Abstract:
OBJECTIVE:Scottish fold cats, named for their unique ear shape, have a dominantly inherited osteochondrodysplasia involving malformation in the distal forelimbs, distal hindlimbs and tail, and progressive joint destruction. This study aimed to identify the gene and the underlying variant responsible for the osteochondrodysplasia. DESIGN:DNA samples from 44 Scottish fold and 54 control cats were genotyped using a feline DNA array and a case-control genome-wide association analysis conducted. The gene encoding a calcium permeable ion channel, transient receptor potential cation channel, subfamily V, member 4 (TRPV4) was identified as a candidate within the associated region and sequenced. Stably transfected HEK293 cells were used to compare wild-type and mutant TRPV4 expression, cell surface localisation and responses to activation with a synthetic agonist GSK1016709A, hypo-osmolarity, and protease-activated receptor 2 stimulation. RESULTS:The dominantly inherited folded ear and osteochondrodysplasia in Scottish fold cats is associated with a p.V342F substitution (c.1024G>T) in TRPV4. The change was not found in 648 unaffected cats. Functional analysis in HEK293 cells showed V342F mutant TRPV4 was poorly expressed at the cell surface compared to wild-type TRPV4 and as a consequence the maximum response to a synthetic agonist was reduced. Mutant TRPV4 channels had a higher basal activity and an increased response to hypotonic conditions. CONCLUSIONS:Access to a naturally-occurring TRPV4 mutation in the Scottish fold cat will allow further functional studies to identify how and why the mutations affect cartilage and bone development.
journal_name
Osteoarthritis Cartilagejournal_title
Osteoarthritis and cartilageauthors
Gandolfi B,Alamri S,Darby WG,Adhikari B,Lattimer JC,Malik R,Wade CM,Lyons LA,Cheng J,Bateman JF,McIntyre P,Lamandé SR,Haase Bdoi
10.1016/j.joca.2016.03.019subject
Has Abstractpub_date
2016-08-01 00:00:00pages
1441-50issue
8eissn
1063-4584issn
1522-9653pii
S1063-4584(16)30013-9journal_volume
24pub_type
杂志文章abstract:OBJECTIVE:As cartilage loss and bone marrow lesions (BMLs) are associated with knee joint pain and structural worsening, this study assessed whether non-invasive estimates of articular contact stress may longitudinally predict risk for worsening of knee cartilage morphology and BMLs. DESIGN:This was a longitudinal coh...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2012.05.013
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:To assess the influence of pre-operative X-ray changes on the response to total knee joint replacement (TKR). METHODS:We included patients from one centre who underwent primary TKR (n = 478) for osteoarthritis in 2006 and 2007. The International Knee Society score (IKSS) and short form health survey were col...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2012.05.015
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:Macromolecules of the articular cartilage extracellular matrix released into synovial fluid, blood, or urine can serve as potentially useful biomarkers of the severity of osteoarthritis (OA). Biomechanical factors play an important role in OA pathogenesis, yet their influence on biomarker production is not we...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2005.07.003
更新日期:2005-12-01 00:00:00
abstract::Animal models of osteoarthritis (OA) are essential tools for investigating the development of the disease on a more rapid timeline than human OA. Mice are particularly useful due to the plethora of genetically modified or inbred mouse strains available. The majority of available mouse models of OA use a joint injury o...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,评审
doi:10.1016/j.joca.2015.05.009
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVES:To compare the epigenetic landscape of 3D cell models of human primary articular chondrocytes (hPACs) and human bone-marrow derived mesenchymal stem cells (hBMSCs) and their respective autologous articular cartilage. DESIGN:Using Illumina Infinium HumanMethylation450 BeadChip arrays, the DNA methylation lan...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2016.03.009
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to investigate the effects of hypo-osmotically induced calcium (Ca(2+)) transients on the organization of the actin cytoskeleton in articular chondrocytes. The secondary hypothesis tested was that actin restructuring following hypo-osmotic stress is mediated by gelsolin. METHODS:Iso...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1053/s1063-4584(02)00347-3
更新日期:2003-03-01 00:00:00
abstract:OBJECTIVE:A significant risk factor for anterior cruciate ligament (ACL) tears in young athletes is a reduced femoral Notch Width Index (NWI). The purpose of this study was to test if persons with knee osteoarthritis (OA) and ACL tears have smaller NWI independent of prior joint injury and osteophyte volume. METHODS:W...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,多中心研究
doi:10.1016/j.joca.2009.09.006
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:We investigated whether innate differences in cytokine response were associated with the absence of osteoarthritis (OA) in old age. DESIGN:In 82 participants from a cross-sectional birth cohort, radiographs of hands, hips and knees were taken at the age of 90 years. OA was defined as a Kellgren-Lawrence scor...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2010.03.016
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVES:Knee osteoarthritis (OA) onset and progression has been defined with transitions in Kellgren-Lawrence (KL) grade or Osteoarthritis Research Society International (OARSI) Joint Space Narrowing (JSN) grade. We quantitatively describe one-year transitions in KL grade and JSN, using fixed joint space width (fJSW...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2018.05.014
更新日期:2018-09-01 00:00:00
abstract:OBJECTIVE:To determine the within- and between-patient variability in the concentrations of synovial fluid, serum and urine markers of joint tissue metabolism in a cohort of patients with knee pain and cartilage changes consistent with early-stage knee osteoarthritis. DESIGN:Samples of synovial fluid, serum, and urine...
