Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers

Human Molecular Genetics

Volumn 10, Issue 14, 2001, Pages 1449-1454

  Kenneson, Aileen ^a   Zhang, Fuping ^a   Hagedorn, Curt H ^a   Warren, Stephen T ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; FRAGILE X MENTAL RETARDATION PROTEIN; GUANINE; RNA BINDING PROTEIN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ALLELE; ARTICLE; ASSAY; BIOCHEMISTRY; COGNITIVE DEFECT; CONTROLLED STUDY; FRAGILE X SYNDROME; GENE MUTATION; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; HUMAN CELL; MENTAL DEFICIENCY; PENETRANCE; PHENOTYPE; POPULATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PSYCHOSOCIAL DISORDER; TRINUCLEOTIDE REPEAT;

EID: 0035394437     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.14.1449     Document Type: Article

References (48)

1. Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein
2. The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals
3. FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association
4. Absence of expression of the FMR-1 gene in fragile X syndrome
5. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
6. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
7. Advances in molecular analysis of fragile X syndrome
8. Is autism associated with the fragile X syndrome?
9. Is fragile X syndrome a pervasive developmental disability? Cognitive ability and adaptive behavior in males with the full mutation
10. Autism is associated with the fragile-X syndrome
11. Association of fragile X syndrome with autism
12. Fragile X syndrome, DSM-III-R, and autism
13. Psychiatric disability in female carriers of the fragile X chromosome
14. Psychiatric disorders associated with fragile X in the young female
15. Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?
16. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
17. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB 12.3: The first 2, 253 cases
18. Emotional and neurocognitive deficits in fragile X
19. Neurobehavioral characteristics of CGG amplification status in fragile X females
20. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
21. Symptoms of schizotypal personality disorder in fragile X women
22. Molecular/clinical correlations in females with fragile X
23. Behavioral and psychiatric disorders in adult male carriers of fragile X
24. A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome
25. Transmitting males and carrier females in fragile X-revisited
26. Phenotypic involvement in females with the FMR1 gene mutation
27. Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers
28. FRAXA and FRAXE: The results of a five year survey
29. Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features
30. Obstetrical and gynecological complications in fragile X carriers: A multicenter study
31. Fragile X premutations is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data
32. Premature ovarian failure (POF) and fragile X premutation females: From POF to fragile X carrier identification, from fragile X carrier diagnosis to POF association data
33. Learning-disabled males with a fragile X CGG expansion in the upper premutation size range
34. Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome
35. FMRP expression as a potential prognostic indicator in fragile X syndrome
36. Clinical involvement and protein expression in individuals with the FMR1 premutation
37. Expression of functional eIF4E human: Purification, detailed characterization, and its use in isolating eIF-4e binding proteins
38. Identification and quantification of levels of protein synthesis initiation factors in crude HeLa cell lysates by two-dimensional polyacrylamide gel electrophoresis
39. Regulated phosphorylation and low abundance of HeLa cell initiation factor eIF-4F suggest a role in translational control. Heat shock effects on eIF-4F
40. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
41. A point mutation in the FMR-1 gene associated with fragile X mental retardation
42. FMR1 protein: Conserved RNP family domains and selective RNA binding
43. Translational suppression by trinucleotide repeat expansion at FMR1
44. Transcription of the FMR1 gene in individuals with fragile X syndrome
45. Sequence-specific RNA binding by a Nova KH domain: Implications for paraneoplastic disease and the fragile X syndrome
46. FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association
47. Janus effects of premutation size CGG repeats on gene expression
48. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation