Genomes and Genes
Gene Symbol: Acan
Alias: Agc, Agc1, CSPCP, Cspg1, b2b183Clo, cmd, aggrecan core protein, aggrecan 1, cartilage-specific proteoglycan core protein
- Aszodi A, Chan D, Hunziker E, Bateman J, Fassler R. Collagen II is essential for the removal of the notochord and the formation of intervertebral discs. J Cell Biol. 1998;143:1399-412 pubmed
- Savontaus M, Metsaranta M, Vuorio E. Mutation in type II collagen gene disturbs spinal development and gene expression patterns in transgenic Del1 mice. Lab Invest. 1997;77:591-600 pubmed..Many of these findings parallel those seen in human chondrodysplasias and help us to understand the pathogenetic mechanisms involved in these developmental abnormalities. ..
- Smits P, Lefebvre V. Sox5 and Sox6 are required for notochord extracellular matrix sheath formation, notochord cell survival and development of the nucleus pulposus of intervertebral discs. Development. 2003;130:1135-48 pubmed..Through these roles and essential roles in cartilage formation, they are central transcriptional regulators of vertebral column development. ..
- Giamanco K, Morawski M, Matthews R. Perineuronal net formation and structure in aggrecan knockout mice. Neuroscience. 2010;170:1314-27 pubmed publisher..In order to assess the contribution of aggrecan to PNN formation, we utilized cartilage matrix deficiency (cmd) mice, which lack aggrecan...
- Saito A, Hino S, Murakami T, Kanemoto S, Kondo S, Saitoh M, et al. Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis. Nat Cell Biol. 2009;11:1197-204 pubmed publisher..Our findings provide a new link by which ER stress is converted to signalling for the activation of ER-to-Golgi trafficking. ..
- Inada M, Yasui T, Nomura S, Miyake S, Deguchi K, Himeno M, et al. Maturational disturbance of chondrocytes in Cbfa1-deficient mice. Dev Dyn. 1999;214:279-90 pubmed..These findings demonstrate that Cbfa1 is an important factor for chondrocyte differentiation. ..
- Rhee D, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, et al. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005;115:622-31 pubmed..We conclude that lubricin has multiple functions in articulating joints and tendons that include the protection of surfaces and the control of synovial cell growth. ..
- Patra D, Xing X, Davies S, Bryan J, Franz C, Hunziker E, et al. Site-1 protease is essential for endochondral bone formation in mice. J Cell Biol. 2007;179:687-700 pubmed..These data suggest that S1P activity is necessary for a specialized ER stress response required by chondrocytes for the genesis of normal cartilage and thus endochondral ossification. ..
- Yamaguchi Y. Lecticans: organizers of the brain extracellular matrix. Cell Mol Life Sci. 2000;57:276-89 pubmed..We propose that the hyaluronan-lectican-tenascin-R complex constitutes the core assembly of the adult brain extracellular matrix, which is found mainly in pericellular spaces of neurons as 'perineuronal nets'. ..
- Bekku Y, Su W, Hirakawa S, Fassler R, Ohtsuka A, Kang J, et al. Molecular cloning of Bral2, a novel brain-specific link protein, and immunohistochemical colocalization with brevican in perineuronal nets. Mol Cell Neurosci. 2003;24:148-59 pubmed..Our results suggest that Bral2 is involved in the formation of extracellular matrix contributing to perineuronal nets and facilitate the understanding of a functional role of these extracellular matrices. ..
- Henry S, Jang C, Deng J, Zhang Z, Behringer R, de Crombrugghe B. Generation of aggrecan-CreERT2 knockin mice for inducible Cre activity in adult cartilage. Genesis. 2009;47:805-14 pubmed publisher..inducible Cre recombinase construct, CreERT2, in the 3' untranslated region of the endogenous mouse aggrecan gene (Agc1(tm(IRES-creERT2)))...
- Smits P, Li P, Mandel J, Zhang Z, Deng J, Behringer R, et al. The transcription factors L-Sox5 and Sox6 are essential for cartilage formation. Dev Cell. 2001;1:277-90 pubmed..L-Sox5 and Sox6 are thus redundant, potent enhancers of chondroblast functions, thereby essential for endochondral skeleton formation. ..
