1. Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls
- Author
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Corrine K. Welt, Mei Zheng, John J. DeCaro, Martin C. Chang, Marla Gearing, Stephanie L. Sherman, and Lisa Shubeck
- Subjects
Adult ,Heterozygote ,congenital, hereditary, and neonatal diseases and abnormalities ,Pathology ,medicine.medical_specialty ,Histology ,Ataxia ,Intranuclear Inclusion Bodies ,Primary ovarian insufficiency ,Disease ,Primary Ovarian Insufficiency ,Article ,Immunophenotyping ,Pathology and Forensic Medicine ,Fragile X Mental Retardation Protein ,Ubiquitin ,medicine ,Humans ,Aged ,biology ,Heterozygote advantage ,General Medicine ,medicine.disease ,Immunohistochemistry ,FMR1 ,nervous system diseases ,Fragile X syndrome ,Fragile X Syndrome ,biology.protein ,Female ,medicine.symptom - Abstract
Sir: The fragile X premutation, an expansion of a CGG triplet repeat in the 5′-untranslated region of the FMR1 gene (55–200 repeats), is one of the most common aetiologies of primary ovarian insufficiency: fragile X-associated primary ovarian insufficiency (FXPOI).1–3 Men who carry the premutation are at increased risk for a late-onset neurodegenerative disorder termed fragile X tremor/ataxia syndrome (FXTAS).4 In premutation carriers, FMR1 is transcribed at increased levels, and the large rCGG tracks may cause disease by acting in a toxic gain of function manner.5–8
- Published
- 2011
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