Literature DB >> 23834557

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

Lubica Dudakova1, Michalis Palos, Alison J Hardcastle, Petra Liskova.   

Abstract

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Year:  2013        PMID： 23834557     DOI： 10.3109/13816810.2013.811272

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  5 in total

Review 1.  Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.

Authors:  Norio Matsushima; Hiroki Miyashita; Robert H Kretsinger
Journal:  J Cell Commun Signal       Date:  2021-04-15       Impact factor: 5.782

2.  Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.

Authors:  Laura Roos; Birgitte Bertelsen; Pernille Harris; Anette Bygum; Hanne Jensen; Karen Grønskov; Zeynep Tümer
Journal:  BMC Med Genet       Date:  2015-06-23       Impact factor: 2.103

3.  Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant.

Authors:  Pavlina Skalicka; Jana Jedlickova; Ales Horinek; Marie Trkova; Alice E Davidson; Stephen J Tuft; Lubica Dudakova; Petra Liskova
Journal:  J Clin Med       Date:  2022-08-31       Impact factor: 4.964

4.  Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.

Authors:  Stephanie Maiwald; Suthesh Sivapalaratnam; Mahdi M Motazacker; Julian C van Capelleveen; Ilze Bot; Saskia C de Jager; Miranda van Eck; Jennifer Jolley; Johan Kuiper; Jonathon Stephens; Cornelius A Albers; C Ruben Vosmeer; Heleen Kruize; Daan P Geerke; Allard C van der Wal; Chris M van der Loos; John J P Kastelein; Mieke D Trip; Willem H Ouwehand; Geesje M Dallinga-Thie; G Kees Hovingh
Journal:  PLoS One       Date:  2014-05-30       Impact factor: 3.240

5.  Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.

Authors:  Chengzi Huang; Xigui Long; Can Peng; Pengsiyuan Lin; Hu Tan; Weigang Lv; Lingqian Wu
Journal:  Mol Med Rep       Date:  2019-04-11       Impact factor: 2.952
  5 in total

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