- Wang L, Bresee C, Jiang H, He W, Ren T, Schweitzer R, et al. Scleraxis is required for differentiation of the stapedius and tensor tympani tendons of the middle ear. J Assoc Res Otolaryngol. 2011;12:407-21 pubmed publisher..Scx-null is the first genetically defined mouse model for abnormal middle ear tendon differentiation. Scx mouse models will facilitate studies of tendon and muscle formation and function in the middle ear...
- Watanabe H, Yamada Y, Kimata K. Roles of aggrecan, a large chondroitin sulfate proteoglycan, in cartilage structure and function. J Biochem. 1998;124:687-93 pubmed..Two autosomal recessive chondrodysplasias, cartilage matrix deficiency (cmd) in mice and nanomelia in chicken are both caused by aggrecan gene mutations...
- Hill A, Durán J, Purcell P. Lubricin protects the temporomandibular joint surfaces from degeneration. PLoS ONE. 2014;9:e106497 pubmed publisher..Our results provide the first molecular evidence of the role of lubricin in the TMJ and suggest that Prg4-/- mice might provide a valuable new animal model for the study of the early events of TMJ osteoarthritis. ..
- Akazawa H, Komuro I, Sugitani Y, Yazaki Y, Nagai R, Noda T. Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation. Genes Cells. 2000;5:499-513 pubmed..Our analysis provided evidence that Bapx1 was indispensable for normal development of ventromedial structure of vertebral column and some of craniofacial bones, splenogenesis and morphogenesis of gastroduodenal tract. ..
- Sato T, Kudo T, Ikehara Y, Ogawa H, Hirano T, Kiyohara K, et al. Chondroitin sulfate N-acetylgalactosaminyltransferase 1 is necessary for normal endochondral ossification and aggrecan metabolism. J Biol Chem. 2011;286:5803-12 pubmed publisher..Western blot analysis demonstrated an increase in processed forms of aggrecan core protein. These results suggest that CSGalNAcT-1 is required for normal levels of CS biosynthesis in cartilage...
- Chester N, Kuo F, Kozak C, O Hara C, Leder P. Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. Genes Dev. 1998;12:3382-93 pubmed..Both the apoptotic wave and the appearance of micronuclei in red blood cells are likely cellular consequences of damaged DNA caused by effects on replicating or segregating chromosomes. ..
- Walcz E, Deak F, Erhardt P, Coulter S, Fulop C, Horvath P, et al. Complete coding sequence, deduced primary structure, chromosomal localization, and structural analysis of murine aggrecan. Genomics. 1994;22:364-71 pubmed..Epidermal growth factor (EGF)-like module was detected in only a minor fraction of aggrecan clones, while the complement regulatory protein (CRP)-like domain was regularly expressed in all samples. ..
- Puttaparthi K, Wojcik C, Rajendran B, Demartino G, Elliott J. Aggregate formation in the spinal cord of mutant SOD1 transgenic mice is reversible and mediated by proteasomes. J Neurochem. 2003;87:851-60 pubmed..Our results also establish that adult mouse spinal cord exhibits a relative deficiency in proteasome activity compared with non-CNS tissue that may help explain the propensity of spinal cord to form SOD1-positive aggregates. ..
- Costell M, Gustafsson E, Aszodi A, Morgelin M, Bloch W, Hunziker E, et al. Perlecan maintains the integrity of cartilage and some basement membranes. J Cell Biol. 1999;147:1109-22 pubmed
- Han Y, Lefebvre V. L-Sox5 and Sox6 drive expression of the aggrecan gene in cartilage by securing binding of Sox9 to a far-upstream enhancer. Mol Cell Biol. 2008;28:4999-5013 pubmed publisher..We identify here a highly conserved 359-bp sequence 10 kb upstream of the Agc1 gene for aggrecan, a most essential cartilage proteoglycan and key marker of chondrocyte differentiation...
- Maeda K, Enomoto A, Hara A, Asai N, Kobayashi T, Horinouchi A, et al. Identification of Meflin as a Potential Marker for Mesenchymal Stromal Cells. Sci Rep. 2016;6:22288 pubmed publisher..These preliminary data suggest that Meflin is a potential marker for cultured MSCs and their source cells in vivo. ..
