For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
5
views
81
references
 Top references
cited by
22
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      363
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

      review-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. Candidate gene association studies (CGASs) along with genome-wide association studies (GWASs) and genome-wide linkage analyses (GWLAs) have found numerous genes and loci with susceptible DDH association. Studies put major importance on candidate genes associated with the formation of connective tissue (COL1A1), osteogenesis (PAPPA2, GDF5), chondrogenesis (UQCC1, ASPN) and cell growth, proliferation and differentiation (TGFB1). Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies.

          Related collections

          Most cited references81

          • Record: found
          • Abstract: found
          • Article: not found

          Pregnancy-associated plasma protein-A2 (PAPP-A2), a novel insulin-like growth factor-binding protein-5 proteinase.

          Randy Jensen, Cheryl Conover, Sandra Laursen … (2001)
          A novel metalloproteinase with similarity to pregnancy-associated plasma protein-A (PAPP-A), which we denoted PAPP-A2, has been identified. Through expression in mammalian cells we showed that recombinant PAPP-A2 polypeptide of 1558 residues resulted from processing of a 1791-residue prepro-protein. Unlike PAPP-A, PAPP-A2 migrated as a monomer (of 220 kDa) in non-reducing SDS-polyacrylamide gel electrophoresis. The prepro-parts of PAPP-A2 and PAPP-A are not homologous, but mature PAPP-A2 shares 45% of its residues with PAPP-A. Because PAPP-A specifically cleaves insulin-like growth factor-binding protein (IGFBP)-4, one of six known modulators of IGF-I and -II, we looked for a possible PAPP-A2 substrate among the members of this family. We showed that PAPP-A2 specifically cleaved IGFBP-5 at one site, between Ser-143 and Lys-144. In contrast to the cleavage of IGFBP-4 by PAPP-A that strictly requires the presence of IGF, the cleavage of IGFBP-5 by PAPP-A2 was IGF-independent. Recent data firmly establish PAPP-A and IGFBP-4 as an important functional pair in several systems. Because of its close relationship with PAPP-A, both structurally and functionally, PAPP-A2 is a likely candidate IGFBP-5 proteinase in many tissues and conditioned media where IGFBP-5 proteolysis has been reported.
          Article 0 comments Cited 72 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Hip disease and the prognosis of total hip replacements. A review of 53,698 primary total hip replacements reported to the Norwegian Arthroplasty Register 1987-99.

            S. E. Vollset, Lars B Engesæter, O Furnes … (2001)
            We studied the rates of revision for 53,698 primary total hip replacements (THRs) in nine different groups of disease. Factors which have previously been shown to be associated with increased risk of revision, such as male gender, young age, or certain types of uncemented prosthesis, showed important differences between the diagnostic groups. Without adjustment for these factors we observed an increased risk of revision in patients with paediatric hip diseases and in a small heterogeneous 'other' group, compared with patients with primary osteoarthritis. Most differences were reduced or disappeared when an adjustment for the prognostic factors was made. After adjustment, an increased relative risk (RR) of revision compared with primary osteoarthritis was seen in hips with complications after fracture of the femoral neck (RR = 1.3, p = 0.0005), in hips with congenital dislocation (RR = 1.3, p = 0.03), and in the heterogenous 'other' group. The analyses were also undertaken in a more homogenous subgroup of 16,217 patients which had a Charnley prosthesis implanted with high-viscosity cement. The only difference in this group was an increased risk for revision in patients who had undergone THR for complications after fracture of the femoral neck (RR = 1.5, p = 0.0005). THR for diagnoses seen mainly among young patients had a good prognosis, but they had more often received inferior uncemented implants. If a cemented Charnley prosthesis is used, the type of disease leading to THR seems in most cases to have only a minor influence on the survival of the prosthesis.
            Article 0 comments Cited 68 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5.

