Abstract:
:The SIBLINGs are a subfamily of the secreted calcium-binding phosphoproteins and comprise five small integrin-binding ligand N-linked glycoproteins [dentin matrix protein-1 (DMP1), secreted phosphoprotein-1 (SPP1) also called osteopontin (OPN), integrin-binding sialoprotein (IBSP) also called bone sialoprotein (BSP), matrix extracellular phosphoglycoprotein (MEPE), and dentin sialophosphoprotein (DSPP)]. Each SIBLING has at least one "acidic, serine- and aspartic acid-rich motif" (ASARM) and multiple Ser-x-Glu/pSer sequences that when phosphorylated promote binding of the protein to hydroxyapatite for regulation of biomineralization. Mendelian disorders from loss-of-function mutation(s) of the genes that encode the SIBLINGs thus far involve DSPP causing various autosomal dominant dysplasias of dentin but without skeletal disease, and DMP1 causing autosomal recessive hypophosphatemic rickets, type 1 (ARHR1). No diseases have been reported from gain-of-function mutation(s) of DSPP or DMP1 or from alterations of SPP1, IBSP, or MEPE. Herein, we describe severe hypophosphatemic osteosclerosis and hyperostosis associated with skeletal deformity, short stature, enthesopathy, tooth loss, and high circulating FGF23 levels in a middle-aged man and young woman from an endogamous family living in southern India. Both shared novel homozygous mutations within two genes that encode a SIBLING protein: stop-gain ("nonsense") DMP1 (c.556G>T,p.Glu186Ter) and missense SPP1 (c.769C>T,p.Leu266Phe). The man alone also carried novel heterozygous missense variants within two additional genes that condition mineral homeostasis and are the basis for autosomal recessive disorders: CYP27B1 underlying vitamin D dependent rickets, type 1, and ABCC6 underlying both generalized arterial calcification of infancy, type 2 and pseudoxanthoma elasticum (PXE). By immunochemistry, his bone contained high amounts of OPN, particularly striking surrounding osteocytes. We review how our patients' disorder may represent the first digenic SIBLING protein osteopathy.
journal_name
Bonejournal_title
Boneauthors
Whyte MP,Amalnath SD,McAlister WH,McKee MD,Veis DJ,Huskey M,Duan S,Bijanki VN,Alur S,Mumm Sdoi
10.1016/j.bone.2019.115190subject
Has Abstractpub_date
2020-03-01 00:00:00pages
115190eissn
8756-3282issn
1873-2763pii
S8756-3282(19)30486-7journal_volume
132pub_type
杂志文章相关文献
BONE文献大全abstract::E-Series prostaglandins (PGE) are powerful osteogenic substances when given in vivo. The purpose of this work was to determine the ability of locally administered PGE1 to promote alveolar bone formation. Controlled-release pellets containing PGE1 were implanted on the lateral mandibular surface of Beagle dogs and tiss...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/8756-3282(93)90198-j
更新日期:1993-05-01 00:00:00
abstract::Sulfate conjugation is an important pathway in the metabolism of many drugs, xenobiotic compounds, and hormones. Sulfotransferases (SULTs) catalyze these reactions and have been detected and characterized in various human tissues including the liver and small intestine. Substrates for SULTs that include estrogen and t...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/s8756-3282(01)00463-x
更新日期:2001-06-01 00:00:00
abstract::Osteoporosis and fracture risk are common complex diseases, caused by an interaction of numerous disease susceptibility genes and environmental factors. With the advances in genomic technologies, large-scale genome-wide association studies (GWAS) have been performed which have broadened our understanding of the geneti...