- Lee N, Rodriguez Manzaneque J, Thai S, Twal W, Luque A, Lyons K, et al. Fibulin-1 acts as a cofactor for the matrix metalloprotease ADAMTS-1. J Biol Chem. 2005;280:34796-804 pubmed..Together, these findings indicate that fibulin-1 is a new regulator of ADAMTS-1-mediated proteoglycan proteolysis and thus may play an important role in proteoglycan turnover in tissues where there is overlapping expression. ..
- Mizuhashi K, Kanamoto T, Moriishi T, Muranishi Y, Miyazaki T, Terada K, et al. Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the formation of cartilaginous skeletal elements. Hum Mol Genet. 2014;23:2953-67 pubmed publisher..These results suggest that Cfms are essential partner molecules of Flnb in regulating differentiation and proliferation of chondryocytes and actin dynamics. ..
- Choocheep K, Hatano S, Takagi H, Watanabe H, Kimata K, Kongtawelert P, et al. Versican facilitates chondrocyte differentiation and regulates joint morphogenesis. J Biol Chem. 2010;285:21114-25 pubmed publisher..These results suggest that versican facilitates chondrogenesis and joint morphogenesis, by localizing TGF-beta in the extracellular matrix and regulating its signaling. ..
- Hata K, Takashima R, Amano K, Ono K, Nakanishi M, Yoshida M, et al. Arid5b facilitates chondrogenesis by recruiting the histone demethylase Phf2 to Sox9-regulated genes. Nat Commun. 2013;4:2850 pubmed publisher..Our findings establish an epigenomic mechanism of skeletal development, whereby Arid5b promotes chondrogenesis by facilitating Phf2-mediated histone demethylation of Sox9-regulated chondrogenic gene promoters. ..
- Cameron T, Belluoccio D, Farlie P, Brachvogel B, Bateman J. Global comparative transcriptome analysis of cartilage formation in vivo. BMC Dev Biol. 2009;9:20 pubmed publisher..Differential expression was validated by quantitative PCR for Agc1, Bmp8a, Col2a1, Fgfr4, Foxa3, Gdf5, Klf2, Klf4, Lepre1, Ncad, Sox11, and Trpv4...
- Yoon B, Ovchinnikov D, Yoshii I, Mishina Y, Behringer R, Lyons K. Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo. Proc Natl Acad Sci U S A. 2005;102:5062-7 pubmed..In summary, our study demonstrates that BMPR1A and BMPR1B are functionally redundant during early chondrogenesis and that BMP signaling is required for chondrocyte proliferation, survival, and differentiation in vivo. ..
- Bobick B, Cobb J. Shox2 regulates progression through chondrogenesis in the mouse proximal limb. J Cell Sci. 2012;125:6071-83 pubmed publisher..Thus, we provide evidence that Shox2 regulates progression through chondrogenesis at two distinct stages--the onset of early differentiation and the transition to maturation and hypertrophy. ..
- Wang V, Bell R, Thakore R, Eyre D, Galante J, Li J, et al. Murine tendon function is adversely affected by aggrecan accumulation due to the knockout of ADAMTS5. J Orthop Res. 2012;30:620-6 pubmed publisher..Hence, the role of ADAMTS5 in tendon is to remove pericellular and interfibrillar aggrecan to maintain the molecular architecture responsible for normal tissue function. ..
- Hikake T, Mori T, Iseki K, Hagino S, Zhang Y, Takagi H, et al. Comparison of expression patterns between CREB family transcription factor OASIS and proteoglycan core protein genes during murine tooth development. Anat Embryol (Berl). 2003;206:373-80 pubmed..These results suggest that the OASIS gene might be related to proteoglycan expression and may play an important role in the differentiation of the odontoblast and cells in inner enamel epithelium. ..
- Mailhiot S, Zignego D, Prigge J, Wardwell E, Schmidt E, JUNE R. Non-Invasive Quantification of Cartilage Using a Novel In Vivo Bioluminescent Reporter Mouse. PLoS ONE. 2015;10:e0130564 pubmed publisher..Future studies may use this reporter mouse to advance basic and preclinical studies of murine experimental OA with applications in synovial joint biology, disease pathogenesis, and drug delivery. ..
