Two publications, see below
J.C pour AMIS FSH EUROPE

The most important

> Items 1 - 2 of 2
>
> 1: EMBO J. 2008 Oct 2; [Epub ahead of print]
>
> An isogenetic myoblast expression screen identifies DUX4-mediated
> FSHD-associated molecular pathologies.
>
> Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, Simsek T, Garner HR,
> Agha-Mohammadi S, Tassin A, Coppee F, Belayew A, Perlingeiro RR, Kyba M.
>
> Lillehei Heart Institute and Department of Pediatrics, University of
> Minnesota,
> MN, USA.
>
> Facioscapulohumeral muscular dystrophy (FSHD) is caused by an unusual
> deletion
> with neomorphic activity. This deletion derepresses genes in cis;
> however which
> candidate gene causes the FSHD phenotype, and through what mechanism, is
> unknown. We describe a novel genetic tool, inducible cassette exchange,
> enabling
> rapid generation of isogenetically modified cells with conditional and
> variable
> transgene expression. We compare the effects of expressing variable
> levels of
> each FSHD candidate gene on myoblasts. This screen identified only one
> gene with
> overt toxicity: DUX4 (double homeobox, chromosome 4), a protein with two
> homeodomains, each similar in sequence to Pax3 and Pax7. DUX4 expression
> recapitulates key features of the FSHD molecular phenotype, including
> repression
> of MyoD and its target genes, diminished myogenic differentiation,
> repression of
> glutathione redox pathway components, and sensitivity to oxidative
> stress. We
> further demonstrate competition between DUX4 and Pax3/Pax7: when either
> Pax3 or
> Pax7 is expressed at high levels, DUX4 is no longer toxic. We propose a
> hypothesis for FSHD in which DUX4 expression interferes with Pax7 in
> satellite
> cells, and inappropriately regulates Pax targets, including myogenic
> regulatory
> factors, during regeneration.
>
> PMID: 18833193 [PubMed - as supplied by publisher]


And the second

2: Neurol Sci. 2008 Sep;29 Suppl 2 238-40.
>
> Different types of fatigue in patients with facioscapulohumeral dystrophy,
> myotonic dystrophy and HMSN-I. Experienced fatigue and physiological
> fatigue.
>
> Kalkman JS, Zwarts MJ, Schillings ML, van Engelen BG, Bleijenberg G.
>
> Department of Medical Psychology, Radboud University Nijmegen Medical
> Centre,
> Nijmegen, The Netherlands.
>
> Although fatigue is a common symptom in neuromuscular disorders, little
> is known
> about different types of fatigue. Sixty-five FSHD, 79 adult-onset MD and
> 73 HMSN
> type I patients were studied. Experienced fatigue was assessed with the
> CIS-fatigue subscale. Physiological fatigue was measured during a 2-min
> sustained maximal voluntary contraction of the biceps brachii muscle
> using the
> twitch interpolation technique to assess central activation failure
> (CAF) and
> peripheral fatigue. Experienced fatigue, CAF and peripheral fatigue
> appeared to
> be predominantly separate types of fatigue.
>
> PMID: 18690504 [PubMed - in process]

----- Message d'origine ----
De : kraut_chris21 <rockalewski@...>
À : fshsociety@yahoogroups.com
Envoyé le : Lundi, 6 Octobre 2008, 0h32mn 24s
Objet : [fshsociety] Re: lots of new researches in fshd


tell me what you found - i'm interested and am going to explain it.

greets,
chris

--- In fshsociety@yahoogro ups.com, yorambya <no_reply@.. .> wrote:
>
> as i see in the europe-fshd- group
> in pubmed 5 new (to me) - only i didnt understant a word.....
> Somebody?
>
>
> nili
>






[Non-text portions of this message have been removed]