The fragile X premutation: Into the phenotypic fold

Current Opinion in Genetics and Development

Volumn 12, Issue 3, 2002, Pages 278-283

  Hagerman, Randi J ^a   Hagerman, Paul J ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; FRAGILE X MENTAL RETARDATION PROTEIN; MESSENGER RNA; FMR1 PROTEIN, HUMAN; NERVE PROTEIN; RNA BINDING PROTEIN;

AGE; ALLELE; ATAXIA; FRAGILE X SYNDROME; GENE CONTROL; GENETIC STABILITY; HETEROZYGOTE; HUMAN; MORPHOLOGICAL TRAIT; MUTATIONAL ANALYSIS; NUCLEOTIDE REPEAT; OVARY DISEASE; PREVALENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; SEX DIFFERENCE; TREMOR; FEMALE; GENETICS; MUTATION; PREMATURE OVARIAN FAILURE;

ATAXIA;

FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MUTATION; NERVE TISSUE PROTEINS; OVARIAN FAILURE, PREMATURE; PREVALENCE; RNA-BINDING PROTEINS;

EID: 0036591683     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(02)00299-X     Document Type: Review

References (51)

1. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
2. The molecular biology of the fragile X mutation
3. Familial transmission of the FMR1 CGG repeat
4. Epidemiology
5. Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
6. Screening for fragile X syndrome in women of reproductive age
7. Prevalence of carriers of premutation-size alleles of the FMRI gene - And implications for the population genetics of the fragile X syndrome
8. No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers
9. Surprisingly low prevalance of FMR1 premutation among males from the general population [Abstract 188]
10. Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype
11. Assessment of Fragile X premutation incidence in an Italian population: Lessons for population screening
12. The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity
13. Neurobehavioral effects of the fragile X premutation in adult women: A controlled study
14. Profile of cognitive functioning in women with the fragile X mutation
15. Discourse processing in women with fragile X syndrome: Evidence for a deficit establishing coherence
16. No widespread psychological effect of the fragile X premutation in childhood: Evidence from preliminary controlled study
17. Molecular/clinical correlations in females with fragile X
18. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
19. Neurobehavioral phenotype in carriers of the fragile X premutation
20. Learning-disabled males with a fragile X CGG expansion in the upper premutation size range
21. Clinical involvement and protein expression in individuals with the FMR1 premutation
22. Transcription of the FMR1 gene in individuals with fragile X syndrome
23. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in fragile X syndrome
24. Obstetrical and gynecological complications in fragile X carriers: A multicenter study
25. Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study- preliminary data
26. 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
27. Association between idiopathic premature ovarian failure and fragile X premutation
28. Menstrual disorders and endocrine profiles in fragile X carriers prior to 40 years of age: A pilot study
29. Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives
30. Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations
31. Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X
32. Intention tremor, Parkinsonism, and generalized brain atrophy in male carriers of fragile X
33. FMRP expression as a potential prognostic indicator in fragile X syndrome
34. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
35. Absence of expression of the FMR-1 gene in fragile X syndrome
36. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
37. Translational suppression by trinucleotide repeat expansion at FMR1
38. 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?
39. Human and murine FMR-1: Alternative splicing and translational initiation downstream of the CGG-repeat
40. Interruption 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 structures
41. The 5'-untranslated region of the FMR1 message facilitates translation by internal ribosome entry
42. Internal initiation of translation of eukaryotic mRNA directed by a sequence derived from poliovirus RNA
43. A segment of the 5' nontranslated region of encephalomyocarditis virus RNA directs internal entry of ribosomes during in vitro translation
44. Internal initiation of translation of five dendritically localized neuronal mRNAs
45. Neuropathology and neurodegenerative features in some older male premutation carriers of fragile X syndrome
46. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
47. Adult fragile X syndrome. Clinico-neuropathologic findings
48. Analysis of neocortex in three males with the fragile X syndrome
49. Postmortem examination of two fragile X brothers with an FMR1 full mutation
50. Pathological and neuropathological findings in two males with fragile X syndrome
51. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination