{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T04:33:59Z","timestamp":1779338039224,"version":"3.51.4"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2018,1,12]],"date-time":"2018-01-12T00:00:00Z","timestamp":1515715200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001031","name":"Australian Respiratory Council","doi-asserted-by":"publisher","award":["1130"],"award-info":[{"award-number":["1130"]}],"id":[{"id":"10.13039\/501100001031","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000391","name":"Association for International Cancer Research","doi-asserted-by":"publisher","award":["09\u20100752"],"award-info":[{"award-number":["09\u20100752"]}],"id":[{"id":"10.13039\/501100000391","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["BE1550\/6\u20101"],"award-info":[{"award-number":["BE1550\/6\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>\u2003<\/jats:title><jats:p>The X-linked WTX\/AMER1 protein constitutes an important component of the \u03b2-catenin destruction complex that can both enhance and suppress canonical \u03b2-catenin signaling. Somatic mutations in WTX\/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms\u2019 tumor. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a condition usually associated with fetal or perinatal lethality in male patients. Here we address the developmental and molecular function of WTX by generating two novel mouse alleles. We show that in addition to the previously reported skeletal abnormalities, loss of Wtx causes severe midline fusion defects including cleft palate and ectopic synostosis at the base of the skull. By contrast, deletion of the C-terminal part of the protein results in only mild developmental abnormalities permitting survival beyond birth. Adult analysis, however, revealed skeletal defects including changed skull morphology and an increased whole-body bone density, resembling a subgroup of male patients carrying a milder, survivable phenotype. Molecular analysis in vitro showed that while \u03b2-catenin fails to co-immunoprecipitate with the truncated protein, partial recruitment appears to be achieved in an indirect manner using AXIN\/AXIN2 as a molecular bridge. Taken together our analysis provides a novel model for WTX-caused bone diseases and explains on the molecular level how truncation mutations in this gene may retain some of WTX-protein functions. \u00a9 2018 American Society for Bone and Mineral Research.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jbmr.3387","type":"journal-article","created":{"date-parts":[[2018,1,13]],"date-time":"2018-01-13T12:29:52Z","timestamp":1515846592000},"page":"875-887","source":"Crossref","is-referenced-by-count":8,"title":["Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles"],"prefix":"10.1093","volume":"33","author":[{"given":"Glenda","family":"Comai","sequence":"first","affiliation":[{"name":"Current Address: Dept. of Developmental & Stem Cell Biology, Pasteur InstituteCNRS UMR3738ParisFrance"},{"name":"Universit\u00e9 C\u00f4te d'AzurINSERM, CNRSInstitut de Biologie Valrose (iBV)NiceFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agn\u00e8s","family":"Boutet","sequence":"additional","affiliation":[{"name":"Current Address: CNRS, Sorbonne Universit\u00e9, UPMC Univ Paris 6, UMR8227Translation, Cell Cycle and Development Group, Station BiologiqueF-29688 RoscoffFrance"},{"name":"Universit\u00e9 C\u00f4te d'AzurINSERM, CNRSInstitut de Biologie Valrose (iBV)NiceFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Tanneberger","sequence":"additional","affiliation":[{"name":"Friedrich-Alexander Universit\u00e4t Erlangen-NurembergNikolaus Fiebiger ZentrumErlangenGermany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Massa","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d'AzurINSERM, CNRSInstitut de Biologie Valrose (iBV)NiceFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana-Sofia","family":"Rocha","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d'AzurINSERM, CNRSInstitut de Biologie Valrose (iBV)NiceFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurelie","family":"Charlet","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d'AzurINSERM, CNRSInstitut de Biologie Valrose (iBV)NiceFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara","family":"Panzolini","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d'AzurINSERM, CNRSInstitut de Biologie Valrose (iBV)NiceFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fariba","family":"Jian Motamedi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d'AzurINSERM, CNRSInstitut de Biologie Valrose (iBV)NiceFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Brommage","sequence":"additional","affiliation":[{"name":"German Mouse ClinicInstitute of Experimental GeneticsHelmholtz Zentrum M\u00fcnchenGerman Research Center for Environmental HealthNeuherbergGermany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Hans","sequence":"additional","affiliation":[{"name":"German Mouse ClinicInstitute of Experimental GeneticsHelmholtz Zentrum M\u00fcnchenGerman Research Center for Environmental HealthNeuherbergGermany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Funck-Brentano","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris DiderotSorbonne Paris Cit\u00e9ParisFrance"},{"name":"INSERM UMR-1132Biologie de l'os et du cartilage (BIOSCAR)ParisFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Hrabe de Angelis","sequence":"additional","affiliation":[{"name":"German Center for Diabetes Research (DZD)NeuherbergGermany"},{"name":"Experimental GeneticsSchool of Life Science WeihenstephanTechnische Universit\u00e4t M\u00fcnchenFreisingGermany"},{"name":"German Mouse ClinicInstitute of Experimental GeneticsHelmholtz Zentrum M\u00fcnchenGerman Research Center for Environmental HealthNeuherbergGermany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Institute of Musculoskeletal MedicineUniversity Hospital M\u00fcnsterWestf\u00e4lische Wilhelms-Universit\u00e4t (WWU)M\u00fcnsterGermany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Cohen-Solal","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris DiderotSorbonne Paris Cit\u00e9ParisFrance"},{"name":"INSERM UMR-1132Biologie de l'os et du cartilage (BIOSCAR)ParisFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Behrens","sequence":"additional","affiliation":[{"name":"Friedrich-Alexander Universit\u00e4t Erlangen-NurembergNikolaus Fiebiger ZentrumErlangenGermany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Schedl","sequence":"additional","affiliation":[{"name":"Universit\u00e9 C\u00f4te d'AzurINSERM, CNRSInstitut de Biologie Valrose (iBV)NiceFrance"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2018,1,12]]},"reference":[{"issue":"1","key":"2024021014345373300_jbmr3387-bib-0001","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.devcel.2009.06.016","article-title":"Wnt\/beta-catenin signaling: components, mechanisms, and diseases","volume":"17","author":"MacDonald","year":"2009","journal-title":"Dev Cell"},{"issue":"3","key":"2024021014345373300_jbmr3387-bib-0002","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.cell.2006.10.018","article-title":"Wnt\/beta-catenin signaling in development and disease","volume":"127","author":"Clevers","year":"2006","journal-title":"Cell"},{"issue":"7","key":"2024021014345373300_jbmr3387-bib-0003","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1038\/nrm2717","article-title":"Proximal events in Wnt signal transduction","volume":"10","author":"Angers","year":"2009","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"7035","key":"2024021014345373300_jbmr3387-bib-0004","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1038\/nature03319","article-title":"Wnt signalling in stem cells and cancer","volume":"434","author":"Reya","year":"2005","journal-title":"Nature"},{"issue":"2","key":"2024021014345373300_jbmr3387-bib-0005","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1038\/nrc3002","article-title":"Wilms\u2019 tumours: about tumour suppressor genes, an oncogene and a chameleon gene","volume":"11","author":"Huff","year":"2011","journal-title":"Nat Rev Cancer"},{"issue":"5812","key":"2024021014345373300_jbmr3387-bib-0006","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1126\/science.1137509","article-title":"An X chromosome gene, WTX, is commonly inactivated in Wilms tumor","volume":"315","author":"Rivera","year":"2007","journal-title":"Science"},{"issue":"Pt 21","key":"2024021014345373300_jbmr3387-bib-0007","doi-asserted-by":"crossref","first-page":"3738","DOI":"10.1242\/jcs.011320","article-title":"AMER1 