Results 141 to 150 of about 10,642 (179)

Quality Over Quantity? Family Medicine Residency Applications in the Postpandemic Era. [PDF]

PRiMER
Skariah JM, Roper W, Gilbert K, Gobel J, Schneider B.   +4 more
europepmc   +1 more source

Delayed structural maturation of inner hair cell ribbon synapses in a mouse model of fragile X syndrome. [PDF]

Front Mol Neurosci
Chojnacka M, Skupien-Jaroszek A, Dziembowska M.   +2 more
europepmc   +1 more source

FMRP RNA targets: identification and validation [PDF]

Genes, Brain and Behavior, 2005
The Fragile X Syndrome is caused by the loss of function of the FMR1 gene (Pieretti et al. 1991. Cell 66, 817–822; O'Donnell & Warren 2002. Annu Rev Neurosci 25, 315–338]. Identification of the RNA targets to which FMRP binds is a key step in understanding the function of the protein and the cellular defects caused by its absence (Darnell et al ...
Robert Darnell
exaly   +3 more sources

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FMRP ribonucleoprotein complexes and RNA homeostasis

2020
The Fragile Mental Retardation 1 gene (FMR1), at Xq27.3, encodes the fragile mental retardation protein (FMRP), and displays in its 5'-untranslated region a series of polymorphic CGG triplet repeats that may undergo dynamic mutation. Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability among men, and is most frequently due
Gabriela Aparecida Marcondes, Suardi, Luciana Amaral, Haddad   +1 more
openaire   +2 more sources

The developmental roles of FMRP

Biochemical Society Transactions, 2010
FXS (Fragile X syndrome) is the most common genetically inherited form of cognitive impairment. The predominant cause of the syndrome is the loss of a single protein, FMRP (Fragile X mental retardation protein). Many of the cognitive and behavioural features found in Fragile X individuals emerge during childhood and are associated with abnormal ...
openaire   +2 more sources

On the aggregation properties of FMRP – a link with the FXTAS syndrome?

The FEBS Journal, 2011
Fragile X mental retardation protein (FMRP) is an RNA binding protein necessary for correct spatiotemporal control of neuronal gene expression in humans. Lack of functional FMRP causes fragile X mental retardation, which is the most common inherited neurodevelopmental disorder in humans. In a previous study, we described the biochemical and biophysical
Sjekloca Ljiljana, Pauwels Kris, Pastore A   +2 more
openaire   +3 more sources

Phenotypic variation and FMRP levels in fragile X

Mental Retardation and Developmental Disabilities Research Reviews, 2004
AbstractData on the relationships between cognitive and physical phenotypes, and a deficit of fragile X mental retardation 1 (FMR1) gene‐specific protein product, FMRP, are presented and discussed in context with earlier findings. The previously unpublished results obtained, using standard procedures of regression and correlations, showed highly ...
Loesch-Mdzewska, Danuta., Hagerman, Randi Jenssen., Huggins, Richard.   +2 more
openaire   +2 more sources

FMRP Depletion Reprograms an Immunosuppressive Microenvironment

Cancer Discovery, 2023
Abstract Cancer cell expression of the RNA binding protein FMRP promotes the suppression of CD8+ T cells.
openaire   +1 more source

Reelin, GABA, FMRP, and Autism

2015
Autism is a heterogeneous neurodevelopmental disorder. The etiology of autism remains unknown although both genetic and environmental factors are likely to be involved. These factors disrupt the course of normal brain development from the cellular to the gross anatomical levels.
Timothy D. Folsom, S. Hossein Fatemi
openaire   +1 more source