Col1a2

Summary

Gene Symbol: Col1a2
Description: collagen, type I, alpha 2
Alias: AA960264, AI325291, Col1a-2, Cola-2, Cola2, oim, collagen alpha-2(I) chain, alpha-2 type I collagen, collagen COL1A2, procollagen, type I, alpha 2
Species: mouse
Products:     Col1a2

Top Publications

  1. Bozec A, Bakiri L, Jimenez M, Schinke T, Amling M, Wagner E. Fra-2/AP-1 controls bone formation by regulating osteoblast differentiation and collagen production. J Cell Biol. 2010;190:1093-106 pubmed publisher
    ..These findings reveal a novel function of Fra-2/AP-1 as a positive regulator of bone and matrix formation in mice and humans. ..
  2. Miles C, Sims T, Camacho N, Bailey A. The role of the alpha2 chain in the stabilization of the collagen type I heterotrimer: a study of the type I homotrimer in oim mouse tissues. J Mol Biol. 2002;321:797-805 pubmed
    We have previously reported that the fragility of skin, tendon and bone from the oim mouse is related to a significant reduction in the intermolecular cross-linking...
  3. Camacho N, Hou L, Toledano T, Ilg W, Brayton C, Raggio C, et al. The material basis for reduced mechanical properties in oim mice bones. J Bone Miner Res. 1999;14:264-72 pubmed
    ..The heterozygous and homozygous oim mice (oim/+ and oim/oim) exhibit mild and severe OI phenotypes, respectively, serving as controlled animal models ..
  4. Forlino A, Porter F, Lee E, Westphal H, Marini J. Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem. 1999;274:37923-31 pubmed
    ..Alternative splicing involving the stop cassette results in retention of non-collagenous sequences. These mice reproduce the lethal phenotype of similar human mutations and are designated BrtlII. ..
  5. Aszodi A, Pfeifer A, Wendel M, Hiripi L, Fassler R. Mouse models for extracellular matrix diseases. J Mol Med (Berl). 1998;76:238-52 pubmed
    ..This review lists all mouse strains with spontaneous and experimentally induced mutations in ECM genes. The phenotypes of these mice are discussed in comparison with the human diseases. ..
  6. Grabner B, Landis W, Roschger P, Rinnerthaler S, Peterlik H, Klaushofer K, et al. Age- and genotype-dependence of bone material properties in the osteogenesis imperfecta murine model (oim). Bone. 2001;29:453-7 pubmed
    Cortical mineralization of long bones was studied in collagen alpha2(I)-deficient mice (oim) used as a model for human osteogenesis imperfecta...
  7. Vanleene M, Porter A, Guillot P, Boyde A, Oyen M, Shefelbine S. Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice. Bone. 2012;50:1317-23 pubmed publisher
    ..To address this research gap, we used a mouse model of the disease (oim) to measure these outcomes together in order to propose an underlying mechanism for the changes in properties...
  8. Kim I, Otto F, Zabel B, Mundlos S. Regulation of chondrocyte differentiation by Cbfa1. Mech Dev. 1999;80:159-70 pubmed
    ..Our studies identify Cbfa1 as a major positive regulator of chondrocyte differentiation. ..
  9. Vanleene M, Saldanha Z, Cloyd K, Jell G, Bou Gharios G, Bassett J, et al. Transplantation of human fetal blood stem cells in the osteogenesis imperfecta mouse leads to improvement in multiscale tissue properties. Blood. 2011;117:1053-60 pubmed publisher
    ..stem/stromal cells engrafted in bones, differentiated into mature osteoblasts, expressed osteocalcin, and produced COL1a2 protein, which is absent in oim mice...
  10. McBride D, Shapiro J, Dunn M. Bone geometry and strength measurements in aging mice with the oim mutation. Calcif Tissue Int. 1998;62:172-6 pubmed
    Mice with the naturally occurring oim mutation allows investigation of bone pathobiology in the setting of one mutation: a G deletion in the murine Cola-2 gene (exon 52) encoding the proalpha2(I) C-propeptide...

