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Altered Synthesis of Cartilage-Specific Proteoglycans by Mutant Human Cartilage Oligomeric Matrix Protein

Kwak YH, Roh JY, Lee KS, Park HW, Kim HW

BACKGROUND: The mechanism by which mutant cartilage oligomeric matrix protein (COMP) induces a pseudoachondroplasia phenotype remains unknown, and the reason why a mutation of a minor protein of the growth...
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A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene

Kim J, Lee KA, Kim EK, Lee HK

An 87-year-old woman visited our clinic for a scheduled cataract surgery. At the time of preoperative evaluation, slit lamp examination showed lattice-shaped and granular deposits with asymmetrical patterns in the...
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Expression patterns of beta ig-h3 in chondrocyte differentiation during endochondral ossification

Han MS, Kim JE, Shin HI, Kim IS

beta ig-h3 is a TGF-beta-induced extracellular matrix protein which is expressed in many tissues including bones and cartilages. In previous reports, we showed that beta ig-h3 mediates cell adhesion and...
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Mutation analysis of the KAL Gene in Female Patients with Gonadotropin-Releasing Hormone Deficiency

Lee SH, Han JH, Cho SW, Lee WH, Cha KY, Lee MH

Isolated gonadotropin-releasing hormone (GnRH) deficiency, including Kallmann's syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH), is a congenital disorder, which is characterized by a functional deficit in hypothalamic GnRH secretion. Despite...
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