Collagen structure: new tricks from a very old dog

J Bella - Biochemical Journal, 2016 - portlandpress.com
The main features of the triple helical structure of collagen were deduced in the mid-1950s
from fibre X-ray diffraction of tendons. Yet, the resulting models only could offer an average …

Collagen interactions: Drug design and delivery

B An, YS Lin, B Brodsky - Advanced drug delivery reviews, 2016 - Elsevier
Collagen is a major component in a wide range of drug delivery systems and biomaterial
applications. Its basic physical and structural properties, together with its low …

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson, JM Hertz… - European journal of …, 2021 - nature.com
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Genome-wide association study of diabetic kidney disease highlights biology involved in glomerular basement membrane collagen

RM Salem, JN Todd, N Sandholm… - Journal of the …, 2019 - journals.lww.com
Background Although diabetic kidney disease demonstrates both familial clustering and
single nucleotide polymorphism heritability, the specific genetic factors influencing risk …

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 …

[HTML][HTML] Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

M Quinodoz, VG Peter, K Cisarova… - The American Journal of …, 2022 - cell.com
We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

DS Kuo, C Labelle-Dumais… - Human molecular …, 2012 - academic.oup.com
Heterotrimers composed of collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2)
constitute one of the most abundant components of nearly all basement membranes …

Human pathogens utilize host extracellular matrix proteins laminin and collagen for adhesion and invasion of the host

B Singh, C Fleury, F Jalalvand… - FEMS microbiology …, 2012 - academic.oup.com
Laminin (Ln) and collagen are multifunctional glycoproteins that play an important role in
cellular morphogenesis, cell signalling, tissue repair and cell migration. These proteins are …

Protein-mimetic peptide nanofibers: Motif design, self-assembly synthesis, and sequence-specific biomedical applications

W Zhang, X Yu, Y Li, Z Su, KD Jandt, G Wei - Progress in Polymer Science, 2018 - Elsevier
The design and fabrication of self-assembled peptide nanostructures offer an amazing
platform for creating functional nanomaterials for various biomedical applications. Utilizing …

Ocular features in Alport syndrome: pathogenesis and clinical significance

J Savige, S Sheth, A Leys, A Nicholson… - Clinical Journal of the …, 2015 - journals.lww.com
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing
loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and …