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However, the ability to target and reverse the epigenetic chaos caused by mutations in specific epigenetic regulators is certainly a good place to start, and it's encouraging to see such a relatively new field of basic research already reaching the clinic.
Genetic diseases are generally rare diseases caused by mutations in specific genes.
Neurodegenerative diseases are progressive and irreversible and they can be initiated by mutations in specific genes.
Resistance to cancer chemotherapy can be mediated by mutations in specific genes such as MDR1 (P-glykoprotein).
More recently, COG dysfunction caused by mutations in specific subunits has been associated with new forms of Congenital Disorders of Glycosylation (CDG) in humans [reviewed in [ 30, 31]].
Approximately 10% of ALS cases have a clear family history (fALS), caused by mutations in specific genes, usually with a dominant pattern of inheritance (1– 3).
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Clinical phenotypes caused by mutations in the specific mt-aminoacyl-tRNA synthetases are associated with diversity in both tissue-specificity and clinical presentation [6].
Each subtype has its own characteristic gene-signature caused by different genetic aberrations and by mutations in pathway-specific genes as found for type A and B tumors.
CMT type 1 is characterized by prominent demyelination and decreased nerve conduction velocities and is most commonly caused by mutations in myelin-specific proteins.
This is well illustrated by mutations in COG-specific subunits, which give rise to different human diseases belonging to the Congenital Disorders of Glycosylation (CDG).
Some members are maintained, while others are inactivated by deleterious mutations in specific vertebrate lineages, suggesting that birth-and-death evolution has occurred in the Ugt1 cluster.
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