Osteogenesis imperfecta
Summary Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by d...
Gespeichert in:
Veröffentlicht in: | The Lancet (British edition) 2016-04, Vol.387 (10028), p.1657-1671 |
---|---|
Hauptverfasser: | , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 1671 |
---|---|
container_issue | 10028 |
container_start_page | 1657 |
container_title | The Lancet (British edition) |
container_volume | 387 |
creator | Forlino, Antonella, PhD Marini, Joan C, Dr |
description | Summary Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology and have contributed to an improved understanding of normal bone development. Defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, have been described in patients with osteogenesis imperfecta. Knowledge of the specific molecular basis of each form of the disorder will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches. In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them into five groups on the basis of the metabolic pathway compromised, specifically those related to collagen synthesis, structure, and processing; post-translational modification; folding and cross-linking; mineralisation; and osteoblast differentiation. |
doi_str_mv | 10.1016/S0140-6736(15)00728-X |
format | Article |
fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7384887</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S014067361500728X</els_id><sourcerecordid>1805497933</sourcerecordid><originalsourceid>FETCH-LOGICAL-c635t-3de95f6d6e78185df3f3bd6bda1be8636c27bf318da23617c8436e008d9dad253</originalsourceid><addsrcrecordid>eNqFkU1PGzEQhq2qFaSBc0-gSlzoYYu_7VyCKtTSSkgcACm3kdeepQ6b3WBvIvHvu0kglFw4-TDPPJ6Zl5AjRr8zyvTZDWWSFtoIfcrUN0oNt8XkAxkwaWShpJl8JIMtsk8-5zyllEpN1R7Z51pJLi0bkC_XucP2HhvMMX-NszmmCn3nDsinytUZD5_fIbn79fP24ndxdX355-LHVeG1UF0hAo5UpYNGY5lVoRKVKIMug2MlWi2056asBLPBcaGZ8VYKjZTaMAoucCWGZLzxzhflDIPHpkuuhnmKM5eeoHUR3laa-Bfu2yUYYaW1phecPgtS-7jA3MEsZo917RpsFxmYpUqOzEiI91FjFWeK9zMOyckOOm0XqekvsaaMsoLynlIbyqc254TVdm5GYZUSrFOCVQTAFKxTgknfd_z_0tuul1h64HwDYH_6ZcQE2UdsPIaY-nQgtPHdL8Y7Bl_HJnpXP-AT5tdtIHOgG8nKwdTaMBH_AI7ptWE</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1785758302</pqid></control><display><type>article</type><title>Osteogenesis imperfecta</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals Complete</source><creator>Forlino, Antonella, PhD ; Marini, Joan C, Dr</creator><creatorcontrib>Forlino, Antonella, PhD ; Marini, Joan C, Dr</creatorcontrib><description>Summary Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology and have contributed to an improved understanding of normal bone development. Defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, have been described in patients with osteogenesis imperfecta. Knowledge of the specific molecular basis of each form of the disorder will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches. In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them into five groups on the basis of the metabolic pathway compromised, specifically those related to collagen synthesis, structure, and processing; post-translational modification; folding and cross-linking; mineralisation; and osteoblast differentiation.</description><identifier>ISSN: 0140-6736</identifier><identifier>ISSN: 1474-547X</identifier><identifier>EISSN: 1474-547X</identifier><identifier>DOI: 10.1016/S0140-6736(15)00728-X</identifier><identifier>PMID: 26542481</identifier><identifier>CODEN: LANCAO</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Bone Density Conservation Agents - therapeutic use ; Bone diseases ; Bones ; Calcification, Physiologic - genetics ; Cell Differentiation - genetics ; Collagen ; Collagen Type I - genetics ; Disease Management ; Endoplasmic reticulum ; Extracellular matrix ; Fractures ; Genes ; Genetic Predisposition to Disease ; Humans ; Internal Medicine ; Mineralization ; Mutation ; Osteoblasts - pathology ; Osteogenesis - genetics ; Osteogenesis Imperfecta - diagnosis ; Osteogenesis Imperfecta - genetics ; Osteogenesis Imperfecta - therapy ; Protein Processing, Post-Translational - genetics ; Proteins</subject><ispartof>The Lancet (British edition), 2016-04, Vol.387 (10028), p.1657-1671</ispartof><rights>Elsevier Ltd</rights><rights>2016 Elsevier Ltd</rights><rights>Copyright © 2016 Elsevier Ltd. All rights reserved.