Detail Information

Publications62

  1. Bozec A, Bakiri L, Jimenez M, Schinke T, Amling M, Wagner E. Fra-2/AP-1 controls bone formation by regulating osteoblast differentiation and collagen production. J Cell Biol. 2010;190:1093-106 pubmed publisher
    ..These findings reveal a novel function of Fra-2/AP-1 as a positive regulator of bone and matrix formation in mice and humans. ..
  2. Miles C, Sims T, Camacho N, Bailey A. The role of the alpha2 chain in the stabilization of the collagen type I heterotrimer: a study of the type I homotrimer in oim mouse tissues. J Mol Biol. 2002;321:797-805 pubmed
    We have previously reported that the fragility of skin, tendon and bone from the oim mouse is related to a significant reduction in the intermolecular cross-linking...
  3. Camacho N, Hou L, Toledano T, Ilg W, Brayton C, Raggio C, et al. The material basis for reduced mechanical properties in oim mice bones. J Bone Miner Res. 1999;14:264-72 pubmed
    ..The heterozygous and homozygous oim mice (oim/+ and oim/oim) exhibit mild and severe OI phenotypes, respectively, serving as controlled animal models ..
  4. Forlino A, Porter F, Lee E, Westphal H, Marini J. Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem. 1999;274:37923-31 pubmed
    ..Alternative splicing involving the stop cassette results in retention of non-collagenous sequences. These mice reproduce the lethal phenotype of similar human mutations and are designated BrtlII. ..
  5. Aszodi A, Pfeifer A, Wendel M, Hiripi L, Fassler R. Mouse models for extracellular matrix diseases. J Mol Med (Berl). 1998;76:238-52 pubmed
    ..This review lists all mouse strains with spontaneous and experimentally induced mutations in ECM genes. The phenotypes of these mice are discussed in comparison with the human diseases. ..
  6. Grabner B, Landis W, Roschger P, Rinnerthaler S, Peterlik H, Klaushofer K, et al. Age- and genotype-dependence of bone material properties in the osteogenesis imperfecta murine model (oim). Bone. 2001;29:453-7 pubmed
    Cortical mineralization of long bones was studied in collagen alpha2(I)-deficient mice (oim) used as a model for human osteogenesis imperfecta...
  7. Vanleene M, Porter A, Guillot P, Boyde A, Oyen M, Shefelbine S. Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice. Bone. 2012;50:1317-23 pubmed publisher
    ..To address this research gap, we used a mouse model of the disease (oim) to measure these outcomes together in order to propose an underlying mechanism for the changes in properties...
  8. Kim I, Otto F, Zabel B, Mundlos S. Regulation of chondrocyte differentiation by Cbfa1. Mech Dev. 1999;80:159-70 pubmed
    ..Our studies identify Cbfa1 as a major positive regulator of chondrocyte differentiation. ..
  9. Vanleene M, Saldanha Z, Cloyd K, Jell G, Bou Gharios G, Bassett J, et al. Transplantation of human fetal blood stem cells in the osteogenesis imperfecta mouse leads to improvement in multiscale tissue properties. Blood. 2011;117:1053-60 pubmed publisher
    ..stem/stromal cells engrafted in bones, differentiated into mature osteoblasts, expressed osteocalcin, and produced COL1a2 protein, which is absent in oim mice...
  10. McBride D, Shapiro J, Dunn M. Bone geometry and strength measurements in aging mice with the oim mutation. Calcif Tissue Int. 1998;62:172-6 pubmed
    Mice with the naturally occurring oim mutation allows investigation of bone pathobiology in the setting of one mutation: a G deletion in the murine Cola-2 gene (exon 52) encoding the proalpha2(I) C-propeptide...
