Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 27

1.

Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice.

HD iPSC Consortium..

Nat Neurosci. 2017 May;20(5):648-660. doi: 10.1038/nn.4532. Epub 2017 Mar 20.

PMID:
28319609
2.

Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes.

HD iPSC Consortium..

Cell Stem Cell. 2012 Aug 3;11(2):264-78. doi: 10.1016/j.stem.2012.04.027. Epub 2012 Jun 28.

3.

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

Masny PS, Chan OY, de Greef JC, Bengtsson U, Ehrlich M, Tawil R, Lock LF, Hewitt JE, Stocksdale J, Martin JH, van der Maarel SM, Winokur ST.

Eur J Hum Genet. 2010 Apr;18(4):448-56. doi: 10.1038/ejhg.2009.183. Epub 2009 Nov 4.

4.

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K.

PLoS Genet. 2009 Jul;5(7):e1000559. doi: 10.1371/journal.pgen.1000559. Epub 2009 Jul 10.

5.

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.

Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ.

Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9.

6.

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.

Bakay M, Wang Z, Melcon G, Schiltz L, Xuan J, Zhao P, Sartorelli V, Seo J, Pegoraro E, Angelini C, Shneiderman B, Escolar D, Chen YW, Winokur ST, Pachman LM, Fan C, Mandler R, Nevo Y, Gordon E, Zhu Y, Dong Y, Wang Y, Hoffman EP.

Brain. 2006 Apr;129(Pt 4):996-1013. Epub 2006 Feb 14.

PMID:
16478798
7.

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.

van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM.

Ann Neurol. 2005 Oct;58(4):569-76.

PMID:
16178028
8.

Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

Masny PS, Bengtsson U, Chung SA, Martin JH, van Engelen B, van der Maarel SM, Winokur ST.

Hum Mol Genet. 2004 Sep 1;13(17):1857-71. Epub 2004 Jul 6.

PMID:
15238509
9.

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
10.

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

Winokur ST, Chen YW, Masny PS, Martin JH, Ehmsen JT, Tapscott SJ, van der Maarel SM, Hayashi Y, Flanigan KM.

Hum Mol Genet. 2003 Nov 15;12(22):2895-907. Epub 2003 Sep 30.

PMID:
14519683
11.

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.

Winokur ST, Barrett K, Martin JH, Forrester JR, Simon M, Tawil R, Chung SA, Masny PS, Figlewicz DA.

Neuromuscul Disord. 2003 May;13(4):322-33.

PMID:
12868502
12.
13.

The distribution of somatic H1 subtypes is non-random on active vs. inactive chromatin: distribution in human fetal fibroblasts.

Parseghian MH, Newcomb RL, Winokur ST, Hamkalo BA.

Chromosome Res. 2000;8(5):405-24.

PMID:
10997781
14.
15.

Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs.

Xia H, Winokur ST, Kuo WL, Altherr MR, Bredt DS.

J Cell Biol. 1997 Oct 20;139(2):507-15.

16.

The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region.

Winokur ST, Bengtsson U, Vargas JC, Wasmuth JJ, Altherr MR.

Hum Mol Genet. 1997 Mar;6(3):502. No abstract available.

PMID:
9147656
17.

The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region.

Winokur ST, Bengtsson U, Vargas JC, Wasmuth JJ, Altherr MR, Weiffenbach B, Jacobsen SJ.

Hum Mol Genet. 1996 Oct;5(10):1567-75. Erratum in: Hum Mol Genet. 1997 Mar;6(3):502.

PMID:
8894690
18.

Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy.

Altherr MR, Bengtsson U, Markovich RP, Winokur ST.

Muscle Nerve Suppl. 1995;(2):S32-8.

PMID:
23573584
19.

Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy.

Altherr MR, Bengtsson U, Markovich RP, Winokur ST.

Muscle Nerve Suppl. 1995;2:S32-8. Review.

PMID:
7739623

Supplemental Content

Loading ...
Support Center