journal_title:Osteoarthritis and cartilage
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1053/joca.1998.0134
更新日期:1998-09-01 00:00:00
abstract:OBJECTIVE:Marathon runners have an increased risk of developing joint disease. During and after a 42-km run, elevation of multiple cytokines occurs in the blood, reflecting inflammatory processes. We compared this cytokine response with serum levels of cartilage oligomeric matrix protein (COMP) and melanoma inhibitory ...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1053/joca.1999.0293
更新日期:2000-05-01 00:00:00
abstract:OBJECTIVE:To determine the effects of interleukin (IL)-6 and oncostatin M (OSM) added separately or in combination with IL-1beta on human osteoarthritic (OA) chondrocytes in alginate beads. DESIGN:Human chondrocytes were isolated from OA cartilage and cultured in alginate beads for 12 days, in the absence or in the pr...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2004.06.011
更新日期:2004-10-01 00:00:00
abstract:OBJECTIVES:Age-related changes in articular cartilage are likely to play a role in the aetiology of osteoarthritis (OA). One of the major age-related changes in cartilage is the accumulation of advanced-glycation-endproducts (AGEs). Since, cartilage tissue is not readily available from patients for studying AGE levels,...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,多中心研究
doi:10.1016/j.joca.2010.07.006
更新日期:2010-10-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to assess the inter-observer reliability and intra-observer reproducibility of the Ahlbäck radiographic classification for knee osteoarthritis (OA). DESIGN:Ninety-six knee radiographs of patients with clinical signs of arthritis were evaluated and classified into five grades of Ahlbä...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/s1063-4584(03)00095-5
更新日期:2003-08-01 00:00:00
abstract:OBJECTIVE:miR-122 stimulates proliferation of growth plate chondrocytes whereas miR-451 stimulates terminal differentiation and matrix turnover. Here, we examined the potential of these microRNA as regulators of articular chondrocytes using an in vitro model of osteoarthritis. METHODS:miR-122 and miR-451 presence in r...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2020.09.004
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:To investigate changes in knee 3D bone shape over the first 5 years after acute anterior cruciate ligament (ACL) injury in participants of the randomized controlled KANON-trial. METHODS:Serial MR images over 5 years from 121 young (32 women, mean age 26.1 years) adults with an acute ACL tear in a previously...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.joca.2018.12.021
更新日期:2019-04-01 00:00:00
abstract:OBJECTIVE:To examine the effect of beta-aminopropionitrile (BAPN), an inhibitor of lysyl oxidase, on growth and remodeling of immature articular cartilage in vitro. DESIGN:Immature bovine articular cartilage explants from the superficial and middle layers were cultured for 13 days in serum-containing medium with or wi...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2007.05.019
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To describe the association between knee and hip radiographic osteoarthritis (ROA), a measure of knee pain, stiffness and functional ability and objectively measured physiological falls risk predictors. METHODS:Cross-sectional, population-based study of 850 randomly selected men and women aged 50-80 years (m...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2005.12.007
更新日期:2006-06-01 00:00:00
abstract:PURPOSE:Biomarkers provide useful diagnostic information by detecting cartilage degradation in osteoarthritis (OA), reflecting disease-relevant biological activity and predicting the course of disease progression. They also serve as surrogate endpoints in the drug discovery process. The aim of this narrative review was...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,评审
doi:10.1016/j.joca.2012.07.009
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVES:To investigate the secretion profiles of matrix metalloproteinases (MMP) and their inhibitors (TIMP) in synovial fluid-derived fibroblasts and to compare them with those of tissue-derived fibroblasts. METHODS:Fibroblast cultures established from synovial tissues (TSC) and fluids (FSC) of the same OA patient...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2004.02.005
