-
1
-
-
0033365199
-
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
-
S. Annunen, J. Körkkö, M. Czarny, M.L. Warman, H.G. Brunner, H. Kääriäinen, J.B. Mulliken, L. Tranebjæg, D.G. Brooks, G.F. Cox, J.R. Cruysberg, M.A. Curtis, S.L.H. Davenport, C.A. Friedrich, I. Kaitila, M.R. Krawczynski, A. Latos-Bielenska, S. Mukai, B.R. Olsen, N. Shinno, M. Somer, M. Vikkula, J. Zlotogora, D.J. Prockop, and L. Ala-Kokko Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes Am. J. Hum. Genet. 65 1999 974 983
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 974-983
-
-
Annunen, S.1
Körkkö, J.2
Czarny, M.3
Warman, M.L.4
Brunner, H.G.5
Kääriäinen, H.6
Mulliken, J.B.7
Tranebjæg, L.8
Brooks, D.G.9
Cox, G.F.10
Cruysberg, J.R.11
Curtis, M.A.12
Davenport, S.L.H.13
Friedrich, C.A.14
Kaitila, I.15
Krawczynski, M.R.16
Latos-Bielenska, A.17
Mukai, S.18
Olsen, B.R.19
Shinno, N.20
Somer, M.21
Vikkula, M.22
Zlotogora, J.23
Prockop, D.J.24
Ala-Kokko, L.25
more..
-
2
-
-
70449718820
-
Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity
-
D. Baas, M. Malbouyres, Z. Haftek-Terreau, D. Le Guellec, and F. Ruggiero Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity Matrix Biol. 28 2009 490 502
-
(2009)
Matrix Biol.
, vol.28
, pp. 490-502
-
-
Baas, D.1
Malbouyres, M.2
Haftek-Terreau, Z.3
Le Guellec, D.4
Ruggiero, F.5
-
3
-
-
0032796828
-
Regulation of midline development by antagonism of lefty and nodal signaling
-
B.W. Bisgrove, J.J. Essner, and H.J. Yost Regulation of midline development by antagonism of lefty and nodal signaling Development 126 1999 3253 3262
-
(1999)
Development
, vol.126
, pp. 3253-3262
-
-
Bisgrove, B.W.1
Essner, J.J.2
Yost, H.J.3
-
4
-
-
31144467969
-
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
-
W. Chen, K. Kahrizi, N.C. Meyer, Y. Riazalhosseini, G. Van Camp, H. Najmabadi, and R.J.H. Smith Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus J. Med. Genet. 42 2005 e61
-
(2005)
J. Med. Genet.
, vol.42
, pp. 61
-
-
Chen, W.1
Kahrizi, K.2
Meyer, N.C.3
Riazalhosseini, Y.4
Van Camp, G.5
Najmabadi, H.6
Smith, R.J.H.7
-
5
-
-
0034623075
-
Schwann cells synthesize type v collagen that contains a novel α4 chain
-
M.A. Chernousov, K. Rothblum, W.A. Tyler, R.C. Stahl, and D.J. Carey Schwann cells synthesize type V collagen that contains a novel α4 chain J. Biol. Chem. 275 2000 28208 28215
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 28208-28215
-
-
Chernousov, M.A.1
Rothblum, K.2
Tyler, W.A.3
Stahl, R.C.4
Carey, D.J.5
-
6
-
-
1242274415
-
Expression profiling and comparative genomics identify a conserved regulatory region controlling midline expression in the zebrafish embryo
-
T. Dickmeis, C. Plessy, S. Rastegar, P. Aanstad, R. Herwig, F. Chalmel, N. Fischer, and U. Strahle Expression profiling and comparative genomics identify a conserved regulatory region controlling midline expression in the zebrafish embryo Genome Res. 14 2004 228 238
-
(2004)
Genome Res.
