1. [Collagen abnormalities and endoplasmic reticulum stress in bone and cartilage].

    Clinical calcium 23(11):1635 (2013) PMID 24162604

    There are many steps in the post-translational modification of collagen molecules. When abnormality occurs in some step, the unfolded collagen molecules are accumulated in the endoplasmic reticulum (ER) , leading to ER stress. ER stress also occurs downstream of the defective modification of col...
  2. [Collagen abnormalities and endoplasmic reticulum stress in bone and cartilage].

    Clinical calcium 23(11):1635 (2013) PMID 24162604

    There are many steps in the post-translational modification of collagen molecules. When abnormality occurs in some step, the unfolded collagen molecules are accumulated in the endoplasmic reticulum (ER) , leading to ER stress. ER stress also occurs downstream of the defective modification of col...
  3. Zinc signal: a new player in osteobiology.

    Journal of Bone and Mineral Metabolism 31(2):129 (2013) PMID 23468210

    Disturbed zinc (Zn) homeostasis in mammals is mainly characterized by impaired bone generation accompanied with growth retardation. However, the underlying mechanisms that determine how Zn controls bone homeostasis remain to be defined. Zn homeostasis is tightly controlled by Zn transporter fami...
  4. Zinc signal: a new player in osteobiology.

    Journal of Bone and Mineral Metabolism 31(2):129 (2013) PMID 23468210

    Disturbed zinc (Zn) homeostasis in mammals is mainly characterized by impaired bone generation accompanied with growth retardation. However, the underlying mechanisms that determine how Zn controls bone homeostasis remain to be defined. Zn homeostasis is tightly controlled by Zn transporter fami...
  5. SP7 inhibits osteoblast differentiation at a late stage in mice.

    PLoS ONE 7(3):e32364 (2012) PMID 22396760 PMCID PMC3292551

    RUNX2 and SP7 are essential transcription factors for osteoblast differentiation at an early stage. Although RUNX2 inhibits osteoblast differentiation at a late stage, the function of SP7 at the late stage of osteoblast differentiation is not fully elucidated. Thus, we pursued the function of SP...
  6. SP7 inhibits osteoblast differentiation at a late stage in mice.

    PLoS ONE 7(3):e32364 (2012) PMID 22396760 PMCID PMC3292551

    RUNX2 and SP7 are essential transcription factors for osteoblast differentiation at an early stage. Although RUNX2 inhibits osteoblast differentiation at a late stage, the function of SP7 at the late stage of osteoblast differentiation is not fully elucidated. Thus, we pursued the function of SP...
  7. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.

    Mammalian Genome 22(5-6):318 (2011) PMID 21538020

    The COL2A1 gene encodes the α1(II) chain of the homotrimeric type II collagen, the most abundant protein in cartilage. In humans, COL2A1 mutations create many clinical phenotypes collectively termed type II collagenopathies; however, the genetic basis of the phenotypic diversity is not well eluc...
  8. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.

    Mammalian Genome 22(5-6):318 (2011) PMID 21538020

    The COL2A1 gene encodes the α1(II) chain of the homotrimeric type II collagen, the most abundant protein in cartilage. In humans, COL2A1 mutations create many clinical phenotypes collectively termed type II collagenopathies; however, the genetic basis of the phenotypic diversity is not well eluc...
  9. A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.

    Journal of Human Genetics 56(5):398 (2011) PMID 21412251

    Desbuquois dysplasia (DBQD) is a severe skeletal dysplasia of autosomal recessive inheritance. DBQD is classified into types 1 and 2 based on presence or absence of hand anomalies. In a previous study, we found a CANT1 (for calcium-activated nucleotidase 1) mutation, c.676G>A in five DBQD famili...
  10. A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.

