Results 61 to 70 of about 28,384 (213)
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, EarlyView.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
Fragile X Syndrome: Steps towards Therapy [PDF]
, 2013 In a continuously developing society we are still confronted with intellectual disability (ID) and autism around us with quite a high prevalence. 1 in 88 children is diagnosed with autism spectrum disorder (ASD), while 2-3% of the general population is
Pop, A.S. (Andreea)
core
A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]
, 2004 Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core +1 more source
Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
wiley +1 more source
The research progress on the role of FMRP in the pathogenesis of tumors
Pifu-xingbing zhenliaoxue zazhi, 2023 Fragile X mental retardation protein (FMRP) is a selective RNA-binding protein that is highly expressed in neurons and influences cytoskeletal remodeling, cell-cell signal transduction and interactions.
Huizhi YANG +5 more
doaj +1 more source
, 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
How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle
Psychiatry and Clinical Neurosciences, EarlyView.Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang +3 more
wiley +1 more source
Fragile X Mental Retardation Protein Regulates Olfactory Sensitivity But Not Odorant Discrimination [PDF]
Chemical Senses, 2015 Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and is characterized by cognitive impairments and altered sensory function. It is caused by absence of fragile X mental retardation protein (FMRP), an RNA-binding protein essential for normal synaptic plasticity and function.
Schilit Nitenson, Arielle +5 more
openaire +3 more sources
DNA methylation and trinucleotide repeat expansion diseases [PDF]
, 2012 Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core +1 more source
Experimental Physiology, EarlyView.Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė +10 more
wiley +1 more source