regulates the distribution of the tumor suppressor APC between microtubules and the plasma membrane","volume":"120","author":"Grohmann","year":"2007","journal-title":"J Cell Sci"},{"issue":"22","key":"2024021014345373300_jbmr3387-bib-0008","doi-asserted-by":"crossref","first-page":"19204","DOI":"10.1074\/jbc.M111.224881","article-title":"Structural and functional characterization of the Wnt inhibitor APC membrane recruitment 1 (Amer1)","volume":"286","author":"Tanneberger","year":"2011","journal-title":"J Biol Chem"},{"issue":"5827","key":"2024021014345373300_jbmr3387-bib-0009","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1126\/science\/1141515","article-title":"Wilms tumor suppressor WTX negatively regulates WNT\/beta-catenin signaling","volume":"316","author":"Major","year":"2007","journal-title":"Science"},{"issue":"8","key":"2024021014345373300_jbmr3387-bib-0010","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1038\/emboj.2011.28","article-title":"Amer1\/WTX couples Wnt-induced formation of PtdIns(4, 5)P2 to LRP6 phosphorylation","volume":"30","author":"Tanneberger","year":"2011","journal-title":"EMBO.J"},{"key":"2024021014345373300_jbmr3387-bib-0011","doi-asserted-by":"crossref","first-page":"15016","DOI":"10.1038\/celldisc.2015.16","article-title":"Structures of the APC-ARM domain in complexes with discrete Amer1\/WTX fragments reveal that it uses a consensus mode to recognize its binding partners","volume":"1","author":"Zhang","year":"2015","journal-title":"Cell Discov"},{"issue":"20","key":"2024021014345373300_jbmr3387-bib-0012","doi-asserted-by":"crossref","first-page":"8338","DOI":"10.1073\/pnas.0811349106","article-title":"The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity","volume":"106","author":"Rivera","year":"2009","journal-title":"Proc Natl Acad Sci U S.A"},{"issue":"5","key":"2024021014345373300_jbmr3387-bib-0013","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.molcel.2011.12.025","article-title":"The WTX tumor suppressor enhances p53 acetylation by CBP\/p300","volume":"45","author":"Kim","year":"2012","journal-title":"Mol Cell"},{"issue":"1","key":"2024021014345373300_jbmr3387-bib-0014","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/ng.270","article-title":"Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis","volume":"41","author":"Jenkins","year":"2009","journal-title":"Nat Genet"},{"issue":"1","key":"2024021014345373300_jbmr3387-bib-0015","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1359\/jbmr.090707","article-title":"Osteopathia striata with cranial sclerosis owing to WTX gene defect","volume":"25","author":"Perdu","year":"2010","journal-title":"J Bone Miner Res"},{"issue":"2","key":"2024021014345373300_jbmr3387-bib-0016","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/(SICI)1096-8628(19970516)70:2<159::AID-AJMG11>3.0.CO;2-I","article-title":"Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder","volume":"70","author":"Pellegrino","year":"1997","journal-title":"Am J Med Genet"},{"issue":"10","key":"2024021014345373300_jbmr3387-bib-0017","doi-asserted-by":"crossref","first-page":"2397","DOI":"10.1002\/ajmg.a.34178","article-title":"The male phenotype in osteopathia striata congenita with cranial sclerosis","volume":"155A","author":"Holman","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"3","key":"2024021014345373300_jbmr3387-bib-0018","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.tcb.2006.01.001","article-title":"A Wnt canon orchestrating osteoblastogenesis","volume":"16","author":"Hartmann","year":"2006","journal-title":"Trends Cell Biol"},{"issue":"5","key":"2024021014345373300_jbmr3387-bib-0019","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/j.devcel.2011.03.013","article-title":"The WTX tumor suppressor regulates mesenchymal progenitor cell fate specification","volume":"20","author":"Moisan","year":"2011","journal-title":"Dev Cell"},{"issue":"18","key":"2024021014345373300_jbmr3387-bib-0020","doi-asserted-by":"crossref","first-page":"8424","DOI":"10.1073\/pnas.90.18.8424","article-title":"Derivation of completely cell culture-derived mice from early-passage embryonic stem