Mechanistic and therapeutic insights gained from studying rare skeletal diseases.

Abstract:

:Rare bone diseases account for 5% of all birth defects and can cause significant morbidity throughout patients' lives. Significant progress is being made to elucidate the pathophysiological mechanisms underlying these diseases. This paper summarizes presentation highlights of a workshop on Rare Skeletal Diseases convened to explore how the study of rare diseases has influenced the field's understanding of bone anabolism and catabolism and directed the search for new therapies benefiting patients with rare conditions as well as patients with common skeletal disorders.

journal_name

Bone

journal_title

Bone

authors

Tosi LL,Warman ML

doi

10.1016/j.bone.2015.03.016

subject

Has Abstract

pub_date

2015-07-01 00:00:00

pages

67-75

eissn

8756-3282

issn

1873-2763

pii

S8756-3282(15)00094-0

journal_volume

76

pub_type

杂志文章,评审

相关文献

BONE文献大全
  • Trabecular microfracture and the influence of pyridinium and non-enzymatic glycation-mediated collagen cross-links.

    abstract::The propensity of individual trabeculae to fracture (microfracture) may be important clinically since it could be indicative of bone fragility. Whether or not an overloaded trabecula fractures is determined in part by its structural ductility, a mechanical property that describes how much deformation a trabecula can s...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2005.07.019

    authors: Hernandez CJ,Tang SY,Baumbach BM,Hwu PB,Sakkee AN,van der Ham F,DeGroot J,Bank RA,Keaveny TM

    更新日期:2005-12-01 00:00:00

  • Calcitonin-gene-related peptide stimulates stromal cell osteogenic differentiation and inhibits RANKL induced NF-kappaB activation, osteoclastogenesis and bone resorption.

    abstract::Previously we observed that capsaicin treatment in rats inhibited sensory neuropeptide signaling, with a concurrent reduction in trabecular bone formation and bone volume, and an increase in osteoclast numbers and bone resorption. Calcitonin-gene-related peptide (CGRP) is a neuropeptide richly distributed in sensory n...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2009.11.029

    authors: Wang L,Shi X,Zhao R,Halloran BP,Clark DJ,Jacobs CR,Kingery WS

    更新日期:2010-05-01 00:00:00

  • Inhibiting gap junctional intercellular communication alters expression of differentiation markers in osteoblastic cells.

    abstract::Gap junctional intercellular communication (GJIC) may contribute to cellular differentiation. To examine this possibility in bone cells we examined markers of cellular differentiation, including alkaline phosphatase, osteocalcin, and osteopontin, in ROS17/2.8 cells (ROS), a rat osteoblastic cell line expressing phenot...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/s8756-3282(99)00227-6

    authors: Li Z,Zhou Z,Yellowley CE,Donahue HJ

    更新日期:1999-12-01 00:00:00

  • Osteocalcin, adipokines and their associations with glucose metabolism in type 1 diabetes.

    abstract::To determine osteocalcin (OC) and adipokines in type 1 diabetes (T1D) and healthy controls, and to explore possible associations between glucose and bone metabolism, body composition and adipokines. Serum levels of total OC, undercarboxylated (UC-OC), leptin, adiponectin, and other parameters of glucose and bone metab...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2015.04.017

    authors: Neumann T,Lodes S,Kästner B,Franke S,Kiehntopf M,Lehmann T,Müller UA,Wolf G,Sämann A

    更新日期:2016-01-01 00:00:00

  • Orthopedic complications in diabetes.

    abstract::Diabetes is associated with a number of lower extremity orthopedic conditions and complications including fractures, Charcot neuroarthropathy, plantar ulcers, and infection. These complications are of significant clinical concern in terms of morbidity, mortality, and socioeconomic costs. A review of each condition is ...

