.

PMID:
19022385
8.

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.

Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C.

Hum Mol Genet. 2005 Jul 1;14(13):1753-62. Epub 2005 May 11.

PMID:
15888485
9.

Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders.

Webb A, Miller B, Bonasera S, Boxer A, Karydas A, Wilhelmsen KC.

Arch Neurol. 2008 Nov;65(11):1473-8. doi: 10.1001/archneur.65.11.1473.

10.

Haplotype-specific expression of exon 10 at the human MAPT locus.

Caffrey TM, Joachim C, Paracchini S, Esiri MM, Wade-Martins R.

Hum Mol Genet. 2006 Dec 15;15(24):3529-37. Epub 2006 Nov 3.

PMID:
17085483
11.

Using the neanderthal and denisova genetic data to understand the common MAPT 17q21 inversion in modern humans.

Setó-Salvia N, Sánchez-Quinto F, Carbonell E, Lorenzo C, Comas D, Clarimón J.

Hum Biol. 2012 Dec;84(6):633-40.

PMID:
23959642
12.

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.

Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH.

Neurology. 2008 Jul 1;71(1):28-34. doi: 10.1212/01.wnl.0000304051.01650.23. Epub 2008 May 28.

13.

From 1997 to 2007: a decade journey through the H1 haplotype on 17q21 chromosome.

Kalinderi K, Fidani L, Bostantjopoulou S.

Parkinsonism Relat Disord. 2009 Jan;15(1):2-5. doi: 10.1016/j.parkreldis.2008.03.001. Epub 2008 Apr 18. Review.

PMID:
18424220
14.

Linkage disequilibrium and association of MAPT H1 in Parkinson disease.

Skipper L, Wilkes K, Toft M, Baker M, Lincoln S, Hulihan M, Ross OA, Hutton M, Aasly J, Farrer M.

Am J Hum Genet. 2004 Oct;75(4):669-77. Epub 2004 Aug 3.

15.

Evolutionary toggling of the MAPT 17q21.31 inversion region.

Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L, Wallis J, Glasscock J, Wilson RK, Reily AD, Duckworth J, Ventura M, Hardy J, Warren WC, Eichler EE.

Nat Genet. 2008 Sep;40(9):1076-83. doi: 10.1038/ng.193.

16.

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease.

Vandrovcova J, Pittman AM, Malzer E, Abou-Sleiman PM, Lees AJ, Wood NW, de Silva R.

Neurobiol Aging. 2009 Sep;30(9):1477-82. Epub 2007 Dec 26.

PMID:
18162161
17.

Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease.

Zabetian CP, Hutter CM, Factor SA, Nutt JG, Higgins DS, Griffith A, Roberts JW, Leis BC, Kay DM, Yearout D, Montimurro JS, Edwards KL, Samii A, Payami H.

Ann Neurol. 2007 Aug;62(2):137-44.

18.

Association of the MAPT locus with Parkinson's disease.

Wider C, Vilariño-Güell C, Jasinska-Myga B, Heckman MG, Soto-Ortolaza AI, Cobb SA, Aasly JO, Gibson JM, Lynch T, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA.

Eur J Neurol. 2010 Mar;17(3):483-6. doi: 10.1111/j.1468-1331.2009.02847.x. Epub 2009 Nov 12.

19.

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.

Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, Bel Kacem S, Adamson J, Van den Bossche D, Van den Broeck M, Gass J, Corsmit E, De Rijk P, Thomas N, Engelborghs S, Heckman M, Litvan I, Crook J, De Deyn PP, Dickson D, Schellenberg GD, Van Broeckhoven C, Hutton ML.

Hum Mol Genet. 2005 Nov 1;14(21):3281-92. Epub 2005 Sep 29.

PMID:
16195395
20.

An association study of common variation at the MAPT locus with late-onset Alzheimer's disease.

Abraham R, Sims R, Carroll L, Hollingworth P, O'Donovan MC, Williams J, Owen MJ.

Am J Med Genet B Neuropsychiatr Genet. 2009 Dec 5;150B(8):1152-5. doi: 10.1002/ajmg.b.30951.

PMID:
19308965

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