cells","volume":"90","author":"Nagy","year":"1993","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"24","key":"2024021014345373300_jbmr3387-bib-0021","doi-asserted-by":"crossref","first-page":"5080","DOI":"10.1093\/nar\/23.24.5080","article-title":"A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells","volume":"23","author":"Schwenk","year":"1995","journal-title":"Nucleic Acids Res"},{"issue":"1-2","key":"2024021014345373300_jbmr3387-bib-0022","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0925-4773(02)00292-7","article-title":"Efficient gene modulation in mouse epiblast using a Sox2Cre transgenic mouse strain","volume":"2","author":"Hayashi","year":"2002","journal-title":"Gene Expr Patterns"},{"issue":"8","key":"2024021014345373300_jbmr3387-bib-0023","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1242\/dev.128.8.1253","article-title":"Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development","volume":"128","author":"Brault","year":"2001","journal-title":"Development"},{"key":"2024021014345373300_jbmr3387-bib-0024","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1186\/1471-2148-10-280","article-title":"The WTX\/AMER1 gene family: evolution, signature and function","volume":"10","author":"Boutet","year":"2010","journal-title":"BMC Evol Biol"},{"issue":"5363","key":"2024021014345373300_jbmr3387-bib-0025","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1126\/science.280.5363.596","article-title":"Functional interaction of an axin homolog, conductin, with beta-catenin, APC, and GSK3beta","volume":"280","author":"Behrens","year":"1998","journal-title":"Science"},{"issue":"3","key":"2024021014345373300_jbmr3387-bib-0026","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/tera.1420220306","article-title":"Differential staining of cartilage and bone in whole mouse fetuses by Alcian blue and Alizarin red S","volume":"22","author":"McLeod","year":"1980","journal-title":"Teratology"},{"issue":"8","key":"2024021014345373300_jbmr3387-bib-0027","doi-asserted-by":"crossref","first-page":"2266","DOI":"10.1002\/dvdy.22362","article-title":"Mice lacking the orphan receptor ror1 have distinct skeletal abnormalities and are growth retarded","volume":"239","author":"Lyashenko","year":"2010","journal-title":"Dev Dyn"},{"issue":"2","key":"2024021014345373300_jbmr3387-bib-0028","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/jbmr.5650070204","article-title":"New approaches for interpreting projected bone densitometry data","volume":"7","author":"Carter","year":"1992","journal-title":"J Bone Miner Res"},{"issue":"7","key":"2024021014345373300_jbmr3387-bib-0029","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1002\/jbmr.141","article-title":"Guidelines for assessment of bone microstructure in rodents using micro-computed tomography","volume":"25","author":"Bouxsein","year":"2010","journal-title":"J Bone Miner Res"},{"issue":"6","key":"2024021014345373300_jbmr3387-bib-0030","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1002\/dvdy.22313","article-title":"Expression patterns of the Wtx\/Amer gene family during mouse embryonic development","volume":"239","author":"Comai","year":"2010","journal-title":"Dev Dyn"},{"issue":"4","key":"2024021014345373300_jbmr3387-bib-0031","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1083\/jcb.145.4.741","article-title":"Domains of axin involved in protein-protein interactions, Wnt pathway inhibition, and intracellular localization","volume":"145","author":"Fagotto","year":"1999","journal-title":"J Cell Biol"},{"issue":"4","key":"2024021014345373300_jbmr3387-bib-0032","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1111\/j.1399-0004.2010.01553.x","article-title":"Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis","volume":"80","author":"Perdu","year":"2011","journal-title":"Clin Genet"},{"issue":"2","key":"2024021014345373300_jbmr3387-bib-0033","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1242\/dev.067082","article-title":"Palatogenesis: morphogenetic and molecular mechanisms of secondary palate development","volume":"139","author":"Bush","year":"2012","journal-title":"Development"},{"issue":"4","key":"2024021014345373300_jbmr3387-bib-0034","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/ng1295-409","article-title":"Transforming growth factor-beta 3 is required for secondary