Cells undergoing continuous cell division are either differentiating mitotic cells or vegetative intermitotic cells (stem cells) that replicate both to replace themselves and to provide precursors for specialized cells. Examples of stem cells are basal cells in the epidermis, regenerative cells in the i...
HumansDrosophila melanogasterAlcohol DehydrogenaseInsect ProteinsDrosophila ProteinsThere are many well-studied examples of human phenotypes resulting from nonsense or frameshift mutations that are modulated by Nonsense-Mediated mRNA Decay (NMD), a process that typically degrades transcripts containing premature ...
This mutation has been assumed to be associated with dominantly-inherited morbid obesity in humans (1). Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her mother (BMI 37.55 kg/m2, height 164 cm, age 42.5 years) were heterozygous for the deletion. b) A ...
In humans, mitochondrial fatty acid β-oxidation disorders are a heterogeneous group of inherited diseases with a wide range of clinical presentation [1]. MCAD deficiency is the most frequently diagnosed disease in this group [5], for which widespread screening in European newborns has shown that ...