  11. Daley E, Streeten E, Sorkin J, Kuznetsova N, Shapses S, Carleton S, et al. Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model. J Bone Miner Res. 2010;25:247-61 pubmed publisher
    Osteogenesis imperfecta (OI) is a heritable form of bone fragility typically associated with a dominant COL1A1 or COL1A2 mutation...
  12. Chipman S, Sweet H, McBride D, Davisson M, Marks S, Shuldiner A, et al. Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1993;90:1701-5 pubmed
    ..We describe a strain of mice with a nonlethal recessively inherited mutation (oim) that results in phenotypic and biochemical features that simulate moderate to severe human OI...
  13. Kalajzic I, Terzic J, Rumboldt Z, Mack K, Naprta A, Ledgard F, et al. Osteoblastic response to the defective matrix in the osteogenesis imperfecta murine (oim) mouse. Endocrinology. 2002;143:1594-601 pubmed
    ..pathophysiology associated with the weakened bone matrix found in a murine model of osteogenesis imperfecta murine (oim)...
  14. Sims T, Miles C, Bailey A, Camacho N. Properties of collagen in OIM mouse tissues. Connect Tissue Res. 2003;44 Suppl 1:202-5 pubmed
    The deletion of the alpha2 chain from type I collagen in the oim mouse model of osteogenesis imperfecta has been shown to result in a significant reduction in the mechanical strength of the tail tendon and bone tissue...
  15. Forlino A, Kuznetsova N, Marini J, Leikin S. Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI. Matrix Biol. 2007;26:604-14 pubmed
    ..Based on these and our previous findings, we argue that the outcome in Brtl IV may be significantly affected by cellular stress and malfunction caused by the retention and degradation of newly synthesized mutant collagen. ..
  16. Phillips C, Bradley D, Schlotzhauer C, Bergfeld M, Libreros Minotta C, Gawenis L, et al. Oim mice exhibit altered femur and incisor mineral composition and decreased bone mineral density. Bone. 2000;27:219-26 pubmed
    ..The oim/oim mouse (homozygous for a null mutation in its COL1A2 gene of type I collagen) fails to synthesize functional pro alpha 2(I) collagen chains, synthesizing only ..
  17. Kuznetsova N, McBride D, Leikin S. Changes in thermal stability and microunfolding pattern of collagen helix resulting from the loss of alpha2(I) chain in osteogenesis imperfecta murine. J Mol Biol. 2003;331:191-200 pubmed
    ..question in more detail using purified tendon collagen from wild-type (alpha1(I)(2)alpha2(I) heterotrimers) and oim (alpha1(I)(3)) mice as well as artificial alpha1(I)(3) homotrimers obtained by refolding of rat-tail-tendon ..
  18. Brodeur A, Wirth D, Franklin C, Reneker L, Miner J, Phillips C. Type I collagen glomerulopathy: postnatal collagen deposition follows glomerular maturation. Kidney Int. 2007;71:985-93 pubmed
    ..Picosirius red staining of kidney sections demonstrates that in comparison to wild-type mice, Col1a2-deficient homozygous and heterozygous mice exhibit abnormal glomerular collagen deposition in a gene dosage-..
  19. Phillips C, Morgan A, Lever L, Wenstrup R. Sequence analysis of a full-length cDNA for the murine pro alpha 2(I) collagen chain: comparison of the derived primary structure with human pro alpha 2(I) collagen. Genomics. 1992;13:1345-6 pubmed
    ..The X and Y residues show 86% homology between murine and human pro alpha 2(I) collagen triple helices, with no truly nonconservative substitutions. ..
  20. 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
    ....
  21. McBride D, Choe V, Shapiro J, Brodsky B. Altered collagen structure in mouse tail tendon lacking the alpha 2(I) chain. J Mol Biol. 1997;270:275-84 pubmed
    ..The existence of a mouse model with a Cola-2 gene mutation (termed oim) that results in non-functional pro alpha 2(I) chains presents a unique opportunity to explore changes in collagen ..