              T Matsumoto, M. Kimura, H. Yamashita … (1996)
              Growth/differentiation factor-5 (GDF-5) is a member of the bone morphogenetic protein (BMP) family, which plays an important role in bone development in vivo. Mutations in the GDF-5 gene result in brachypodism in mice and Hunter-Thompson type chondrodysplasia in human. BMPs transduce their effects through binding to two different types of serine/threonine kinase receptors, type I and type II. However, binding abilities appear to be different among the members of the BMP family. BMP-4 binds to two different type I receptors, BMP receptors type IA (BMPR-IA) and type IB (BMPR-IB), and a type II receptor, BMP receptor type II (BMPR-II). In addition to these receptors, osteogenic protein-1 (OP-1, also known as BMP-7) binds to activin type I receptor (ActR-I) as well as activin type II receptors (ActR-II and ActR-IIB). Here we investigate the binding and signaling properties of GDF-5 through type I and type II receptors. GDF-5 induced alkaline phosphatase activity in a rat osteoprogenitor-like cell line, ROB-C26. 125I-GDF-5 bound to BMPR-IB and BMPR-II but not to BMPR-IA in ROB-C26 cells and other nontransfected cell lines. Analysis using COS-1 cells transfected with the receptor cDNAs revealed that GDF-5 bound to BMPR-IB but not to the other type I receptors when expressed alone. When COS-1 cells were transfected with type II receptor cDNAs, GDF-5 bound to ActR-II, ActR-IIB, and BMPR-II but not to transforming growth factor-beta type II receptor. In the presence of type II receptors, GDF-5 bound to different sets of type I receptors, but the binding was most efficient to BMPR-IB compared with the other type I receptors. Moreover, a transcriptional activation signal was efficiently transduced by BMPR-IB in the presence of BMPR-II or ActR-II after stimulation by GDF-5. These results suggest that BMPR-IB mediates certain signals for GDF-5 after forming the heteromeric complex with BMPR-II or ActR-II.
              Article 0 comments Cited 65 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Medicina (Kaunas)
                Journal ID (publisher-id): medicina
                Title: Medicina
                Publisher: MDPI
                ISSN (Print): 1010-660X
                ISSN (Electronic): 1648-9144
                Publication date (Electronic): 31 March 2020
                Publication date Collection: April 2020
                Volume: 56
                Issue: 4
                Electronic Location Identifier: 153
                Affiliations
                [1 ]Faculty of Medicine, Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University in Bratislava, 811-08 Bratislava, Slovakia; lubica.krajciova@ 123456fmed.uniba.sk (L.K.); lubos.danisovic@ 123456fmed.uniba.sk (L.D.)
                [2 ]Department of Orthopedics, Faculty of Medicine, Comenius University and National Institute of Children’s Diseases, 833-40 Bratislava, Slovakia; radozamborsky@ 123456gmail.com (R.Z.); kokavec@ 123456dfnsp.sk (M.K.)
                Author notes
                [* ]Correspondence: stefan.harsanyi@ 123456fmed.uniba.sk ; Tel.: +421-2-59357-299
                Author information
                https://orcid.org/0000-0002-7889-4898
                https://orcid.org/0000-0002-5074-9621
                Article
                Publisher ID: medicina-56-00153
                DOI: 10.3390/medicina56040153
                PMC ID: 7230892
                PubMed ID: 32244273
                SO-VID: 30df1e49-ee90-4f68-8120-98b4af46c0ee
                Copyright © © 2020 by the authors.
                License:

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 29 February 2020
                Date accepted : 28 March 2020
                Categories
                Subject: Review

                Keywords: developmental dysplasia of the hip,ddh,genetics,epigenetics,risk factor
                Data availability:
                Keywords: developmental dysplasia of the hip, ddh, genetics, epigenetics, risk factor

                Comments

                Comment on this article

                scite_

                Similar content363

                See all similar

                Cited by22

                See all cited by

                Most referenced authors799

                See all reference authors