[HTML][HTML] Exploring the genetic basis of early-onset chronic kidney disease
A Vivante, F Hildebrandt - Nature Reviews Nephrology, 2016 - nature.com
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …
adults. In the USA the most common diagnostic groups of renal disease that manifest before …
Assembly of fibronectin extracellular matrix
P Singh, C Carraher… - Annual review of cell and …, 2010 - annualreviews.org
In the process of matrix assembly, multivalent extracellular matrix (ECM) proteins are
induced to self-associate and to interact with other ECM proteins to form fibrillar networks …
induced to self-associate and to interact with other ECM proteins to form fibrillar networks …
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 …
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …
Extracellular matrix scaffolding in angiogenesis and capillary homeostasis
M Marchand, C Monnot, L Muller, S Germain - Seminars in cell & …, 2019 - Elsevier
The extracellular matrix (ECM) of blood vessels, which is composed of both the vascular
basement membrane (BM) and the interstitial ECM is identified as a crucial component of …
basement membrane (BM) and the interstitial ECM is identified as a crucial component of …
Extracellular matrix molecules: potential targets in pharmacotherapy
H Järveläinen, A Sainio, M Koulu, TN Wight… - Pharmacological …, 2009 - ASPET
The extracellular matrix (ECM) consists of numerous macromolecules classified traditionally
into collagens, elastin, and microfibrillar proteins, proteoglycans including hyaluronan, and …
into collagens, elastin, and microfibrillar proteins, proteoglycans including hyaluronan, and …
Fibronectins, their fibrillogenesis, and in vivo functions
JE Schwarzbauer… - Cold Spring Harbor …, 2011 - cshperspectives.cshlp.org
Fibronectin (FN) is a multidomain protein with the ability to bind simultaneously to cell
surface receptors, collagen, proteoglycans, and other FN molecules. Many of these domains …
surface receptors, collagen, proteoglycans, and other FN molecules. Many of these domains …
[HTML][HTML] Expert consensus guidelines for the genetic diagnosis of Alport syndrome
J Savige, F Ariani, F Mari, M Bruttini, A Renieri… - Pediatric …, 2019 - Springer
Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome.
Here, we describe current best practice and likely future developments. In individuals with …
Here, we describe current best practice and likely future developments. In individuals with …
De novo coding variants are strongly associated with Tourette disorder
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful
approach to gene discovery in complex neurodevelopmental disorders. We have completed …
approach to gene discovery in complex neurodevelopmental disorders. We have completed …
[HTML][HTML] The role of the podocyte in albumin filtration
In the past decade, our understanding of the role of podocytes in the function of the
glomerular filtration barrier, and of the role of podocyte injury in the pathogenesis of …
glomerular filtration barrier, and of the role of podocyte injury in the pathogenesis of …
A comprehensive analysis and annotation of human normal urinary proteome
M Zhao, M Li, Y Yang, Z Guo, Y Sun, C Shao, M Li… - Scientific reports, 2017 - nature.com
Biomarkers are measurable changes associated with the disease. Urine can reflect the
changes of the body while blood is under control of the homeostatic mechanisms; thus, urine …
changes of the body while blood is under control of the homeostatic mechanisms; thus, urine …