, 2014 Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián +5 more
core +1 more source
The Role of Wnt Signaling in Age‐Related Alveolar Bone Loss and Regeneration
Journal of Periodontal Research, EarlyView.The graphical abstract summarizes key signaling pathways involved in bone formation and resorption associated with Wnt signaling across young and aged long bone and jaw tissues. Levels of evidence are indicated as robust, moderate, or emerging, reflecting the current experimental support in each context.
Hsiao H. Sung +12 more
wiley +1 more source
The monstrous feminine : media representations of women who commit crime in New Zealand : a thesis presented in partial fulfilment for the degree of Master of Arts in Psychology, Massey University, Albany, New Zealand [PDF]
, 2016 Women who have committed crime appear to be portrayed by the media as sick, deviant and/or dangerous and positioned as the monstrous feminine, deviant from natural womanhood.
Mackie, Emma
core
Home Safe Home: Safety Gains Through Telework During the Covid‐19 Pandemic
LABOUR, EarlyView.ABSTRACT This paper exploits exogenous shifts in work organisation during the Covid‐19 pandemic to study the implications of hybrid and remote work arrangements on occupational safety. Combining accident registers and household survey microdata from Hungary, we are able to address potential selection and reporting bias, and reliably identify the ...
Bálint Menyhért, Szilárd Erhart
wiley +1 more source
Genetics and Molecular BiologyLeigh syndrome is an early onset progressive disorder caused by defects in mitochondrial oxidative phosphorylation. Pathogenic variants in nuclear and mitochondrial genes are associated with the syndrome.
Eduardo Perrone +13 more
doaj +1 more source
Psychosocial and Biological Factors Contributing to Body Weight Gain in Schizophrenia [PDF]
, 2011 Overweight and obesity are frequently reported to be a significant issue in schizophrenia resulting in the inherent complications of these disorders.
Pai, NB, Vella, SC
core +2 more sources
Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. [PDF]
, 2020 BackgroundThe purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (
Abbeduto, Leonard +10 more
core
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]
, 2010 Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O +15 more
core +2 more sources
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 3, June 2026.ABSTRACT Background Patients with end‐stage liver disease (ESLD) often present with sarcopenia, defined as loss of skeletal muscle mass and quality, which is associated with reduced quality of life and increased mortality. However, the molecular mechanisms driving sarcopenia in ESLD are not fully understood and there are currently no therapeutic ...
Thomas Nicholson +16 more
wiley +1 more source
Schizophrenia and Leigh syndrome, a simple comorbidity or the same etiopathogeny: about a case
The Pan African Medical Journal, 2015 Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency". Few psychiatric disorders have been defined that are associated with Leigh syndrome.
Leila Mnif1, Rim Sellami +1 more
doaj +1 more source