Abstract:
:Until 2006 the only mutations known to cause osteogenesis imperfecta (OI) were in the two genes coding for type I collagen chains. These dominant mutations affecting the expression or primary sequence of collagen α1(I) and α2(I) chains account for over 90% of OI cases. Since then a growing list of mutant genes causing the 5-10% of recessive cases has rapidly emerged. They include CRTAP, LEPRE1, and PPIB, which encode three proteins forming the prolyl 3-hydroxylase complex; PLOD2 and FKBP10, which encode, respectively, lysyl hydroxylase 2 and a foldase required for its activity in forming mature cross-links in bone collagen; SERPINH1, which encodes the collagen chaperone HSP47; SERPINF1, which encodes pigment epithelium-derived factor required for osteoid mineralization; and BMP1, which encodes the type I procollagen C-propeptidase. All cause fragile bone in infancy, which can include overmineralization or undermineralization defects as well as abnormal collagen posttranslational modifications. Consistently both dominant and recessive variants lead to abnormal cross-linking chemistry in bone collagen. These recent discoveries strengthen the potential for a common pathogenic mechanism of misassembled collagen fibrils. Of the new genes identified, eight encode proteins required for collagen posttranslational modification, chaperoning of newly synthesized collagen chains into native molecules, or transport through the endoplasmic reticulum and Golgi for polymerization, cross-linking, and mineralization. In reviewing these findings, we conclude that a common theme is emerging in the pathogenesis of brittle bone disease of mishandled collagen assembly with important insights on posttranslational features of bone collagen that have evolved to optimize it as a biomineral template.
journal_name
Calcif Tissue Intjournal_title
Calcified tissue internationalauthors
Eyre DR,Weis MAdoi
10.1007/s00223-013-9723-9subject
Has Abstractpub_date
2013-10-01 00:00:00pages
338-47issue
4eissn
0171-967Xissn
1432-0827journal_volume
93pub_type
杂志文章,评审abstract::The extracellular protein matrix of developing enamel includes a major class of proteins, the amelogenins, which are believed to be concerned in regulating enamel biomineralization. Previous studies have shown the amelogenins of the extracellular matrix to be a complex of proline-rich hydrophobic proteins which, it is...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF02556044
更新日期:1989-10-01 00:00:00
abstract::The purpose of this study was to estimate clinical validity of a new available immunoradiometric assay for circulating intact human BGP (N-tact Osteo SP) by measuring this protein in a large number of normal subjects and patients with the most common metabolic bone diseases. One hundred normal subjects were studied in...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/pl00005815
更新日期:1999-05-01 00:00:00
abstract::The fossil record shows that bone remodeling has existed since the earliest large vertebrates became weight-bearing on land, but the functions of remodeling have long been debated. The principal protagonists in this debate have been those favoring a mechanical function and those asserting that remodeling serves to mov...
journal_title:Calcified tissue international
pub_type: 杂志文章,评审
doi:10.1007/s00223-002-1059-9
更新日期:2003-08-01 00:00:00
abstract::Bone and mineral metabolism has been reported to affect the development of the ossification of the posterior longitudinal ligament (OPLL). The aim of this study was to compare bone mineral densities (BMD) and rate of osteoporosis between cervical OPLL and a matched control group. We also investigated the correlation o...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-012-9662-x
更新日期:2013-01-01 00:00:00
abstract::We analyzed the bone microarchitecture of the subcapital and basicervical subregions of the femoral neck in men, to determine whether microarchitectural differences of cortical or trabecular bone can explain differential frequency of subcapital vs. basicervical fractures, especially in aged persons. The study sample e...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-020-00717-z
更新日期:2020-09-01 00:00:00
abstract::As tobacco smoking has been identified as a risk factor in the development of osteoporosis, possible deleterious effects of nicotine inhalation on bone mineral density (BMD) and mechanical properties of the femur in female rats were studied. Female Sprague Dawley rats were exposed to nicotine vapour 20 hours a day 5 d...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s002239900692
更新日期:1999-09-01 00:00:00
abstract::Even though indirect evidence indicates that PTH exerts an anabolic effect on dentinogenesis, the existence of PTH receptors and any second-messenger response in odontoblasts have not been demonstrated. The aim of this study was to investigate whether rat incisor odontoblasts express PTH receptors, and to identify whi...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s002239900426
更新日期:1998-03-01 00:00:00