    journal_title:Bone

    pub_type: 杂志文章,评审

    doi:10.1016/j.bone.2015.07.029

    authors: Gehling DJ,Lecka-Czernik B,Ebraheim NA

    更新日期:2016-01-01 00:00:00

  • Intracortical remodeling in adult rat long bones after fatigue loading.

    abstract::Intracortical remodeling in the adult skeleton removes and replaces areas of compact bone that have sustained microdamage. Although studies have been performed in animal species in which there is an existing baseline of remodeling activity, laboratory rodents have been considered to have limited suitability as models ...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/s8756-3282(98)00104-5

    authors: Bentolila V,Boyce TM,Fyhrie DP,Drumb R,Skerry TM,Schaffler MB

    更新日期:1998-09-01 00:00:00

  • Does nutrition affect bone porosity and mineral tissue distribution in deer antlers? The relationship between histology, mechanical properties and mineral composition.

    abstract::It is well known that porosity has an inverse relationship with the mechanical properties of bones. We examined cortical and trabecular porosity of antlers, and mineral composition, thickness and mechanical properties in the cortical wall. Samples belonged to two deer populations: a captive population of an experiment...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2011.10.026

    authors: Landete-Castillejos T,Currey JD,Ceacero F,García AJ,Gallego L,Gomez S

    更新日期:2012-01-01 00:00:00

  • Long-term effects of ovariectomy on the mechanical properties and chemical composition of rat bone.

    abstract::One hundred Sprague-Dawley rats were ovariectomized (OVX) or sham-operated (Sham) at the age of 12 weeks. Eight or six animals from each group were sacrificed at the following time points: 0, 2, 4, 8, 16, 28, and 40 weeks. Mechanical testing of the bones showed that the maximal load of the femoral neck remained at the...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/s8756-3282(96)00369-9

    authors: Peng ZQ,Väänänen HK,Zhang HX,Tuukkanen J

    更新日期:1997-03-01 00:00:00

  • Investigating the role of the growth hormone-insulin-like growth factor (GH-IGF) axis as a determinant of male bone mineral density (BMD).

    abstract:INTRODUCTION:The GH-IGF axis has profound effects on bone metabolism and may be important in the etiology of idiopathic osteoporosis. Serum IGF-I is often low in men with osteoporosis, which may be attributable to GH hypo-secretion or hepatic GH insensitivity. We studied the GH-IGF axis in depth to look for evidence to...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2005.06.016

    authors: Patel MB,Arden NK,Masterson LM,Phillips DI,Swaminathan R,Syddall HE,Byrne CD,Wood PJ,Cooper C,Holt RI,Hertfordshire Cohort Study Group.

    更新日期:2005-12-01 00:00:00

  • The increased in vitro osteoclastogenesis in patients with rheumatoid arthritis is due to increased percentage of precursors and decreased apoptosis - the In Vitro Osteoclast Differentiation in Arthritis (IODA) study.

    abstract::Increases in local and systemic bone resorption are hallmarks of rheumatoid arthritis (RA). Osteoclasts are implicated in these processes and their enhanced differentiation may contribute to bone destruction. We observed that in vitro osteoclastogenesis varies among healthy individuals and hypothesized that increased ...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2010.10.167

    authors: Durand M,Boire G,Komarova SV,Dixon SJ,Sims SM,Harrison RE,Nabavi N,Maria O,Manolson MF,Mizianty M,Kurgan L,de Brum-Fernandes AJ

    更新日期:2011-03-01 00:00:00

  • Role of prostaglandins in bone resorption in a synchronized remodeling sequence in the rat.

    abstract::The role of prostaglandins (PGs) in physiological remodeling has not yet been defined. The present study was undertaken to determine whether they intervene during the activation phase in a highly reproducible and synchronized model of bone remodeling. Indomethacin was employed to inhibit PG synthesis. This treatment t...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/8756-3282(88)90003-8

    authors: Saffar JL,Leroux P

    更新日期:1988-01-01 00:00:00

  • Prevention of glucocorticoid induced-apoptosis of osteoblasts and osteocytes by protecting against endoplasmic reticulum (ER) stress in vitro and in vivo in female mice.

