A single base alteration in the CGG repeat region of FMR1: Possible effects on gene expression and phenotype [4]

Journal of Medical Genetics

Volumn 39, Issue 3, 2002, Pages 196-200

  Tarleton, Jack ^a   Kenneson, A ^a   Taylor, A K ^a   Crandall, K ^a   Fletcher, R ^a   Casey, R ^a   Hart, P S ^a   Hatton, D ^a   Fisch, G ^a   Warren, S T ^a  

^a Mission St Joseph's Health System   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; FRAGILE X MENTAL RETARDATION PROTEIN; GENE PRODUCT; GUANINE;

CASE REPORT; DISEASE ASSOCIATION; DISEASE TRANSMISSION; FRAGILE X SYNDROME; GENE EXPRESSION; GENE LOSS; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION;

BASE SEQUENCE; BLOTTING, SOUTHERN; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE EXPRESSION REGULATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PHENOTYPE; POINT MUTATION; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 18344388280     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (20)

1. Physical and behavioral phenotype
2. Fragile X syndrome and deletions in FMR1: New case and review of the literature
3. A point mutation in the FMR-1 gene associated with fragile X mental retardation
4. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome
5. Advances in molecular analysis of fragile X syndrome
6. Absence of expression of the FMR-1 gene in fragile X syndrome
7. Rapid antibody test for diagnosing fragile X syndrome: A validation of the technique
8. FMRP expression as a potential prognostic indicator in fragile X syndrome
9. Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA
10. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
11. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
12. Fragile X syndrome without CCG amplification has an FMR1 deletion
13. Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
14. Longitudinal study of cognitive abilities and adaptive behavior in fragile X males: A prospective multicenter analysis
15. Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein
16. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG-repeat number in intermediate-length and premutation carriers
17. The FMR1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of fragile X premutation
18. Expression of functional elF-4Ehuman: Purification, detailed characterization, and its use in isolating elF-4E binding proteins
19. The human 20-kDa 5′-(CGG)(n)-3′-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter
20. Rare variants in the promoter of the fragile X syndrome gene (FMR1)