- Liu W, Li L, Li G, Garritano F, Shanske A, Frenz D. Coordinated molecular control of otic capsule differentiation: functional role of Wnt5a signaling and opposition by sfrp3 activity. Growth Factors. 2008;26:343-54 pubmed publisher..Our findings support Wnt5a and sfrp3 as regulators of otic capsule formation in the developing mouse inner ear. ..
- Seegmiller R, Brown K, Chandrasekhar S. Histochemical, immunofluorescence, and ultrastructural differences in fetal cartilage among three genetically distinct chondrodystrophic mice. Teratology. 1988;38:579-92 pubmed..chondrodysplasia (cho), cartilage matrix deficiency (cmd), and disproportionate micromelia (Dmm), which share this syndrome, were performed with the aim of identifying ..
- Houghton M, Carey J, Seegmiller R. Pulmonary hypoplasia in mice homozygous for the cartilage matrix deficiency (cmd) gene: a model for human congenital disorder. Pediatr Pathol. 1989;9:501-12 pubmed..in the lethal chondrodystrophies in man, lungs of day 18 mouse fetuses homozygous for cartilage matrix deficiency (cmd) were studied by biochemical, histological, and morphometric techniques...
- Kwon O, Adamson M, Chin H, Kozak C. Genetic mapping of five mouse genes encoding synaptotagmins. Mamm Genome. 1995;6:880-1 pubmed
- Tamamura Y, Otani T, Kanatani N, Koyama E, Kitagaki J, Komori T, et al. Developmental regulation of Wnt/beta-catenin signals is required for growth plate assembly, cartilage integrity, and endochondral ossification. J Biol Chem. 2005;280:19185-95 pubmed
- Mátés L, Nicolae C, Morgelin M, Deak F, Kiss I, Aszodi A. Mice lacking the extracellular matrix adaptor protein matrilin-2 develop without obvious abnormalities. Matrix Biol. 2004;23:195-204 pubmed
- Zhang Y, Sheu T, Hoak D, Shen J, Hilton M, Zuscik M, et al. CCN1 Regulates Chondrocyte Maturation and Cartilage Development. J Bone Miner Res. 2016;31:549-59 pubmed publisher..Collectively, our data suggest that CCN1 is an important regulator of chondrocyte maturation during cartilage development and homeostasis. ..
- Brooks J, Su J, Levy C, Wang J, Seabrook T, Guido W, et al. A molecular mechanism regulating the timing of corticogeniculate innervation. Cell Rep. 2013;5:573-81 pubmed publisher..Taken together, these studies reveal a molecular mechanism through which one class of axons coordinates the temporal targeting of another class of axons. ..
- Dwyer C, Baker E, Hu H, Matthews R. RPTP?/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. Neuroscience. 2012;220:47-61 pubmed publisher..several labs indicated that other proteins in the brain are also O-mannosylated and therefore could contribute to CMD pathology in patients with mutations in the protein O-mannosylation pathway, however few of these proteins have ..
- Fulop C, Walcz E, Valyon M, Glant T. Expression of alternatively spliced epidermal growth factor-like domains in aggrecans of different species. Evidence for a novel module. J Biol Chem. 1993;268:17377-83 pubmed..Although the function of these domains is not understood, the uniform expression of the EGF2 domain may indicate a general role of this aggrecan module, while the expression of the EGF1 domain may reflect species specificity. ..
- Shibata S, Fukada K, Imai H, Abe T, Yamashita Y. In situ hybridization and immunohistochemistry of versican, aggrecan and link protein, and histochemistry of hyaluronan in the developing mouse limb bud cartilage. J Anat. 2003;203:425-32 pubmed..In particular, only a link protein-positive region was present in the marginal area of the metaphysis and the epiphysis at this stage. This finding may indicate a novel role for link protein. ..
- Rutkowski T, Kohn A, Sharma D, Ren Y, Mirando A, Hilton M. HES factors regulate specific aspects of chondrogenesis and chondrocyte hypertrophy during cartilage development. J Cell Sci. 2016;129:2145-55 pubmed publisher..This work identifies important candidates that might function as downstream mediators of Notch signaling both during normal skeletal development and in Notch-related skeletal disorders. ..
- Liu Z, Li W, Ma X, Ding N, Spallotta F, Southon E, et al. Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development. J Biol Chem. 2014;289:29801-16 pubmed publisher..This suggests that CASZ1 is a novel 1p36 CHD gene and that the abnormal expression of cardiac morphogenesis and contraction genes induced by loss of Casz1 contributes to the heart defect. ..
