Results 61 to 70 of about 7,021 (220)

PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle

Nature Communications, 2017
Facioscapulohumeral muscular dystrophy is a myopathy linked to ectopic expression of the DUX4 transcription factor. The authors show that the suppression of targets genes of the myogenesis regulator PAX7 is a signature of FSHD, and might explain ...
Christopher R. S. Banerji, Maryna Panamarova, Husam Hebaishi, Robert B. White, Frédéric Relaix, Simone Severini, Peter S. Zammit   +6 more
doaj   +1 more source

Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat.
Dandapat, Abhijit, Bosnakovski, Darko, Hartweck, Lynn M., Arpke, Robert, Baltgalvis, Kristen, Vang, Derek, Baik, June, Darabi, Radbod, Perlingeiro, Rita C. R., Hamra, Kent, Gupta, Kapil, Lowe, Dawn, Kyba, Michael   +12 more
core   +2 more sources

FSHD myoblasts fail to downregulate intermediate filament protein vimentin during myogenic differentiation. [PDF]

, 2011
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant hereditary neuromuscular disorder. The clinical features of FSHD include weakness of the facial and shoulder girdle muscles followed by wasting of skeletal muscles of the pelvic ...
Barat A. L., Cochet E., Dmitriev P. V., Laoudj-Chenivesse D., Lipinski M., Ogryzko V. V., Vassetzky Y. S.   +6 more
core   +1 more source

Myocellular adaptations to short‐term weighted wheel‐running exercise are largely conserved during C26‐tumour induction in male and female mice

Experimental Physiology, EarlyView.
Abstract This study investigated whether performing a translatable murine model of concurrent training after tumour induction affects adaptations in juvenile male and female tumour‐bearing mice. Male and female Balb/c mice were injected bilaterally with colon‐26 adenocarcinoma (C26) cells or PBS at 8 weeks of age.
Stavroula Tsitkanou, Pieter Koopmans, Calvin Peterson, Ana Regina Cabrera, Ruqaiza Muhyudin, Francielly Morena, Sabin Khadgi, Eleanor R. Schrems, Tyrone A. Washington, Kevin A. Murach, Nicholas P. Greene   +10 more
wiley   +1 more source

Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry

Rare
Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and ...
Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans   +8 more
doaj   +1 more source

DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation [PDF]

, 2008
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disease. It maps to the D4Z4 repeat array at 4q35, and correlates with a repeat contraction which derepresses transcription of local genes. Which, if any, of these genes
Darko Bosnakovski, Sarah Lamb, Tugba Simsek, Zhaohui Xu, Alexandra Belayew, Rita Perlingeiro, Michael Kyba, Ansseau, Bajard, Buckingham, Celegato, Dixit, Gabellini, Gabellini, Gabriels, Hessabi, Hewitt, Kowaljow, Naviaux, Ostlund, Rudnicki, Tajbakhsh, Weintraub, Wijmenga, Winokur, Winokur, Wright   +26 more
core   +1 more source

[Facioscapulohumeral muscular dystrophy]. [PDF]

Nederlands tijdschrift voor tandheelkunde, 2010
Facioscapulohumeral muscular dystrophy is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. It is an autosomal dominant heriditary disease, caused by a contraction of a repetitive DNA element at the end of the long arm of chromosome 4.
Wilbers, J., Frants, R.R., Engelen, B.G.M. van, Padberg, G.W.A.M., Maarel, S.M. van der   +4 more
openaire   +2 more sources

Creatine Phosphokinase in Facioscapulohumeral Muscular Dystrophy [PDF]

BMJ, 1971
Study of the serum creatine kinase levels in young patients with facioscapulohumeral muscular dystrophy suggests that enzyme assay may be valuable as a screening procedure for assessing the status of relatives of an affected individual who have no previous clinical history, and that consequently it may be of use in genetic counselling.
openaire   +3 more sources

An integrated approach in a case of facioscapulohumeral dystrophy [PDF]

, 2014
BACKGROUND: Muscle fatigue, weakness and atrophy are basilar clinical features that accompany facioscapulohumeral dystrophy (FSHD) the third most common muscular dystrophy.No therapy is available for FSHD.
Berardinelli, Angela, D'Antona, Giuseppe, Giovanetti, Giuseppe, Longa, Emanuela, Magnani, Bruno, Pasotti, Stefano, Rossi, Albino, TUPLER, Rossella   +7 more
core   +1 more source

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy

Cardiology, 2005
Cardiac involvement (CI) in form of myocardial thickening in a patient with genetically confirmed facioscapulohumeral muscular dystrophy (FSHMD) has not been reported. The patient is a 50-year-old male with a tandem repeat size of 17 and 14 kb in the D4Z4 locus on chromosome 4q35. The clinical cardiologic investigation was normal.
Claudia Stöllberger, Josef Finsterer, Gerhard Meng   +2 more
openaire   +3 more sources