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Volumn 54, Issue 12, 2013, Pages 7450-7462

Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation

Author keywords

Buphthalmos; Collagen XVIII; Knobloch syndrome; Phthisis bulbi; Retinal vascularization

Indexed keywords

CD31 ANTIGEN; CD34 ANTIGEN; COLLAGEN TYPE 18; ISOPROTEIN; THROMBOSPONDIN 1;

EID: 84887841588     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-13039     Document Type: Article
Times cited : (21)

References (35)
  • 1
    • 0020064560 scopus 로고
    • Syndromes with cephaloceles
    • Cohen MM Jr, Lemire RJ. Syndromes with cephaloceles. Teratology. 1982; 25: 161-172.
    • (1982) Teratology , vol.25 , pp. 161-172
    • Cohen Jr., M.M.1    Lemire, R.J.2
  • 3
    • 0042322277 scopus 로고    scopus 로고
    • Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families
    • Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S. Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. Am J Med Genet A. 2003; 119A: 15-19.
    • (2003) Am J Med Genet A , vol.119 A , pp. 15-19
    • Kliemann, S.E.1    Waetge, R.T.2    Suzuki, O.T.3    Passos-Bueno, M.R.4    Rosemberg, S.5
  • 4
    • 9144253204 scopus 로고    scopus 로고
    • Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
    • Menzel O, Bekkeheien RC, Reymond A, et al. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat. 2004; 23: 77-84.
    • (2004) Hum Mutat , vol.23 , pp. 77-84
    • Menzel, O.1    Bekkeheien, R.C.2    Reymond, A.3
  • 5
    • 0034641597 scopus 로고    scopus 로고
    • Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
    • Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Hum Mol Genet. 2000; 9: 2051-2058.
    • (2000) Hum Mol Genet , vol.9 , pp. 2051-2058
    • Sertie, A.L.1    Sossi, V.2    Camargo, A.A.3    Zatz, M.4    Brahe, C.5    Passos-Bueno, M.R.6
  • 6
    • 0036913635 scopus 로고    scopus 로고
    • Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
    • Suzuki OT, Sertie AL, Der Kaloustian VM, et al. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Am J Hum Genet. 2002; 71: 1320-1329.
    • (2002) Am J Hum Genet , vol.71 , pp. 1320-1329
    • Suzuki, O.T.1    Sertie, A.L.2    Der Kaloustian, V.M.3
  • 7
    • 34447323029 scopus 로고    scopus 로고
    • CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
    • Keren B, Suzuki OT, Gerard-Blanluet M, et al. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. Am J Med Genet A. 2007; 143A: 1514-1518.
    • (2007) Am J Med Genet A , vol.143 A , pp. 1514-1518
    • Keren, B.1    Suzuki, O.T.2    Gerard-Blanluet, M.3
  • 8
    • 18444389460 scopus 로고    scopus 로고
    • Lack of collagen XVIII/endostatin results in eye abnormalities
    • Fukai N, Eklund L, Marneros AG, et al. Lack of collagen XVIII/endostatin results in eye abnormalities. EMBO J. 2002; 21: 1535-1544.
    • (2002) EMBO J , vol.21 , pp. 1535-1544
    • Fukai, N.1    Eklund, L.2    Marneros, A.G.3
  • 9
    • 24644503531 scopus 로고    scopus 로고
    • Abnormal maturation of the retinal vasculature in type XVIII collagen/endostatin deficient mice and changes in retinal glial cells due to lack of collagen types XV and XVIII
    • Hurskainen M, Eklund L, Hägg PO, et al. Abnormal maturation of the retinal vasculature in type XVIII collagen/endostatin deficient mice and changes in retinal glial cells due to lack of collagen types XV and XVIII. FASEB J. 2005; 19: 1564-1566.
    • (2005) FASEB J , vol.19 , pp. 1564-1566
