FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3179968354> ?p ?o ?g. }

• W3179968354 endingPage "312" @default.
• W3179968354 startingPage "305" @default.
• W3179968354 abstract "Fragile X syndrome (FXS), is an X-linked inherited genetic disease. FXS is the leading cause of inherited intellectual disability and autism in the world. Those affected are characterized by intellectual disability, language deficit, typical facies, and macroorchidism. Alterations in the FMR1 gene have been associated with FXS. The majority of people with this condition have an allele with an expansion of more than 200 repeats in a tract of CGGs within the 5' untranslated region, and this expansion is associated with a hypermethylated state of the gene promoter. FXS has incomplete penetrance and variable expressivity. Intellectual disability is present in 100% of males and 60% of females. Autism spectrum disorder symptoms appear in 50% to 60% of males and 20% of females. Other characteristics such as behavioral and physical alterations have significant variations in presentation frequency. The molecular causes of the variable phenotype in FXS patients are becoming clear: these causes are related to the FMR1 gene itself and to secondary, modifying gene effects. In FXS patients, size and methylation mosaicisms are common. Secondary to mosaicism, there is a variation in the quantity of FMR1 mRNA and the protein coded by the gene Fragile Mental Retardation Protein (FMRP). Potential modifier genes have also been proposed, with conflicting results. Characterizing patients according to CGG expansion, methylation status, concentration of mRNA and FMRP, and genotypification for possible modifier genes in a clinical setting offers an opportunity to identify predictors for treatment response evaluation. When intervention strategies become available to modulate the course of the disease they could be crucial for selecting patients and identifying the best therapeutic intervention. The purpose of this review is to present the information available about the molecular causes of the variability of the expression incomplete penetrance and variable expressivity in FXS and their potential clinical applications." @default.
• W3179968354 created "2021-07-19" @default.
• W3179968354 creator A5003915926 @default.
• W3179968354 creator A5020366372 @default.
• W3179968354 creator A5037764345 @default.
• W3179968354 date "2021-07-01" @default.
• W3179968354 modified "2023-10-14" @default.
• W3179968354 title "Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype" @default.
• W3179968354 cites W1604940996 @default.
• W3179968354 cites W1642338065 @default.
• W3179968354 cites W1968310221 @default.
• W3179968354 cites W1972708333 @default.
• W3179968354 cites W1972746354 @default.
• W3179968354 cites W1987832172 @default.
• W3179968354 cites W1996824414 @default.
• W3179968354 cites W2002780348 @default.
• W3179968354 cites W2007156391 @default.
• W3179968354 cites W2008270359 @default.
• W3179968354 cites W2020682391 @default.
• W3179968354 cites W2034014202 @default.
• W3179968354 cites W2036338927 @default.
• W3179968354 cites W2038171636 @default.
• W3179968354 cites W2040306383 @default.
• W3179968354 cites W2042310987 @default.
• W3179968354 cites W2046004724 @default.
• W3179968354 cites W2050042714 @default.
• W3179968354 cites W2054985002 @default.
• W3179968354 cites W2060294841 @default.
• W3179968354 cites W2078095916 @default.
• W3179968354 cites W2081639390 @default.
• W3179968354 cites W2097267337 @default.
• W3179968354 cites W2106750209 @default.
• W3179968354 cites W2108733962 @default.
• W3179968354 cites W2113643368 @default.
• W3179968354 cites W2116276594 @default.
• W3179968354 cites W2117342187 @default.
• W3179968354 cites W2122606472 @default.
• W3179968354 cites W2124879534 @default.
• W3179968354 cites W2130558981 @default.
• W3179968354 cites W2139322766 @default.
• W3179968354 cites W2141730098 @default.
• W3179968354 cites W2144995800 @default.
• W3179968354 cites W2145179745 @default.
• W3179968354 cites W2177046580 @default.
• W3179968354 cites W2207278236 @default.
• W3179968354 cites W2593686237 @default.
• W3179968354 cites W2601252625 @default.
• W3179968354 cites W2609789137 @default.
• W3179968354 cites W2621051481 @default.
• W3179968354 cites W2755528949 @default.
• W3179968354 cites W2759433538 @default.
• W3179968354 cites W2768619421 @default.
• W3179968354 cites W2885570758 @default.
• W3179968354 cites W2923019381 @default.
• W3179968354 cites W2946998699 @default.
• W3179968354 cites W2997491681 @default.
• W3179968354 cites W2998545185 @default.
• W3179968354 cites W2999199372 @default.
• W3179968354 cites W3006877085 @default.
• W3179968354 cites W3033558424 @default.
• W3179968354 cites W3036828776 @default.
• W3179968354 cites W3042621018 @default.
• W3179968354 cites W3052902836 @default.
• W3179968354 cites W3082379018 @default.
• W3179968354 cites W3087235829 @default.
• W3179968354 cites W3090730450 @default.
• W3179968354 cites W3092916129 @default.
• W3179968354 cites W3108511695 @default.
• W3179968354 cites W3118981370 @default.
• W3179968354 cites W4248896970 @default.
• W3179968354 cites W4313371708 @default.
• W3179968354 doi "https://doi.org/10.2147/tacg.s265835" @default.
• W3179968354 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8273740" @default.
• W3179968354 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34262328" @default.
• W3179968354 hasPublicationYear "2021" @default.
• W3179968354 type Work @default.
• W3179968354 sameAs 3179968354 @default.
• W3179968354 citedByCount "3" @default.
• W3179968354 countsByYear W31799683542022 @default.
• W3179968354 countsByYear W31799683542023 @default.
• W3179968354 crossrefType "journal-article" @default.
• W3179968354 hasAuthorship W3179968354A5003915926 @default.
• W3179968354 hasAuthorship W3179968354A5020366372 @default.
• W3179968354 hasAuthorship W3179968354A5037764345 @default.
• W3179968354 hasBestOaLocation W31799683541 @default.
• W3179968354 hasConcept C104317684 @default.
• W3179968354 hasConcept C116834253 @default.
• W3179968354 hasConcept C127716648 @default.
• W3179968354 hasConcept C134306372 @default.
• W3179968354 hasConcept C182365436 @default.
• W3179968354 hasConcept C33923547 @default.
• W3179968354 hasConcept C54355233 @default.
• W3179968354 hasConcept C59822182 @default.
• W3179968354 hasConcept C60644358 @default.
• W3179968354 hasConcept C70721500 @default.
• W3179968354 hasConcept C86803240 @default.
• W3179968354 hasConcept C92811239 @default.
• W3179968354 hasConceptScore W3179968354C104317684 @default.

• next