Results 21 to 30 of about 1,312 (124)

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Brain, 2023
Abstract Facioscapulohumeral dystrophy (FSHD) has a unique genetic aetiology resulting in partial chromatin relaxation of the D4Z4 macrosatellite repeat array on 4qter. This D4Z4 chromatin relaxation facilitates inappropriate expression of the transcription factor DUX4 in skeletal muscle.
Richard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, Jan L de Bleecker, Ludo van der Pol, Diane M Dunn, Corrie E Erasmus, Marc D'Hooghe, Kristof Verhoeven, Judit Balog, Anne Bigot, Baziel van Engelen, Jeffrey Statland, Enrico Bugiardini, Nienke van der Stoep, Teresinha Evangelista, Chiara Marini-Bettolo, Peter van den Bergh, Rabi Tawil, Nicol C Voermans, John Vissing, Robert B Weiss, Silvère M van der Maarel   +22 more
openaire   +6 more sources

Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy [PDF]

The American Journal of Human Genetics, 2004
Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the D4Z4 repeat in the subtelomere of chromosome 4q. Two allelic variants of chromosome 4q (4qA and 4qB) exist in the region distal to D4Z4. Although both variants are almost equally frequent in the population, FSHD is associated exclusively with the 4qA allele.
Lemmers, R.J.L.F., Wohlgemuth, M., Frants, R.R., Padberg, G.W.A.M., Morava, E., Maarel, S.M. van der   +5 more
openaire   +3 more sources

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

PLoS Genetics, 2013
Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat.
Krom, Y.D., Thijssen, P.E., Young, J.M., Hamer, B. den, Balog, J., Yao, Z.Z., Maves, L., Snider, L., Knopp, P., Zammit, P.S., Rijkers, T., Engelen, B.G.M. van, Padberg, G.W., Frants, R.R., Tawil, R., Tapscott, S.J., Maarel, S.M. van der   +16 more
openaire   +8 more sources

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers [PDF]

Neurology, 2014
We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and could not thus far be correlated with disease presence or severity.To investigate the link between clinical signs of FSHD and DNA methylation, we explored 95 cases (37
Marie-Cécile, Gaillard, Stéphane, Roche, Camille, Dion, Armand, Tasmadjian, Gwenaëlle, Bouget, Emmanuelle, Salort-Campana, Catherine, Vovan, Charlene, Chaix, Natacha, Broucqsault, Julia, Morere, Francesca, Puppo, Marc, Bartoli, Nicolas, Levy, Rafaëlle, Bernard, Shahram, Attarian, Karine, Nguyen, Frédérique, Magdinier   +16 more
openaire   +2 more sources

Machine Learning Model for an App‐Based Tool to Assist With the Diagnosis of Canine Atopic Dermatitis

Veterinary Dermatology, Volume 37, Issue 2, Page 236-246, April 2026.
Canine atopic dermatitis (cAD) is a chronic condition requiring life‐long management. Accurate diagnosis can be challenging, with no reliable diagnostic test. This study aimed to generate a simple diagnostic model for cAD. This model is a relevant prototype for an app‐based tool to support general practitioners in the diagnosis of cAD alongside ...
Xavier Langon, Mathieu Montoya, Isabelle Gourdon   +2 more
wiley   +1 more source

A Novel Topical Emollient Plus for Canine Atopic Dermatitis: A Clinical Trial Assessing Efficacy and User Acceptance

Veterinary Dermatology, Volume 37, Issue 2, Page 293-305, April 2026.
Background: Canine atopic dermatitis (cAD) is a common, chronic skin condition characterised by epidermal barrier dysfunction, immune dysregulation and cutaneous dysbiosis. While “emollient plus” formulations are widely used in human atopic dermatitis, their role in cAD remains underexplored. Hypothesis/Objectives: To evaluate the clinical efficacy and
Beatriz Fernandes, António Caldeira Mendes, Susana Paula Alves, Vanessa Schmidt, Ana Filipa Bizarro, Marta Pinto, Hugo Pereira, Joana Marto, Ana Mafalda Lourenço   +8 more
wiley   +1 more source

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2 [PDF]

Human Molecular Genetics, 2018
Facioscapulohumeral muscular dystrophy, known in genetic forms FSHD1 and FSHD2, is associated with D4Z4 repeat array chromatin relaxation and somatic derepression of DUX4 located in D4Z4. A complete copy of DUX4 is present on 4qA chromosomes, but not on the D4Z4-like repeats of chromosomes 4qB or 10.
Lemmers, R.J.L.F., Vliet, P.J. van der, Vreijling, J.P., Henderson, D., Stoep, N. van der, Voermans, N., Engelen, B. van, Baas, F., Sacconi, S., Tawil, R., Maarel, S.M. van der   +10 more
openaire   +4 more sources

Efficacy of Der f 2/Zen 1‐LAMP1 Plasmid‐Based Vaccine Immunotherapy in Dogs With Atopic Dermatitis: A Proof‐of‐Concept Study

Veterinary Dermatology, Volume 37, Issue 2, Page 306-318, April 2026.
Background: DNA‐based vaccination rapidly induces strong cellular and humoral immune responses, which may be enhanced by inclusion of lysosomal‐associated membrane protein‐1 (LAMP). Objectives: This proof‐of‐concept study evaluated the efficacy and safety of a Der f 2/Zen 1‐LAMP‐based DNA vaccine immunotherapy in client‐owned dogs with nonseasonal AD ...
Petra Bizikova, Chigusa Matsumoto, Shoji Ogino, Toshihiro Tsukui, Kim Love, Marcy Murphy, Ina Herrmann   +6 more
wiley   +1 more source

Randomised, Double‐Blinded, Placebo‐Controlled Challenge Test With Single Food Items in Dogs With Atopic Dermatitis and Adverse Food Reactions

Veterinary Dermatology, Volume 37, Issue 2, Page 247-256, April 2026.
ABSTRACT Background Identification of offending foods in dogs with adverse food reactions is usually based on “deterioration” during open food challenges. Objectives To examine the placebo effect during double‐blinded, placebo‐controlled food challenges using a predefined set of criteria for relapse.
Evi I. Sofou, Elisa Samuel, Svetlina Aleksandrova, Manolis Chatzis, Manolis N. Saridomichelakis   +4 more
wiley   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus–Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies

Muscle &Nerve, Volume 73, Issue 3, Page 485-489, March 2026.
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley   +1 more source