- Matsumoto K, Li Y, Jakuba C, Sugiyama Y, Sayo T, Okuno M, et al. Conditional inactivation of Has2 reveals a crucial role for hyaluronan in skeletal growth, patterning, chondrocyte maturation and joint formation in the developing limb. Development. 2009;136:2825-35 pubmed publisher..Taken together, our results demonstrate that HA has a crucial role in skeletal growth, patterning, chondrocyte maturation and synovial joint formation in the developing limb. ..
- Barrionuevo F, Taketo M, Scherer G, Kispert A. Sox9 is required for notochord maintenance in mice. Dev Biol. 2006;295:128-40 pubmed..Thus, Sox9 is required for axial skeletogenesis by regulating notochord survival and chondrogenesis. ..
- Inoue H, Hiraoka K, Hoshino T, Okamoto M, Iwanaga T, Zenmyo M, et al. High levels of serum IL-18 promote cartilage loss through suppression of aggrecan synthesis. Bone. 2008;42:1102-10 pubmed publisher..Thus IL-18 may play an important role in the pathogenesis of articular cartilage loss in osteoarthritis. ..
- Rashid H, Chen H, Hassan Q, Javed A. Dwarfism in homozygous Agc1CreERT mice is associated with decreased expression of aggrecan. Genesis. 2017;55: pubmed publisherAggrecan (Acan), a large proteoglycan is abundantly expressed in cartilage tissue. Disruption of Acan gene causes dwarfism and perinatal lethality of homozygous mice...
- Amarilio R, Viukov S, Sharir A, Eshkar Oren I, Johnson R, Zelzer E. HIF1alpha regulation of Sox9 is necessary to maintain differentiation of hypoxic prechondrogenic cells during early skeletogenesis. Development. 2007;134:3917-28 pubmed..This work establishes for the first time HIF1alpha as a key component in the genetic program that regulates chondrogenesis by regulating Sox9 expression in hypoxic prechondrogenic cells. ..
- Aspberg A, Adam S, Kostka G, Timpl R, Heinegard D. Fibulin-1 is a ligand for the C-type lectin domains of aggrecan and versican. J Biol Chem. 1999;274:20444-9 pubmed..No difference in affinity was found for deglycosylated fibulin-1, indicating that the proteoglycan C-type lectin domains bind to the protein part of fibulin-1. ..
- Liu Y, Watanabe H, Nifuji A, Yamada Y, Olson E, Noda M. Overexpression of a single helix-loop-helix-type transcription factor, scleraxis, enhances aggrecan gene expression in osteoblastic osteosarcoma ROS17/2.8 cells. J Biol Chem. 1997;272:29880-5 pubmed..These results indicate that overexpression of a single helix-loop-helix-type transcription factor, scleraxis, enhances aggrecan gene expression via binding to the E-box-containing AgE sequence in ROS17/2.8 cells. ..
- Kitazawa T, Takechi M, Hirasawa T, Adachi N, Narboux NÃªme N, Kume H, et al. Developmental genetic bases behind the independent origin of the tympanic membrane in mammals and diapsids. Nat Commun. 2015;6:6853 pubmed publisher..We propose that differences in connection and release by various pharyngeal skeletal elements resulted in structural diversity, leading to the acquisition of the tympanic membrane in two distinct manners during amniote evolution. ..
- Sheen C, Kuss P, Narisawa S, Yadav M, Nigro J, Wang W, et al. Pathophysiological role of vascular smooth muscle alkaline phosphatase in medial artery calcification. J Bone Miner Res. 2015;30:824-36 pubmed publisher..This study shows that TNAP in the vasculature contributes to the pathology of MVC and that it is a druggable target. ..
- Sinha S, Mundy C, Bechtold T, Sgariglia F, Ibrahim M, Billings P, et al. Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice. PLoS Genet. 2017;13:e1006742 pubmed publisher..Our study is the first to reveal that the cranial base can be affected in patients with HME and that osteochondroma formation is amenable to therapeutic drug intervention. ..
- Tang L, Wu X, Zhang H, Lu S, Wu M, Shen C, et al. A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. Hum Mol Genet. 2017;26:1280-1293 pubmed publisher..Taken together, we conclude that the S99N mutation in Fgf9 causes SYNS3 via the disturbance of joint interzone formation. These results further implicate the crucial role of Fgf9 during embryonic joint development. ..