, vol.14
, pp. 228-238
-
-
Dickmeis, T.1
Plessy, C.2
Rastegar, S.3
Aanstad, P.4
Herwig, R.5
Chalmel, F.6
Fischer, N.7
Strahle, U.8
-
7
-
-
0036510538
-
Schwann cell adhesion to a novel heparan sulfate binding site in the N-terminal domain of alpha 4 type v collagen is mediated by syndecan-3
-
R. Erdman, R.C. Stahl, K. Rothblum, M.A. Chernousov, and D.J. Carey Schwann cell adhesion to a novel heparan sulfate binding site in the N-terminal domain of alpha 4 type V collagen is mediated by syndecan-3 J. Biol. Chem. 277 2002 7619 7625
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 7619-7625
-
-
Erdman, R.1
Stahl, R.C.2
Rothblum, K.3
Chernousov, M.A.4
Carey, D.J.5
-
8
-
-
77952550873
-
Characterization of the six zebrafish clade B fibrillar procollagen genes, with evidence for evolutionarily conserved alternative splicing within the pro-[alpha]1(V) C-propeptide
-
G.G. Hoffman, A.M. Branam, G. Huang, F. Pelegri, W.G. Cole, R.M. Wenstrup, and D.S. Greenspan Characterization of the six zebrafish clade B fibrillar procollagen genes, with evidence for evolutionarily conserved alternative splicing within the pro-[alpha]1(V) C-propeptide Matrix Biol. 29 2010 261 275
-
(2010)
Matrix Biol.
, vol.29
, pp. 261-275
-
-
Hoffman, G.G.1
Branam, A.M.2
Huang, G.3
Pelegri, F.4
Cole, W.G.5
Wenstrup, R.M.6
Greenspan, D.S.7
-
9
-
-
0034708265
-
The pro-alpha 3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types v and XI procollagen chains
-
Y. Imamura, I.C. Scott, and D.S. Greenspan The pro-alpha 3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains J. Biol. Chem. 275 2000 8749 8759
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 8749-8759
-
-
Imamura, Y.1
Scott, I.C.2
Greenspan, D.S.3
-
11
-
-
0028815297
-
A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis
-
Y. Li, D.A. Lacerda, M.L. Warman, D.R. Beier, H. Yoshioka, Y. Ninomiya, J.T. Oxford, N.P. Morris, K. Andrikopoulos, F. Ramirez, B.B. Wardell, G.D. Lifferth, C. Teuscher, S.R. Woodward, B.A. Taylor, R.E. Seegmiller, and B.R. Olsen A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis Cell 80 1995 423 430
-
(1995)
Cell
, vol.80
, pp. 423-430
-
-
Li, Y.1
Lacerda, D.A.2
Warman, M.L.3
Beier, D.R.4
Yoshioka, H.5
Ninomiya, Y.6
Oxford, J.T.7
Morris, N.P.8
Andrikopoulos, K.9
Ramirez, F.10
Wardell, B.B.11
Lifferth, G.D.12
Teuscher, C.13
Woodward, S.R.14
Taylor, B.A.15
Seegmiller, R.E.16
Olsen, B.R.17
-
12
-
-
0028827055
-
The mRNAs for the three chains of human collagen type XI are widely distributed but not necessarily co-expressed: Implications for homotrimeric, heterotrimeric and heterotypic collagen molecules
-
V.C. Lui, R.Y. Kong, J. Nicholls, A.N. Cheung, and K.S. Cheah The mRNAs for the three chains of human collagen type XI are widely distributed but not necessarily co-expressed: implications for homotrimeric, heterotrimeric and heterotypic collagen molecules Biochem. J. 311 1995 511 516
-
(1995)
Biochem. J.
, vol.311
, pp. 511-516
-
-
Lui, V.C.1
Kong, R.Y.2
Nicholls, J.3
Cheung, A.N.4
Cheah, K.S.5
-
13
-
-
8944244526
-
Extensive alternative splicing within the amino-propeptide coding domain of alpha 2(XI) procollagen mRNAs. Expression of transcripts encoding truncated pro-alpha chains
-
V.H. Lui, L. Ng, E.Y. Sat, J. Nicholls, and K.E. Cheah Extensive alternative splicing within the amino-propeptide coding domain of alpha 2(XI) procollagen mRNAs. Expression of transcripts encoding truncated pro-alpha chains J. Biol. Chem. 271 1996 16945 16951
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 16945-16951
-
-
Lui, V.H.1
Ng, L.2
Sat, E.Y.3
Nicholls, J.4
Cheah, K.E.5
-
14
-
-
0032755733
-
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
-
W.T. McGuirt, S.D. Prasad, A.J. Griffith, H.P.M. Kunst, G.E. Green, K.B. Shpargel, C. Runge, C. Huybrechts, R.F. Mueller, E. Lynch, M.-C. King, H.G. Brunner, C.W.R.J. Cremers, M. Takanosu, S.-W. Li, M. Arita, R. Mayne, D.J. Prockop, G.V. Camp, and R.J.H. Smith Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13) Nat. Genet. 23 1999 413 419
-
(1999)
Nat. Genet.