    • Hurskainen, M.1    Eklund, L.2    Hägg, P.O.3
  • 10
    • 0038485888 scopus 로고    scopus 로고
    • Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome
    • Marneros AG, Olsen BR. Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome. Invest Ophthalmol Vis Sci. 2003; 44: 2367-2372.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 2367-2372
    • Marneros, A.G.1    Olsen, B.R.2
  • 11
    • 0642333828 scopus 로고    scopus 로고
    • Lack of type XVIII collagen results in anterior ocular defects
    • Ylikärppä R, Eklund L, Sormunen R, et al. Lack of type XVIII collagen results in anterior ocular defects. FASEB J. 2003; 17: 2257-2259.
    • (2003) FASEB J , vol.17 , pp. 2257-2259
    • Ylikärppä, R.1    Eklund, L.2    Sormunen, R.3
  • 12
    • 0842307063 scopus 로고    scopus 로고
    • Collagen XVIII/endostatin is essential for vision and retinal pigment epithelial function
    • Marneros AG, Keene DR, Hansen U, et al. Collagen XVIII/endostatin is essential for vision and retinal pigment epithelial function. EMBO J. 2004; 23: 89-99.
    • (2004) EMBO J , vol.23 , pp. 89-99
    • Marneros, A.G.1    Keene, D.R.2    Hansen, U.3
  • 13
    • 78049295286 scopus 로고    scopus 로고
    • Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
    • Mahajan VB, Olney AH, Garrett P, et al. Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. Am J Med Genet A. 2010; 152A: 2875-2879.
    • (2010) Am J Med Genet A , vol.152 A , pp. 2875-2879
    • Mahajan, V.B.1    Olney, A.H.2    Garrett, P.3
  • 14
    • 0031454617 scopus 로고    scopus 로고
    • Endostatin: An endogenous inhibitor of angiogenesis and tumor growth
    • O'Reilly MS, Boehm T, Shing Y, et al. Endostatin: an endogenous inhibitor of angiogenesis and tumor growth. Cell. 1997; 88: 277-285.
    • (1997) Cell , vol.88 , pp. 277-285
    • O'Reilly, M.S.1    Boehm, T.2    Shing, Y.3
  • 15
    • 0028176183 scopus 로고
    • Alpha 1(XVIII), a collagen chain with frequent interruptions in the collagenous sequence, a distinct tissue distribution, and homology with type XV collagen
    • Rehn M, Pihlajaniemi T. Alpha 1(XVIII), a collagen chain with frequent interruptions in the collagenous sequence, a distinct tissue distribution, and homology with type XV collagen. Proc Natl Acad Sci U S A. 1994; 91: 4234-4238.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 4234-4238
    • Rehn, M.1    Pihlajaniemi, T.2
  • 16
    • 0028964416 scopus 로고
    • Identification of three N-terminal ends of type XVIII collagen chains and tissue-specific differences in the expression of the corresponding transcripts. The longest form contains a novel motif homologous to rat and drosophila frizzled proteins
    • Rehn M, Pihlajaniemi T. Identification of three N-terminal ends of type XVIII collagen chains and tissue-specific differences in the expression of the corresponding transcripts. The longest form contains a novel motif homologous to rat and drosophila frizzled proteins. J Biol Chem. 1995; 270: 4705-4711.
    • (1995) J Biol Chem , vol.270 , pp. 4705-4711
    • Rehn, M.1    Pihlajaniemi, T.2
  • 17
    • 0029867830 scopus 로고    scopus 로고
    • Characterization of the mouse gene for the alpha 1 chain of type XVIII collagen (Col18a1) reveals that the three variant N-terminal polypeptide forms are transcribed from two widely separated promoters
