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Items: 1 to 20 of 125

1.

Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies.

Scharner J, Figeac N, Ellis JA, Zammit PS.

Gene Ther. 2015 Jun;22(6):503-15. doi: 10.1038/gt.2015.8. Epub 2015 Apr 2.

PMID:
25832542
2.

Mutations in the LMNA gene encoding lamin A/C.

Genschel J, Schmidt HH.

Hum Mutat. 2000 Dec;16(6):451-9. Review.

PMID:
11102973
3.

Mouse models of laminopathies.

Zhang H, Kieckhaefer JE, Cao K.

Aging Cell. 2013 Feb;12(1):2-10. doi: 10.1111/acel.12021. Epub 2012 Nov 26. Review.

4.

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

Zwerger M, Jaalouk DE, Lombardi ML, Isermann P, Mauermann M, Dialynas G, Herrmann H, Wallrath LL, Lammerding J.

Hum Mol Genet. 2013 Jun 15;22(12):2335-49. doi: 10.1093/hmg/ddt079. Epub 2013 Feb 19.

5.

Both emerin and lamin C depend on lamin A for localization at the nuclear envelope.

Vaughan A, Alvarez-Reyes M, Bridger JM, Broers JL, Ramaekers FC, Wehnert M, Morris GE, Whitfield WGF, Hutchison CJ.

J Cell Sci. 2001 Jul;114(Pt 14):2577-90.

6.

[Diseases associated with lamin A/C gene defects: what the clinical cardiologist ought to know].

Pasotti M, Repetto A, Pisani A, Arbustini E.

Ital Heart J Suppl. 2004 Feb;5(2):98-111. Review. Italian.

PMID:
15080529
7.

Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics.

Ho CY, Jaalouk DE, Vartiainen MK, Lammerding J.

Nature. 2013 May 23;497(7450):507-11. doi: 10.1038/nature12105. Epub 2013 May 5.

8.

Evolution of the lamin protein family: what introns can tell.

Peter A, Stick R.

Nucleus. 2012 Jan-Feb;3(1):44-59. Review.

PMID:
22156746
9.

Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.

Motsch I, Kaluarachchi M, Emerson LJ, Brown CA, Brown SC, Dabauvalle MC, Ellis JA.

Eur J Cell Biol. 2005 Sep;84(9):765-81.

PMID:
16218190
11.

Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.

Folker ES, Ostlund C, Luxton GW, Worman HJ, Gundersen GG.

Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):131-6. doi: 10.1073/pnas.1000824108. Epub 2010 Dec 20.

12.

Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.

Holt I, Ostlund C, Stewart CL, Man Nt, Worman HJ, Morris GE.

J Cell Sci. 2003 Jul 15;116(Pt 14):3027-35. Epub 2003 Jun 3.

13.

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.

Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, Columbaro M, Parnaik VK, Wehnert M, Maraldi NM, Squarzoni S, Lattanzi G.

Exp Cell Res. 2003 Nov 15;291(1):122-34.

PMID:
14597414
14.
15.

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.

N Engl J Med. 1999 Dec 2;341(23):1715-24.

16.

Lamin A Δexon9 mutation leads to telomere and chromatin defects but not genomic instability.

Das A, Grotsky DA, Neumann MA, Kreienkamp R, Gonzalez-Suarez I, Redwood AB, Kennedy BK, Stewart CL, Gonzalo S.

Nucleus. 2013 Sep-Oct;4(5):410-9. doi: 10.4161/nucl.26873. Epub 2013 Oct 23.

17.

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE.

Am J Med Genet. 2001 Sep 1;102(4):359-67.

PMID:
11503164
18.

Nuclear lamins and neurobiology.

Young SG, Jung HJ, Lee JM, Fong LG.

Mol Cell Biol. 2014 Aug;34(15):2776-85. doi: 10.1128/MCB.00486-14. Epub 2014 May 19. Review.

19.

The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype.

Fairley EA, Riddell A, Ellis JA, Kendrick-Jones J.

J Cell Sci. 2002 Jan 15;115(Pt 2):341-54.

20.

Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

Broers JL, Peeters EA, Kuijpers HJ, Endert J, Bouten CV, Oomens CW, Baaijens FP, Ramaekers FC.

Hum Mol Genet. 2004 Nov 1;13(21):2567-80. Epub 2004 Sep 14.

PMID:
15367494

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