Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
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چکیده
منابع مشابه
Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta
OBJECTIVE Hereditary defects in tooth enamel formation, amelogenesis imperfecta (AI), can be non-syndromic or syndromic phenotype. Integrins are signaling proteins that mediate cell-cell and cell-extracellular matrix communication, and their involvement in tooth development is well known. The purposes of this study were to identify genetic cause of an AI family and molecular pathogenesis underl...
متن کاملMMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta.
D uring mammalian tooth formation, two proteinases are secreted by ameloblasts: enamelysin (MMP-20) and kallikrein-4 (KLK4). Enamelysin is the early protease. It is expressed by ameloblasts throughout the secretory stage and part of the maturation stage. KLK4 is the late protease; its expression by ameloblasts begins in the transition stage and continues throughout enamel maturation. 5 Expressi...
متن کاملIdentification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta
UNLABELLED A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absorptiometry (DEXA) bone scanning confirmed low bone mass for her age in the lumbar spine...
متن کاملA novel keratocan mutation causing autosomal recessive cornea plana.
PURPOSE Mutations in keratocan (KERA), a small leucine-rich proteoglycan, have recently been shown to be responsible for cases of autosomal recessive cornea plana (CNA2). A consanguineous pedigree in which cornea plana cosegregated with microphthalmia was investigated by linkage analysis and direct sequencing. METHODS Linkage was sought to polymorphic microsatellite markers distributed around...
متن کاملNovel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2011
ISSN: 1059-7794
DOI: 10.1002/humu.21647