IMI pathologic myopia
Pathologic myopia is a major cause of visual impairment worldwide. Pathologic myopia is
distinctly different from high myopia. High myopia is a high degree of myopic refractive error …
distinctly different from high myopia. High myopia is a high degree of myopic refractive error …
Albumin uptake and processing by the proximal tubule: Physiological, pathological, and therapeutic implications
For nearly 50 years the proximal tubule (PT) has been known to reabsorb, process, and
either catabolize or transcytose albumin from the glomerular filtrate. Innovative techniques …
either catabolize or transcytose albumin from the glomerular filtrate. Innovative techniques …
Six reference-quality genomes reveal evolution of bat adaptations
Bats possess extraordinary adaptations, including flight, echolocation, extreme longevity
and unique immunity. High-quality genomes are crucial for understanding the molecular …
and unique immunity. High-quality genomes are crucial for understanding the molecular …
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Reduced glomerular filtration rate defines chronic kidney disease and is associated with
cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide …
cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide …
[HTML][HTML] Megalin and cubilin in proximal tubule protein reabsorption: from experimental models to human disease
Proximal tubule protein uptake is mediated by 2 receptors, megalin and cubilin. These
receptors rescue a variety of filtered ligands, including biomarkers, essential vitamins, and …
receptors rescue a variety of filtered ligands, including biomarkers, essential vitamins, and …
Physiology and pathophysiology of steroid biosynthesis, transport and metabolism in the human placenta
The steroid hormones progestagens, estrogens, androgens, and glucocorticoids as well as
their precursor cholesterol are required for successful establishment and maintenance of …
their precursor cholesterol are required for successful establishment and maintenance of …
Rediscovering beta-2 microglobulin as a biomarker across the spectrum of kidney diseases
There is currently an unmet need for better biomarkers across the spectrum of renal
diseases. In this paper, we revisit the role of beta-2 microglobulin (β2M) as a biomarker in …
diseases. In this paper, we revisit the role of beta-2 microglobulin (β2M) as a biomarker in …
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function
Kidney failure, the decrease of kidney function below a threshold necessary to support life, is
a major cause of morbidity and mortality. We performed a genome-wide association study …
a major cause of morbidity and mortality. We performed a genome-wide association study …
Whole exome sequencing of patients with steroid-resistant nephrotic syndrome
Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes
The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral
hemispheres, and thereby facilitating the integration of motor and sensory information from …
hemispheres, and thereby facilitating the integration of motor and sensory information from …