    • Rehn M, Hintikka E, Pihlajaniemi T. Characterization of the mouse gene for the alpha 1 chain of type XVIII collagen (Col18a1) reveals that the three variant N-terminal polypeptide forms are transcribed from two widely separated promoters. Genomics. 1996; 32: 436-446.
    • (1996) Genomics , vol.32 , pp. 436-446
    • Rehn, M.1    Hintikka, E.2    Pihlajaniemi, T.3
  • 18
    • 0031962121 scopus 로고    scopus 로고
    • Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts
    • Saarela J, Ylikärppä R, Rehn M, Purmonen S, Pihlajaniemi T. Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts. Matrix Biol. 1998; 16: 319-328.
    • (1998) Matrix Biol , vol.16 , pp. 319-328
    • Saarela, J.1    Ylikärppä, R.2    Rehn, M.3    Purmonen, S.4    Pihlajaniemi, T.5
  • 19
    • 0242606853 scopus 로고    scopus 로고
    • Double knockout mice reveal a lack of major functional compensation between collagens XV and XVIII
    • Ylikärppä R, Eklund L, Sormunen R, et al. Double knockout mice reveal a lack of major functional compensation between collagens XV and XVIII. Matrix Biol. 2003; 22: 443-448.
    • (2003) Matrix Biol , vol.22 , pp. 443-448
    • Ylikärppä, R.1    Eklund, L.2    Sormunen, R.3
  • 20
    • 34248678714 scopus 로고    scopus 로고
    • Collagen XVIII/endostatin shows a ubiquitous distribution in human ocular tissues and endostatin-containing fragments accumulate in ocular fluid samples
    • Määttä M, Heljasvaara R, Pihlajaniemi T, Uusitalo M. Collagen XVIII/endostatin shows a ubiquitous distribution in human ocular tissues and endostatin-containing fragments accumulate in ocular fluid samples. Graefes Arch Clin Exp Ophthalmol. 2007; 245: 74-81.
    • (2007) Graefes Arch Clin Exp Ophthalmol , vol.245 , pp. 74-81
    • Määttä, M.1    Heljasvaara, R.2    Pihlajaniemi, T.3    Uusitalo, M.4
  • 21
    • 11144242116 scopus 로고    scopus 로고
    • Endostatin overexpression specifically in the lens and skin leads to cataract and ultrastructural alterations in basement membranes
    • Elamaa H, Sormunen R, Rehn M, Soininen R, Pihlajaniemi T. Endostatin overexpression specifically in the lens and skin leads to cataract and ultrastructural alterations in basement membranes. Am J Pathol. 2005; 166: 221-229.
    • (2005) Am J Pathol , vol.166 , pp. 221-229
    • Elamaa, H.1    Sormunen, R.2    Rehn, M.3    Soininen, R.4    Pihlajaniemi, T.5
  • 22
    • 0035065567 scopus 로고    scopus 로고
    • A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (pdeb(rd1) in FVB/N-derived transgenic mice
    • Gimenez E, Montoliu L. A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (pdeb(rd1) in FVB/N-derived transgenic mice. Lab Anim. 2001; 35: 153-156.
    • (2001) Lab Anim , vol.35 , pp. 153-156
    • Gimenez, E.1    Montoliu, L.2
  • 23
    • 5744238949 scopus 로고    scopus 로고
    • Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line
    • Utriainen A, Sormunen R, Kettunen M, et al. Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line. Hum Mol Genet. 2004; 13: 2089-2099.
    • (2004) Hum Mol Genet , vol.13 , pp. 2089-2099
    • Utriainen, A.1    Sormunen, R.2    Kettunen, M.3
  • 24
    • 79953149683 scopus 로고    scopus 로고
    • Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane
    • Kinnunen AI, Sormunen R, Elamaa H, et al. Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane. J Biol Chem. 2011; 286: 7755-7764.
    • (2011) J Biol Chem , vol.286 , pp. 7755-7764
    • Kinnunen, A.I.1    Sormunen, R.2    Elamaa, H.3
  • 25
    • 0000425845 scopus 로고