    abstract::Endoplasmic reticulum (ER) stress is associated with increased reactive oxygen species (ROS), results from accumulation of misfolded/unfolded proteins, and can trigger apoptosis. ER stress is alleviated by phosphorylation of eukaryotic translation initiation factor 2α (eIF2α), which inhibits protein translation allowi...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2014.12.012

    authors: Sato AY,Tu X,McAndrews KA,Plotkin LI,Bellido T

    更新日期:2015-04-01 00:00:00

  • The fabrication of nano-hydroxyapatite on PLGA and PLGA/collagen nanofibrous composite scaffolds and their effects in osteoblastic behavior for bone tissue engineering.

    abstract::Bone is a nanocomposite consisting of two main components, nano-hydroxyapatite (n-HA) and Type I collagen (Col). The aim is to exploit the nano-scale functional and material characteristics of natural bone in order to modulate cellular functions for optimal bone repair in bone graft systems. Here, we present an effect...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2009.03.674

    authors: Ngiam M,Liao S,Patil AJ,Cheng Z,Chan CK,Ramakrishna S

    更新日期:2009-07-01 00:00:00

  • Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.

    abstract::Mandibuloacral dysplasia (MAD) is a rare recessively inherited premature aging disease characterized by skeletal and metabolic anomalies. It is part of the spectrum of diseases called laminopathies and results from mutations in genes regulating the synthesis of the nuclear laminar protein, lamin A. Homozygous or compo...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2010.06.004

    authors: Cunningham VJ,D'Apice MR,Licata N,Novelli G,Cundy T

    更新日期:2010-09-01 00:00:00

  • Short-term activation of liver X receptors inhibits osteoblasts but long-term activation does not have an impact on murine bone in vivo.

    abstract::Liver X receptors (LXRs) are nuclear receptors that play a crucial role in the transcriptional control of lipid metabolism. Pharmacological LXR activation is an attractive concept for the treatment of atherosclerosis. Genetic LXR deficiency in mice has been shown to have an effect on bone turnover and structure and LX...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2010.08.018

    authors: Prawitt J,Beil FT,Marshall RP,Bartelt A,Ruether W,Heeren J,Amling M,Staels B,Niemeier A

    更新日期:2011-02-01 00:00:00

  • International variation in the management of mineral bone disorder in patients with chronic kidney disease: Results from CKDopps.

    abstract:BACKGROUND AND OBJECTIVES:Chronic kidney disease (CKD) is commonly associated with mineral and bone metabolism disorders, but these are less frequently studied in non-dialysis CKD patients than in dialysis patients. We examined and described international variation in mineral and bone disease (MBD) markers and their tr...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2019.115058

    authors: Liabeuf S,McCullough K,Young EW,Pisoni R,Zee J,Reichel H,Pecoits-Filho R,Port FK,Stengel B,Csomor PA,Metzger M,Robinson B,Massy ZA

    更新日期:2019-12-01 00:00:00

  • Everolimus suppresses cancellous bone loss, bone resorption, and cathepsin K expression by osteoclasts.

    abstract::The proliferation inhibitor of the macrolide class, everolimus, is a drug shown to be effective in the prevention of organ transplant rejection and to have a potential in the treatment of rheumatoid arthritis and certain cancers. As these diseases or their current treatments are associated with bone loss, we examined ...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2004.07.013

    authors: Kneissel M,Luong-Nguyen NH,Baptist M,Cortesi R,Zumstein-Mecker S,Kossida S,O'Reilly T,Lane H,Susa M

    更新日期:2004-11-01 00:00:00

  • Low peak bone mineral density in healthy Lebanese subjects.

    abstract::Osteoporosis is a major public health problem in Western countries and is projected to have a similar impact in the Middle East. It has been suggested that peak bone mineral density (BMD), a major determinant of osteoporotic fractures later in life, may be lower in this part of the world compared with the Western worl...

