<em>Cbfa1</em>, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

Otto, Florian<sup>1,2</sup>; Thornell, Anders P.<sup>1,3</sup>; Crompton, Tessa<sup>1</sup>; Denzel, Angela<sup>1</sup>; Gilmour, Kimberly C.<sup>1</sup>; Rosewell, Ian R.<sup>1</sup>; Stamp, Gordon W.H<sup>4</sup>; Beddington, Rosa S.P<sup>5</sup>; Mundlos, Stefan<sup>6,7</sup>; Olsen, Bjorn R.<sup>6</sup>; Selby, Paul B.<sup>8</sup>; Owen, Michael J.<sup>1</sup>

Year	Entry
2013	Hum JM. Signaling Mechanisms That Suppress the Anabolic Response of Osteoblasts and Osteocytes to Fluid Shear Stress [PhD thesis]. Bloomington, IN: Indiana University; September 2013.
2006	Robling AG, Castillo AB, Turner CH. Biomechanical and molecular regulation of bone remodeling. Annu Rev Biomed Eng. 2006;8:455-498.
2020	Nakamichi R, Kurimoto R, Tabata Y, Asahara H. Transcriptional, epigenetic and microRNA regulation of growth plate. Bone. August 2020;137:115434.
2020	Cuellar A, Bala K, Di Pietro L, Barba M, Yagnik G, Liu JL, Stevens C, Hur DJ, Ingersoll RG, Justice CM, Drissi H, Kim J, Lattanzi W, Boyadjiev SA. Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis. Bone. August 2020;137:115395.
2020	Dash S, Trainor PA. The development, patterning and evolution of neural crest cell differentiation into cartilage and bone. Bone. August 2020;137:115409.
2020	Hojo H, Ohba S. Gene regulatory landscape in osteoblast differentiation. Bone. August 2020;137:115458.
2020	Ooki A, Onodera S, Saito A, Oguchi A, Murakawa Y, Sakamoto T, Sueishi K, Nishii Y, Azuma T. CAGE-seq analysis of osteoblast derived from cleidocranial dysplasia human induced pluripotent stem cells. Bone. December 2020;141:115582.
2021	Wang JS, Yoon S-H, Wein MN. Role of histone deacetylases in bone development and skeletal disorders. Bone. February 2021;143:115606.
2021	Nieminen-Pihala V, Tarkkonen K, Laine J, Rummukainen P, Saastamoinen L, Nagano K, Baron R, Kiviranta R. Early B-cell factor1 (Ebf1) promotes early osteoblast differentiation but suppresses osteoblast function. Bone. May 2021;146:115884.
2021	Papadopoulou A, Bountouvi E, Sideri V, Moutsatsou P, Skarakis NS, Doulgeraki A, Karachaliou FE. Parietal aplasia and hypophosphatasia in a child harboring a novel mutation in RUNX2 and a likely pathogenic variant in TNSALP. Bone. May 2021;146:115904.
2023	Hendrickx G, Boudin E, Steenackers E, Collet C, Mortier GR, Geneviève D, Van Hul W. A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix. Bone. February 2023;167:116633.
2023	O'Donohue AK, Xiao Y, Lee LR, Schofield T, Cheng TL, Munns CF, Baldock PA, Schindeler A. Targeted postnatal knockout of Sclerostin using a bone-targeted adeno-associated viral vector increases bone anabolism and decreases canalicular density. Bone. February 2023;167:116636.
2023	Grčević D, Sanjay A, Lorenzo J. Interactions of B-lymphocytes and bone cells in health and disease. Bone. March 2023;168:116296.
2020	Moore AC, Wu J, Jewlal E, Barr K, Laird DW, Willmore KE. Effects of reduced connexin43 function on mandibular morphology and osteogenesis in mutant mouse models of oculodentodigital dysplasia. Calcif Tiss Int. December 2020;107(6):611-624.
1997	Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsent G. Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell. May 30, 1997;89(5):747-754.
2002	Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, Behringer RR, de Crombrugghe B. The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell. January 11, 2002;108(1):17-29.
2014	Zhou BO, Yue R, Murphy MM, Peyer JG, Morrison SJ. Leptin-receptor-expressing mesenchymal stromal cells represent the main source of bone formed by adult bone marrow. Cell Stem Cell. August 7, 2014;15(2):154-168.
2002	Karsenty G, Wagner EF. Reaching a genetic and molecular understanding of skeletal development. Dev Cell. April 2002;2(4):389-406.
2005	Hill TP, Später D, Taketo MM, Birchmeier W, Hartmann C. Canonical Wnt/β-catenin signaling prevents osteoblasts from differentiating into chondrocytes. Dev Cell. May 2005;8(5):727-738.
2005	Day TF, Guo X, Garrett-Beal L, Yang Y. Wnt/β-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis. Dev Cell. May 2005;8(5):739-750.
2010	Maes C, Kobayashi T, Selig MK, Torrekens S, Roth SI, Mackem S, Carmeliet G, Kronenberg HM. Osteoblast precursors, but not mature osteoblasts, move into developing and fractured bones along with invading blood vessels. Dev Cell. August 17, 2010;19(2):329-344.