    • Tissuespecific and differentiation-specific expression of a human K14 keratin gene in transgenic mice
    • Vassar R, Rosenberg M, Ross S, Tyner A, Fuchs E. Tissuespecific and differentiation-specific expression of a human K14 keratin gene in transgenic mice. Proc Natl Acad Sci U S A. 1989; 86: 1563-1567.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 1563-1567
    • Vassar, R.1    Rosenberg, M.2    Ross, S.3    Tyner, A.4    Fuchs, E.5
  • 26
    • 34547477930 scopus 로고    scopus 로고
    • Corneal epithelial cell fate is maintained during repair by Notch1 signaling via the regulation of vitamin A metabolism
    • Vauclair S, Majo F, Durham AD, Ghyselinck NB, Barrandon Y, Radtke F. Corneal epithelial cell fate is maintained during repair by Notch1 signaling via the regulation of vitamin A metabolism. Dev Cell. 2007; 13: 242-253.
    • (2007) Dev Cell , vol.13 , pp. 242-253
    • Vauclair, S.1    Majo, F.2    Durham, A.D.3    Ghyselinck, N.B.4    Barrandon, Y.5    Radtke, F.6
  • 28
    • 20144373894 scopus 로고    scopus 로고
    • How pathogenic is the P. D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
    • author reply 316
    • Suzuki OT, Bagatini K, Sertie AL, Passos-Bueno MR. How pathogenic is the P. D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? Hum Mutat. 2005; 25: 314-315, author reply 316.
    • (2005) Hum Mutat , vol.25 , pp. 314-315
    • Suzuki, O.T.1    Bagatini, K.2    Sertie, A.L.3    Passos-Bueno, M.R.4
  • 29
    • 33644896008 scopus 로고    scopus 로고
    • Mutations in collagen 18A1 and their relevance to the human phenotype
    • Passos-Bueno MR, Suzuki OT, Armelin-Correa LM, et al. Mutations in collagen 18A1 and their relevance to the human phenotype. An Acad Bras Cienc. 2006; 78: 123-131.
    • (2006) An Acad Bras Cienc , vol.78 , pp. 123-131
    • Passos-Bueno, M.R.1    Suzuki, O.T.2    Armelin-Correa, L.M.3
  • 31
    • 84876552388 scopus 로고    scopus 로고
    • Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations
    • Elhawy E, Kamthan G, Dong CQ, Danias J. Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations. Hum Genomics. 2012; 6: 22.
    • (2012) Hum Genomics , vol.6 , pp. 22
    • Elhawy, E.1    Kamthan, G.2    Dong, C.Q.3    Danias, J.4
  • 32
    • 0032850748 scopus 로고    scopus 로고
    • Angiogenesis inhibitor endostatin is a distinct component of elastic fibers in vessel walls
    • Miosge N, Sasaki T, Timpl R. Angiogenesis inhibitor endostatin is a distinct component of elastic fibers in vessel walls. FASEB J. 1999; 13: 1743-1750.
    • (1999) FASEB J , vol.13 , pp. 1743-1750
    • Miosge, N.1    Sasaki, T.2    Timpl, R.3
  • 33
    • 0034283571 scopus 로고    scopus 로고
    • Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity
    • Sasaki T, Larsson H, Tisi D, Claesson-Welsh L, Hohenester E, Timpl R. Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity. J Mol Biol. 2000; 301: 1179-1190.
    • (2000) J Mol Biol , vol.301 , pp. 1179-1190
    • Sasaki, T.1    Larsson, H.2    Tisi, D.3    Claesson-Welsh, L.4    Hohenester, E.5    Timpl, R.6
  • 35
    • 65449182736 scopus 로고    scopus 로고
    • Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
    • Suzuki O, Kague E, Bagatini K, et al. Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. Mol Vis. 2009; 15: 801-809.
    • (2009) Mol Vis , vol.15 , pp. 801-809
    • Suzuki, O.1    Kague, E.2    Bagatini, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.