| We expand the phenotypic spectrum of biallelic KERA mutations in this report of a boy with juvenile corneal ectasia who was found to harbor an underlying novel homozygous mutation in the gene. | Corneal ectasia in a boy with homozygous KERA mutation.
Khan AO. | 06/30/2018 |
| KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana | Analysis of KERA in four families with cornea plana identifies two novel mutations.
Dudakova L, Vercruyssen JHJ, Balikova I, Postolache L, Leroy BP, Skalicka P, Liskova P. | 02/10/2018 |
| 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 Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.
Kumari D, Tiwari A, Choudhury M, Kumar A, Rao A, Dixit M. | 06/4/2016 |
| a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form. | Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
Roos L, Bertelsen B, Harris P, Bygum A, Jensen H, Grønskov K, Tümer Z., Free PMC Article | 09/12/2015 |
| Corneal endothelial disorders were found with compound mutations in KERA | Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.
Dudakova L, Palos M, Hardcastle AJ, Liskova P. | 04/25/2015 |
| rare variant in KERA was identified in a large kindred with premature atherosclerosis | Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.
Maiwald S, Sivapalaratnam S, Motazacker MM, van Capelleveen JC, Bot I, de Jager SC, van Eck M, Jolley J, Kuiper J, Stephens J, Albers CA, Vosmeer CR, Kruize H, Geerke DP, van der Wal AC, van der Loos CM, Kastelein JJ, Trip MD, Ouwehand WH, Dallinga-Thie GM, Hovingh GK., Free PMC Article | 01/17/2015 |
| 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, DCN, EPYC) within this region. | Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.
Aldave AJ, Rosenwasser GO, Yellore VS, Papp JC, Sobel EM, Pham MN, Chen MC, Dandekar S, Sripracha R, Rayner SA, Sassani JW, Gorin MB., Free PMC Article | 08/23/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesCandidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.
Dimasi DP, Burdon KP, Hewitt AW, Savarirayan R, Healey PR, Mitchell P, Mackey DA, Craig JE. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK. | 12/2/2009 |
| Multiple core-protein species were detected for decorin, biglycan, lumican and keratocan in the degenerate osteoarthritic articular cartilage and menisci. | Fragmentation of decorin, biglycan, lumican and keratocan is elevated in degenerate human meniscus, knee and hip articular cartilages compared with age-matched macroscopically normal and control tissues.
Melrose J, Fuller ES, Roughley PJ, Smith MM, Kerr B, Hughes CE, Caterson B, Little CB., Free PMC Article | 01/21/2010 |
| This is the first description of recessive cornea plana in a white British family and it is the second report on the p.N247S change in the KERA gene. | Study of p.N247S KERA mutation in a British family with cornea plana.
Liskova P, Hysi PG, Williams D, Ainsworth JR, Shah S, de la Chapelle A, Tuft SJ, Bhattacharya SS. | 01/21/2010 |
| KERA mutation is associated with autosomal recessive cornea plana | A novel KERA mutation associated with autosomal recessive cornea plana.
Khan A, Al-Saif A, Kambouris M. | 01/21/2010 |
| This is the first report of the identification of a mutation within KERA in a family of Hispanic origin with autosomal recessive cornea plana. | Clinical and molecular characterization of a family with autosomal recessive cornea plana.
Ebenezer ND, Patel CB, Hariprasad SM, Chen LL, Patel RJ, Hardcastle AJ, Allen RC. | 01/21/2010 |
| Specific for mutation in KERA, the ophthalmic phenotype of recessive cornea plana does not significantly vary with different KERA mutations. | Recessive cornea plana in the Kingdom of Saudi Arabia.
Khan AO, Aldahmesh M, Meyer B. | 01/21/2010 |
| No evidence that endothelial dysfunction and germline mutation of lumican and keratocan genes participate in the etiology of subepithelial corneal haze. | The role of lumican and keratocan genes in persistent subepithelial corneal haze following excimer laser photorefractive keratectomy.
Szabó V, Balogh K, Süveges I, Rácz K, Hunyady L, Nagy ZZ. | 01/21/2010 |
| In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis. | Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.
Aldave AJ, Sonmez B, Bourla N, Schultz G, Papp JC, Salem AK, Rayner SA, Yellore VS. | 01/21/2010 |