    journal_title:Bone

    pub_type: 临床试验,杂志文章

    doi:10.1016/s8756-3282(02)00845-1

    authors: El-Hajj Fuleihan G,Baddoura R,Awada H,Salam N,Salamoun M,Rizk P

    更新日期:2002-10-01 00:00:00

  • A cumulative analogue joint involvement scale (CAJIS) for fibrodysplasia ossificans progressiva (FOP).

    abstract:BACKGROUND:Fibrodysplasia ossificans progressiva (FOP) is a catastrophic genetic disorder of progressive heterotopic ossification (HO). Assessment of functional mobility in FOP will be essential to support clinical trials of investigational agents. RESULTS:Of necessity, we developed a simple, rapidly-administered, cum...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2017.04.015

    authors: Kaplan FS,Al Mukaddam M,Pignolo RJ

    更新日期:2017-08-01 00:00:00

  • Assessing bone quantity by pQCT.

    abstract::We have tested the ability of the XCT960A to detect bone loss in OVX-rats, as well as bone gain in the proximal tibial metaphysis of healthy rats treated with hPTH(1-34). The results demonstrated that high precision can be achieved, with CV's for most measurement parameters in the range of 1.6 to 5.9% being obtained i...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/8756-3282(95)00287-n

    authors: Gasser JA

    更新日期:1995-10-01 00:00:00

  • Alendronate/vitamin D3 70 mg/2800 IU with and without additional 2800 IU vitamin D3 for osteoporosis: results from the 24-week extension of a 15-week randomized, controlled trial.

    abstract::Although vitamin D supplementation is a fundamental part of osteoporosis treatment, many patients do not regularly take adequate amounts. A once-weekly (OW) alendronate (ALN) preparation that includes 2800 IU of vitamin D3 in a single combination tablet (ALN+D2800) is available for treating patients and ensuring intak...

    journal_title:Bone

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1016/j.bone.2008.05.002

    authors: Binkley N,Ringe JD,Reed JI,Ljunggren O,Holick MF,Minne HW,Liu M,Lamotta A,West JA,Santora AC

    更新日期:2009-04-01 00:00:00

  • Granulocyte-macrophage colony-stimulating factor-dependent CD11c-positive cells differentiate into active osteoclasts.

    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

    authors: Ruef N,Dolder S,Aeberli D,Seitz M,Balani D,Hofstetter W

    更新日期:2017-04-01 00:00:00

  • Evolving gene therapy approaches for osteosarcoma using viral vectors: review.

    abstract::This review begins with an introduction to the malignant bone tumor, osteosarcoma [OS] and then moves to a discussion of the commonly used vectors for gene transfer. We first briefly highlight non-viral vectors including polymeric and liposomal delivery systems but concentrate predominantly on the 5 leading viral vect...

    journal_title:Bone

    pub_type: 杂志文章,评审

    doi:10.1016/j.bone.2006.10.017

    authors: Witlox MA,Lamfers ML,Wuisman PI,Curiel DT,Siegal GP

    更新日期:2007-04-01 00:00:00

  • Determinants of bone gamma-carboxyglutamic acid-containing protein in plasma of healthy aging subjects.

    abstract::The gamma-carboxy glutamic acid (Gla)-containing protein of mammalian bone (BGP, also called osteocalcin) is a 49 amino acid polypeptide containing two to three residues of gamma-carboxyglutamic acid. BGP is synthesized by osteoblastlike cells, and plasma BGP in laboratory animals is derived principally from recently ...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/8756-3282(85)90400-4

    authors: Catherwood BD,Marcus R,Madvig P,Cheung AK

    更新日期:1985-01-01 00:00:00

  • Differentially circulating miRNAs after recent osteoporotic fractures can influence osteogenic differentiation.