abstract::The diphosphonates dichloromethanediphosphonate (Cl2MDP) and to a minor degree 1-hydroxyethane-1,1-diphosphonate (EDHP) increased the glycogen content in cultured cartilage cells of rabbit ear. This effect was not due to different concentrations of glucose in the medium. ...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF02408621
更新日期:1980-01-01 00:00:00
abstract::Radioiodination of synthetic human 37-49 osteocalcin requires optimal labeling conditions in order to obtain a maximum of mono- and di-iodinated tracer with little contamination by tri- and tetra-iodinated products or "radio-damage." The antibody raised against osteocalcin(h37-49) had the highest affinity for the C-te...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF02555196
更新日期:1986-11-01 00:00:00
abstract::This study examined effects of bone bonding and nonbonding implants on parameters associated with matrix vesicle-mediated primary bone formation, matrix vesicle alkaline phosphatase and phospholipase A2 specific activities, and phosphatidylserine content. Tibia marrow ablation followed by implantation of KG-Cera, Mina...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF00296676
更新日期:1992-12-01 00:00:00
abstract::Paget's disease of bone (PDB) is a chronic and focal bone disorder, characterized by increased osteoclast-mediated bone resorption and a subsequent compensatory increase in bone formation, resulting in a disorganized mosaic of woven and lamellar bone at one or more affected skeletal sites. As a result, bone pain, noti...
journal_title:Calcified tissue international
pub_type: 杂志文章,评审
doi:10.1007/s00223-019-00522-3
更新日期:2019-05-01 00:00:00
abstract::The purpose of this study was to determine whether total serum calcium, parathyroid gland structure, and/or levels of parathyroid hormone, 1,25 and 24,25 DHCC, are altered in pigs with dental and skeletal fluorosis. Eight experimental animals receiving 2 mg F-/kg b.w. per day from age 8-14 months were compared with ei...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF02556714
更新日期:1986-04-01 00:00:00
abstract::MicroRNAs (miRNAs/miRs) are important biomarkers for the progression of intervertebral disc degeneration (IDD). We investigated the role of miR-30d in IDD progression through its interactions with forkhead box O3 (FOXO3) and C-X-C motif ligand 10 (CXCL10). We first measured the expression of miR-30d, FOXO3, and CXCL10...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-020-00760-w
更新日期:2021-02-01 00:00:00
abstract::Vitamin K promotes the formation of gamma-carboxylated glutamate (GLA) in several protein species. GLA residues have a high affinity for the Ca ion. In the present study, we tested the hypothesis that experimental vitamin K deficiency in rats could induce changes in Ca metabolism. Vitamin K depletion, which was associ...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF02554833
更新日期:1985-03-01 00:00:00
abstract::Previous studies have indicated that children with inflammatory bowel disease (IBD) may not achieve optimal bone mass. We evaluated the skeletal characteristics in children and adolescents with IBD. This cross-sectional cohort study comprised 80 IBD patients (median age 14.9 years, range 5-20) with a median disease du...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-012-9617-2
更新日期:2012-08-01 00:00:00
abstract::The objective of this study was to compare the bone mineral density (BMD) of men with Down syndrome (DS) to otherwise mentally retarded (MR) men and to investigate whether leg muscle strength of these patients is related to BMD. Two groups with MR (with and without DS) participated in the study, having met the followi...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s002230010035
更新日期:2000-03-01 00:00:00
abstract::Whole enamel scrapings from unerupted teeth of embryonic calves have been separated into fractions of varying density by stepwise centrifugation in bromoform-toluene mixtures of increasing specific gravity. Partition of enamel in this manner yields individual fractions of increasing mineral phase age and maturation. W...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF02405006
更新日期:1983-01-01 00:00:00
abstract::Postmenopausal osteoporosis induced by estrogen deficiency causes inadequate new bone formation and affects millions of women worldwide. Melatonin can improve bone mineral density at the femoral neck in postmenopausal women with osteopenia. This study aimed to investigate the mechanism of melatonin in estrogen deficie...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-018-0428-y
更新日期:2018-10-01 00:00:00
abstract::Administration of active vitamin D sterols to treat secondary hyperparathyroidism in patients with chronic kidney disease receiving dialysis has been associated with elevated serum calcium and phosphorus levels, which may lead to increased risk of vascular calcification. However, calcimimetics, by binding to the parat...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-006-0126-z
更新日期:2006-12-01 00:00:00
abstract::Several rare inherited disorders have been described that show phenotypic overlap with Paget's disease of bone (PDB) and in which PDB is a component of a multisystem disorder affecting muscle and the central nervous system. These conditions are the subject of this review article. Insertion mutations within exon 1 of t...
