The basic knowledge which has opened for the new discipline of functional genomics stems from one hundred years of debates and experimentation among devoted geneticists, who tried to understand the processing of gene expression into phenotypic design without the molecular tools that are now available. Here I recapitulate some old and some newer results from this research, which illustrate the ways in which changes in genetic variation can be induced, how it can be kept latent or, when needed, be expressed in the phenotype.
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The University of Melbourne Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, Parkville, Victoria, AUSTRALIA.
Purpose Of Review: The recent widespread availability of genetic testing has resulted in the diagnosis of many more people with Alport syndrome. This increased recognition has been paralleled by advances in understanding clinical consequences, genotype-phenotype correlations and in the development of new therapies.
Recent Findings: These include the international call for a change of name to 'Alport spectrum' which better reflects the diverse clinical features seen with autosomal dominant and X-linked Alport syndrome; the demonstration of how common Alport syndrome is in people with haematuria, proteinuria, or kidney failure; the inability of current genetic testing to detect all pathogenic variants in suspected Alport syndrome; the different genotype-phenotype correlations for autosomal dominant and X-linked disease; and the novel treatments that are available including SGLT2 inhibitors for persistent albuminuria despite renin-angiotensin-aldosterone blockade, as well as early studies of gene-modifying agents.
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Center of Cellular and Genetic Science, Henan Academy of Sciences, Zhengzhou, China.
High-altitude adaptation is a remarkable example of natural selection, yet the genomic and physiological adaptation mechanisms of Ethiopian highlanders remain poorly understood compared to their Andean and Tibetan counterparts. Ethiopian populations, such as the Amhara and Oromo, exhibit unique adaptive strategies characterized by moderate hemoglobin levels and enhanced arterial oxygen saturation, indicating distinct mechanisms of coping with chronic hypoxia. This review synthesizes current genomic insights into Ethiopian high-altitude adaptation, identifying key candidate genes involved in hypoxia tolerance and examining the influence of genetic diversity and historical admixture on adaptive responses.
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Endocrinology Unit, Garibaldi-Nesima Hospital, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
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