  22. Camacho N, Landis W, Boskey A. Mineral changes in a mouse model of osteogenesis imperfecta detected by Fourier transform infrared microscopy. Connect Tissue Res. 1996;35:259-65 pubmed
    ..In the current study, the nature of the mineral in long bones of a mouse model of OI (oim/oim, a mutant which produces an alpha 1(I) collagen homotrimer) was examined by Fourier transform infrared ..
  23. Fratzl P, Paris O, Klaushofer K, Landis W. Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering. J Clin Invest. 1996;97:396-402 pubmed
    We have studied the size and orientation of mineral crystals in cortical bone of oim/oim mice, which are known to produce only alpha 1(I) collagen homotrimers and which may serve as a model for human osteogenesis imperfecta...
  24. Han S, McBride D, Losert W, Leikin S. Segregation of type I collagen homo- and heterotrimers in fibrils. J Mol Biol. 2008;383:122-32 pubmed publisher
    ..We argue that the subfibrillar segregation may exacerbate effects of a small fraction of alpha1(I) homotrimers on formation, properties, and remodeling of collagen fibers. ..
  25. Antoniv T, Tanaka S, Sudan B, De Val S, Liu K, Wang L, et al. Identification of a repressor in the first intron of the human alpha2(I) collagen gene (COL1A2). J Biol Chem. 2005;280:35417-23 pubmed
    The human and mouse genes that code for the alpha2 chain of collagen I (COL1A2 and Col1a2, respectively) share a common chromatin structure and nearly identical proximal promoter and far upstream enhancer sequences...
  26. Sauls K, de Vlaming A, Harris B, Williams K, Wessels A, Levine R, et al. Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res. 2012;96:109-19 pubmed publisher
    ..Additionally, these data indicate that disrupting key regulatory interactions during valve development can set the stage for the generation of postnatal myxomatous valve disease. ..
  27. Shin H, Divieti P, Sims N, Kobayashi T, Miao D, Karaplis A, et al. Gp130-mediated signaling is necessary for normal osteoblastic function in vivo and in vitro. Endocrinology. 2004;145:1376-85 pubmed
    ..These studies demonstrate the importance of gp130 signaling for osteoblast function and calcium homeostasis. ..
  28. Coleman R, Aguilera L, Quinones L, Lukashova L, Poirier C, Boskey A. Comparison of bone tissue properties in mouse models with collagenous and non-collagenous genetic mutations using FTIRI. Bone. 2012;51:920-8 pubmed publisher
    ..the bone structure and material properties of two mouse models of OI, the osteogenesis imperfecta mouse (oim/oim) and fragilitas ossium (fro/fro), in which bone fragility is due to a genetic defect in collagen type I and a ..
  29. Golovchenko S, Hattori T, Hartmann C, Gebhardt M, Gebhard S, Hess A, et al. Deletion of beta catenin in hypertrophic growth plate chondrocytes impairs trabecular bone formation. Bone. 2013;55:102-12 pubmed publisher
    ....
  30. Lincoln J, Florer J, Deutsch G, Wenstrup R, Yutzey K. ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development. Dev Dyn. 2006;235:3295-305 pubmed
    ....
  31. Xie J, Qi S, Yuan J, Xu Y, Li T, Li H, et al. Effects of antisense oligodeoxynucleotide to type I collagen gene on hypertrophic scars in the transplanted nude mouse model. J Cutan Pathol. 2009;36:1146-50 pubmed publisher
    ..ASODN was effective in downregulating type I collagen gene expression and could prove to be useful in the treatment of scars. ..
  32. Zhou W, Zhu H, Zhao J, Li H, Wan Y, Cao J, et al. Misexpression of Pknox2 in mouse limb bud mesenchyme perturbs zeugopod development and deltoid crest formation. PLoS ONE. 2013;8:e64237 pubmed publisher
    ....
