Literature DB >> 9719368

Studies of FRAXA and FRAXE in women with premature ovarian failure.

A Murray1, J Webb, S Grimley, G Conway, P Jacobs.   

Abstract

Recent reports suggest that women with FRAXA premutations have an increased likelihood of having premature ovarian failure (POF). We screened 147 women with idiopathic POF for the number of trinucleotide repeats at the FRAXA and FRAXE loci. We found six women with FRAXA premutations, including four familial and two sporadic cases, but no women with FRAXA full mutations. At the FRAXE locus there were no pre- or full mutations but there was an excess of small alleles with fewer than 11 repeats, including at least one small deletion at or near the triplet. The association of FRAXA premutations with POF confirms that premutation alleles can affect ovarian development or function or both.

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Year:  1998        PMID： 9719368      PMCID： PMC1051387          DOI： 10.1136/jmg.35.8.637

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  21 in total

1.  Fragile X premutations in familial premature ovarian failure.

Authors:  G S Conway; S Hettiarachchi; A Murray; P A Jacobs
Journal:  Lancet       Date:  1995-07-29       Impact factor: 79.321

2.  Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

Authors:  S J Knight; M A Voelckel; M C Hirst; A V Flannery; A Moncla; K E Davies
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

3.  Obstetrical and gynecological complications in fragile X carriers: a multicenter study.

Authors:  C E Schwartz; J Dean; P N Howard-Peebles; M Bugge; M Mikkelsen; N Tommerup; C Hull; R Hagerman; J J Holden; R E Stevenson
Journal:  Am J Med Genet       Date:  1994-07-15

4.  Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.

Authors:  K Aittomäki; J L Lucena; P Pakarinen; P Sistonen; J Tapanainen; J Gromoll; R Kaskikari; E M Sankila; H Lehväslaiho; A R Engel; E Nieschlag; I Huhtaniemi; A de la Chapelle
Journal:  Cell       Date:  1995-09-22       Impact factor: 41.582

5.  Genomic organization, chromosomal localization, and independent expression of human cyclin D genes.

Authors:  T Inaba; H Matsushime; M Valentine; M F Roussel; C J Sherr; A T Look
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736

Review 6.  Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature.

Authors:  C M Powell; R T Taggart; T C Drumheller; D Wangsa; C Qian; L M Nelson; B J White
Journal:  Am J Med Genet       Date:  1994-08-01

7.  Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

Authors:  F Rousseau; D Heitz; V Biancalana; S Blumenfeld; C Kretz; J Boué; N Tommerup; C Van Der Hagen; C DeLozier-Blanchet; M F Croquette
Journal:  N Engl J Med       Date:  1991-12-12       Impact factor: 91.245

8.  Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad.

Authors:  D Bächner; A Manca; P Steinbach; D Wöhrle; W Just; W Vogel; H Hameister; A Poustka
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

9.  A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

Authors:  H Meijer; E de Graaff; D M Merckx; R J Jongbloed; C E de Die-Smulders; J J Engelen; J P Fryns; P M Curfs; B A Oostra
Journal:  Hum Mol Genet       Date:  1994-04       Impact factor: 6.150

10.  Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

Authors:  F Rousseau; P Rouillard; M L Morel; E W Khandjian; K Morgan
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025
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  32 in total

1.  Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X.

Authors:  A M Vianna-Morgante; S S Costa
Journal:  Am J Hum Genet       Date:  2000-07       Impact factor: 11.025

2.  No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers.

Authors:  A Murray; S Ennis; N Morton
Journal:  Am J Hum Genet       Date:  2000-07       Impact factor: 11.025

3.  Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative trait loci influencing variation in human menopausal age.

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Journal:  Am J Hum Genet       Date:  2004-02-04       Impact factor: 11.025

4.  Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

Authors:  F Tassone; R J Hagerman; A K Taylor; L W Gane; T E Godfrey; P J Hagerman
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

5.  X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion.

Authors:  Rachel Adihe Lokanga; Xiao-Nan Zhao; Ali Entezam; Karen Usdin
Journal:  Hum Mol Genet       Date:  2014-05-08       Impact factor: 6.150

6.  Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.

Authors:  Claire E Bennett; Gerard S Conway; James N Macpherson; Patricia A Jacobs; Anna Murray
Journal:  Hum Reprod       Date:  2010-03-13       Impact factor: 6.918

Review 7.  The Repeat Expansion Diseases: The dark side of DNA repair.

Authors:  Xiao-Nan Zhao; Karen Usdin
Journal:  DNA Repair (Amst)       Date:  2015-04-30

8.  Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency.

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Journal:  J Histochem Cytochem       Date:  2012-04-02       Impact factor: 2.479

Review 9.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

10.  Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.

Authors:  D C Crawford; K L Meadows; J L Newman; L F Taft; D L Pettay; L B Gold; S J Hersey; E F Hinkle; M L Stanfield; P Holmgreen; M Yeargin-Allsopp; C Boyle; S L Sherman
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
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