Results 21 to 30 of about 151 (87)

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

Scientific Reports, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35.
Giulia Ricci, Fabiano Mele, Monica Govi, Lucia Ruggiero, Francesco Sera, Liliana Vercelli, Cinzia Bettio, Lucio Santoro, Tiziana Mongini, Luisa Villa, Maurizio Moggio, Massimiliano Filosto, Marina Scarlato, Stefano C. Previtali, Silvia Maria Tripodi, Elena Pegoraro, Roberta Telese, Antonio Di Muzio, Carmelo Rodolico, Elisabetta Bucci, Giovanni Antonini, Maria Grazia D’Angelo, Angela Berardinelli, Lorenzo Maggi, Rachele Piras, Maria Antonietta Maioli, Gabriele Siciliano, Giuliano Tomelleri, Corrado Angelini, Rossella Tupler   +29 more
doaj   +1 more source

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. [PDF]

PLoS Genetics, 2010
Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene encoding the DUX4 double-homeobox transcription factor. Facioscapulohumeral dystrophy (FSHD) is caused by deletion of a subset of the D4Z4 units in the subtelomeric region of ...
Lauren Snider, Linda N Geng, Richard J L F Lemmers, Michael Kyba, Carol B Ware, Angelique M Nelson, Rabi Tawil, Galina N Filippova, Silvère M van der Maarel, Stephen J Tapscott, Daniel G Miller   +10 more
doaj   +1 more source

Engineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation

iScience
Summary: Facioscapulohumeral dystrophy (FSHD) is linked to contraction of D4Z4 repeats on chromosome 4q with SMCHD1 mutations acting as a disease modifier.
Xiangduo Kong, Nam Viet Nguyen, Yumeng Li, Jasmine Shaaban Sakr, Kate Williams, Sheila Sharifi, Jonathan Chau, Altay Bayrakci, Seiya Mizuno, Satoru Takahashi, Tohru Kiyono, Rabi Tawil, Ali Mortazavi, Kyoko Yokomori   +13 more
doaj   +1 more source

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

Frontiers in Neurology, 2018
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder which is typically transmitted by an autosomal dominant pattern, although reduced penetrance and sporadic cases caused by de novo mutations, are often observed.
Raffaella Cascella, Raffaella Cascella, Claudia Strafella, Claudia Strafella, Valerio Caputo, Rosaria Maria Galota, Valeria Errichiello, Marianna Scutifero, Roberta Petillo, Gian Luca Marella, Mauro Arcangeli, Luca Colantoni, Stefania Zampatti, Enzo Ricci, Giancarlo Deidda, Luisa Politano, Emiliano Giardina, Emiliano Giardina   +17 more
doaj   +1 more source

A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy. [PDF]

PLoS ONE, 2008
The number of D4Z4 repeats in the subtelomeric region of chromosome 4q is strongly reduced in patients with Facio-Scapulo-Humeral Dystrophy (FSHD). We performed chromosome conformation capture (3C) analysis to document the interactions taking place among
Iryna Pirozhkova, Andrei Petrov, Petr Dmitriev, Dalila Laoudj, Marc Lipinski, Yegor Vassetzky   +5 more
doaj   +1 more source

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. [PDF]

PLoS ONE, 2009
Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4) within each D4Z4 unit that encodes a transcription factor expressed ...
Eugénie Ansseau, Dalila Laoudj-Chenivesse, Aline Marcowycz, Alexandra Tassin, Céline Vanderplanck, Sébastien Sauvage, Marietta Barro, Isabelle Mahieu, Axelle Leroy, India Leclercq, Véronique Mainfroid, Denise Figlewicz, Vincent Mouly, Gillian Butler-Browne, Alexandra Belayew, Frédérique Coppée   +15 more
doaj   +1 more source

Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele

Epigenetics & Chromatin, 2018
Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) has an autosomal dominant pattern of inheritance and primarily affects skeletal muscle.
Premi Haynes, Karol Bomsztyk, Daniel G. Miller   +2 more
doaj   +1 more source

A 12‐Year‐Old Child With a Sunken Sternum and Progressive Muscle Weakness: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT A 12‐year‐old girl with facioscapulohumeral muscular dystrophy and severe pectus excavatum presented with progressive dyspnea and restrictive ventilatory impairment. She underwent successful Nuss repair with uneventful recovery. At 6‐month follow‐up, chest contour and pulmonary function improved, suggesting that surgical correction is feasible
Siman Chen, Chenghao Chen, Qi Zeng
wiley   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, Volume 99, Issue 6, Page 1545-1554, June 2026.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN, Jeffrey Statland, Mazen Dimachkie, Constantine Farmakidis, Mamantha Pasnoor, Duaa Jabari, Omar Jawdat, Melissa Currence, Sandhya Sasidharan, Kiley Higgs, Michaela Walker, Rebecca Clay, Rabi Tawil, Johanna Hamel, Kate Eichinger, Leann Lewis, Samantha LoRusso, Bakri Elsheikh, W. David Arnold, Kristina Kelly, Marco Tellez, Leo H. Wang, Matthew K Preston, Catherine Kieu, Aliya Shabbir, Russell Butterfield, Clark Moser, Melissa McIntyre, Amelia Wilson, Sarah Moldt, Katheryn Wagner, Doris Leung, Andrea Jaworek, Nikia Stinson, Mary Yep, Perry Shieh, Christy Skura, Jennifer Huynh, Nicholas Johnson, Amanda Butler, Aileen Jones, Jodie Howell, Karlien Mul, Valeria Sansone, Elena Carraro, Valentina Franchino, Erica DiNatale, Michael Nani, Sabrina Sacconi, Luisa Villa, Giulia Tammam, Jeremy Garcia, Manuela Gambella, Sandray Ayari   +68 more
wiley   +1 more source

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

Stem Cell Research, 2019
Facioscapulohumeral dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4q resulting in sporadic misexpression of the transcription factor DUX4 in skeletal muscle tissue.
Erik van der Wal, Bianca den Hamer, Patrick J. van der Vliet, Merve Tok, Tom Brands, Bert Eussen, Richard J.L.F. Lemmers, Christian Freund, Annelies de Klein, Ronald A.M. Buijsen, Willeke M.C. van Roon-Mom, Rabi Tawil, Silvère M. van der Maarel, Jessica C. de Greef   +13 more
doaj   +1 more source