, vol.23
, pp. 413-419
-
-
McGuirt, W.T.1
Prasad, S.D.2
Griffith, A.J.3
Kunst, H.P.M.4
Green, G.E.5
Shpargel, K.B.6
Runge, C.7
Huybrechts, C.8
Mueller, R.F.9
Lynch, E.10
King, M.-C.11
Brunner, H.G.12
Cremers, C.W.R.J.13
Takanosu, M.14
Li, S.-W.15
Arita, M.16
Mayne, R.17
Prockop, D.J.18
Camp, G.V.19
Smith, R.J.H.20
more..
-
15
-
-
0033912523
-
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
-
M. Melkoniemi, H.G. Brunner, S. Manouvrier, R. Hennekam, A. Superti-Furga, H. Kääriäinen, R.M. Pauli, T. van Essen, M.L. Warman, J. Bonaventure, P. Miny, and L. Ala-Kokko Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene Am. J. Hum. Genet. 66 2000 368 377
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 368-377
-
-
Melkoniemi, M.1
Brunner, H.G.2
Manouvrier, S.3
Hennekam, R.4
Superti-Furga, A.5
Kääriäinen, H.6
Pauli, R.M.7
Van Essen, T.8
Warman, M.L.9
Bonaventure, J.10
Miny, P.11
Ala-Kokko, L.12
-
16
-
-
0034120662
-
Developmentally regulated alternative splicing of the α1(XI) collagen chain: Spatial and temporal segregation of isoforms in the cartilage of fetal rat long bones
-
N.P. Morris, J.T. Oxford, G.B.M. Davies, B.F. Smoody, and D.R. Keene Developmentally regulated alternative splicing of the α1(XI) collagen chain: spatial and temporal segregation of isoforms in the cartilage of fetal rat long bones J. Histochem. Cytochem. 48 2000 725 742
-
(2000)
J. Histochem. Cytochem.
, vol.48
, pp. 725-742
-
-
Morris, N.P.1
Oxford, J.T.2
Davies, G.B.M.3
Smoody, B.F.4
Keene, D.R.5
-
17
-
-
0028938979
-
Alternative exon splicing within the amino-terminal nontriple-helical domain of the rat pro-α1(XI) collagen chain generates multiple forms of the mRNA transcript which exhibit tissue-dependent variation
-
J.T. Oxford, K.J. Doege, and N.P. Morris Alternative exon splicing within the amino-terminal nontriple-helical domain of the rat pro-α1(XI) collagen chain generates multiple forms of the mRNA transcript which exhibit tissue-dependent variation J. Biol. Chem. 270 1995 9478 9485
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 9478-9485
-
-
Oxford, J.T.1
Doege, K.J.2
Morris, N.P.3
-
18
-
-
0031733006
-
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüler syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
-
T. Pihlajamaa, D.J. Prockop, J. Faber, A. Winterpacht, B. Zabel, A. Giedion, P. Wiesbauer, J. Spranger, and L. Ala-Kokko Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüler syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome) Am. J. Med. Genet. 80 1998 115 120
-
(1998)
Am. J. Med. Genet.
, vol.80
, pp. 115-120
-
-
Pihlajamaa, T.1
Prockop, D.J.2
Faber, J.3
Winterpacht, A.4
Zabel, B.5
Giedion, A.6
Wiesbauer, P.7
Spranger, J.8
Ala-Kokko, L.9
-
19
-
-
0031691919
-
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II
-
A.J. Richards, S. Martin, A.C. Nicholls, J.B. Harrison, F.M. Pope, and N.P. Burrows A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II J. Med. Genet. 35 1998 846 848
-
(1998)
J. Med. Genet.
, vol.35
, pp. 846-848
-
-
Richards, A.J.1
Martin, S.2
Nicholls, A.C.3
Harrison, J.B.4
Pope, F.M.5
Burrows, N.P.6
-
20
-
-
23444447845
-
The collagen superfamily: From the extracellular matrix to the cell membrane
-
S. Ricard-Blum, and F. Ruggiero The collagen superfamily: from the extracellular matrix to the cell membrane Pathol Biol. 53 2005 430 442
-
(2005)
Pathol Biol.
