PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level
Author:
Affiliation:
1. King’s College London, Randall Centre for Cell and Molecular Biophysics, New Hunt’s House, Guy’s Campus, London, UK
2. Faculty of Medicine, Imperial College London, Level, Faculty Building, South Kensington Campus, London, UK
Funder
FSH Society
Foulkes Foundation
Medical Research Council
French Association against Myopathies
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/28/13/2224/28848036/ddz043.pdf
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3. Extreme variability of expression in monozygotic twins with FSH muscular dystrophy;Tawil;Neurology,1993
4. Mutation spectrum and phenotypic manifestation in FSHD Greek patients;Sakellariou;Neuromuscul. Disord.,2012
5. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD);Tonini;Neuromuscul. Disord.,2004
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