Abstract：
:A positional cloning effort in French Canadian families with Paget's disease of bone (PDB) resulted in the identification of a mutation in the sequestosome1 (SQSTM1) gene in a subset of both familial and sporadic PDB cases. This was confirmed in samples of mainly United Kingdom (UK) origin. In this study, we performed both mutation analysis and association studies in order to evaluate the role of this gene in a collection of isolated Belgian PDB patients. A mutation in the SQSTM1 gene was found in only 6 of 111 patients (5.4%). In all cases it involves the P392L mutation, previously shown to be common in both familial and sporadic cases. To perform association studies, we selected 8 single nucleotide polymorphisms (SNPs) and looked for linkage disequilibrium (LD) between these. Haplotype analysis indicated that typing of 3 Tag SNPs (IVS1 + 633A/C, IVS5 - 23A/G, and 976A/G) enables us to identify the most common haplotypes. Association studies for the 3 selected SNPs, based on 105 PDB cases without a SQSTM1 mutation and 159 control individuals, did not support a possible influence of natural variants in the SQSTM1 gene either on the pathogenesis of PDB or on the disease severity. In conclusion, our study confirms that the P392L mutation is a recurrent mutation causing PDB in different populations. We were not able to show an association between SQSTM1 polymorphisms and PDB in our population but this clearly needs to be extended to other populations. The presented identification of haplotype Tag SNPs will be of major help for such studies.
journal_name
Calcif Tissue Intjournal_title
Calcified tissue internationalauthors
Beyens G,Van Hul E,Van Driessche K,Fransen E,Devogelaer JP,Vanhoenacker F,Van Offel J,Verbruggen L,De Clerck L,Westhovens R,Van Hul Wdoi
10.1007/s00223-004-0244-4subject
Has Abstractpub_date
2004-08-01 00:00:00pages
144-52issue
2eissn
0171-967Xissn
1432-0827journal_volume
75pub_type
杂志文章abstract：:The relationship between bisphosphonate-induced bone mineral density (BMD) gains and antifracture efficacy remains to be fully elucidated. Data from two antifracture studies were analyzed. Postmenopausal osteoporotic women received oral (2.5 mg daily, 20 mg intermittent) or intravenous (0.5 mg, 1 mg quarterly) ibandro...
journal_title：Calcified tissue international
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00223-010-9403-y
更新日期：2010-10-01 00:00:00
abstract：:Although radiogenic free radicals are widely used as molecular probes in biological calcified tissues, their nature and their location remain controversial. In the present study we have synthesized and irradiated apatites in which 13CO3(2-) ions substitute hydroxyl or phosphate ions in hydroxyapatite. The 13C-coupling...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:Osteoarthritis and sarcopenia are the most frequently described musculoskeletal disorders in older persons but the intertwining of these conditions and of their functional and cellular causes is complex. This narrative review aims to identify the links between osteoarthritis and sarcopenia described 1-in clinical stud...
journal_title：Calcified tissue international
pub_type： 杂志文章,评审
doi：10.1007/s00223-020-00703-5
更新日期：2020-09-01 00:00:00
abstract：:The aim of this study was to investigate bone mineral density (BMD) and bone turnover in patients with primary knee osteoarthritis (KOA) and to compare them with generalized OA (GOA) and nonGOA patients. A total of 88 postmenopausal primary KOA patients were studied. OA was graded by using knee radiographs. BMD of the...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002230010068
更新日期：2000-05-01 00:00:00
abstract：:Osteoclasts are multinucleated cells that carry out bone resorption. Analysis of the direct effect of hormones on the bone-resorbing activity of human osteoclasts has been limited by difficulties in isolating these cells from the human skeleton. In this study, human osteoclasts formed from cultures of peripheral blood...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-001-2128-1
更新日期：2002-12-01 00:00:00
abstract：:The goals of internal fixation are an accurate reduction and stable fixation in the presence of adequate bony vascularity. This can be achieved by a variety of means including plate fixation. A certain amount of periosteal stripping is necessary for proper open reduction of a fracture and for proper plate application....
