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Results: 1 to 20 of 85

PubMed Links for Books (Select 2410414)

1.

Mechanisms of trinucleotide repeat instability during human development.

McMurray CT.

Nat Rev Genet. 2010 Nov;11(11):786-99. doi: 10.1038/nrg2828. Review. Erratum in: Nat Rev Genet. 2010 Dec;11(12):886.

2.

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C, Fullston T, Gécz J.

Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. Review.

PMID:
20506206
3.

Polyglutamine diseases: where does toxicity come from? what is toxicity? where are we going?

Takahashi T, Katada S, Onodera O.

J Mol Cell Biol. 2010 Aug;2(4):180-91. doi: 10.1093/jmcb/mjq005. Epub 2010 Apr 21. Review.

4.

Roles of trinucleotide-repeat RNA in neurological disease and degeneration.

Li LB, Bonini NM.

Trends Neurosci. 2010 Jun;33(6):292-8. doi: 10.1016/j.tins.2010.03.004. Epub 2010 Apr 14. Review.

PMID:
20398949
5.

Repeat expansion disease: progress and puzzles in disease pathogenesis.

La Spada AR, Taylor JP.

Nat Rev Genet. 2010 Apr;11(4):247-58. doi: 10.1038/nrg2748. Review.

PMID:
20177426
6.

The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies.

Bauer PO, Nukina N.

J Neurochem. 2009 Sep;110(6):1737-65. doi: 10.1111/j.1471-4159.2009.06302.x. Epub 2009 Jul 23. Review.

PMID:
19650870
7.

Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1.

Tavanez JP, Bengoechea R, Berciano MT, Lafarga M, Carmo-Fonseca M, Enguita FJ.

PLoS One. 2009 Jul 29;4(7):e6418. doi: 10.1371/journal.pone.0006418.

8.

A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.

Reish O, Fullston T, Regev M, Heyman E, Gecz J.

Am J Med Genet A. 2009 Aug;149A(8):1655-60. doi: 10.1002/ajmg.a.32842.

PMID:
19606478
9.

Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.

Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki-Migishima R, Umeki Y, Hohjoh H, Yanagawa Y, Shinba T, Itoh M, Nakamura K, Goto Y.

Hum Mol Genet. 2009 Oct 1;18(19):3708-24. doi: 10.1093/hmg/ddp318. Epub 2009 Jul 15.

10.

A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.

Price MG, Yoo JW, Burgess DL, Deng F, Hrachovy RA, Frost JD Jr, Noebels JL.

J Neurosci. 2009 Jul 8;29(27):8752-63. doi: 10.1523/JNEUROSCI.0915-09.2009.

11.

Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.

Cocquempot O, Brault V, Babinet C, Herault Y.

Genetics. 2009 Sep;183(1):23-30. doi: 10.1534/genetics.109.104695. Epub 2009 Jun 22.

12.

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.

Dipietromaria A, Benayoun BA, Todeschini AL, Rivals I, Bazin C, Veitia RA.

Hum Mol Genet. 2009 Sep 1;18(17):3324-33. doi: 10.1093/hmg/ddp273. Epub 2009 Jun 10.

13.

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

Demos MK, Fullston T, Partington MW, Gécz J, Gibson WT.

Am J Med Genet A. 2009 Jul;149A(7):1482-6. doi: 10.1002/ajmg.a.32851.

PMID:
19507262
14.

Molecular mechanisms underlying polyalanine diseases.

Messaed C, Rouleau GA.

Neurobiol Dis. 2009 Jun;34(3):397-405. doi: 10.1016/j.nbd.2009.02.013. Epub 2009 Mar 6. Review.

PMID:
19269323
15.

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U, Bendavid C, Zhou N, Ouspenskaia M, Bale S, Odent S, David V, Muenke M.

Hum Mutat. 2009 Apr;30(4):E541-54. doi: 10.1002/humu.20982.

16.

Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.

Kuss P, Villavicencio-Lorini P, Witte F, Klose J, Albrecht AN, Seemann P, Hecht J, Mundlos S.

J Clin Invest. 2009 Jan;119(1):146-56. doi: 10.1172/JCI36851. Epub 2008 Dec 15.

17.

Mechanisms for human genomic rearrangements.

Gu W, Zhang F, Lupski JR.

Pathogenetics. 2008 Nov 3;1(1):4. doi: 10.1186/1755-8417-1-4.

18.

Therapeutic application of histone deacetylase inhibitors for central nervous system disorders.

Kazantsev AG, Thompson LM.

Nat Rev Drug Discov. 2008 Oct;7(10):854-68. doi: 10.1038/nrd2681. Review.

PMID:
18827828
19.

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

Beysen D, Moumné L, Veitia R, Peters H, Leroy BP, De Paepe A, De Baere E.

Hum Mol Genet. 2008 Jul 1;17(13):2030-8. doi: 10.1093/hmg/ddn100. Epub 2008 Mar 27.

20.

PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.

Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville AM, Langelier Y, Rouleau GA, Brais B.

Exp Cell Res. 2008 May 1;314(8):1652-66. doi: 10.1016/j.yexcr.2008.02.005. Epub 2008 Feb 23.

PMID:
18367172
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