journal_title:Calcified tissue international
pub_type: 杂志文章,评审
doi:10.1007/s00223-019-00520-5
更新日期:2019-05-01 00:00:00
abstract::Prosected vertebrae and phalanges from 32 cadavera were examined using noninvasive methods commonly used for assessment of osteoporosis. Bone measures were then compared with a strength variable obtained by mechanically crushing or breaking the bones. All of the phalangeal density assessment techniques were found to b...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF02555150
更新日期:1988-08-01 00:00:00
abstract::GNAS is one of the most complex gene loci in the human genome and encodes multiple gene products including Gsα, XLαs, NESP55, A/B, and AS transcripts. XLαs, the extra-large G protein ɑ-subunit, is paternally expressed. XLɑs and Gsɑ share the common 2-13 exons with different promoters and first exons. Therefore, XLɑs c...
journal_title:Calcified tissue international
pub_type: 杂志文章,评审
doi:10.1007/s00223-020-00714-2
更新日期:2020-09-01 00:00:00
abstract::Bone tissue is a source of growth factors; among them, insulinlike growth factor I (IGF-I) is probably an important local regulator of bone formation. This study has been carried out in order to assess the effects of natural menopause on plasma concentrations of IGF-I in the first 6 years after the cessation of gonada...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF01352006
更新日期:1993-07-01 00:00:00
abstract::Matrix extracellular phosphoglycoprotein (MEPE) is an inhibitor of mineralization in situ and in cell cultures where altered expression is associated with oncogenic osteomalacia and hypophosphatemic rickets. The purpose of this study was to determine whether the intact protein or the peptide(s) originating from this p...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-009-9313-z
更新日期:2010-01-01 00:00:00
abstract::We studied the epidemiology of osteoporotic fractures of the proximal femur (cervical and trochanteric fractures) in residents of Barcelona, aged 45 years or over, for a 1-year period. Fractures resulting from metastases were not included. During the period of observation, a total of 1,358 patients with hip fractures ...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF02555965
更新日期:1989-06-01 00:00:00
abstract::Adiponectin, a protein classically known to be secreted by adipocytes, is also secreted by bone-forming cells. Results of previous studies have been contradictory as to whether serum adiponectin and bone mineral density (BMD) are associated. The aim of this study was to investigate a possible association between serum...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-010-9376-x
更新日期:2010-07-01 00:00:00
abstract::Urinary pyridinoline (pyr) and deoxypyridinoline (dpyr) are new markers for bone resorption, and serum osteocalcin reportedly indicates osteoblastic activity. Recently, a new ultrasound bone densitometer instrument has been developed that measures ultrasonic properties of the os calcis, namely, the speed of sound (SOS...
journal_title:Calcified tissue international
pub_type: 临床试验,杂志文章
doi:10.1007/BF00298555
更新日期:1994-12-01 00:00:00
abstract::The tumor-suppressor p53 is a transcription factor that regulates a number of genes in the process of cell-cycle inhibition, apoptosis, and DNA damage. Recent studies have revealed a crucial role for p53 in bone remodeling. In our previous studies we have shown that p53 is an important regulator of osteoblast differen...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-011-9533-x
更新日期:2011-11-01 00:00:00
abstract::Compressive strength index (CSI) of the femoral neck is a parameter that integrates the information of bone mineral density (BMD), femoral neck width (FNW), and body weight. CSI is considered to have the potential to improve the performance of assessment for hip fracture risk. However, studies on CSI have been rare. I...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/s00223-010-9406-8
更新日期:2010-10-01 00:00:00
abstract::Tartrate resistant acid phosphatase (TRAP) has been proposed as a new biochemical marker for bone resorption. We have compared this new marker, TRAP, with the classical biochemical markers of bone remodelling, serum alkaline phosphatase (sAP), serum osteocalcin (sBGP), and with the urinary hydroxyproline/creatinine ra...
journal_title:Calcified tissue international
pub_type: 杂志文章
doi:10.1007/BF02555896
更新日期:1991-07-01 00:00:00