{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T04:50:41Z","timestamp":1776487841029,"version":"3.51.2"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T00:00:00Z","timestamp":1668729600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T00:00:00Z","timestamp":1668729600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Osteoporos Int"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1007\/s00198-022-06609-2","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T02:02:56Z","timestamp":1668736976000},"page":"405-411","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis"],"prefix":"10.1007","volume":"34","author":[{"given":"Pilar","family":"Peris","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Monegal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riikka E.","family":"M\u00e4kitie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuria","family":"Gua\u00f1abens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Gonz\u00e1lez-Roca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,11,18]]},"reference":[{"issue":"4","key":"6609_CR1","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1016\/j.ajhg.2013.02.010","volume":"92","author":"K Keupp","year":"2013","unstructured":"Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O et al (2013) Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet 92(4):565\u2013574","journal-title":"Am J Hum Genet"},{"issue":"19","key":"6609_CR2","doi-asserted-by":"publisher","first-page":"1809","DOI":"10.1056\/NEJMoa1215458","volume":"368","author":"CM Laine","year":"2013","unstructured":"Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M et al (2013) WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med 368(19):1809\u20131816","journal-title":"N Engl J Med"},{"issue":"11","key":"6609_CR3","doi-asserted-by":"publisher","first-page":"2419","DOI":"10.1002\/ajmg.a.40347","volume":"176","author":"S Alhamdi","year":"2018","unstructured":"Alhamdi S, Lee YC, Chowdhury S, Byers PH, Gottschalk M, Taft RJ et al (2018) Heterozygous WNT1 variant causing a variable bone phenotype. Am J Med Genet A 176(11):2419\u20132424","journal-title":"Am J Med Genet A"},{"issue":"9","key":"6609_CR4","doi-asserted-by":"publisher","first-page":"1734","DOI":"10.1002\/jbmr.2841","volume":"31","author":"RE M\u00e4kitie","year":"2016","unstructured":"M\u00e4kitie RE, Haanp\u00e4\u00e4 M, Valta H, Pekkinen M, Laine CM, Lehesjoki AE et al (2016) Skeletal characteristics of WNT1 osteoporosis in children and young adults. J Bone Miner Res 31(9):1734\u20131742","journal-title":"J Bone Miner Res"},{"issue":"4","key":"6609_CR5","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1016\/j.ajhg.2013.02.009","volume":"92","author":"SM Pyott","year":"2013","unstructured":"Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT et al (2013) WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet 92(4):590\u2013597","journal-title":"Am J Hum Genet"},{"key":"6609_CR6","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.bone.2014.06.041","volume":"67","author":"T Palomo","year":"2014","unstructured":"Palomo T, Al-Jallad H, Moffatt P, Glorieux FH, Lentle B, Roschger P et al (2014) Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations. Bone 67:63\u201370","journal-title":"Bone"},{"key":"6609_CR7","doi-asserted-by":"publisher","unstructured":"Luther J, Yorgan TA, Rolvien T, Ulsamer L, Koehne T, Liao N et al (2018) Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Sci Transl Med 10(466):eaau7137. https:\/\/doi.org\/10.1126\/scitranslmed.aau7137.","DOI":"10.1126\/scitranslmed.aau7137"},{"key":"6609_CR8","doi-asserted-by":"crossref","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet 17(5):405\u201324.","DOI":"10.1038\/gim.2015.30"},{"issue":"7809","key":"6609_CR9","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alf\u00f6ldi J, Wang Q et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434\u2013443","journal-title":"Nature"},{"issue":"1","key":"6609_CR10","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1002\/mgg3.257","volume":"5","author":"JA Caparros-Martin","year":"2016","unstructured":"Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J et al (2016) Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. Mol Genet Genomic Med 5(1):28\u201339","journal-title":"Mol