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 …
from fibre X-ray diffraction of tendons. Yet, the resulting models only could offer an average …
Collagen interactions: Drug design and delivery
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
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
The design and fabrication of self-assembled peptide nanostructures offer an amazing
platform for creating functional nanomaterials for various biomedical applications. Utilizing …
platform for creating functional nanomaterials for various biomedical applications. Utilizing …
Ocular features in Alport syndrome: pathogenesis and clinical significance
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 …
loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and …