</rights><rights>Copyright Elsevier Limited Apr 16, 2016</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c635t-3de95f6d6e78185df3f3bd6bda1be8636c27bf318da23617c8436e008d9dad253</citedby><cites>FETCH-LOGICAL-c635t-3de95f6d6e78185df3f3bd6bda1be8636c27bf318da23617c8436e008d9dad253</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S014067361500728X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26542481$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Forlino, Antonella, PhD</creatorcontrib><creatorcontrib>Marini, Joan C, Dr</creatorcontrib><title>Osteogenesis imperfecta</title><title>The Lancet (British edition)</title><addtitle>Lancet</addtitle><description>Summary Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology and have contributed to an improved understanding of normal bone development. Defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, have been described in patients with osteogenesis imperfecta. Knowledge of the specific molecular basis of each form of the disorder will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches. In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them into five groups on the basis of the metabolic pathway compromised, specifically those related to collagen synthesis, structure, and processing; post-translational modification; folding and cross-linking; mineralisation; and osteoblast differentiation.</description><subject>Bone Density Conservation Agents - therapeutic use</subject><subject>Bone diseases</subject><subject>Bones</subject><subject>Calcification, Physiologic - genetics</subject><subject>Cell Differentiation - genetics</subject><subject>Collagen</subject><subject>Collagen Type I - genetics</subject><subject>Disease Management</subject><subject>Endoplasmic reticulum</subject><subject>Extracellular matrix</subject><subject>Fractures</subject><subject>Genes</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Mineralization</subject><subject>Mutation</subject><subject>Osteoblasts - pathology</subject><subject>Osteogenesis - genetics</subject><subject>Osteogenesis Imperfecta - diagnosis</subject><subject>Osteogenesis Imperfecta - genetics</subject><subject>Osteogenesis Imperfecta - therapy</subject><subject>Protein Processing, Post-Translational - genetics</subject><subject>Proteins</subject><issn>0140-6736</issn><issn>1474-547X</issn><issn>1474-547X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkU1PGzEQhq2qFaSBc0-gSlzoYYu_7VyCKtTSSkgcACm3kdeepQ6b3WBvIvHvu0kglFw4-TDPPJ6Zl5AjRr8zyvTZDWWSFtoIfcrUN0oNt8XkAxkwaWShpJl8JIMtsk8-5zyllEpN1R7Z51pJLi0bkC_XucP2HhvMMX-NszmmCn3nDsinytUZD5_fIbn79fP24ndxdX355-LHVeG1UF0hAo5UpYNGY5lVoRKVKIMug2MlWi2056asBLPBcaGZ8VYKjZTaMAoucCWGZLzxzhflDIPHpkuuhnmKM5eeoHUR3laa-Bfu2yUYYaW1phecPgtS-7jA3MEsZo917RpsFxmYpUqOzEiI91FjFWeK9zMOyckOOm0XqekvsaaMsoLynlIbyqc254TVdm5GYZUSrFOCVQTAFKxTgknfd_z_0tuul1h64HwDYH_6ZcQE2UdsPIaY-nQgtPHdL8Y7Bl_HJnpXP-AT5tdtIHOgG8nKwdTaMBH_AI7ptWE</recordid><startdate>20160416</startdate><enddate>20160416</enddate><creator>Forlino, Antonella, PhD</creator><creator>Marini, Joan C, Dr</creator><general>Elsevier Ltd</general><general>Elsevier Limited</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>0TT</scope><scope>0TZ</scope><scope>0U~</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7RV</scope><scope>7TK</scope><scope>7U7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88C</scope><scope>88E</scope><scope>88G</scope><scope>88I</scope><scope>8AF</scope><scope>8AO</scope><scope>8C1</scope><scope>8C2</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AN0</scope><scope>ASE</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FPQ</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K6X</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>KB~</scope><scope>LK8</scope><scope>M0R</scope><scope>M0S</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>S0X</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20160416</creationdate><title>Osteogenesis imperfecta</title><author>Forlino, Antonella, PhD ; Marini, Joan C, Dr</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c635t-3de95f6d6e78185df3f3bd6bda1be8636c27bf318da23617c8436e008d9dad253</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Bone Density Conservation Agents - therapeutic use</topic><topic>Bone diseases</topic><topic>Bones</topic><topic>Calcification, Physiologic - genetics</topic><topic>Cell Differentiation - genetics</topic><topic>Collagen</topic><topic>Collagen Type I - genetics</topic><topic>Disease Management</topic><topic>Endoplasmic reticulum</topic><topic>Extracellular matrix</topic><topic>Fractures</topic><topic>Genes</topic><topic>Genetic Predisposition to