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900080
更新日期：1996-07-01 00:00:00
abstract：:The binding of prostaglandin E2 (PGE2) to bone cells was studied to provide direct evidence for the existence of specific receptors in bone. Bone cells were isolated by collagenase digestion of fetal and newborn rat calvaria. Isolated cells were incubated with 3H-PGE2 and collected on Millipore filters. Specific bindi...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405038
更新日期：1983-01-01 00:00:00
abstract：:The effects of fluoride on human enamel and selachian enameloid in vitro were visualized in TEM and analyzed with electron diffraction. It is demonstrated that under precise pH conditions, inducing concentration balance between F-ions and apatite, calcium fluoride is no longer formed, and crystalline changes occur ins...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02409406
更新日期：1981-01-01 00:00:00
abstract：:A comparative polarized light (PLM), scanning (SEM), and transmission (TEM) electron microscopy study was carried out on cross- and longitudinal sections of human lamellar bone in the tibiae of four male subjects aged 9, 23, 45, and 70 years. SEM analysis was also performed on rectangular-prismatic samples in order to...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF01673402
更新日期：1993-01-01 00:00:00
abstract：:The evidence now strongly supports a central role for oestrogen in the maintenance of the normal female skeleton. Loss of endogenous oestrogen leads to a period of accelerated bone loss which can be prevented with appropriate oestrogen replacement. The route of administration is not important provided adequate dosages...
journal_title：Calcified tissue international
pub_type： 杂志文章,评审
doi：10.1007/BF02555090
更新日期：1991-01-01 00:00:00
abstract：:We conducted a case-control study on fracture risk associated with the use of orally administered prednisolone/prednisone, budesonide, methylprednisolone, and hydrocortisone to assess if the various preparations were associated with different fracture patterns. Cases were all subjects with any fracture sustained durin...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-008-9124-7
更新日期：2008-04-01 00:00:00
abstract：:Studies of the effect of parathyroidectomy (PTX) on bone turnover in patients with the combination of primary hyperparathyroidism (PHPT) and Paget's disease (PD) are largely limited to case reports. The etiology of the combination is disputed. We report 30 patients and their biochemical (n = 17) and histomorphometric ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900728
更新日期：1999-12-01 00:00:00
abstract：:Seventy-two eugonadal women, mean age 39 +/- 4 years, with a z score for total body bone mineral content (BMC) of less than -1.5 (mean -1.80 +/- 0.12) were selected from a previous screening study of normal values of total body and regional BMC in women using dual-energy X-ray absorptiometry. The women were distribute...
journal_title：Calcified tissue international
pub_type： 临床试验,杂志文章
doi：10.1007/BF00334327
更新日期：1994-06-01 00:00:00
abstract：:The purpose of this study was to examine the effects of green tea extract (GTE) intake on bone structural and physiological properties, such as bone mass, trabecular bone microarchitecture, cortical bone geometry, and bone mechanical strength, in growing rats. Four-week-old male Wistar rats were divided into the follo...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-017-0358-0
更新日期：2018-03-01 00:00:00
abstract：:In humans, gastric surgery results in in osteopenia via mechanisms that are insufficiently understood; surgery-induced changes in the hormonal axes involving the stomach, thyroid, and the parathyroids may play a role. To study this in more detail, we evaluated calcium (Ca), magnesium (Mg), and phosphorus (P) metabolis...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900553
更新日期：1998-11-01 00:00:00
abstract：:Ultrasound measurements of the calcaneus are related to incidence of osteoporotic fracture. Such measurements are generally made at fixed coordinates relative to a footplate. This study compares measurements at an anatomically located region of interest (ROIanat) and at fixed coordinates (ROIfixed), with bone mineral ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF00298991
更新日期：1995-07-01 00:00:00
abstract：:The severest long-term complications of orthopedic joint-prostheses are associated with loosening of the implant-bone interface, due to adverse reactions in bone and subsequent weakening of the connection between the two materials. Mechanical stresses, caused by joint loading, play a key role in the adaption of interf...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02406143
更新日期：1984-01-01 00:00:00
abstract：:We have recently reported that risedronate preserves normal bone formation and decreases bone remodeling in women with postmenopausal osteoporosis after 3 years of treatment. We report now the results of a 2-year extension study. The primary objective of this study was to determine the effect of 5 years of risedronate...
