PLOD1 a target of miR-34c contributes to cell growth and metastasis via repressing LATS1 phosphorylation and inactivating Hippo pathway in osteosarcoma.
Ehlers Danlos syndrome in two children was confirmed by mutations in PLOD1 gene. Initially patients were thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital) scoliosis.
Deficiency of the enzyme lysyl hydroxylase 1 (LH1) due to mutations in PLOD1 results in underhydroxylation of collagen lysyl residues and hence in the abnormal formation of collagen cross-links.
Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects and three MYH11 ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations.
Common polymorphisms in four candidate genes (COL11A1 COL18A1 FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia.
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