Human Genetic Disorders: Studying Single-Gene (Mendelian
2015年3月19日 · Finally, monogenic syndromes can sometimes serve as models for complex diseases. Consider the example of Van der Woude syndrome, which is characterized by lower …
Monogenic diabetes - Nature Reviews Disease Primers
2023年3月9日 · Monogenic diabetes is a heterogeneous group of disorders that includes various clinical conditions associated with hyperglycaemia, which are mostly due to impaired function …
The use of precision diagnostics for monogenic diabetes: a
2023年10月5日 · Monogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and …
Human monogenic disorders — a source of novel drug targets
2006年3月14日 · Monogenic disorders and novel potential therapeutic targets. These examples support the argument that mutations can identify potential targets for important medical …
Monogenic and polygenic inheritance become instruments for …
2020年6月24日 · Fig. 2: Polygenic and monogenic influences on clonal proliferation of cells with CN-LOH mutations. a, Two cellular outcomes of a CN-LOH mutation (mitotic recombination) …
Precision treatment of beta-cell monogenic diabetes: a systematic ...
2024年7月18日 · Monogenic diabetes is a type of diabetes caused by changes in genes that affect how the body makes or responds to insulin. Precision medicine (where knowledge of the …
Emerging concepts and treatments in autoinflammatory ... - Nature
2024年12月2日 · Monogenic causes of diseases presenting with interferon signatures have revealed cytoplasmic nucleic acid and protein sensing pathways that lead to type I interferon …
Genetic testing for monogenic forms of motor neuron disease
2024年11月5日 · Motor neuron disease (MND), also referred to as amyotrophic lateral sclerosis (ALS), is a monogenic disease in a minority of cases, with autosomal dominant inheritance. …
The expanding landscape of genetic causes of obesity
2024年12月17日 · The understanding of monogenic obesity began with the groundbreaking discovery of leptin (LEP) in 1994 16 which illustrated that single-gene mutations could lead to …
Genetic modifiers of rare variants in monogenic developmental
2024年4月18日 · Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DDs) and have also been shown to cause milder …