palate fusion","volume":"11","author":"Proetzel","year":"1995","journal-title":"Nat Genet"},{"issue":"3","key":"2024021014345373300_jbmr3387-bib-0035","doi-asserted-by":"crossref","first-page":"121","DOI":"10.4331\/wjbc.v6.i3.121","article-title":"Molecular basis of cleft palates in mice","volume":"6","author":"Funato","year":"2015","journal-title":"World J Biol Chem"},{"issue":"2","key":"2024021014345373300_jbmr3387-bib-0036","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.ydbio.2010.12.021","article-title":"Epithelial Wnt\/beta-catenin signaling regulates palatal shelf fusion through regulation of Tgfbeta3 expression","volume":"350","author":"He","year":"2011","journal-title":"Dev Biol"},{"issue":"7131","key":"2024021014345373300_jbmr3387-bib-0037","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/nature05557","article-title":"Chemical rescue of cleft palate and midline defects in conditional GSK-3beta mice","volume":"446","author":"Liu","year":"2007","journal-title":"Nature"},{"issue":"12","key":"2024021014345373300_jbmr3387-bib-0038","doi-asserted-by":"crossref","first-page":"3235","DOI":"10.1002\/dvdy.22466","article-title":"Gsk3beta is required in the epithelium for palatal elevation in mice","volume":"239","author":"He","year":"2010","journal-title":"Dev Dyn"},{"issue":"Pt 1","key":"2024021014345373300_jbmr3387-bib-0039","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/bj3590001","article-title":"GSK3 takes centre stage more than 20 years after its discovery","volume":"359","author":"Frame","year":"2001","journal-title":"Biochem J"},{"issue":"1","key":"2024021014345373300_jbmr3387-bib-0040","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.ydbio.2004.08.027","article-title":"Conditional deletion of the TGF-beta type II receptor in Col2a expressing cells results in defects in the axial skeleton without alterations in chondrocyte differentiation or embryonic development of long bones","volume":"276","author":"Baffi","year":"2004","journal-title":"Dev Biol"},{"issue":"1","key":"2024021014345373300_jbmr3387-bib-0041","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1006\/excr.1996.3411","article-title":"BMP7 null mutation in mice: developmental defects in skeleton, kidney, and eye","volume":"230","author":"Jena","year":"1997","journal-title":"Exp Cell Res"},{"issue":"6)","key":"2024021014345373300_jbmr3387-bib-0042","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1371\/journal.pone.0000575","article-title":"Secreted sulfatases Sulf1 and Sulf2 have overlapping yet essential roles in mouse neonatal survival","volume":"2","author":"Holst","year":"2007","journal-title":"PLoS One"},{"issue":"9","key":"2024021014345373300_jbmr3387-bib-0043","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1093\/hmg\/11.9.1129","article-title":"Pallister-Hall syndrome phenotype in mice mutant for Gli3","volume":"11","author":"Bose","year":"2002","journal-title":"Hum Mol Genet"},{"issue":"18","key":"2024021014345373300_jbmr3387-bib-0044","doi-asserted-by":"crossref","first-page":"3283","DOI":"10.1242\/dev.005132","article-title":"Wnt signaling mediates regional specification in the vertebrate face","volume":"134","author":"Brugmann","year":"2007","journal-title":"Development"},{"issue":"2","key":"2024021014345373300_jbmr3387-bib-0045","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.ydbio.2008.07.005","article-title":"Growth of cranial synchondroses and sutures requires polycystin-1","volume":"321","author":"Kolpakova-Hart","year":"2008","journal-title":"Dev Biol"},{"issue":"1","key":"2024021014345373300_jbmr3387-bib-0046","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ydbio.2008.07.016","article-title":"Development and tissue origins of the mammalian cranial base","volume":"322","author":"McBratney-Owen","year":"2008","journal-title":"Dev Biol"},{"issue":"16","key":"2024021014345373300_jbmr3387-bib-0047","doi-asserted-by":"crossref","first-page":"3783","DOI":"10.1242\/dev.129.16.3783","article-title":"The IIIc alternative of Fgfr2 is a positive regulator of bone formation","volume":"129","author":"Eswarakumar","year":"2002","journal-title":"Development"},{"issue":"2","key":"2024021014345373300_jbmr3387-bib-0048","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1083\/jcb.200111080","article-title":"Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability","volume":"156","author":"Dabovic","year":"2002","journal-title":"J