Programming of DNA methylation patterns
H Cedar, Y Bergman - Annual review of biochemistry, 2012 - annualreviews.org
DNA methylation represents a form of genome annotation that mediates gene repression by
serving as a maintainable mark that can be used to reconstruct silent chromatin following …
serving as a maintainable mark that can be used to reconstruct silent chromatin following …
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
C Bagni, F Tassone, G Neri… - The Journal of clinical …, 2012 - Am Soc Clin Investig
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is
also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet …
also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet …
Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells
In embryonic stem cell (ESC) lines generated from human embryos determined through
preimplantation genetic diagnosis to carry the fragile X mutation, the FMR1 gene is …
preimplantation genetic diagnosis to carry the fragile X mutation, the FMR1 gene is …
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within
intron 1 of the FXN gene, leading to reduced expression of frataxin protein. Evidence …
intron 1 of the FXN gene, leading to reduced expression of frataxin protein. Evidence …
Fragile X syndrome
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion,
named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27. 3; which …
named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27. 3; which …
[HTML][HTML] Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos
R Eiges, A Urbach, M Malcov, T Frumkin, T Schwartz… - Cell stem cell, 2007 - cell.com
We report on the establishment of a human embryonic stem cell (HESC) line from a
preimplantation fragile X-affected embryo and demonstrate its value as an appropriate …
preimplantation fragile X-affected embryo and demonstrate its value as an appropriate …
CGG repeat in the FMR1 gene: size matters
R Willemsen, J Levenga, BA Oostra - Clinical genetics, 2011 - Wiley Online Library
Willemsen R, Levenga J, Oostra BA. CGG repeat in the FMR1 gene: size matters. The FMR1
gene contains a CGG repeat present in the 5′‐untranslated region which can be unstable …
gene contains a CGG repeat present in the 5′‐untranslated region which can be unstable …
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 …
disability in all human societies. Caused by the transcriptional silencing of a single gene, the …
Transcription factor FIGLA is mutated in patients with premature ovarian failure
Premature Ovarian Failure (POF) is a genetically heterogenous disorder that leads to
hypergonadotropic ovarian failure and infertility. We screened 100 Chinese women with …
hypergonadotropic ovarian failure and infertility. We screened 100 Chinese women with …
The dynamics of the primordial follicle reserve
JB Kerr, M Myers, RA Anderson - Reproduction, 2013 - rep.bioscientifica.com
The female germline comprises a reserve population of primordial (non-growing) follicles
containing diplotene oocytes arrested in the first meiotic prophase. By convention, the …
containing diplotene oocytes arrested in the first meiotic prophase. By convention, the …