- Savontaus M, Rintala Jämsä M, Morko J, Ronning O, Metsaranta M, Vuorio E. Abnormal craniofacial development and expression patterns of extracellular matrix components in transgenic Del1 mice harboring a deletion mutation in the type II collagen gene. Orthod Craniofac Res. 2004;7:216-26 pubmed..In addition to affecting endochondral ossification, the type II collagen mutation also disturbs intramembranous ossification in the developing craniofacial skeleton. ..
- Furutera T, Takechi M, Kitazawa T, Takei J, Yamada T, Vu Hoang T, et al. Differing contributions of the first and second pharyngeal arches to tympanic membrane formation in the mouse and chick. Development. 2017;144:3315-3324 pubmed publisher..By contrast, in mouse, TM formation is highly associated with an interdependent relationship between the EAM and tympanic ring in PA1. ..
- Klüppel M, Wight T, Chan C, Hinek A, Wrana J. Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis. Development. 2005;132:3989-4003 pubmed..Our study demonstrates an important biological role of differential chondroitin sulfation in mammalian development. ..
- Aro E, Salo A, Khatri R, FinnilÃ¤ M, Miinalainen I, Sormunen R, et al. Severe Extracellular Matrix Abnormalities and Chondrodysplasia in Mice Lacking Collagen Prolyl 4-Hydroxylase Isoenzyme II in Combination with a Reduced Amount of Isoenzyme I. J Biol Chem. 2015;290:16964-78 pubmed publisher..Our mouse data suggest that inactivating mutations in human P4HA2 are not likely to lead to skeletal disorders, and a simultaneous decrease in P4HA1 function would most probably be required to generate such a disease phenotype. ..
- Heinonen J, Zhang F, Surmann Schmitt C, Honkala S, Stock M, Poutanen M, et al. Defects in chondrocyte maturation and secondary ossification in mouse knee joint epiphyses due to Snorc deficiency. Osteoarthritis Cartilage. 2017;25:1132-1142 pubmed publisher..The interaction identified between recombinant Snorc core protein and FGF2 suggest functions related to FGF signaling. ..
- Little C, Meeker C, Golub S, Lawlor K, Farmer P, Smith S, et al. Blocking aggrecanase cleavage in the aggrecan interglobular domain abrogates cartilage erosion and promotes cartilage repair. J Clin Invest. 2007;117:1627-36 pubmed..We conclude that blocking aggrecanolysis in the aggrecan IGD alone protects against cartilage erosion and may potentiate cartilage repair. ..
- Matsumoto K, Kamiya N, Suwan K, Atsumi F, Shimizu K, Shinomura T, et al. Identification and characterization of versican/PG-M aggregates in cartilage. J Biol Chem. 2006;281:18257-63 pubmed..Biochemical analysis of normal articular cartilage and aggrecan-null cartilage from cmd (cartilage matrix deficiency)/cmd mice revealed that versican was present as a proteoglycan aggregate with both ..
- Doege K, Hall L, McKinnon W, Chen L, Stephens D, Garrison K. A remote upstream element regulates tissue-specific expression of the rat aggrecan gene. J Biol Chem. 2002;277:13989-97 pubmed..This is the first report of a gene control region which confers authentic tissue-specific regulation of aggrecan in vitro or in vivo and should greatly facilitate understanding the coordinate regulation of chondrocytic genes. ..
- Savontaus M, Metsranta M, Vuorio E. Retarded skeletal development in transgenic mice with a type II collagen mutation. Am J Pathol. 1996;149:2169-82 pubmed
- Patra D, DeLassus E, Liang G, Sandell L. Cartilage-specific ablation of site-1 protease in mice results in the endoplasmic reticulum entrapment of type IIb procollagen and down-regulation of cholesterol and lipid homeostasis. PLoS ONE. 2014;9:e105674 pubmed publisher..This role appears not to be related to lipid pathways or other current known functions of S1P and is likely dependent on additional, yet unknown, S1P substrates in chondrocytes. ..
