[HTML][HTML] Of men and mice: modeling the fragile X syndrome

R Dahlhaus - Frontiers in molecular neuroscience, 2018 - frontiersin.org
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual
disability in all human societies. Caused by the transcriptional silencing of a single gene, the …

[HTML][HTML] Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome

SD Sheridan, KM Theriault, SA Reis, F Zhou… - PloS one, 2011 - journals.plos.org
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. In
addition to cognitive deficits, FXS patients exhibit hyperactivity, attention deficits, social …

G ene expression differences among different msi statuses in colorectal cancer

L Chen, X Pan, XH Hu, YH Zhang… - … journal of cancer, 2018 - Wiley Online Library
Colorectal cancer is the third most common cancer in males and second in females. This
disease can be caused by genetic and acquired/environmental factors. Microsatellite …

Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome

CP da Silva, D Camuzi, AHO Reis… - Expert Review of …, 2023 - Taylor & Francis
ABSTRACT Background Fragile X syndrome (FXS) is primarily due to CGG repeat
expansions in the FMR1 gene. FMR1 alleles are classified as normal (N), intermediate (I) …

Stable DNA methylation boundaries and expanded trinucleotide repeats: role of DNA insertions

A Naumann, C Kraus, A Hoogeveen… - Journal of molecular …, 2014 - Elsevier
The human genome segment upstream of the FMR1 (fragile X mental retardation 1) gene
(Xq27. 3) contains several genetic signals, among them is a DNA methylation boundary that …

[HTML][HTML] AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats

CB Volle, S Delaney - BMC biochemistry, 2013 - Springer
Abstract Background Fragile X Syndrome (FXS), the most common inherited form of mental
retardation, is caused by expansion of a CGG/CCG repeat tract in the 5′-untranslated …

[HTML][HTML] GAA triplet-repeats cause nucleosome depletion in the human genome

H Zhao, Y Xing, G Liu, P Chen, X Zhao, G Li, L Cai - Genomics, 2015 - Elsevier
Although there have been many investigations into how trinucleotide repeats affect
nucleosome formation and local chromatin structure, the nucleosome positioning of GAA …

Sequence-dependent nucleosome formation in trinucleotide repeats evaluated by in vivo chemical mapping

K Katsumata, Y Ichikawa, T Fuse, H Kurumizaka… - Biochemical and …, 2021 - Elsevier
Trinucleotide repeat sequences (TRSs), consisting of 10 unique classes of repeats in DNA,
are members of microsatellites and abundantly and non-randomly distributed in many …

[HTML][HTML] Statistical enrichment of epigenetic states around triplet repeats that can undergo expansions

A Essebier, P Vera Wolf, MD Cao, BJ Carroll… - Frontiers in …, 2016 - frontiersin.org
More than 30 human genetic diseases are linked to tri-nucleotide repeat expansions. There
is no known mechanism that explains repeat expansions in full, but changes in the …

Generating Transgenic Animal Models: Recent Technological Advancements

N Wadhwa, N Ganguli, SS Majumdar - Essentials of Laboratory Animal …, 2021 - Springer
Since the generation of the first transgenic animal by Gordan and Ruddle, several methods
and procedures have been developed for the manipulation of the genome. This chapter …