메뉴 건너뛰기




Volumn 22, Issue 5, 2003, Pages 449-453

Protein consequences of the Col2a1 C-propeptide mutation in the chondrodysplastic Dmm mouse

Author keywords

Cartilage; Chondrodysplasia; Genetic disorder; Mouse model; Propeptide; Type II collagen

Indexed keywords

ASPARAGINE; C PROPEPTIDE; COLLAGEN TYPE 2; LYSINE; PEPTIDE; THREONINE; UNCLASSIFIED DRUG;

EID: 0242438182     PISSN: 0945053X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0945-053X(03)00077-5     Document Type: Article
Times cited : (21)

References (15)
  • 1
    • 0028863623 scopus 로고
    • Stickler syndrome. A mutation in the non-helical 3′ end of type II procollagen gene
    • Ahmad N.N., Dimascio J., Knowlton R.G., Tasman W.S. Stickler syndrome. A mutation in the non-helical 3′ end of type II procollagen gene. Arch. Ophthalmol. 113:1995;1454-1457.
    • (1995) Arch. Ophthalmol. , vol.113 , pp. 1454-1457
    • Ahmad, N.N.1    Dimascio, J.2    Knowlton, R.G.3    Tasman, W.S.4
  • 2
    • 0019391029 scopus 로고
    • Disproportionate micromelia (Dmm): An incomplete dominant mouse dwarfism with abnormal cartilage matrix
    • Brown K.S., Cranley R.E., Greene R., Kleinman H.K., Pennypacker J.P. Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix. J. Embryol. Exp. Morphol. 62:1981;165-182.
    • (1981) J. Embryol. Exp. Morphol. , vol.62 , pp. 165-182
    • Brown, K.S.1    Cranley, R.E.2    Greene, R.3    Kleinman, H.K.4    Pennypacker, J.P.5
  • 3
    • 0028938776 scopus 로고
    • A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage
    • Chan D., Cole W.G., Chow C.W., Mundlos S., Bateman J.F. A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. J. Biol. Chem. 270:1995;1747-1753.
    • (1995) J. Biol. Chem. , vol.270 , pp. 1747-1753
    • Chan, D.1    Cole, W.G.2    Chow, C.W.3    Mundlos, S.4    Bateman, J.F.5
  • 4
    • 0031595391 scopus 로고    scopus 로고
    • Role of the pro-alpha2(I) COOH-terminal region in assembly of type I collagen: Disruption of two intramolecular disulfide bonds in pro-alpha2(I) blocks assembly of type I collagen
    • Doyle S.A., Smith B.D. Role of the pro-alpha2(I) COOH-terminal region in assembly of type I collagen: disruption of two intramolecular disulfide bonds in pro-alpha2(I) blocks assembly of type I collagen. J. Cell. Biochem. 71:1998;233-242.
    • (1998) J. Cell. Biochem. , vol.71 , pp. 233-242
    • Doyle, S.A.1    Smith, B.D.2
  • 6
    • 0042769370 scopus 로고    scopus 로고
    • Assembly of collagen types II, IX and XI into nascent hetero-fibrils by a rat chondrocyte cell line
    • Fernandes R.J., Schmid T.M., Eyre D.R. Assembly of collagen types II, IX and XI into nascent hetero-fibrils by a rat chondrocyte cell line. Eur. J. Biochem. 270:2003;3243-3250.
    • (2003) Eur. J. Biochem. , vol.270 , pp. 3243-3250
    • Fernandes, R.J.1    Schmid, T.M.2    Eyre, D.R.3
  • 7
    • 0036447070 scopus 로고    scopus 로고
    • Building collagen molecules, fibrils, and suprafibrillar structures
    • Hulmes D.J. Building collagen molecules, fibrils, and suprafibrillar structures. J. Struct. Biol. 137:2002;2-10.
    • (2002) J. Struct. Biol. , vol.137 , pp. 2-10
    • Hulmes, D.J.1
  • 8
    • 0030955414 scopus 로고    scopus 로고
    • Mutations in fibrillar collagens (types I, II, III and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels
    • Kuivaniemi H., Tromp G., Prockop D.J. Mutations in fibrillar collagens (types I, II, III and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum. Mutat. 9:1997;300-315.
    • (1997) Hum. Mutat. , vol.9 , pp. 300-315
    • Kuivaniemi, H.1    Tromp, G.2    Prockop, D.J.3
  • 9
    • 0034108294 scopus 로고    scopus 로고
    • Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
    • Mortier G.R., Weis M., Nuytinck L., King L.M., Wilkin D.J., De Paepe A., Lachman R.S., Rimoin D.L., Eyre D.R., Cohn D.H. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J. Med. Genet. 37:2000;263-271.
    • (2000) J. Med. Genet. , vol.37 , pp. 263-271
    • Mortier, G.R.1    Weis, M.2    Nuytinck, L.3    King, L.M.4    Wilkin, D.J.5    De Paepe, A.6    Lachman, R.S.7    Rimoin, D.L.8    Eyre, D.R.9    Cohn, D.H.10
  • 10
    • 0031034806 scopus 로고    scopus 로고
    • Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1
    • Pace J.M., Li Y., Seegmiller R.E., Teuscher C., Taylor B.A., Olsen B.R. Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1. Dev. Dyn. 208:1997;25-33.
    • (1997) Dev. Dyn. , vol.208 , pp. 25-33
    • Pace, J.M.1    Li, Y.2    Seegmiller, R.E.3    Teuscher, C.4    Taylor, B.A.5    Olsen, B.R.6
  • 12
    • 0024235472 scopus 로고
    • Histochemical, immunofluorescence, and ultrastructural differences in fetal cartilage among three genetically distinct chondrodystrophic mice
    • Seegmiller R.E., Brown K., Chandrasekhar S. Histochemical, immunofluorescence, and ultrastructural differences in fetal cartilage among three genetically distinct chondrodystrophic mice. Teratology. 38:1988;579-592.
    • (1988) Teratology , vol.38 , pp. 579-592
    • Seegmiller, R.E.1    Brown, K.2    Chandrasekhar, S.3
  • 14
    • 0035935618 scopus 로고    scopus 로고
    • Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita
    • Unger S., Korkko J., Krakow D., Lachman R.S., Rimoin D.L., Cohn D.H. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Am. J. Med. Genet. 104:2001;140-146.
    • (2001) Am. J. Med. Genet. , vol.104 , pp. 140-146
    • Unger, S.1    Korkko, J.2    Krakow, D.3    Lachman, R.S.4    Rimoin, D.L.5    Cohn, D.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.