- Bok J, Brunet L, Howard O, Burton Q, Wu D. Role of hindbrain in inner ear morphogenesis: analysis of Noggin knockout mice. Dev Biol. 2007;311:69-78 pubmed..In addition, the size of the otic capsule is increased in Noggin -/- mutants, which most likely is due to unopposed BMP signaling for chondrogenesis in the peri-otic mesenchyme. ..
- Moser M, Bosserhoff A, Hunziker E, Sandell L, Fassler R, Buettner R. Ultrastructural cartilage abnormalities in MIA/CD-RAP-deficient mice. Mol Cell Biol. 2002;22:1438-45 pubmed..Taken together, our data indicate that MIA/CD-RAP is essentially required for formation of the highly ordered ultrastructural fiber architecture in cartilage and may have a role in regulating chondrocyte matrix interactions. ..
- Lee F, Faivre E, Suzawa M, Lontok E, Ebert D, Cai F, et al. Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development. Dev Cell. 2011;21:315-27 pubmed publisher..We conclude that the sumoylation cycle greatly expands the functional capacity of transcription factors such as SF-1 and is leveraged during development to achieve cell-type-specific gene expression in multicellular organisms. ..
- Jiang Q, Qin X, Kawane T, Komori H, Matsuo Y, Taniuchi I, et al. Cbfb2 Isoform Dominates More Potent Cbfb1 and Is Required for Skeletal Development. J Bone Miner Res. 2016;31:1391-404 pubmed publisher..Although only Cbfb2 loss generated overt skeletal phenotypes, both may play major roles in skeletal development with functional redundancy. © 2016 American Society for Bone and Mineral Research. ..
- Ko Y, Kobbe B, Nicolae C, Miosge N, Paulsson M, Wagener R, et al. Matrilin-3 is dispensable for mouse skeletal growth and development. Mol Cell Biol. 2004;24:1691-9 pubmed..Altogether, our findings suggest functional redundancy among matrilins and demonstrate that the phenotypes of MED disorders are not caused by the absence of matrilin-3 in cartilage ECM. ..
- Murphy J, Heinegård R, McIntosh A, Sterchi D, Barry F. Distribution of cartilage molecules in the developing mouse joint. Matrix Biol. 1999;18:487-97 pubmed..Fibromodulin may function in the early genesis of articular cartilage and COMP may be associated with elaboration of a weight-bearing chondrocyte matrix. ..
- Boerboom D, Lafond J, Zheng X, Lapointe E, Mittaz L, Boyer A, et al. Partially redundant functions of Adamts1 and Adamts4 in the perinatal development of the renal medulla. Dev Dyn. 2011;240:1806-14 pubmed publisher..This study is thus the first to report Adamts4 expression and function in the mammalian kidney, and to demonstrate that Adamts1 and Adamts4 play redundant and essential roles in perinatal kidney development. ..
- Kouskoura T, El Fersioui Y, Angelini M, Graf D, Katsaros C, Chiquet M. Dislocated Tongue Muscle Attachment and Cleft Palate Formation. J Dent Res. 2016;95:453-9 pubmed publisher..We thus propose that in Pierre Robin sequence, palatal shelf elevation is not impaired simply by physical obstruction by the tongue but by a specific developmental defect that leads to functional changes in tongue movements. ..
- Watanabe H, Gao L, Sugiyama S, Doege K, Kimata K, Yamada Y. Mouse aggrecan, a large cartilage proteoglycan: protein sequence, gene structure and promoter sequence. Biochem J. 1995;308 ( Pt 2):433-40 pubmedSeven genomic clones for mouse aggrecan core protein have been isolated including 3 kb of 5'- and 7 kb of 3'-flanking sequences...
- Suttkus A, Holzer M, Morawski M, Arendt T. The neuronal extracellular matrix restricts distribution and internalization of aggregated Tau-protein. Neuroscience. 2016;313:225-35 pubmed publisher..Finally, the PNs as well as their three investigated components were shown to modulate the processes of distribution as well as internalization of Tau. ..
- Shin J, Ankamreddy H, Jakka N, Lee S, Kim U, Bok J. Temporal and spatial expression patterns of Hedgehog receptors in the developing inner and middle ear. Int J Dev Biol. 2017;61:557-563 pubmed publisher..These unique and differential expression patterns of Hh co-receptors suggest their roles in mediating various time- and space-specific functions of Shh during ear development. ..