Your English writing platform
Discover LudwigSuggestions(1)
Exact(60)
There is no robust evidence from either our data or the literature indicating that RET Y791F-only may cause familial MTC or MEN2 syndrome (reports addressing very small families should not be considered to be informative).
At present three different genes have been identified to cause familial hemiplegic migraine, i.e., locus heterogeneity [30 32].
Defects in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a highly atherogenic condition.
Genes found to cause familial Parkinsonism have been linked to mitochondrial function and toxins that inhibit the mitochondrial respiratory chain have been found to cause dopamine cell death.
In 2001, geneticist Ying-Hui Fu and colleagues identified a mutation in a gene called Per2 that appeared to cause familial advanced sleep-phase syndrome (FASPS).
The discovery of novel mutations in the gene encoding SOD1 that cause familial ALS has led to the development of genetically engineered animal models that have substantially enhanced our understanding of this disease.
For example, FUS and TDP-43, which rank 1st and 10th among RRM-bearing prion candidates, form cytoplasmic inclusions in the degenerating motor neurons of ALS patients and mutations in TDP-43 and FUS cause familial ALS.
Mutations in APP, Presenilin 1 and Presenilin 2 cause familial, early onset AD [4] [7].
Mutations leading to increased APP levels or alterations in APP cleavage cause familial Alzheimer's disease (AD).
Mutations in IKBKAP cause familial dysautonomia, a disease that leads to loss of taste buds and nerve fibers innervating taste buds [31], [32].
Additionally Parkin/PARK2, another gene with mutations known to cause familial PD, had been shown to rescue Pink-1 mutations [30].
Write better and faster with AI suggestions while staying true to your unique style.
Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com