Repeat instability during DNA repair: Insights from model systems
K Usdin, NCM House… - Critical reviews in …, 2015 - Taylor & Francis
The expansion of repeated sequences is the cause of over 30 inherited genetic diseases,
including Huntington disease, myotonic dystrophy (types 1 and 2), fragile X syndrome, many …
including Huntington disease, myotonic dystrophy (types 1 and 2), fragile X syndrome, many …
Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes
K Yum, ET Wang, A Kalsotra - Current opinion in genetics & development, 2017 - Elsevier
Highlights•Distinct mechanisms for repeat expansion in mitotic and post-mitotic tissues of
DM patients.•Overview of the diagnostic methodologies for measuring repeat lengths in …
DM patients.•Overview of the diagnostic methodologies for measuring repeat lengths in …
Disease-associated short tandem repeats co-localize with chromatin domain boundaries
More than 25 inherited human disorders are caused by the unstable expansion of repetitive
DNA sequences termed short tandem repeats (STRs). A fundamental unresolved question is …
DNA sequences termed short tandem repeats (STRs). A fundamental unresolved question is …
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
C9orf72 promoter hypermethylation inhibits the accumulation of pathologies which have
been postulated to be neurotoxic. We tested here whether C9orf72 hypermethylation is …
been postulated to be neurotoxic. We tested here whether C9orf72 hypermethylation is …
MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice
Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to
ongoing disease progression through an affected individual's life with Huntington's disease …
ongoing disease progression through an affected individual's life with Huntington's disease …
Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a
number of genetic diseases. Sanger sequencing and next-generation short-read …
number of genetic diseases. Sanger sequencing and next-generation short-read …
Regulation of recombination at yeast nuclear pores controls repair and triplet repeat stability
Secondary structure-forming DNA sequences such as CAG repeats interfere with replication
and repair, provoking fork stalling, chromosome fragility, and recombination. In budding …
and repair, provoking fork stalling, chromosome fragility, and recombination. In budding …
CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy
L Barbé, S Lanni, A López-Castel, S Franck… - The American Journal of …, 2017 - cell.com
CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of
severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct …
severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct …
FAN1, a DNA repair nuclease, as a modifier of repeat expansion disorders
FAN1 encodes a DNA repair nuclease. Genetic deficiencies, copy number variants, and
single nucleotide variants of FAN1 have been linked to karyomegalic interstitial nephritis …
single nucleotide variants of FAN1 have been linked to karyomegalic interstitial nephritis …
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues
A López Castel, M Nakamori, S Tome… - Human molecular …, 2011 - academic.oup.com
Myotonic dystrophy (DM1) affects multiple organs, shows age-dependent progression and is
caused by CTG expansions at the DM1 locus. We determined the DM1 CpG methylation …
caused by CTG expansions at the DM1 locus. We determined the DM1 CpG methylation …