journal_title:Bone
pub_type: 杂志文章,评审
doi:10.1016/j.bone.2019.04.005
更新日期:2019-09-01 00:00:00
abstract::Ectopic calcification of soft tissues can have severe clinical consequences especially when localized to vital organs such as heart, arteries and kidneys. Mammalian stanniocalcin (STC) 1 and 2 are glycoprotein hormones identified as calcium/phosphate-regulating hormones. The mRNA of STCs is upregulated in the kidney o...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2012.01.006
更新日期:2012-04-01 00:00:00
abstract::The combination of PTH with OPG has been proposed as a potential therapy in patients with severe osteoporosis. In the present study, we examined the bone material of aged ovariectomized (OVX) rats treated either with PTH (1-34) or OPG alone or in combination of both. The micro- and nanostructural characteristics of th...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2005.03.013
更新日期:2005-07-01 00:00:00
abstract:PURPOSE:The positive effects of denosumab (DMAb) on bone mineral density (BMD) are quickly reversible after its discontinuation. We investigated whether this rebound was associated with dysregulation of the Wnt canonical pathway and/or by the increase in the receptor-activator of nuclear factor-kappa B ligand (RANKL) s...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2019.03.019
更新日期:2019-06-01 00:00:00
abstract::A characteristic relationship for bone between bone volume fraction (BV/TV) and specific surface (BS/TV) has previously been proposed based on 2D histological measurements. This relationship has been suggested to be bone intrinsic, i.e., to not depend on bone type, bone site and health state. In these studies, only li...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2014.11.016
更新日期:2015-03-01 00:00:00
abstract::Levels of circulating cytokines are elevated in inflammatory diseases. Previously, it was shown that interleukin (IL-)17A, in synergism with 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] and tumor necrosis factor α (TNFα), induces the release of granulocyte-macrophage colony-stimulating factor (GM-CSF) by murine osteoblasts ...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2017.01.036
更新日期:2017-04-01 00:00:00
abstract::We investigated the function of Ca2+ in the activation of phosphatidylcholine (PC)-hydrolyzing phospholipase D (PLD) in osteoblast-like MC3T3-E1 cells. Fetal calf serum (FCS) stimulated the formation of choline in a dose-dependent manner in the range between 0.6% and 10%. The effect of a combination of FCS and 12-O-te...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/s8756-3282(96)00185-8
更新日期:1996-10-01 00:00:00
abstract::Osteoclasts are multinucleated cells of monocyte/macrophage origin that degrade bone matrix. The differentiation of osteoclasts is dependent on a tumor necrosis factor (TNF) family cytokine, receptor activator of nuclear factor (NF)-kappaB ligand (RANKL), as well as macrophage colony-stimulating factor (M-CSF). Congen...
journal_title:Bone
pub_type: 杂志文章,评审
doi:10.1016/j.bone.2006.09.023
更新日期:2007-02-01 00:00:00
abstract::Mechanical signal transduction in bone tissue begins with load-induced activation of several cellular pathways in the osteocyte population. A key pathway that participates in mechanotransduction is Wnt/Lrp5 signaling. A putative downstream mediator of activated Lrp5 is the nucleocytoplasmic shuttling protein β-catenin...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2016.04.028
更新日期:2016-07-01 00:00:00
abstract::Sclerosteosis and van Buchem disease are two rare bone sclerosing dysplasias caused by genetic defects in the synthesis of sclerostin. In this article we review the demographic, clinical, biochemical, radiological, and histological characteristics of patients with sclerosteosis and van Buchem disease that led to a bet...
journal_title:Bone
pub_type: 杂志文章,评审
doi:10.1016/j.bone.2016.10.010
更新日期:2017-03-01 00:00:00
abstract::GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in GLB1 encoding a lysosomal β-galactosidase. This disease is a continuum from the severe infantile form with rapid neurological decline to the chronic adult form, which is not life-limiting. The intermediate or type 2 form can be further classifie...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2019.115142
更新日期:2020-02-01 00:00:00
abstract:INTRODUCTION:Osteocalcin (OC) is the most abundant non-collagenous bone protein and is determinant for bone mineralization. We aimed to compare OC bone expression and serum factors related to its carboxylation in hip fragility fracture and osteoarthritis patients. We also aimed to identify which of these factors were a...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2012.08.129
更新日期:2012-12-01 00:00:00
abstract::Serum PINP has emerged as a reliable marker of bone turnover in humans and is routinely used to monitor bone formation. However, the effects of PTH (1-34) on bone turnover have not been evaluated following short-term treatment. We present data demonstrating that PINP is an early serum biomarker in the rat for assessin...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2006.11.027
更新日期:2007-04-01 00:00:00
abstract::Previous reports have shown that bone mass and architecture will partially recover by remobilization (RM) in immobilization (IM)-induced osteopenia. The aim of this study was to test whether PTH can accelerate the recovery during RM from the IM-induced osteopenia. Six-month-old Sprague-Dawley female rats were divided ...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/8756-3282(95)00295-o
更新日期:1995-10-01 00:00:00
abstract::Increased levels of reactive oxygen species (ROS) are a crucial pathogenic factor of osteoporosis. Gastrodin, isolated from the traditional Chinese herbal agent Gastrodia elata, is a potent antioxidant. We hypothesized that gastrodin demonstrates protective effects against osteoporosis by partially reducing reactive o...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2014.12.059
更新日期:2015-04-01 00:00:00
abstract::Fractal analysis is a method for describing complex shapes, including the cancellous structure of bone. It describes the surface texture and form of individual trabecular profiles and the overall cancellous structure. Sixty-four postmenopausal women with symptoms of back pain were referred for investigation for osteop...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/s8756-3282(98)00063-5
更新日期:1998-07-01 00:00:00
abstract::Low-intensity pulsed ultrasound (LIPUS) has distinct effects on biologic mineralization at intensities of <100 mW/cm2. Intensity-dependent differences in the pattern of accelerated mineralization may be due to different alterations in regulation of collagenous matrix formation. However, little is known about the influ...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2004.04.024
更新日期:2004-09-01 00:00:00
abstract::General dental practitioners use a vast amount of panoramic radiography in their routine clinical work, but valuable information about patients' osteoporotic status is not collected. There are many reasons for this, but one of the prime reasons must be the disruption involved in clinical routine with lengthy manual ra...