2006	Franz-Odendaal TA, Hall BK, Witten PE. Buried alive: how osteoblasts become osteocytes. Dev Dyn. January 2006;235(1):176-190.
2006	Rodda SJ, McMahon AP. Distinct roles for Hedgehog and canonical Wnt signaling in specification, differentiation and maintenance of osteoblast progenitors. Development. August 15, 2006;133(16):3231-3244.
2018	Kegelman CD, Mason DE, Dawahare JH, Horan DJ, Vigil GD, Howard SS, Robling AG, Bellido TM, Boerckel JD. Skeletal cell YAP and TAZ combinatorially promote bone development. FASEB J. May 2018;32(5):2706-2721.
1999	St-Jacques B, Hammerschmidt M, McMahon AP. Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. Genes Dev. August 15, 1999;13(16):2072-2086.
2002	Akiyama H, Chaboissier M-C, Martin JF, Schedl A, de Crombrugghe B. The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6. Genes Dev. November 1, 2002;16(21):2813-2828.
2010	Raggatt LJ, Partridge NC. Cellular and molecular mechanisms of bone remodeling. J Biol Chem. August 13, 2010;285(33):25103-25108.
2020	Zhu H, Swami S, Yang P, Shapiro F, Wu JY. Direct reprogramming of mouse fibroblasts into functional osteoblasts. J Bone Miner Res. April 2020;35(4):698-713.
2023	Huang AH, Galloway JL. Current and emerging technologies for defining and validating tendon cell fate. J Orthop Res. October 2023;41(10):2082-2092.
1998	Turner CH, Pavalko FM. Mechanotransduction and functional response of the skeleton to physical stress: the mechanisms and mechanics of bone adaptation. J Orthop Sci. November 1998;3(6):346-355.
1999	Ferguson C, Alpern E, Miclau T, Helms JA. Does adult fracture repair recapitulate embryonic skeletal formation? Mech Dev. September 1999;87(1-2):57-66.
2012	Long F. Building strong bones: molecular regulation of the osteoblast lineage. Nat Rev Mol Cell Biol. January 2012;13(1):27-38.
2003	Kronenberg HM. Developmental regulation of the growth plate. Nature. May 15, 2003;423(6937):332-336.
2003	Harada S-i, Rodan GA. Control of osteoblast function and regulation of bone mass. Nature. May 15, 2003;423(6937):349-355.
2004	Roodman GD. Mechanisms of bone metastasis. NEJM. April 15, 2004;350(16):1655-1664.
2014	Zhou X, von der Mark K, Henry S, Norton W, Adams H, de Crombrugghe B. Chondrocytes transdifferentiate into osteoblasts in endochondral bone during development, postnatal growth and fracture healing in mice. PLoS Genet. December 2014;10(12):e1004820.
2020	Qin X, Jiang Q, Nagano K, Moriishi T, Miyazaki T, Komori H, Ito K, von der Mark K, Sakane C, Kaneko H, Komori T. Runx2 is essential for the transdifferentiation of chondrocytes into osteoblasts. PLoS Genet. November 2020;16(11):e1009169.
2014	Yang L, Tsang KY, Tang HC, Chan D, Cheah KSE. Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation. Proc Natl Acad Sci USA. August 19, 2014;111(33):12097-12102.
2004	Pearson OM, Lieberman DE. The aging of Wolff's "law": ontogeny and responses to mechanical loading in cortical bone. Yearb Phys Anthropol. 2004;47:63-99.
2017	Younesi M. Biofabrication of Collageneous Constructs Via Electrochemical Compaction Process for Musculoskeletal Tissue Engineering [PhD thesis]. Cleveland, OH: Case Western Reserve University; 2017.
2014	Bruderer MS. Transcription Factor-Specific Reporter Constructs: Basis for the Functional Identification and Isolation of Subpopulations of Human Mesenchymal Stem Cells and Tool for Live Cell Approaches [PhD thesis]. Swiss Federal Institute of Technology Zürich; 2014.
2013	Byers BA. In Vitro and in Vivo Characterization of a Cell Source for Bone Tissue Engineering Applications: Primary Bone Marrow Stromal Cells Overexpressing the Osteoblast-Specific Transcriptional Activator Runx2/Cbfa1 [PhD thesis]. Atlanta, GA: Georgia Institute of Technology; December 2013.
2007	Phillips JE. Runx2-Genetically Engineered Dermal Fibroblasts for Orthopaedic Tissue Repair [PhD thesis]. Atlanta, GA: Georgia Institute of Technology; December 2007.
2009	Wojtowicz AM. Genetically-Engineered Bone Marrow Stromal Cells and Collagen Mimetic Scaffold Modification for Healing Critically-Sized Bone Defects [PhD thesis]. Atlanta, GA: Georgia Institute of Technology; August 2009.
2011	Linares GR. Novel Molecules That Regulate Bone Formation and Bone Resorption [PhD thesis]. Loma Linda University; June 2011.
