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Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion 

Gomes Prereira, Mario; James D., Hilley; Morales Montero, Fernando; Berit, Adam; James, Helen E.; Monckton, Darren G. (Nucleic Acids Research 42(11) p. 7047–7056, 2014-05-01)
Genetically unstable expanded CAG·CTG trinucleotide repeats are causal in a number of human disorders, including Huntington disease and myotonic dystrophy type 1. It is still widely assumed that DNA polymerase slippage ...

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients 

Morales Montero, Fernando; Vásquez Cerdas, Melissa; Santamaría Ulloa, Carolina; Cuenca Berger, Patricia; Corrales Acuña, Eyleen Vanessa; Monckton, Darren G. (2016-04)
Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-dependent, tissuespecific and expansion-biased, contributing toward the tissue-specificity and progressive nature of the symptoms. Previously, ...
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Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1 

Morales Montero, Fernando; Vásquez Cerdas, Melissa; Cuenca Berger, Patricia; Campos Ramírez, Domingo; Santamaría Ulloa, Carolina; del Valle Carazo, Gerardo; Brian Gago, Roberto; Sittenfeld Appel, Mauricio; Monckton, Darren G. (European Journal of Human Genetics p.1-8, 2014-07-23)
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated ...
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High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations 

Higham, Catherine; Morales Montero, Fernando; Cobbold, Christina; Haydon, Daniel; Monckton, Darren G. (Human Molecular Genetics, 2012, Vol. 21, No. 11 2450–2463, 2012-02-24)
Several human genetic diseases are associated with inheriting an abnormally large unstable DNA simple sequence repeat. These sequences mutate, by changing the number of repeats, many times during the lifetime of those ...
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Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity 

Higham, Catherine; Hogg, Grant; Braida, Claudia; del Valle Carazo, Gerardo; Brian Gago, Roberto; Sittenfeld Appel, Mauricio; Ashizawa, Tetsuo; Wilcox, Alison; Couto, Jillian M.; Morales Montero, Fernando; Cuenca Berger, Patricia; Wilson, Richard H.; Adam, Berit; Wilcox, Dougals E.; Monckton, Darren G. (Human Molecular Genetics, 2012 Vol. 21, No. 16. 3558–3567, 2012-05-30)
Deciphering the contribution of genetic instability in somatic cells is critical to our understanding of many human disorders. Myotonic dystrophy type 1 (DM1) is one such disorder that is caused by the expansion of a CTG ...
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MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1 

Flower, Michael; Lomeikaite, Vilija; Ciosi, Marc; Cumming, Sarah; Morales Montero, Fernando; Lo, Kitty; Hensman Moss, Davina; Jones, Lesley; Holmans, Peter A.; TRACK-HD Investigators; OPTIMISTIC Consortium; Monckton, Darren G.; Tabrizi, Sarah J. (2019-07)
Huntington’s disease and myotonic dystrophy type 1. A recent Huntington’s disease genome-wide association study found rs557874766, an imputed single nucleotide polymorphism located within a polymorphic 9 bp tandem repeat ...
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Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset 

Morales Montero, Fernando; Vásquez Cerdas, Melissa; Corrales Acuña, Eyleen Vanessa; Vindas Smith, Rebeca; Santamaría Ulloa, Carolina; Zhang, Baili; Sirito, Mario; Estecio, Marcos Roberto; Krahe, Ralf; Monckton, Darren G. (2020-06-30)
In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG)n repeat expansion is age-dependent, tissue-specific and expansion-biased. These features contribute toward variation in disease severity and confound ...

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent 

Morales Montero, Fernando; Corrales Acuña, Eyleen Vanessa; Zhang, Baili; Vásquez Cerdas, Melissa; Santamaría Ulloa, Carolina; Quesada Leitón, Hazel; Sirito, Mario; Estecio, Marcos Roberto; Monckton, Darren G.; Krahe, Ralf (2021)
Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between mutant CTG repeat expansion size and clinical outcome remains unclear. DM1 congenital patients (CDM) ...

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Monckton, Darren G. (8)
Morales Montero Fernando (8)
Santamaría Ulloa, Carolina (4)Vásquez Cerdas, Melissa (4)Cuenca Berger, Patricia (3)Brian Gago, Roberto (2)Corrales Acuña, Eyleen Vanessa (2)Del Valle Carazo, Gerardo (2)Estecio, Marcos Roberto (2)Higham, Catherine (2)... View MoreTypeartículo científico (8)ProcedenceVicerrectoría de Investigación (8)Vicerrectoría de Docencia (1)... View MoreHas File(s)Yes (8)

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