IMI pathologic myopia

K Ohno-Matsui, PC Wu, K Yamashiro… - … & visual science, 2021 - iovs.arvojournals.org
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 …

Albumin uptake and processing by the proximal tubule: Physiological, pathological, and therapeutic implications

BA Molitoris, RM Sandoval, SPS Yadav… - Physiological …, 2022 - journals.physiology.org
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 …

Six reference-quality genomes reveal evolution of bat adaptations

D Jebb, Z Huang, M Pippel, GM Hughes… - Nature, 2020 - nature.com
Bats possess extraordinary adaptations, including flight, echolocation, extreme longevity
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

C Pattaro, A Teumer, M Gorski, AY Chu, M Li… - Nature …, 2016 - nature.com
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 …

[HTML][HTML] Megalin and cubilin in proximal tubule protein reabsorption: from experimental models to human disease

R Nielsen, EI Christensen, H Birn - Kidney international, 2016 - Elsevier
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 …

Physiology and pathophysiology of steroid biosynthesis, transport and metabolism in the human placenta

W Chatuphonprasert, K Jarukamjorn… - Frontiers in …, 2018 - frontiersin.org
The steroid hormones progestagens, estrogens, androgens, and glucocorticoids as well as
their precursor cholesterol are required for successful establishment and maintenance of …

Rediscovering beta-2 microglobulin as a biomarker across the spectrum of kidney diseases

CP Argyropoulos, SS Chen, YH Ng… - Frontiers in …, 2017 - frontiersin.org
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 …

Whole exome sequencing of patients with steroid-resistant nephrotic syndrome

JK Warejko, W Tan, A Daga, D Schapiro… - Clinical Journal of the …, 2018 - journals.lww.com
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 …

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

TJ Edwards, EH Sherr, AJ Barkovich, LJ Richards - Brain, 2014 - academic.oup.com
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 …

[HTML][HTML] Single-cell transcriptomics characterizes cell types in the subventricular zone and uncovers molecular defects impairing adult neurogenesis

V Zywitza, A Misios, L Bunatyan, TE Willnow… - Cell reports, 2018 - cell.com
Neural stem cells (NSCs) contribute to plasticity and repair of the adult brain. Niches
harboring NSCs regulate stem cell self-renewal and differentiation. We used comprehensive …