Results 121 to 130 of about 28,649 (270)
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 +5 more
doaj
Epilepsia, EarlyView.Abstract Objective Mutations of the DEP Domain Containing 5 gene (DEPDC5), a mechanistic Target of Rapamycin (mTOR) inhibitor involved in amino acid sensing, are associated with neurological diseases such as epilepsy and/or autism spectrum disorder (ASD). Loss of DEPDC5 impacts early neuronal development via mTOR hyperactivity.
Mattson S. O. Jones +14 more
wiley +1 more source
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
Lipedema: Progress, Challenges, and the Road Ahead
Obesity Reviews, EarlyView.ABSTRACT Introduction Lipedema is a chronic and progressive disease that predominantly affects women, characterized by a disproportionate increase in subcutaneous adipose tissue (AT), particularly in the lower limbs. It is associated with significant physical disability, chronic pain, thromboembolism, and psychosocial distress.
Vincenza Cifarelli
wiley +1 more source
The Fragile X Mental Retardation Protein in Circadian Rhythmicity and Memory Consolidation [PDF]
Molecular Neurobiology, 2009 The control of new protein synthesis provides a means to locally regulate the availability of synaptic components necessary for dynamic neuronal processes. The fragile X mental retardation protein (FMRP), an RNA-binding translational regulator, is a key player mediating appropriate synaptic protein synthesis in response to neuronal activity levels ...
Kendal Broadie, Cheryl L Gatto
openaire +3 more sources
Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2. [PDF]
PLoS ONE, 2010 Expansion of the CGG trinucleotide repeat in the 5'-untranslated region of the FMR1, fragile X mental retardation 1, gene results in suppression of protein expression for this gene and is the underlying cause of Fragile X syndrome.
Melanie A Adams-Cioaba +8 more
doaj +1 more source
Psychiatry and Clinical Neurosciences, EarlyView.Aim A GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is a genetic cause of Neuronal Intranuclear Inclusion Disease (NIID) that exhibits cognitive, motor, and autonomic dysfunction. Our objective is to determine whether there are undiagnosed NIID cases in a psychiatry‐based dementia‐enriched cohort and to identify their clinical ...
Tesshin Miyamoto +15 more
wiley +1 more source
The development of cortical columns: role of Fragile X mental retardation protein [PDF]
The Journal of Physiology, 2009 Neuronal circuits in the brain are complex and precise. Here, I review aspects of the development of cortical columns in the rodent barrel cortex, focusing on the anatomical and functional data describing the maturation of ascending glutamatergic circuits.
openaire +4 more sources
Frontiers in Synaptic Neuroscience, 2018 Dopamine receptors and related signaling pathways have long been implicated in pathophysiology and treatment of mental illnesses, including schizophrenia and bipolar disorder.
Jivan Khlghatyan +3 more
doaj +1 more source
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