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Items: 1 to 20 of 44

1.

The glycosylphosphatidylinositol anchor: a complex membrane-anchoring structure for proteins.

Paulick MG, Bertozzi CR.

Biochemistry. 2008 Jul 8;47(27):6991-7000. doi: 10.1021/bi8006324. Epub 2008 Jun 17. Review.

2.

Muscling through the microRNA world.

Callis TE, Deng Z, Chen JF, Wang DZ.

Exp Biol Med (Maywood). 2008 Feb;233(2):131-8. doi: 10.3181/0709-MR-237. Review.

PMID:
18222968
3.

Facioscapulohumeral dystrophy.

Pandya S, King WM, Tawil R.

Phys Ther. 2008 Jan;88(1):105-13. Epub 2007 Nov 6. Review.

PMID:
17986494
4.

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.

Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, Chen YW.

Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18157-62. Epub 2007 Nov 5.

5.

Distinctive patterns of microRNA expression in primary muscular disorders.

Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, Kunkel LM.

Proc Natl Acad Sci U S A. 2007 Oct 23;104(43):17016-21. Epub 2007 Oct 17. Erratum in: Proc Natl Acad Sci U S A. 2008 Jan 8;105(1):399.

6.

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.

Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM.

Am J Hum Genet. 2007 Nov;81(5):884-94. Epub 2007 Sep 7.

7.

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.

Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Mattéotti C, Arias C, Corona ED, Nuñez NG, Leo O, Wattiez R, Figlewicz D, Laoudj-Chenivesse D, Belayew A, Coppée F, Rosa AL.

Neuromuscul Disord. 2007 Aug;17(8):611-23. Epub 2007 Jun 27.

PMID:
17588759
8.

Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I.

Kalkman JS, Schillings ML, Zwarts MJ, van Engelen BG, Bleijenberg G.

Acta Neurol Scand. 2007 Apr;115(4):265-70.

PMID:
17376125
9.

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R.

Neurology. 2007 Feb 20;68(8):569-77. Epub 2006 Dec 6.

PMID:
17151338
10.

Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.

Celegato B, Capitanio D, Pescatori M, Romualdi C, Pacchioni B, Cagnin S, Viganò A, Colantoni L, Begum S, Ricci E, Wait R, Lanfranchi G, Gelfi C.

Proteomics. 2006 Oct;6(19):5303-21.

11.

Genetic defects in the human glycome.

Freeze HH.

Nat Rev Genet. 2006 Jul;7(7):537-51. Epub 2006 Jun 6. Review. Erratum in: Nat Rev Genet. 2006 Aug;7(8):660.

PMID:
16755287
12.

Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts.

Petrov A, Pirozhkova I, Carnac G, Laoudj D, Lipinski M, Vassetzky YS.

Proc Natl Acad Sci U S A. 2006 May 2;103(18):6982-7. Epub 2006 Apr 21.

13.

Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy.

Reed P, Porter NC, Strong J, Pumplin DW, Corse AM, Luther PW, Flanigan KM, Bloch RJ.

Ann Neurol. 2006 Feb;59(2):289-97.

PMID:
16437580
14.

The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation.

Chen JF, Mandel EM, Thomson JM, Wu Q, Callis TE, Hammond SM, Conlon FL, Wang DZ.

Nat Genet. 2006 Feb;38(2):228-33. Epub 2005 Dec 25.

15.

Assessing natural variations in gene expression in humans by comparing with monozygotic twins using microarrays.

Sharma A, Sharma VK, Horn-Saban S, Lancet D, Ramachandran S, Brahmachari SK.

Physiol Genomics. 2005 Mar 21;21(1):117-23. Epub 2005 Jan 11.

16.

Histones and histone modifications.

Peterson CL, Laniel MA.

Curr Biol. 2004 Jul 27;14(14):R546-51. Review. No abstract available.

17.

Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy.

Yang F, Shao C, Vedanarayanan V, Ehrlich M.

Chromosoma. 2004 May;112(7):350-9. Epub 2004 May 11.

PMID:
15138770
18.

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.

Tonini MM, Pavanello RC, Gurgel-Giannetti J, Lemmers RJ, van der Maarel SM, Frants RR, Zatz M.

J Med Genet. 2004 Feb;41(2):e17. No abstract available.

19.

Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD).

Tonini MM, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello R, Zatz M.

Neuromuscul Disord. 2004 Jan;14(1):33-8.

PMID:
14659410
20.

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.

van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM.

Nat Genet. 2003 Dec;35(4):315-7. Epub 2003 Nov 23.

PMID:
14634647

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