Genet Genomic Med"},{"key":"6609_CR11","doi-asserted-by":"publisher","DOI":"10.1016\/j.bonr.2022.101176","volume":"16","author":"C Rouleau","year":"2022","unstructured":"Rouleau C, Malorie M, Collet C, Porquet-Bordes V, Gennero I, Eddiry S et al (2022) Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre. Bone Rep 16:101176. https:\/\/doi.org\/10.1016\/j.bonr.2022.101176","journal-title":"Bone Rep"},{"issue":"6","key":"6609_CR12","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1002\/ajmg.a.61119","volume":"179","author":"S Nampoothiri","year":"2019","unstructured":"Nampoothiri S, Guillemyn B, Elcioglu N, Jagadeesh S, Yesodharan D, Suresh B et al (2019) Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. Am J Med Genet A 179(6):908\u2013914","journal-title":"Am J Med Genet A"},{"issue":"5","key":"6609_CR13","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1007\/s00223-021-00885-6","volume":"110","author":"O M\u00e4kitie","year":"2022","unstructured":"M\u00e4kitie O, Zillikens MC (2022) Early-onset osteoporosis. Calcif Tissue Int 110(5):546\u2013561","journal-title":"Calcif Tissue Int"},{"issue":"9","key":"6609_CR14","doi-asserted-by":"publisher","first-page":"1726","DOI":"10.1002\/jbmr.4043","volume":"35","author":"TA Yorgan","year":"2020","unstructured":"Yorgan TA, Rolvien T, St\u00fcrznickel J, Vollersen N, Lange F, Zhao W et al (2020) Mice carrying a ubiquitous R235W mutation of Wnt1 display a bone-specific phenotype. J Bone Miner Res 35(9):1726\u20131737","journal-title":"J Bone Miner Res"},{"key":"6609_CR15","doi-asserted-by":"crossref","unstructured":"Schmal H, Brix M, Bue M, Ekman A, Ferreira N, Gottlieb H et al. Nonunion - consensus from the 4th annual meeting of the Danish Orthopaedic Trauma Society (2020) EFORT Open Rev 5(1):46\u201357","DOI":"10.1302\/2058-5241.5.190037"},{"issue":"2","key":"6609_CR16","first-page":"535","volume":"102","author":"VV V\u00e4lim\u00e4ki","year":"2017","unstructured":"V\u00e4lim\u00e4ki VV, M\u00e4kitie O, Pereira R, Laine C, Wesseling-Perry K, M\u00e4\u00e4tt\u00e4 J et al (2017) Teriparatide treatment in patients with WNT1 or PLS3 mutation-related early-onset osteoporosis: a pilot study. J Clin Endocrinol Metab 102(2):535\u2013544","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"6609_CR17","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1002\/jbmr.3959","volume":"35","author":"RE M\u00e4kitie","year":"2020","unstructured":"M\u00e4kitie RE, K\u00e4mpe A, Costantini A, Alm JJ, Magnusson P, M\u00e4kitie O (2020) Biomarkers in WNT1 and PLS3 osteoporosis: altered concentrations of DKK1 and FGF23. J Bone Miner Res 35(5):901\u2013912","journal-title":"J Bone Miner Res"},{"key":"6609_CR18","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2021.115900","volume":"146","author":"N Fratzl-Zelman","year":"2021","unstructured":"Fratzl-Zelman N, Wesseling-Perry K, M\u00e4kitie RE, Blouin S, Hartmann MA, Zwerina J et al (2021) Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations. Bone 146:115900. https:\/\/doi.org\/10.1016\/j.bone.2021.115900","journal-title":"Bone"},{"key":"6609_CR19","doi-asserted-by":"publisher","unstructured":"Willert K, Nusse R (2012) Wnt proteins. Cold Spring Harb Perspect Biol 4(9):a007864. https:\/\/doi.org\/10.1101\/cshperspect.a007864","DOI":"10.1101\/cshperspect.a007864"}],"container-title":["Osteoporosis International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00198-022-06609-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00198-022-06609-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00198-022-06609-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T17:45:54Z","timestamp":1674495954000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00198-022-06609-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,18]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["6609"],"URL":"https:\/\/doi.org\/10.1007\/s00198-022-06609-2","relation":{},"ISSN":["0937-941X","1433-2965"],"issn-type":[{"value":"0937-941X","type":"print"},{"value":"1433-2965","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,18]]},"assertion":[{"value":"11 July 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 November 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 November 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}}