• No results found

Rearrangements within the facioscapulohumeral muscular dystrophy locus: mechanism, timing and consequences.

N/A
N/A
Info
Downloaden
Protected

Academic year: 2021

Share "Rearrangements within the facioscapulohumeral muscular dystrophy locus: mechanism, timing and consequences."

Copied!
3
0
0

Bezig met laden.... (Bekijk nu de volledige tekst)

Download het nu ( 3 pagina )

Hele tekst

(1)

Rearrangements within the facioscapulohumeral muscular dystrophy

locus: mechanism, timing and consequences.

Lemmers, R.

Citation

Lemmers, R. (2005, June 15). Rearrangements within the facioscapulohumeral muscular

dystrophy locus: mechanism, timing and consequences. Retrieved from

https://hdl.handle.net/1887/2699

Version: Corrected Publisher’s Version

License: Licence agreement concerning inclusion of doctoral thesis in theInstitutional Repository of the University of Leiden Downloaded from: https://hdl.handle.net/1887/2699

(2)

7

Outline of the thesis

The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disorder and is characterized by progressive muscle weakness and atrophy, initially involving muscles in the face, upper arm and shoulder girdle. FSHD is caused by contractions of the D4Z4 repeat on chromosome 4q35. An almost identical D4Z4 repeat is present on chromosome 10q26 but contractions of this repeat have never been associated with FSHD. Because transcriptional activity from D4Z4 has never been demonstrated, other disease models have been proposed in which the D4Z4 contraction causes inappropriate transcription of cisand/or transgenes.

(3)

Referenties

Download het nu ( PDF - 3 pagina - 107.37 KB )

GERELATEERDE DOCUMENTEN

4VSLJ\SHY WO`SVNLU` [H_VUVT` HUK UPJOL L]VS\[PVU VM [OL

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden Downloaded from: https://hdl.handle.net/1887/16263.

License: Licence agreement concerning inclusion of doctoral thesis in the

Detection of amyloid plaques in mouse models of Alzheimer’s disease by magnetic resonance imaging.. Apostolova

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden

More precisely, an upper bound for the variance of the test statistic R N ∗ is realized by the one-dimensional Moore-Rayleigh null hypothesis, whose distribution is similar to the

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden

Since expression of Serpins may facilitate the immune escape of HLA positive tumors, we next analysed the effect of Serpin expression on survival in cases with normal/partial

Rearrangements within the facioscapulohumeral muscular dystrophy locus: mechanism, timing and consequences.

Bij alle somatisch mozaïeke patiënten beschreven in FSHD publicaties, vond de D4Z4 contractie waarschijnlijk plaats voor de afsplitsing van de kiembaan en waarschijnlijk zijn al

Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden

Peripheral blood cells were stained with HLA-A2.1 tetramers containing the tyrosinase368–376 peptide followed by staining with a panel of lineage antibodies, as described in

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden

Blades and blade fragments seem to have been especially used for longitudinal motions, mainly on plant material (7/12). Flake and flake fragments are used in different motions on

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden

This shape also occurs in the combination artefacts (see below). The shape is the result of intensive use in a repetitive abrasive motion, carried out from different angles. In