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Human KERA Protein expressed in Wheat germ - ABIN1308536
Zhang, Mao, Schwend, Littlechild, Conrad: Resistance of corneal RFUVA–cross-linked collagens and small leucine-rich proteoglycans to degradation by matrix metalloproteinases. in Investigative ophthalmology & visual science 2013
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Data indicate that mammalian keratocan is conserved in zebrafish in terms of gene structure, expression pattern, and promoter function.
rare variant in KERA was identified in a large kindred with premature atherosclerosis
our results demonstrate the expression of keratocan by osteoblast lineage cells and its ability to modulate osteoblast function.
Keratocan plays a unique role in maintaining the appropriate corneal shape to ensure normal vision
Keratocan-deficient mice have corneal collagen fibrils with significantly larger diameters than those in wild-type mice, and increased centre-to-centre spacing of the fibrils.
lumican (show LUM Proteins) has a novel regulatory role in keratocan expression at the transcriptional level
lumican (show LUM Proteins) and keratocan core proteins bind the CXC chemokine (show CXCL12 Proteins) KC during a corneal inflammatory response, indicating that corneal KSPGs mediate neutrophil recruitment to the cornea by regulating chemokine (show CCL1 Proteins) gradient formation.
The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease.
a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form.
Corneal endothelial disorders were found with compound mutations in KERA
Linkage and haplotype analyses identified 12q21.33 as a locus for posterior amorphous corneal dystrophy. However, no mutations were identified in the candidate genes (KERA, LUM (show LUM Proteins), DCN (show DCN Proteins), EPYC (show EPYC Proteins)) within this region.
KERA mutation is associated with autosomal recessive cornea plana
This is the first report of the identification of a mutation within KERA in a family of Hispanic origin with autosomal recessive cornea plana.
No evidence that endothelial dysfunction and germline mutation of lumican and keratocan genes participate in the etiology of subepithelial corneal haze.
Specific for mutation in KERA, the ophthalmic phenotype of recessive cornea plana does not significantly vary with different KERA mutations.
In addition, no pathogenic sequence variations were found in DCN (show DCN Proteins), DSPG3 (show EPYC Proteins), LUM (show LUM Proteins), PITX2 (show PITX2 Proteins) and FOXC1 (show FOXC1 Proteins), which have also been implicated in corneal and anterior segment dysgenesis.
FGF-2 (show FGF2 Proteins)- and TGF-beta1 (show TGFB1 Proteins)-activation of JNK (show MAPK8 Proteins) signaling pathway may be partly responsible for the downregulation of keratocan and lumican (show LUM Proteins) expression in activated corneal keratocytes observed during corneal stromal wound healing.
May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.
, keratan sulfate proteoglycan keratocan
, KSPG keratocan
, corneal keratan sulfate proteoglycan 37A core protein