    abstract::Osteoporosis is the consequence of altered bone metabolism resulting in the systemic reduction of bone strength and increased risk of fragility fractures. MicroRNAs (miRNAs) regulate gene expression on a post-transcriptional level and are known to take part in the control of bone formation and bone resorption. In addi...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2015.05.027

    authors: Weilner S,Skalicky S,Salzer B,Keider V,Wagner M,Hildner F,Gabriel C,Dovjak P,Pietschmann P,Grillari-Voglauer R,Grillari J,Hackl M

    更新日期:2015-10-01 00:00:00

  • Clinical burden and incremental cost of fractures in postmenopausal women in the United Kingdom.

    abstract::This cohort study of postmenopausal women in the United Kingdom aged ≥50years determined the incremental cost of health care and clinical outcomes in the 12months following incident, selected fractures (non-vertebral non-hip [NVNHF], vertebral [VF] and multiple [MF]). Incremental costs and outcomes of the fracture coh...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2012.05.020

    authors: Gutiérrez L,Roskell N,Castellsague J,Beard S,Rycroft C,Abeysinghe S,Shannon P,Gitlin M,Robbins S

    更新日期:2012-09-01 00:00:00

  • A new active vitamin D3 analog, eldecalcitol, prevents the risk of osteoporotic fractures--a randomized, active comparator, double-blind study.

    abstract:BACKGROUND:Eldecalcitol is an analog of 1,25-dihydroxyvitamin D(3) that improves bone mineral density; however, the effect of eldecalcitol on the risk of fractures is unclear. The objective of this study is to examine whether eldecalcitol is superior to alfacalcidol in preventing osteoporotic fractures. This trial is r...

    journal_title:Bone

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/j.bone.2011.07.011

    authors: Matsumoto T,Ito M,Hayashi Y,Hirota T,Tanigawara Y,Sone T,Fukunaga M,Shiraki M,Nakamura T

    更新日期:2011-10-01 00:00:00

  • Estrogen and calcium supplement use among Japanese-American women: effects upon bone loss when used singly and in combination.

    abstract::We examined the effects of estrogen and calcium supplementation upon bone loss among a cohort of Japanese-American women. The women averaged 64 years of age (age range 45-81) and 14 years postmenopause at their initial examination in 1981. They returned at 1-3-year intervals for subsequent examinations, most recently ...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/s8756-3282(95)00249-9

    authors: Davis JW,Ross PD,Johnson NE,Wasnich RD

    更新日期:1995-10-01 00:00:00

  • Impaired bone healing pattern in mice with ovariectomy-induced osteoporosis: A drill-hole defect model.

    abstract:OBJECTIVE:To establish a drill-hole defect model in osteoporotic mouse femur by comparing temporal cortical bone healing pattern between OVX-induced osteoporotic bone and sham-operated bone. METHODS:3-month-old female C57BL/6 mice were randomly divided into an ovariectomy group (OVX) and a sham-operated group (Sham). ...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2011.03.720

    authors: He YX,Zhang G,Pan XH,Liu Z,Zheng LZ,Chan CW,Lee KM,Cao YP,Li G,Wei L,Hung LK,Leung KS,Qin L

    更新日期:2011-06-01 00:00:00

  • Botulinum toxin in masticatory muscles: short- and long-term effects on muscle, bone, and craniofacial function in adult rabbits.

    abstract::Paralysis of the masticatory muscles using botulinum toxin (BTX) is a common treatment for cosmetic reduction of the masseters as well as for conditions involving muscle spasm and pain. The effects of this treatment on mastication have not been evaluated, and claims that the treatment unloads the jaw joint and mandibl...

    journal_title:Bone

    pub_type: 杂志文章

    doi:10.1016/j.bone.2011.11.015

    authors: Rafferty KL,Liu ZJ,Ye W,Navarrete AL,Nguyen TT,Salamati A,Herring SW

    更新日期:2012-03-01 00:00:00