journal_title:Bone
pub_type: 杂志文章,多中心研究
doi:10.1016/j.bone.2006.10.024
更新日期:2007-04-01 00:00:00
abstract::Approximately 7.9 million fractures occur annually in the United States with 5-10% of these resulting in delayed or impaired healing. Nearly half of the trauma cost of $56 billion per year is used for the treatment of fractures. More importantly, fracture results in a substantial reduction in the quality of life. New ...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2011.06.037
更新日期:2011-11-01 00:00:00
abstract::On the basis of previous investigations indicating that the distribution of osteonic and interstitial lamellae in a normal femur depends on its mechanical properties, a procedure has been devised to provide information on the distribution of lamellae in human femora diaphyses deformed by bending. To achieve this, exac...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/8756-3282(87)90009-3
更新日期:1987-01-01 00:00:00
abstract::Twenty patients with mild Paget's disease of bone were given either 20 (10 patients) or 40 mg alendronate daily for 6 months. The 20-mg dose was well tolerated, but in 3 patients on 40 mg/d alendronate, the treatment was withdrawn after 3-5 months because of gastric and oesophageal disturbances. Urinary hydroxyproline...
journal_title:Bone
pub_type: 临床试验,杂志文章
doi:10.1016/8756-3282(94)90818-4
更新日期:1994-07-01 00:00:00
abstract::The correlation between bone mineral density and vertebral strength is not based on mechanical principles and thus the method cannot reflect the effects of subtle geometric features and densitometric inhomogeneities that may substantially affect vertebral strength. Finite element models derived from quantitative compu...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/s8756-3282(03)00210-2
更新日期:2003-10-01 00:00:00
abstract:OBJECTIVE:The pathogenesis of osteonecrosis of the femoral head (ONFH) probably reflects multiple etiologies. Recent studies have explored associations between genetic mutations and/or polymorphisms and ONFH. Annexins (ANXs) have been implicated in many physiological functions, including blood coagulation, inflammation...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2009.03.670
更新日期:2009-07-01 00:00:00
abstract:PURPOSE:Bone acquisition in childhood impacts adult bone mass, and can be influenced by childhood socioeconomic conditions. Socioeconomic status is also associated with body weight which affects the load that bone is exposed to in a fall. We hypothesized that socioeconomic advantage in childhood is associated with grea...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2013.06.021
更新日期:2013-10-01 00:00:00
abstract::Physician recommendation for prophylactic surgical fixation of a femur with metastatic bone disease (MBD) is usually based on Mirels' criteria and clinical experience, both of which suffer from poor specificity. This may result in a significant number of these health compromised patients undergoing unnecessary surgery...
journal_title:Bone
pub_type: 杂志文章
doi:10.1016/j.bone.2018.02.011
更新日期:2018-05-01 00:00:00
abstract:BACKGROUND:Skeletal loading and proper nutrition are necessary for optimal bone health. The appropriate amount of dietary protein to maximize skeletal health, however, is under constant debate. OBJECTIVE:To determine if 6 months of protein supplementation in conjunction with a strength and conditioning training progra...
journal_title:Bone
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.bone.2005.10.020
更新日期:2006-06-01 00:00:00
abstract::Pseudoachondroplasia (PSACH), a severe short-limbed dwarfing condition, is associated with life-long joint pain and early onset osteoarthritis. PSACH is caused by mutations in cartilage oligomeric matrix protein (COMP), a pentameric matricellular protein expressed primarily in cartilage and other musculoskeletal tissu...
journal_title:Bone
pub_type: 杂志文章,评审
doi:10.1016/j.bone.2017.03.045
更新日期:2017-09-01 00:00:00
abstract::The Mediterranean osteoporosis (MEDOS) study was carried out in 14 centres from six countries in Southern Europe to determine the incidence rates and risk factors associated with hip fracture over the age of 50 years. This paper discusses both the validity and relevance of the data, that is, whether the number of coll...
journal_title:Bone
pub_type: 杂志文章,多中心研究
doi:10.1016/8756-3282(93)90349-f
更新日期:1993-01-01 00:00:00