Results 61 to 70 of about 28,100 (214)

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, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells.

PLoS Genetics, 2010
Fragile X syndrome (FXS), the most common form of inherited mental retardation, is caused by the loss of functional fragile X mental retardation protein (FMRP). FMRP is an RNA-binding protein that can regulate the translation of specific mRNAs.
Yuping Luo, Ge Shan, Weixiang Guo, Richard D Smrt, Eric B Johnson, Xuekun Li, Rebecca L Pfeiffer, Keith E Szulwach, Ranhui Duan, Basam Z Barkho, Wendi Li, Changmei Liu, Peng Jin, Xinyu Zhao   +13 more
doaj   +1 more source

BOLL‐Containing Aggregates Mediate the Translational Regulation During Human Oogenesis

Cell Proliferation, EarlyView.
This work elucidates that BOLL‐containing aggregate‐mediated translational control is essential for human oogenesis. These aggregates recruit PABPC1 and FXR1 to activate the translation of U‐rich mRNAs encoding cell cycle proteins, thereby ensuring successful meiotic progression.
Ying Li, Lingya Mao, Boyuan Liang, Longxin Xie, Wenpei Xiang, Kehkooi Kee   +5 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  

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, Stackpole, Emily E, Truszkowski, Torrey L S, Midroit, Maëllie, Fallon, Justin R, Bath, Kevin G   +5 more
openaire   +3 more sources

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, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Hair root FMRP expression for screening of fragile X full mutation females [PDF]

Universa Medicina, 2011
The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome.
Lantip Rujito, Dwi Kustiani, Lies Anne Severijnen, Peter Hanzon, Sultana MH Faradz, Rob Willemsen   +5 more
doaj  

Alterations of Amino Acids and Monoamine Metabolism in Male Fmr1 Knockout Mice: A Putative Animal Model of the Human Fragile X Mental Retardation Syndrome

Neural Plasticity, 2001
The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) geneleading to the absence of the encoded fragile X mental retardation protein 1 (FMRP).
Michael Gruss, Katharina Braun
doaj   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

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, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses. [PDF]

, 2014
BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Ashwood, Paul, Berman, Robert F, Careaga, Milo, Hagerman, Randi, Rose, Destanie, Tassone, Flora   +5 more
core   +2 more sources