Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome.
about
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strandsFragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effectFragile X and X-linked intellectual disability: four decades of discoveryNew 5' regions of the murine and human genes for DNA (cytosine-5)-methyltransferaseCGG repeat in the FMR1 gene: size mattersMolecular and cellular genetics of fragile X syndrome.Molecular cloning and analysis of the fragile X region in manInheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutationA study of DNA methylation in myotonic dystrophy.Guidelines for the diagnosis of fragile X syndrome. National Fragile X FoundationMolecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth International Symposium on X Linked Mental Retardation, Strasbourg, France, 12 to 16 August 1991 (organiser Dr J-L Mandel)Genotype prediction in the fragile X syndrome.Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutationCharacterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation proteinInterruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structuresFMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.Studies of FRAXA and FRAXE in women with premature ovarian failure.Biology of the fragile X mental retardation protein, an RNA-binding protein.Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.A population-epigenetic model to infer site-specific methylation rates from double-stranded DNA methylation patterns.Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.Splitting and lumping in the nosology of XLMR.Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus.The biochemistry of memory: The 26year journey of a 'new and specific hypothesis'.Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure.Hairpin properties of single-stranded DNA containing a GC-rich triplet repeat: (CTG)15.Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutationThe fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Imprinting of human H19: allele-specific CpG methylation, loss of the active allele in Wilms tumor, and potential for somatic allele switching.Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.Fragile-X syndrome: unique genetics of the heritable unstable elementA microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.Characterization of FMR1 promoter elements by in vivo-footprinting analysis.The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure.Annotation: fragile X syndrome: advances and controversy.Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.Two new cases of FMR1 deletion associated with mental impairment.
P2860
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P2860
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
1991年论文
@zh
1991年论文
@zh-cn
name
Physical mapping across the fr ...... ion of the fragile X syndrome.
@en
type
label
Physical mapping across the fr ...... ion of the fragile X syndrome.
@en
prefLabel
Physical mapping across the fr ...... ion of the fragile X syndrome.
@en
P2093
P1433
P1476
Physical mapping across the fr ...... ion of the fragile X syndrome.
@en
P2093
Froster-Iskenius U
MacKinnon RN
Nakahori Y
Tommerup N
Tranebjaerg L
P304
P356
10.1016/0092-8674(91)90514-Y
P407
P577
1991-02-01T00:00:00Z