Disease</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Mineralization</topic><topic>Mutation</topic><topic>Osteoblasts - pathology</topic><topic>Osteogenesis - genetics</topic><topic>Osteogenesis Imperfecta - diagnosis</topic><topic>Osteogenesis Imperfecta - genetics</topic><topic>Osteogenesis Imperfecta - therapy</topic><topic>Protein Processing, Post-Translational - genetics</topic><topic>Proteins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Forlino, Antonella, PhD</creatorcontrib><creatorcontrib>Marini, Joan C, Dr</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>News PRO</collection><collection>Pharma and Biotech Premium PRO</collection><collection>Global News & ABI/Inform Professional</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Healthcare Administration Database (Alumni)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Lancet Titles</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>British Nursing Index</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>British Nursing Index (BNI) (1985 to Present)</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>British Nursing Index</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Newsstand Professional</collection><collection>ProQuest Biological Science Collection</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Healthcare Administration Database</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The Lancet (British edition)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Forlino, Antonella, PhD</au><au>Marini, Joan C, Dr</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Osteogenesis imperfecta</atitle><jtitle>The Lancet (British edition)</jtitle><addtitle>Lancet</addtitle><date>2016-04-16</date><risdate>2016</risdate><volume>387</volume><issue>10028</issue><spage>1657</spage><epage>1671</epage><pages>1657-1671</pages><issn>0140-6736</issn><issn>1474-547X</issn><eissn>1474-547X</eissn><coden>LANCAO</coden><abstract>Summary Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology and have contributed to an improved understanding of normal bone development. Defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, have been described in patients with osteogenesis imperfecta. Knowledge of the specific molecular basis of each form of the disorder will advance clinical diagnosis and potentially stimulate targeted therapeutic approaches. In this Seminar, together with diagnosis, management, and treatment, we describe the defects causing osteogenesis imperfecta and their mechanism and interrelations, and classify them into five groups on the basis of the metabolic pathway compromised, specifically those related to collagen synthesis, structure, and processing; post-translational modification; folding and cross-linking; mineralisation; and osteoblast differentiation.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>26542481</pmid><doi>10.1016/S0140-6736(15)00728-X</doi><tpages>15</tpages><oa>free_for_read</oa></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0140-6736 |
ispartof | The Lancet (British edition), 2016-04, Vol.387 (10028), p.1657-1671 |
issn | 0140-6736 1474-547X 1474-547X |
language | eng |
recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7384887 |
source | MEDLINE; Elsevier ScienceDirect Journals Complete |
subjects | Bone Density Conservation Agents - therapeutic use Bone diseases Bones Calcification, Physiologic - genetics Cell Differentiation - genetics Collagen Collagen Type I - genetics Disease Management Endoplasmic reticulum Extracellular matrix Fractures Genes Genetic Predisposition to Disease Humans Internal Medicine Mineralization Mutation Osteoblasts - pathology Osteogenesis - genetics Osteogenesis Imperfecta - diagnosis Osteogenesis Imperfecta - genetics Osteogenesis Imperfecta - therapy Protein Processing, Post-Translational - genetics Proteins |
title | Osteogenesis imperfecta |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-10T19%3A59%3A13IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Osteogenesis%20imperfecta&rft.jtitle=The%20Lancet%20(British%20edition)&rft.au=Forlino,%20Antonella,%20PhD&rft.date=2016-04-16&rft.volume=387&rft.issue=10028&rft.spage=1657&rft.epage=1671&rft.pages=1657-1671&rft.issn=0140-6736&rft.eissn=1474-547X&rft.coden=LANCAO&rft_id=info:doi/10.1016/S0140-6736(15)00728-X&rft_dat=%3Cproquest_pubme%3E1805497933%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1785758302&rft_id=info:pmid/26542481&rft_els_id=S014067361500728X&rfr_iscdi=true |