2014	Alshbool FZ. The Role of Claudins in Bone Metabolism [PhD thesis]. Loma Linda University; December 2014.
2014	Babbar A. Retinoic Acid Regulation of Thyroid Hormone Action in Bone Cells [Master's thesis]. Loma Linda University; March 2014.
2019	Lindsey RC. Signaling Pathways in Skeletal Development and Metabolism [PhD thesis]. Loma Linda University; May 2019.
2003	Chan GK. Delineation of Regulatory Factors and Mechanisms That Govern the Differentiation of Mesenchymal Cells to the Osteoblastic Lineage [PhD thesis]. McGill University; June 2003.
2003	Duque G. Molecular Changes in the Aging Osteoblast [PhD thesis]. McGill University; March 2003.
2009	Landman AS. Pocket Protein Family Function in Mesenchymal Tissue Development and Tumorigenesis [PhD thesis]. Cambridge, MA: Massachusetts Institute of Technology; September 2009.
2009	Miller ES. The Role of E2f4 in Cell Cycle Exit and Bone Development [PhD thesis]. Cambridge, MA: Massachusetts Institute of Technology; June 2009.
2015	Coughlin TR. Mechanobiological Signals in Trabecular Bone and Marrow [PhD thesis]. University of Notre Dame; July 2015.
2020	Music E. Optimisation of Methods for Driving Chondrogenesis of Human and Ovine Bone Marrow–derived Stromal Cells [PhD thesis]. Queensland University of Technology; 2020.
2019	Maynard RD. Establishing the Functional Role of Cped1* in the Genetic Regulation of the Osteoblast* [PhD thesis]. University of Rochester; 2019.
2022	Tice MJL. Loss and Modulation of Bone Matrix and Fragility During Diabetes Mellitus [PhD thesis]. Troy, NY: Rensselaer Polytechnic Institute; May 2022.
2008	Arnsdorf EJ. Guiding Osteogenic Lineage Commitment: The Role of Mesenchymal Stem Cell Biology and the Mechanical Microenvironment [PhD thesis]. Stanford University; September 2008.
2009	Litzenberger JB. The Role of Integrin Signaling in Bone Mechanotransduction [PhD thesis]. Stanford University; 2009.
2005	Squire ME. Bone’s Response to Unloading, as Defined by Altered Gene Expression, Cellular Activity, and Architecture, is Modulated by Genetics and Gender [PhD thesis]. Stony Brook, NY: Stony Brook University; August 2005.
2018	Tang KC-C. Role of FoxO3a in Osteoblast Differentiation and Matrix Calcification [PhD thesis]. Edmonton, AB: University of Alberta; 2018.
2011	Chen CG. TGF-Β/Smad3 Regulation of Bone, Cartilage, and Tendon Matrix Composition and Material Properties [PhD thesis]. San Francisco, University of California; 2011.
2012	Statman LY. Mechanosensitive Β-Catenin Signaling Modulates Mesenchymal Stem Cell Chondrogenesis [PhD thesis]. San Francisco, University of California; 2012.
2017	Nguyen J. TGFΒ Signaling in Load-Induced Bone Formation [PhD thesis]. San Francisco, University of California; 2017.
2011	Majumdar S. Cell Surface ATP Synthase: A Novel Mechanism for ATP Signaling in Osteoblasts [PhD thesis]. University of Delaware; Summer 2011.
2018	Wu B. Development of Self-Regulatory Gene Circuits for Cartilage Tissue Engineering [PhD thesis]. University of Michigan; 2018.
2007	Wu Y-L. Interaction of Bone Cells With Biomimetic Hydroxyapatite Gelatin Nanocomposites Towards Developing Bone Tissue Engineering [PhD thesis]. University of Minnesota; December 2007.
2016	Takyar F. Osteoblastic EphrinB2 in Normal and Parathyroid Hormone (PTH)-Stimulated Bone Formation [PhD thesis]. University of Melbourne; June 2016.
2016	Vrahna C. Investigating the Effects of Downstream Parathyroid Hormone (PTH) Targets on Bone Strength and Quality [PhD thesis]. Melbourne, Australia: The University of Melbourne; December 2016.
2022	Blank MA. Defining Mechanisms by Which EphrinB2 in Osteocytes Controls Bone Strength and Material Quality [PhD thesis]. University of Melbourne; September 2022.
2022	Nandi S. HRAS GTPase, a Novel Regulator of Bone Homeostasis: Understanding the Cellular Base of Bone Loss in Costello Syndrome [PhD thesis]. University of Ulm; 2022.
2020	Kegelman CD. Combinatorial Roles of Skeletal Cell YAP and TAZ in Bone Growth, Remodeling, and Repair [PhD thesis]. Philadelphia, PA: University of Pennsylvania; 2020.
2018	Zhang L. Effects of Osteoblast-Specific Gα_S Overexpression on Skeletal Development and Response to Catabolic and Anabolic Stimuli Using a Transgenic Mouse Model [PhD thesis]. University of Toronto; 2018.
2019	Xie WX. Insights Into Fracture Repair Using a Murine Model of Osteofibrous Dysplasia [Master's thesis]. Toronto, ON: University of Toronto; 2019.