Results 91 to 100 of about 15,002 (209)
PLoS ONE, 2016 Fragile X syndrome (FXS) is a common cause of intellectual disability that is most often due to a CGG-repeat expansion mutation in the FMR1 gene that triggers epigenetic gene silencing.
Nina Xie +5 more
doaj +1 more source
Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice. [PDF]
, 1995 Fragile X syndrome is one of the most common genetic causes of mental retardation, yet the mechanisms controlling expression of the fragile X mental retardation gene FMR1 are poorly understood.
Matsuo, K +6 more
core +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru +16 more
wiley +1 more source
Cell Reports, 2015 Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene.
Chul-Yong Park +7 more
doaj +1 more source
, 2007 L'espansione delle ripetizioni trinucleotidiche CGG (>200) nella regione 5' non tradotta (5'UTR) del gene FMR1 è la causa prevalente di ritardo mentale ereditario. Le donne portatrici e gli uomini portatori hanno ripetizioni espanse tra 55 e 200 (alleli
CARSANA, ANTONELLA
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American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler +5 more
wiley +1 more source
A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse
, 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.
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Serotonin 5‐HT7 receptor signaling in neuropsychiatric disorders
Bulletin of the Korean Chemical Society, Volume 47, Issue 6, Page 698-710, June 2026.5‐HT7R recruits Gs, G12, and β‐arrestin signaling to regulate neuronal plasticity, circuit function, and kinase‐linked intracellular responses. This review summarizes how these pathway‐selective modules contribute to autism spectrum disorder, depression, and schizophrenia, highlighting 5‐HT7R as a pathway‐informed therapeutic target. Abstract Serotonin
Eunseo Park, Hyunah Choo
wiley +1 more source
Decreased FMR1 mRNA levels found in men with substance use disorders
Heliyon, 2020 FMR1 gene (fragile X mental retardation 1) represents a genetic and epigenetic factor in a number of human diseases. Though the role of FMR1 gene in substance use disorders (SUDs) is not well studied, a number of investigations indicate that SUDs and ...
Maria Krasteva +6 more
doaj +1 more source
Alternative splicing of the FMR1 gene in human tissues of fetal and adult
, 1999 To study the time- and tissue-specificity of alternative splicing of the FMR1 gene, we analyzed the alternative splicing pattern of the FMR1 gene in human tissues from adult and fetus using RT-PCR coupled with capillary electrophoresis. Seven alternative
Li, LY +9 more
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