Cell Biol"},{"issue":"1","key":"2024021014345373300_jbmr3387-bib-0049","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1677\/joe.0.1750129","article-title":"Bone defects in latent TGF-beta binding protein (Ltbp)-3 null mice; a role for Ltbp in TGF-beta presentation","volume":"175","author":"Dabovic","year":"2002","journal-title":"J Endocrinol"},{"issue":"5","key":"2024021014345373300_jbmr3387-bib-0050","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1097\/00006534-199705000-00030","article-title":"The role of the cranial base in facial growth: experimental craniofacial synostosis in the rabbit","volume":"99","author":"Rosenberg","year":"1997","journal-title":"Plast Reconstr Surg"},{"issue":"2","key":"2024021014345373300_jbmr3387-bib-0051","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/nm.3074","article-title":"WNT signaling in bone homeostasis and disease: from human mutations to treatments","volume":"19","author":"Baron","year":"2013","journal-title":"Nat Med"},{"issue":"1","key":"2024021014345373300_jbmr3387-bib-0052","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.10028","article-title":"Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance","volume":"107","author":"Viot","year":"2002","journal-title":"Am J Med Genet"},{"issue":"3","key":"2024021014345373300_jbmr3387-bib-0053","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/ajmg.a.20178","article-title":"Comments on \u201costeopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance\u201c","volume":"119A","author":"Kraus","year":"2003","journal-title":"Am J Med Genet A"},{"issue":"5","key":"2024021014345373300_jbmr3387-bib-0054","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1111\/j.1468-3083.2010.03782.x","article-title":"Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion","volume":"25","author":"Vreeburg","year":"2011","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"1","key":"2024021014345373300_jbmr3387-bib-0055","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.gene.2011.10.044","article-title":"Update on Wnt signaling in bone cell biology and bone disease","volume":"492","author":"Monroe","year":"2012","journal-title":"Gene"},{"issue":"Pt 7","key":"2024021014345373300_jbmr3387-bib-0056","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1242\/jcs.063032","article-title":"Bone remodelling at a glance","volume":"124","author":"Crockett","year":"2011","journal-title":"J Cell Sci"},{"issue":"8","key":"2024021014345373300_jbmr3387-bib-0057","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1359\/jbmr.070507","article-title":"Age-related changes in trabecular architecture differ in female and male C57BL\/6J mice","volume":"22","author":"Glatt","year":"2007","journal-title":"J Bone Miner Res"},{"key":"2024021014345373300_jbmr3387-bib-0058","doi-asserted-by":"crossref","first-page":"391097","DOI":"10.1155\/2012\/391097","article-title":"Genetic background strongly influences the bone phenotype of P2 \u00d7 7 receptor knockout mice","volume":"2012","author":"Syberg","year":"2012","journal-title":"J Osteoporos"},{"issue":"34","key":"2024021014345373300_jbmr3387-bib-0059","doi-asserted-by":"crossref","first-page":"14432","DOI":"10.1073\/pnas.0905840106","article-title":"Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins","volume":"106","author":"Vanhoutteghem","year":"2009","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjbmr.3387","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/33\/5\/875\/56653454\/jbmr3387.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/33\/5\/875\/56653454\/jbmr3387.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,30]],"date-time":"2024-06-30T13:36:17Z","timestamp":1719754577000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/33\/5\/875-887\/7605721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,12]]},"references-count":59,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2018,1,12]]},"published-print":{"date-parts":[[2018,5,1]]}},"URL":"https:\/\/doi.org\/10.1002\/jbmr.3387","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,5,1]]},"published":{"date-parts":[[2018,1,12]]}}}