Facioscapulohumeral muscular dystrophy: the road to targeted therapies
MS Tihaya, K Mul, J Balog, JC de Greef… - Nature Reviews …, 2023 - nature.com
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …
Round cell sarcomas beyond E wing: emerging entities
C Antonescu - Histopathology, 2014 - Wiley Online Library
Primitive small blue round cell tumours (SBRCT) of childhood and young adults have been
problematic to diagnose and classify. Diagnosis is also complicated in cases with atypical …
problematic to diagnose and classify. Diagnosis is also complicated in cases with atypical …
A unifying genetic model for facioscapulohumeral muscular dystrophy
RJLF Lemmers, PJ Van der Vliet, R Klooster, S Sacconi… - Science, 2010 - science.org
Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy
in adults that is foremost characterized by progressive wasting of muscles in the upper body …
in adults that is foremost characterized by progressive wasting of muscles in the upper body …
High prevalence of CIC fusion with double‐homeobox (DUX4) transcription factors in EWSR1‐negative undifferentiated small blue round cell sarcomas
A Italiano, YS Sung, L Zhang, S Singer… - Genes …, 2012 - Wiley Online Library
Primitive round cell sarcomas of childhood and young adults have been problematic to
diagnose and classify. Our goal was to investigate the pathologic and molecular …
diagnose and classify. Our goal was to investigate the pathologic and molecular …
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
ND Shaw, H Brand, ZA Kupchinsky, H Bengani… - Nature …, 2017 - nature.com
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia …
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia …
[HTML][HTML] The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
S Sacconi, RJLF Lemmers, J Balog… - The American Journal of …, 2013 - cell.com
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the
D4Z4 repeat array on chromosome 4 to a size of 1–10 units. The residual number of D4Z4 …
D4Z4 repeat array on chromosome 4 to a size of 1–10 units. The residual number of D4Z4 …
[HTML][HTML] Evaluation of ETV4 and WT1 expression in CIC-rearranged sarcomas and histologic mimics
YP Hung, CDM Fletcher, JL Hornick - Modern Pathology, 2016 - Elsevier
A distinct subset of round cell sarcomas harbors capicua transcriptional repressor (CIC)
rearrangement. Diagnosing these sarcomas can be difficult owing to their resemblance to …
rearrangement. Diagnosing these sarcomas can be difficult owing to their resemblance to …
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
TI Jones, JCJ Chen, F Rahimov… - Human molecular …, 2012 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD), the most prevalent myopathy afflicting
both children and adults, is predominantly associated with contractions in the 4q35-localized …
both children and adults, is predominantly associated with contractions in the 4q35-localized …
Facioscapulohumeral muscular dystrophy
JM Statland, R Tawil - CONTINUUM: Lifelong Learning in …, 2016 - journals.lww.com
Abstract Purpose of Review: This article describes the clinical characteristics, diagnosis,
molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD) …
molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD) …
[HTML][HTML] Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update
T Schätzl, L Kaiser, HP Deigner - Orphanet Journal of Rare Diseases, 2021 - Springer
Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD)
does not exist currently, recent advances in complex molecular pathophysiology studies of …
does not exist currently, recent advances in complex molecular pathophysiology studies of …