[HTML][HTML] The CLDN5 gene at the blood-brain barrier in health and disease

Y Hashimoto, C Greene, A Munnich… - Fluids and Barriers of the …, 2023 - Springer
The CLDN5 gene encodes claudin-5 (CLDN-5) that is expressed in endothelial cells and
forms tight junctions which limit the passive diffusions of ions and solutes. The blood–brain …

Ichthyosis

C Gutiérrez-Cerrajero, E Sprecher, AS Paller… - Nature Reviews …, 2023 - nature.com
The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can
be inherited or acquired, and result in defective keratinocyte differentiation and abnormal …

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

N Knoers, C Antignac, C Bergmann… - Nephrology Dialysis …, 2022 - academic.oup.com
The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

[HTML][HTML] Claudin-1, a double-edged sword in cancer

AA Bhat, N Syed, L Therachiyil, S Nisar… - International journal of …, 2020 - mdpi.com
Claudins, a group of membrane proteins involved in the formation of tight junctions, are
mainly found in endothelial or epithelial cells. These proteins have attracted much attention …

[HTML][HTML] Nanoscale segregation of channel and barrier claudins enables paracellular ion flux

H Gonschior, C Schmied, RE Van der Veen… - Nature …, 2022 - nature.com
The paracellular passage of ions and small molecules across epithelia is controlled by tight
junctions, complex meshworks of claudin polymers that form tight seals between …

[HTML][HTML] Tight junctions and their regulation by non-coding RNAs

X Zhao, H Zeng, L Lei, X Tong, L Yang… - … Journal of Biological …, 2021 - ncbi.nlm.nih.gov
Tight junction (TJ) is a “zippering up” junction structure located at the uppermost portion of
adjacent epithelial/endothelial cells in organs and tissues. TJs maintain the relative stability …

Learning physiology from inherited kidney disorders

J van der Wijst, H Belge, RJM Bindels… - Physiological …, 2019 - journals.physiology.org
The identification of genes causing inherited kidney diseases yielded crucial insights in the
molecular basis of disease and improved our understanding of physiological processes that …

[HTML][HTML] The genetic spectrum of Gitelman (-like) syndromes

KP Schlingmann, JHF de Baaij - Current opinion in nephrology …, 2022 - journals.lww.com
The genetic spectrum of Gitelman(-like) syndromes : Current Opinion in Nephrology and
Hypertension The genetic spectrum of Gitelman(-like) syndromes : Current Opinion in …

[HTML][HTML] Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture

X Hao, Z Shao, N Zhang, M Jiang, X Cao, S Li… - Nature …, 2023 - nature.com
Kidney stone disease (KSD) is a complex disorder with high heritability and prevalence. We
performed a large genome-wide association study (GWAS) meta-analysis for KSD to date …

[HTML][HTML] Inherited tubulopathies of the kidney: insights from genetics

ML Downie, SCL Garcia, R Kleta… - Clinical Journal of the …, 2021 - journals.lww.com
The kidney tubules provide homeostasis by maintaining the external milieu that is critical for
proper cellular function. Without homeostasis, there would be no heartbeat, no muscle …