更新日期:2004-05-01 00:00:00
abstract:OBJECTIVE:Animal models recapitulating post-traumatic osteoarthritis (OA) suggest that subchondral bone (SCB) properties and remodeling may play major roles in disease initiation and progression. Thus, we investigated the role of SCB properties and its effects on load-induced OA progression by applying a tibial loading...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2017.08.016
更新日期:2017-12-01 00:00:00
abstract:OBJECTIVE AND METHODS:To evaluate the immune-modulator effect of chondroitin sulfate (CS) by means of the review of the literature. RESULTS:Inflammatory reactions are primarily originated by infectious agents, immune reactions and by sterile tissue lesions that activate membrane receptors by means of pathogen-associat...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,评审
doi:10.1016/j.joca.2010.02.017
更新日期:2010-06-01 00:00:00
abstract:OBJECTIVE:To compare femorotibial cartilage thickness changes over a 2- vs a 1-year observation period in knees with radiographic knee osteoarthritis (OA). METHODS:One knee of 346 Osteoarthritis Initiative (OAI) participants was studied at three time points [baseline (BL), year-1 (Y1), year-2 (Y2) follow-up]: 239 usin...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/j.joca.2010.10.022
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:To compare measurement properties of the P4 pain scale, Western Ontario and McMaster Universities Arthritis Index pain subscale (WOMAC-pain), and Intermittent and Constant Osteoarthritis Pain (ICOAP) measure in patients with knee osteoarthritis (OA). DESIGN:A secondary analysis from a randomized controlled t...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.joca.2014.03.018
更新日期:2014-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy of preparations with avocado-soybean unsaponifiables (ASUs) in osteoarthritis (OA) patients using meta-analysis on randomized controlled trials (RCTs). METHOD:RCTs from systematic searches were included if they explicitly stated that hip and/or knee OA patients were randomized to eit...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.joca.2007.10.003
更新日期:2008-04-01 00:00:00
abstract:OBJECTIVE:Summarize the comparative effectiveness of oral non-steroidal anti-inflammatory drugs (NSAIDs) and opioids in reducing knee osteoarthritis (OA) pain. METHODS:Two reviewers independently screened reports of randomized controlled trials (RCTs), published in English between 1982 and 2015, evaluating oral NSAIDs...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,评审
doi:10.1016/j.joca.2016.01.135
更新日期:2016-06-01 00:00:00
abstract:OBJECTIVE:To examine the correlation between synovial fluid cartilage markers and degree of cartilage damage determined by arthroscopic evaluation in subjects with acute knee injury. DESIGN:Chondral damage was quantified using a validated arthroscopic scoring system in 20 subjects with effusive acute knee injuries of ...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/s1063-4584(97)80046-5
更新日期:1997-11-01 00:00:00
abstract:OBJECTIVE:To investigate the safety, tolerability, pharmacokinetics, and pharmacodynamics of ABT-981, a human dual variable domain immunoglobulin simultaneously targeting interleukin (IL)-1α and IL-1β, in patients with knee osteoarthritis (OA). METHOD:This was a randomized, double-blind, placebo-controlled, single-cen...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.joca.2017.09.007
更新日期:2017-12-01 00:00:00
abstract:OBJECTIVE:To characterise in vitro engineered cartilaginous constructs made employing a novel static, scaffold-free and closed chamber system. DESIGN:Chondrocytes derived from slaughter age pigs (3-6 months) were seeded at high density (20 x 10(6)) into cylindrical chambers (1.0 x 0.5cm) and were maintained between an...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章
doi:10.1016/s1063-4584(03)00053-0
更新日期:2003-06-01 00:00:00
abstract:OBJECTIVE:The relative differences in effectiveness of subchondral stimulation, osteochondral grafts, and autologous chondrocyte implantation (ACI) are still unclear. It is the objective of this study to systematically review the literature on ACI compared to other treatments by clinical outcome and the quality of the ...
journal_title:Osteoarthritis and cartilage
pub_type: 杂志文章,评审
doi:10.1016/j.joca.2010.03.005
更新日期:2010-06-01 00:00:00