journal_title：Calcified tissue international
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/s00223-004-0039-7
更新日期：2004-12-01 00:00:00
abstract：:Bone mineralization density distribution (BMDD) is an important determinant of bone mechanical properties. The most available skeletal site for access to the BMDD is the iliac crest. Compared to cancellous bone much less information on BMDD is available for cortical bone. Hence, we analyzed complete transiliac crest b...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-014-9901-4
更新日期：2014-10-01 00:00:00
abstract：:The increased uptake of bone-seeking radionuclides following a fracture has been stated to be due to an increase in bone blood flow, resulting in an increase in capillary surface area available for exchange. This paper examines the relationship between the maximum instantaneous extraction of 99mTc-MDP and blood flow i...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405085
更新日期：1983-07-01 00:00:00
abstract：:Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) mRNA levels are commonly used as an internal control to normalize gene expression data based on the belief that this gene is constitutively expressed. However, GAPDH mRNA levels increased by more than 2.5-fold in tibiae of hindlimb unloaded female rats compared to L32 m...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-002-1098-2
更新日期：2004-02-01 00:00:00
abstract：:To assess the reductions in bone mass, strength, and turnover in adjuvant-induced arthritic rats and to examine the effect of a new benzamide compound, DU-6712, on these parameters, a 28-day dosing experiment was performed using 8-week-old female Lewis rats. Arthritis was induced by injecting the adjuvant into the hin...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900472
更新日期：1998-06-01 00:00:00
abstract：:Age-related loss of skeletal muscle is associated with increased risk of functional limitation and cardiovascular (CV) mortality. In the elderly abdominal aortic calcification (AAC) can increase CV risk by altering aortic properties which may raise blood pressure and increase cardiac workload. This study investigated ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-016-0157-z
更新日期：2016-10-01 00:00:00
abstract：:Osteoblasts in vitro differentiate from a proliferating to a mineralizing phenotype upon transfer to a medium rich in beta-glycerophosphate and ascorbic acid. The nutritional requirements of the cells at different stages of this differentiation process are not known. In other cell types, nutritional supplementation du...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-011-9537-6
更新日期：2011-12-01 00:00:00
abstract：:Mononuclear phagocytes have been implicated as important cellular elements in the process of bone resorption. We have postulated that the recruitment and migration of mononuclear phagocytes to bone occurs via a mechanism(s) in which bone-derived chemotactic factors (BDCF) are released from foci undergoing resorption. ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02557681
更新日期：1985-01-01 00:00:00
abstract：:Mechanical forces applied to cultured bone cells induce the production of cAMP via stimulation of the formation of prostaglandin E2 (PGE2) and its release into the medium, resulting in stimulation of adenylate cyclase. In this paper we show that either the antibiotic gentamycin (100 micrograms/ml) or antiphospholipid ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02553753
更新日期：1988-04-01 00:00:00
abstract：:The effect of ipriflavone (IP), a synthetic isoflavonoid derivative, on in vivo bone formation was studied in rat perialveolar bone by surgically producing a hole in the mandibular bone. The holes were filled either with powdered IP or with compounds containing no osteoinductive properties such as biostite and Htr (ha...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900533
更新日期：1998-10-01 00:00:00
abstract：:The purpose of this study was to investigate the mineral induction capacity in vitro of polyanionic proteins covalently bound to a surface. Rat dentin gamma-carboxyglutamate-containing protein of the osteocalcin type (Gla-protein), proteoglycan (PG), and phosphoprotein (PP-H), as well as phosvitin (PhV) and bovine ser...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02553763
更新日期：1989-04-01 00:00:00
abstract：:Pregnancy and lactation-associated osteoporosis (PAO) is a rare condition with little known pathophysiology. Most cases are diagnosed in the third trimester of pregnancy or in the first weeks postpartum, particularly in first pregnancies. Vertebral fractures are most commonly observed and characterised by prolonged se...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-015-0028-z
更新日期：2015-10-01 00:00:00
abstract：:The aims of this study were to compare the response to therapy in disease activity in pagetic patients with and without skull involvement and the usefulness of bone markers in the evaluation of these patients. Forty patients with Paget's disease treated with tiludronate and 26 healthy controls were included. Serum tot...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-005-0247-9
更新日期：2006-07-01 00:00:00
