Associated Papers
Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.
Matsushima N et al.
Journal of Cell Communication and Signaling, 2021
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
An evaluation of OPTC and EPYC as candidate genes for high myopia.
Wang P et al.
Molecular Vision, 2009
Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia.
Majava M et al.
Human Mutation, 2007
Protein localization in the human eye and genetic screen of opticin.
Friedman JS et al.
Human Molecular Genetics, 2002
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