    Journal of Human Genetics 56(5):398 (2011) PMID 21412251

    Desbuquois dysplasia (DBQD) is a severe skeletal dysplasia of autosomal recessive inheritance. DBQD is classified into types 1 and 2 based on presence or absence of hand anomalies. In a previous study, we found a CANT1 (for calcium-activated nucleotidase 1) mutation, c.676G>A in five DBQD famili...
  11. Follistatin-like 1 (Fstl1) is a bone morphogenetic protein (BMP) 4 signaling antagonist in controlling mouse lung development.

    PNAS 108(17):7058 (2011) PMID 21482757 PMCID PMC3084141

    Lung morphogenesis is a well orchestrated, tightly regulated process through several molecular pathways, including TGF-β/bone morphogenetic protein (BMP) signaling. Alteration of these signaling pathways leads to lung malformation. We investigated the role of Follistatin-like 1 (Fstl1), a secret...
  12. Follistatin-like 1 (Fstl1) is a bone morphogenetic protein (BMP) 4 signaling antagonist in controlling mouse lung development.

    PNAS 108(17):7058 (2011) PMID 21482757 PMCID PMC3084141

    Lung morphogenesis is a well orchestrated, tightly regulated process through several molecular pathways, including TGF-β/bone morphogenetic protein (BMP) signaling. Alteration of these signaling pathways leads to lung malformation. We investigated the role of Follistatin-like 1 (Fstl1), a secret...
  13. SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

    The American Journal of Human Genetics 88(1):30 (2011)

    Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations ...
  14. SMOC1 is essential for ocular and limb development in humans and mice.

    The American Journal of Human Genetics 88(1):30 (2011) PMID 21194678 PMCID PMC3014372

    Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPA...
  15. Overexpression of Bcl2 in osteoblasts inhibits osteoblast differentiation and induces osteocyte apoptosis.

    PLoS ONE 6(11):e27487 (2011) PMID 22114675 PMCID PMC3219663

    Bcl2 subfamily proteins, including Bcl2 and Bcl-X(L), inhibit apoptosis. As osteoblast apoptosis is in part responsible for osteoporosis in sex steroid deficiency, glucocorticoid excess, and aging, bone loss might be inhibited by the upregulation of Bcl2; however, the effects of Bcl2 overexpress...
  16. Overexpression of Bcl2 in osteoblasts inhibits osteoblast differentiation and induces osteocyte apoptosis.

    PLoS ONE 6(11):e27487 (2011) PMID 22114675 PMCID PMC3219663

    Bcl2 subfamily proteins, including Bcl2 and Bcl-X(L), inhibit apoptosis. As osteoblast apoptosis is in part responsible for osteoporosis in sex steroid deficiency, glucocorticoid excess, and aging, bone loss might be inhibited by the upregulation of Bcl2; however, the effects of Bcl2 overexpress...
  17. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

    Journal of Medical Genetics 48(1):32 (2011) PMID 21037275

    Desbuquois dysplasia (DD) is a recessively inherited condition characterised by short stature, generalised skeletal dysplasia and advanced bone maturation. DD is both clinically and radiographically heterogeneous, and two subtypes have been distinguished based on the presence (type 1) or absence...
  18. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

    Journal of Medical Genetics 48(1):32 (2011) PMID 21037275

    Desbuquois dysplasia (DD) is a recessively inherited condition characterised by short stature, generalised skeletal dysplasia and advanced bone maturation. DD is both clinically and radiographically heterogeneous, and two subtypes have been distinguished based on the presence (type 1) or absence...
  19. SMOC1Is Essential for Ocular and Limb Development in Humans and Mice

    The American Journal of Human Genetics 88(1):30 (2011) PMID 21194678 PMCID PMC3014372

    Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in th...
  20. Chondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage development.

    Biochemical Journal 432(1):47 (2010) PMID 20812917 PMCID PMC2995422

    CS (chondroitin sulfate) is a glycosaminoglycan species that is widely distributed in the extracellular matrix. To understand the physiological roles of enzymes involved in CS synthesis, we produced CSGalNAcT1 (CS N-acetylgalactosaminyltransferase 1)-null mice. CS production was reduced by appro...