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Items: 1 to 20 of 52

1.

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG.

J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450.

2.

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M.

Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013.

3.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.

Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.

4.

A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy.

Petrov A, Allinne J, Pirozhkova I, Laoudj D, Lipinski M, Vassetzky YS.

Genome Res. 2008 Jan;18(1):39-45. Epub 2007 Nov 21.

5.

Three-dimensional genome organization in interphase and its relation to genome function.

Goetze S, Mateos-Langerak J, van Driel R.

Semin Cell Dev Biol. 2007 Oct;18(5):707-14. Epub 2007 Aug 25. Review.

PMID:
17905616
6.

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

Udd B.

Biochim Biophys Acta. 2007 Feb;1772(2):145-58. Epub 2006 Aug 18. Review.

7.

Laminopathies: multiple disorders arising from defects in nuclear architecture.

Parnaik VK, Manju K.

J Biosci. 2006 Sep;31(3):405-21. Review.

8.

Molecular properties and intracellular localization of rat liver nuclear scaffold protein P130.

Hibino Y, Usui T, Morita Y, Hirose N, Okazaki M, Sugano N, Hiraga K.

Biochim Biophys Acta. 2006 May;1759(5):195-207. Epub 2006 May 22.

PMID:
16814881
9.

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).

Garvey SM, Senderek J, Beckmann JS, Seboun E, Jackson CE, Hauser MA.

Ann Hum Genet. 2006 May;70(Pt 3):414-6.

10.

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

Brunham LR, Singaraja RR, Pape TD, Kejariwal A, Thomas PD, Hayden MR.

PLoS Genet. 2005 Dec;1(6):e83. Epub 2005 Dec 30.

11.

A mutation in myotilin causes spheroid body myopathy.

Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC.

Neurology. 2005 Dec 27;65(12):1936-40.

PMID:
16380616
12.

Towards a proteome-scale map of the human protein-protein interaction network.

Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M.

Nature. 2005 Oct 20;437(7062):1173-8. Epub 2005 Sep 28.

PMID:
16189514
13.
14.

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG.

Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20.

17.

Mutations in myotilin cause myofibrillar myopathy.

Selcen D, Engel AG.

Neurology. 2004 Apr 27;62(8):1363-71. Erratum in: Neurology. 2004 Jul 27;63(2):405.

PMID:
15111675
18.

Chromatin loops are selectively anchored using scaffold/matrix-attachment regions.

Heng HH, Goetze S, Ye CJ, Liu G, Stevens JB, Bremer SW, Wykes SM, Bode J, Krawetz SA.

J Cell Sci. 2004 Mar 1;117(Pt 7):999-1008.

19.

PANTHER: a library of protein families and subfamilies indexed by function.

Thomas PD, Campbell MJ, Kejariwal A, Mi H, Karlak B, Daverman R, Diemer K, Muruganujan A, Narechania A.

Genome Res. 2003 Sep;13(9):2129-41.

20.

hLodestar/HuF2 interacts with CDC5L and is involved in pre-mRNA splicing.

Leonard D, Ajuh P, Lamond AI, Legerski RJ.

Biochem Biophys Res Commun. 2003 Sep 5;308(4):793-801.

PMID:
12927788

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