  33. Ninichuk V, Kulkarni O, Clauss S, Anders H. Tubular atrophy, interstitial fibrosis, and inflammation in type 2 diabetic db/db mice. An accelerated model of advanced diabetic nephropathy. Eur J Med Res. 2007;12:351-5 pubmed
    ..Early uninephrectomy can accelerate the development of advanced DN in db/db mice which may be instrumental in the design of interventional studies that intend to focus on the molecular pathology of the progression to late stage DN. ..
  34. Trembley M, Velasquez L, de Mesy Bentley K, Small E. Myocardin-related transcription factors control the motility of epicardium-derived cells and the maturation of coronary vessels. Development. 2015;142:21-30 pubmed publisher
    ....
  35. Nieto N, Cederbaum A. S-adenosylmethionine blocks collagen I production by preventing transforming growth factor-beta induction of the COL1A2 promoter. J Biol Chem. 2005;280:30963-74 pubmed
    ..S-adenosylmethionine (AdoMet), transgenic mice harboring the -17 kb to +54 bp of the collagen alpha2 (I) promoter (COL1A2) cloned upstream from the beta-gal reporter gene were injected with carbon tetrachloride (CCl4) to induce fibrosis ..
  36. Irving N, Hardy J, Bahary N, Friedman J, Brown S. The alpha 2 chain of type 1 collagen does not map to mouse chromosome 16 but maps close to the Met proto-oncogene on mouse chromosome 6. Cytogenet Cell Genet. 1989;50:121-2 pubmed
    ....
  37. Sztrolovics R, van der Rest M, Roughley P. Identification of type I collagen gene polymorphisms: tolerance of sequence variation at an alpha 2(I) helix Y position. Matrix Biol. 1994;14:9-19 pubmed
    ..The data suggest that at least some alpha 1(I) and alpha 2(I) helix Y positions may be tolerant of sequence variation, particularly if the replacing amino acid is proline, a residue involved in stabilizing the collagen triple helix. ..
  38. Gacheru S, McGee C, Uriu Hare J, Kosonen T, Packman S, Tinker D, et al. Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys. 1993;301:325-9 pubmed
    ..Based on the present studies in cell culture, the production of essential enzymes and matrix proteins, such as lysyl oxidase and elastin, appear to be altered at the level of transcription or mRNA turnover. ..
  39. Saxon J, Baer D, Barton J, Hawkins T, Wu B, Trusk T, et al. BMP2 expression in the endocardial lineage is required for AV endocardial cushion maturation and remodeling. Dev Biol. 2017;430:113-128 pubmed publisher
    ..These data provide evidence that BMP2 expression in the endocardial lineage is essential for the distal outgrowth, maturation and remodeling of AV endocardial cushions into the normal membranous VS and the stratified AV valves. ..
  40. Andrikopoulos K, Suzuki H, Solursh M, Ramirez F. Localization of pro-alpha 2(V) collagen transcripts in the tissues of the developing mouse embryo. Dev Dyn. 1992;195:113-20 pubmed
    ....
  41. Hara M, Kobayakawa K, Ohkawa Y, Kumamaru H, Yokota K, Saito T, et al. Interaction of reactive astrocytes with type I collagen induces astrocytic scar formation through the integrin-N-cadherin pathway after spinal cord injury. Nat Med. 2017;23:818-828 pubmed publisher
    ..Our findings reveal environmental cues regulating astrocytic fate decisions, thereby providing a potential therapeutic target for CNS injury. ..
  42. Li P, Liang M, Zhu Y, Gong Y, Wang Y, Heng D, et al. Resveratrol inhibits collagen I synthesis by suppressing IGF-1R activation in intestinal fibroblasts. World J Gastroenterol. 2014;20:4648-61 pubmed publisher
    ..blotting and quantitative real-time polymerase chain reaction were used to characterize collagen I protein and col1a2 mRNA expression in mouse intestinal fibroblasts and CCD-(18)Co cells treated with IGF-1...
