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Article

7 Citations

9,975 Views

13 Pages

Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation

Xuan Phuoc Nguyen,
Adriana Vilkaite,
Birgitta Messmer,
Jens E. Dietrich and ,
Katrin Hinderhofer,
Knut Schäkel,
Thomas Strowitzki and
Julia Rehnitz
+ 3 authors+ 0 author

Genes2022, 13(3), 451;https://doi.org/10.3390/genes13030451

1 March 2022

Fragile X-associated primary ovarian insufficiency (FXPOI) is characterized by oligo/amenorrhea and hypergonadotropic hypogonadism and is caused by the expansion of the CGG repeat in the 5′UTR of Fragile X Mental Retardation 1 (FMR1). Approxima...

(This article belongs to the Special Issue Feature Papers: Molecular Genetics and Genomics)

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Review

11 Citations

7,038 Views

25 Pages

Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes

Luis M. Valor,
Jorge C. Morales,
Irati Hervás-Corpión and
Rosario Marín

Int. J. Mol. Sci.2021, 22(16), 8368;https://doi.org/10.3390/ijms22168368

4 August 2021

Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5’-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotr...

(This article belongs to the Special Issue Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies)

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