Results 71 to 80 of about 2,422 (183)
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review
Prenatal Diagnosis, Volume 44, Issue 9, Page 1098-1104, August 2024.Abstract This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis.
Vivien Cuvelier +7 more
wiley +1 more source
A single-nucleotide polymorphism in the human p27gene (-838C>A) affects basal promoter activity and the risk of myocardial infarction [PDF]
, 2004 This article is available from: http://www.biomedcentral.com/1741-7007/2/5[Background] Excessive proliferation of vascular smooth muscle cells and leukocytes within the artery wall is a major event in the development of atherosclerosis.
Pelayo PelayoGonzález +7 more
core +2 more sources
Are All Statins the Same? Focus on the Efficacy and Tolerability of Pitavastatin [PDF]
, 2011 Pitavastatin is the newest member of the HMG-CoA reductase inhibitor family and is approved as adjunctive therapy to diet to reduce elevated levels of total cholesterol, low-density lipoprotein (LDL) cholesterol, apolipoprotein (Apo) B, and triglycerides
Marques da Silva, P
core +1 more source
Advanced Science, Volume 11, Issue 26, July 10, 2024.This study describes the new generation laminin fragments, a recombinant form of a laminin E8 fragment conjugated to the heparan sulfate chains. Taking advantage of the new generation laminin fragments, authors established a highly efficient and xeno‐free protocol for paraxial mesoderm differentiation of hiPSCs followed by high myogenic induction ...
Mingming Zhao +10 more
wiley +1 more source
European Journal of Heart Failure, Volume 27, Issue 9, Page 1788-1792, September 2025.
Shunsuke Inoue +19 more
wiley +1 more source
miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies [PDF]
, 2015 International audienceBackground :Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD are already expressed in fetal
Butler-Browne, Gillian +11 more
core +4 more sources
DNA methylation dynamics in muscle development and disease [PDF]
, 2015 DNA methylation is an essential epigenetic modification for mammalian development and is crucial for the establishment and maintenance of cellular identity.
Carrió Gaspar, Elvira +1 more
core +3 more sources
DYSF gene variant spectrum in Arab populations across eight countries: A systematic review
Biomolecules & BiomedicineDysferlinopathies are a subset of autosomal recessive muscular dystrophies resulting from pathogenic variants in the dysferlin (DYSF) gene. The prevalence of dysferlinopathies remains inadequately defined.
Fatimazahra Smaili +3 more
doaj +1 more source
On the role of dysferlin in striated muscle: membrane repair, t‐tubules and Ca2+ handling
The Journal of Physiology, Volume 602, Issue 9, Page 1893-1910, 1 May 2024.Abstract figure legend Cardiac and skeletal muscle share many structural and functional similarities and are both classified as striated muscle. Dysferlin plays a diverse role in supporting healthy striated muscle physiology. Due to its protective and regenerative capabilities, dysferlin is particularly important in response to muscle stress or damage.
C. J. Quinn +3 more
wiley +1 more source
Adaptive plasticity in the mouse mandible [PDF]
, 2014 BACKGROUND: Plasticity, i.e. non-heritable morphological variation, enables organisms to modify the shape of their skeletal tissues in response to varying environmental stimuli.
Anderson, Philip S L +2 more
core +6 more sources