Robert I. Richards
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View article: Sexual selection’s role in the persistence of polymorphism in an aposematic signal
Sexual selection’s role in the persistence of polymorphism in an aposematic signal Open
The persistence of polymorphisms in aposematic species remains one of the most interesting paradoxes in evolutionary biology because aposematism theory suggests that polymorphisms should be unstable over time. We offer an explanation for t…
View article: Single-cell sequencing shows mosaic aneuploidy in most human embryos
Single-cell sequencing shows mosaic aneuploidy in most human embryos Open
Mammalian preimplantation embryos often contain chromosomal defects that arose in the first divisions after fertilization and affect a subpopulation of cells - an event known as mosaic aneuploidy. In this issue of the JCI, Chavli et al. re…
View article: Pyrin gene and mutants thereof, which cause familial Mediterranean fever
Pyrin gene and mutants thereof, which cause familial Mediterranean fever Open
The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as wel…
View article: Molecular Biology of the WWOX Gene That Spans Chromosomal Fragile Site FRA16D
Molecular Biology of the WWOX Gene That Spans Chromosomal Fragile Site FRA16D Open
It is now more than 20 years since the FRA16D common chromosomal fragile site was characterised and the WWOX gene spanning this site was identified. In this time, much information has been discovered about its contribution to disease; howe…
View article: Zebrafish Chromosome 14 Gene Differential Expression in the fmr1hu2787 Model of Fragile X Syndrome
Zebrafish Chromosome 14 Gene Differential Expression in the fmr1hu2787 Model of Fragile X Syndrome Open
Zebrafish represent a valuable model for investigating the molecular and cellular basis of Fragile X syndrome (FXS). Reduced expression of the zebrafish FMR1 orthologous gene, fmr1 , causes developmental and behavioural phenotypes related …
View article: Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease
Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease Open
The notion that one common pathogenic pathway could account for the various clinically distinguishable, typically late-onset neurodegenerative diseases might appear unlikely given the plethora of diverse primary causes of neurodegeneration…
View article: The Enemy within: Innate Surveillance-Mediated Cell Death, the Common Mechanism of Neurodegenerative Disease
The Enemy within: Innate Surveillance-Mediated Cell Death, the Common Mechanism of Neurodegenerative Disease Open
Neurodegenerative diseases comprise an array of progressive neurological disorders all characterized by the selective death of neurons in the central nervous system. Although, rare (familial) and common (sporadic) forms can occur for the s…
View article: Tumor Suppressor WWOX Contributes to the Elimination of Tumorigenic Cells in Drosophila melanogaster
Tumor Suppressor WWOX Contributes to the Elimination of Tumorigenic Cells in Drosophila melanogaster Open
WWOX is a >1 Mb gene spanning FRA16D Common Chromosomal Fragile Site, a region of DNA instability in cancer. Consequently, altered WWOX levels have been observed in a wide variety of cancers. In vitro studies have identified a large number…
View article: <i>WWOX,</i> the chromosomal fragile site <i>FRA16D</i> spanning gene: Its role in metabolism and contribution to cancer
<i>WWOX,</i> the chromosomal fragile site <i>FRA16D</i> spanning gene: Its role in metabolism and contribution to cancer Open
The WWOX gene spans the common chromosomal fragile site FRA16D that is located within a massive (780 kb) intron. The WWOX gene is very long, at 1.1 Mb, which may contribute to the very low abundance of the full-length 1.4 kb mRNA. Alternat…