  43. Di Rocco F, Biosse Duplan M, Heuzé Y, Kaci N, Komla Ebri D, Munnich A, et al. FGFR3 mutation causes abnormal membranous ossification in achondroplasia. Hum Mol Genet. 2014;23:2914-25 pubmed publisher
    ..Demonstration of the impact of FGFR3 mutations on craniofacial development should initiate novel pharmacological and surgical therapeutic approaches. ..
  44. Dong X, Zoghi M, Ran Q, Wang X. Collagen mutation causes changes of the microdamage morphology in bone of an OI mouse model. Bone. 2010;47:1071-5 pubmed publisher
    ....
  45. Liau G, Yamada Y, de Crombrugghe B. Coordinate regulation of the levels of type III and type I collagen mRNA in most but not all mouse fibroblasts. J Biol Chem. 1985;260:531-6 pubmed
    ..We conclude that the levels of alpha1(III) and alpha2(I) collagen mRNA are often but not necessarily coordinately regulated by transformation in mouse cells. ..
  46. Rodero M, Legrand J, Bou Gharios G, Khosrotehrani K. Wound-associated macrophages control collagen 1α2 transcription during the early stages of skin wound healing. Exp Dermatol. 2013;22:143-5 pubmed publisher
    ..In conclusion, our results demonstrate an important role of wound macrophages in the control of collagen production during wound healing. ..
  47. Hultström M, Leh S, Paliege A, Bachmann S, Skogstrand T, Iversen B. Collagen-binding proteins in age-dependent changes in renal collagen turnover: microarray analysis of mRNA expression. Physiol Genomics. 2012;44:576-86 pubmed publisher
    ..Collagen stabilizing proteins may be essential for the control of renal ECM turnover and the pathogenesis of kidney fibrosis. ..
  48. Phillips C, Lever L, Pinnell S, Quarles L, Wenstrup R. Construction of a full-length murine pro alpha 2(I) collagen cDNA by the polymerase chain reaction. J Invest Dermatol. 1991;97:980-4 pubmed
    ..20mer; corresponding to nucleotide positions 42-61 in the first exon of the murine pro alpha 2(I) collagen gene, COL1A2), and with the adapter sequence 5' to the dT17 as the 3' primer...
  49. Buck M, Houglum K, Chojkier M. Tumor necrosis factor-alpha inhibits collagen alpha1(I) gene expression and wound healing in a murine model of cachexia. Am J Pathol. 1996;149:195-204 pubmed
    ....
  50. Parsons C, Stefanovic B, Seki E, Aoyama T, Latour A, Marzluff W, et al. Mutation of the 5'-untranslated region stem-loop structure inhibits α1(I) collagen expression in vivo. J Biol Chem. 2011;286:8609-19 pubmed publisher
    ..These results confirm an important role of the 5' stem-loop in regulating type I collagen mRNA and protein expression and provide a mouse model for further study of collagen-associated diseases. ..
  51. De Val S, Ponticos M, Antoniv T, Wells D, Abraham D, Partridge T, et al. Identification of the key regions within the mouse pro-alpha 2(I) collagen gene far-upstream enhancer. J Biol Chem. 2002;277:9286-92 pubmed
    ..A 400-bp sequence located between -17.0 and -16.6 is also essential for the enhancer because its deletion results in increased susceptibility to the chromatin environment. ..
  52. Saika S, Liu C, Azhar M, Sanford L, Doetschman T, Gendron R, et al. TGFbeta2 in corneal morphogenesis during mouse embryonic development. Dev Biol. 2001;240:419-32 pubmed
    ..Delayed appearance of macrophages in ocular tissues was observed in Tgfb2(-/-) mice. Malfunctioning macrophages may account for accumulation of cell mass in vitreous of Tgfb2 null mice. ..
  53. Inagaki Y, Higashi K, Kushida M, Hong Y, Nakao S, Higashiyama R, et al. Hepatocyte growth factor suppresses profibrogenic signal transduction via nuclear export of Smad3 with galectin-7. Gastroenterology. 2008;134:1180-90 pubmed publisher
    ..examined by using cultured hepatic stellate cells (HSC) and transgenic mice harboring alpha2(I) collagen gene (COL1A2) promoter...
