Results 171 to 180 of about 15,002 (209)

Expression of the FMR1 gene

Cytogenetic and Genome Research, 2003
Fragile X syndrome is a trinucleotide repeat disorder in which a (CGG)_n element located within the 5′ untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene expands to more than 200 copies (full mutation) and becomes hypermethylated.
F, Tassone, P J, Hagerman
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The CGG Repeat and the FMR1 Gene

2013
This chapter intends to provide the different DNA and protein methods for analysis of the repeat in the FMR1 gene, both in humans and in mouse models. The methods to determine the CGG repeat size include Southern blot analysis, polymerase chain reaction (PCR), and methylation status analysis, including bisulfite treatment.
Hukema, Renate, Oostra, Ben
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Fine structure of the human FMR1 gene

Human Molecular Genetics, 1993
The fragile X syndrome is due to a CGG triplet expansion in the first exon of FMR1, resulting in hypermethylation and extinction of gene expression. To further our understanding of the gene's involvement in the syndrome, we report the physical structure of this locus. A high resolution restriction map of the FRAX(A) locus has been prepared encompassing
E E, Eichler, S, Richards, R A, Gibbs, D L, Nelson   +3 more
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Deletion in the FMR1 gene in a fragile-X male

American Journal of Medical Genetics, 1996
The pathogenesis of Fragile-X syndrome is a consequence of absence of the FMR1 gene product associated with expansion of the CGG repeat and abnormal methylation of this and a CpG island 250 bp proximal to the CGG repeat located at exon 1 in the FMR1 gene.
A, Mannermaa, L, Pulkkinen, E, Kajanoja, M, Ryynänen, S, Saarikoski   +4 more
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Phenotypic Involvement in Females With the FMR1 Gene Mutation

American Journal on Mental Retardation, 1997
Fragile X syndrome is the most common from of inherited mental retardation. Approximately half of females with the full mutation have significant cognitive deficits, whereas females with the premutation do not. Phenotypic effects seen in 281 females (IQs from 64 to 139) were analyzed.
J E, Riddle, A, Cheema, W E, Sobesky, S C, Gardner, A K, Taylor, B F, Pennington, R J, Hagerman   +6 more
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Contribution of the FMR1 gene mutation to human intellectual dysfunction

Nature Genetics, 1995
The degree to which genetic factors influence human intelligence remains a matter of some controversy. However, there is little doubt that single gene mutations can significantly alter brain development and function. For example, mutations affecting the FMR1 gene cause the fragile X syndrome, the most prevalent known inherited cause of intellectual ...
A L, Reiss, L S, Freund, T L, Baumgardner, M T, Abrams, M B, Denckla   +4 more
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Premature Ovarian Failure and the FMR1 Gene

Seminars in Reproductive Medicine, 2000
FMR1 is an X-linked gene that codes for an RNA binding protein. Expansion of a triplet repeat within exon 1 of the gene causes the fragile X syndrome, which is characterized by mental retardation and various physical anomalies. The triplet repeat in FMR1 can expand to varying degrees.
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Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene

Development Genes and Evolution, 2005
Fragile X syndrome is the most common inherited form of mental retardation. It is caused by the lack of the Fragile X Mental Retardation Protein (FMRP), which is encoded by the FMR1 gene. Although Fmr1 knockout mice display some characteristics also found in fragile X patients, it is a complex animal model to study brain abnormalities, especially ...
Padje van 'T, S, Engels, BM (Bart), Blonden, Lau, Severijnen, Lies-anne, Verheijen, Frans, Oostra, Ben, Willemsen, Rob   +6 more
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The CGG repeat and the FMR1 gene.

Methods in molecular biology (Clifton, N.J.), 2004
This review intends to provide the different DNA methods for diagnosis of the repeat in the FMR1 gene. The two DNA methods to determine the CGG repeat size are Southern blot hybridization and the polymerase chain reaction (PCR), including bisulfite treatment.
Stoyanova, V (Violeta), Oostra, Ben
openaire   +2 more sources