Leena Ala-Kokko

TL;DR: The existence of several hot spots for ligand interactions on type I collagen and the existence of mutations associated with osteogenesis imperfecta and other disorders show apparently nonrandom distribution patterns within both the monomer and fibril, implying that mutation positions correlate with disease phenotype.

TL;DR: The COL9A2 gene, which codes for one of the polypeptide chains of collagen IX that is expressed in the intervertebral disc, was screened for sequence variations in individuals with interverTEbral disc disease and identified a putative disease-causing sequence variation that converted a codon for glutamine to one for tryptophan.

TL;DR: The FBN1 mutation database has recently been modified to follow the guidelines on mutation databases of the HUGO Mutation Database Initiative (MDI) and the Human Genome Variation Society (HGVS), including their approved mutation nomenclature.

TL;DR: This study led to the identification of a novel common genetic risk factor for LDD, confirming that genetic risk factors likely play a significant role in LDD.

TL;DR: The fibril domain model provides potential insights into the genotype-phenotype relationship for several classes of human connective tissue diseases, mechanisms of integrin clustering by fibrils, the polarity of fibrill assembly, heterotypic fibrIL function, and connectedive tissue pathology in diabetes and aging.