  54. Beckers J, Herrmann F, Rieger S, Drobyshev A, Horsch M, Hrabe de Angelis M, et al. Identification and validation of novel ERBB2 (HER2, NEU) targets including genes involved in angiogenesis. Int J Cancer. 2005;114:590-7 pubmed
    ..Supplementary material for this article can be found on the International Journal of Cancer website at http://www.interscience.wiley.com/jpages/0020-7136/suppmat/index.html.) ..
  55. Wang X, Inoue S, Gu J, Miyoshi E, Noda K, Li W, et al. Dysregulation of TGF-beta1 receptor activation leads to abnormal lung development and emphysema-like phenotype in core fucose-deficient mice. Proc Natl Acad Sci U S A. 2005;102:15791-6 pubmed
    ..We propose that the lack of core fucosylation of TGF-beta1 receptors is crucial for a developmental and progressive/destructive emphysema, suggesting that perturbation of this function could underlie certain cases of human emphysema. ..
  56. Wessels A, van den Hoff M, Adamo R, Phelps A, Lockhart M, Sauls K, et al. Epicardially derived fibroblasts preferentially contribute to the parietal leaflets of the atrioventricular valves in the murine heart. Dev Biol. 2012;366:111-24 pubmed publisher
    ....
  57. Takeoka H, Iehara N, Uematsu Yanagita M, Abe H, Sunamoto M, Yamada Y, et al. A multifunctional transcription factor (A1p145) regulates the smooth muscle phenotype in mesangial cells. Biochem Biophys Res Commun. 1998;252:290-5 pubmed
    ..The levels of proliferating cell nuclear antigen mRNA were also suppressed. These results suggest that A1p145 is a negative transcription factor for COL4 and may be a phenotypic modulator. ..
  58. Masuda H, Hosokawa N, Nagata K. Expression and localization of collagen-binding stress protein Hsp47 in mouse embryo development: comparison with types I and II collagen. Cell Stress Chaperones. 1998;3:256-64 pubmed
    ..These results suggest the biological importance of Hsp47 as a collagen-specific molecular chaperone in the mouse developmental program. ..
  59. Wang K, Yamamoto H, Chin J, Werb Z, Vu T. Epidermal growth factor receptor-deficient mice have delayed primary endochondral ossification because of defective osteoclast recruitment. J Biol Chem. 2004;279:53848-56 pubmed
    ..EGFR signaling regulated osteoclast formation. Inhibition of EGFR tyrosine kinase activity decreased the generation of osteoclasts from cultured bone marrow cells. ..
  60. Grafe I, Yang T, Alexander S, Homan E, Lietman C, Jiang M, et al. Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta. Nat Med. 2014;20:670-5 pubmed publisher
    ..transforming growth factor-β (TGF-β) signaling is a mechanism of OI in both recessive (Crtap(-/-)) and dominant (Col1a2(tm1.1Mcbr)) OI mouse models...
  61. Havis E, Bonnin M, Olivera Martinez I, Nazaret N, Ruggiu M, Weibel J, et al. Transcriptomic analysis of mouse limb tendon cells during development. Development. 2014;141:3683-96 pubmed publisher
    ..FGF does not have a tenogenic effect and the inhibition of the ERK MAPK signalling pathway was sufficient to activate Scx in mouse limb mesodermal progenitors and mesenchymal stem cells...
  62. McGlinn E, van Bueren K, Fiorenza S, Mo R, Poh A, Forrest A, et al. Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development. Mech Dev. 2005;122:1218-33 pubmed
    ..Our data have also revealed that perturbation of early patterning events within the Gli3(Xt/Xt) limb culminates in a specific delay of anterior chondrogenesis which is subsequently realised as extra digits. ..