, vol.53
, pp. 430-442
-
-
Ricard-Blum, S.1
Ruggiero, F.2
-
21
-
-
33845742436
-
A comprehensive study of the spatial and temporal expression of the col5a1 gene in mouse embryos: A clue for understanding collagen v function in developing connective tissues
-
M. Roulet, F. Ruggiero, G. Karsenty, and D. LeGuellec A comprehensive study of the spatial and temporal expression of the col5a1 gene in mouse embryos: a clue for understanding collagen V function in developing connective tissues Cell Tissue Res. 327 2007 323 332
-
(2007)
Cell Tissue Res.
, vol.327
, pp. 323-332
-
-
Roulet, M.1
Ruggiero, F.2
Karsenty, G.3
Leguellec, D.4
-
22
-
-
0033910981
-
Null alleles of the COL5A1 gene of type v collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types i and II)
-
U. Schwarze, M. Atkinson, G.G. Hoffman, D.S. Greenspan, and P.H. Byers Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II) Am. J. Hum. Genet. 66 2000 1757 1765
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1757-1765
-
-
Schwarze, U.1
Atkinson, M.2
Hoffman, G.G.3
Greenspan, D.S.4
Byers, P.H.5
-
23
-
-
0031890446
-
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagen
-
D.A. Sirko-Osadsa, A.M. Melissa, A.S. Jennifer, L. Mary Ann, L.W. Matthew, and H.R. Nathaniel Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagen J. Pediatr. 132 1998 368 371
-
(1998)
J. Pediatr.
, vol.132
, pp. 368-371
-
-
Sirko-Osadsa, D.A.1
Melissa, A.M.2
Jennifer, A.S.3
Mary Ann, L.4
Matthew, L.W.5
Nathaniel, H.R.6
-
24
-
-
34548676800
-
Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis
-
C. Söderhäll, I. Marenholz, T. Kerscher, F. Schendorf, J. Esparza-Gordillo, M. Worm, C. Gruber, G. Mayr, M. Albrecht, K. Rohde, H. Schulz, U. Wahn, N. Hubner, and Y.-A. Lee Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis PLoS Biol. 5 2007 e242
-
(2007)
PLoS Biol.
, vol.5
, pp. 242
-
-
Söderhäll, C.1
Marenholz, I.2
Kerscher, T.3
Schendorf, F.4
Esparza-Gordillo, J.5
Worm, M.6
Gruber, C.7
Mayr, G.8
Albrecht, M.9
Rohde, K.10
Schulz, H.11
Wahn, U.12
Hubner, N.13
Lee, Y.-A.14
-
25
-
-
7144223393
-
Differential in situ expression of alpha2(XI) collagen mRNA isoforms in the developing mouse
-
M. Sugimoto, T. Kimura, N. Tsumaki, Y. Matsui, K. Nakata, H. Kawahata, N. Yasui, Y. Kitamura, S. Nomura, and T. Ochi Differential in situ expression of alpha2(XI) collagen mRNA isoforms in the developing mouse Cell Tissue Res. 292 1998 325 332
-
(1998)
Cell Tissue Res.
, vol.292
, pp. 325-332
-
-
Sugimoto, M.1
Kimura, T.2
Tsumaki, N.3
Matsui, Y.4
Nakata, K.5
Kawahata, H.6
Yasui, N.7
Kitamura, Y.8
Nomura, S.9
Ochi, T.10
-
26
-
-
0028959321
-
Differential expression of an acidic domain in the amino-terminal propeptide of mouse pro-alpha2(XI) collagen by complex alternative splicing
-
N. Tsumaki, and T. Kimura Differential expression of an acidic domain in the amino-terminal propeptide of mouse pro-alpha2(XI) collagen by complex alternative splicing J. Biol. Chem. 270 1995 2372 2378
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 2372-2378
-
-
Tsumaki, N.1
Kimura, T.2
-
27
-
-
33846005181
-
Isoform-specific heparan sulfate binding within the amino terminal noncollagenous domain of collagen alpha 1 (XI)
-
L.R. Warner, R.J. Brown, S.M.C. Yingst, and J.T. Oxford Isoform-specific heparan sulfate binding within the amino terminal noncollagenous domain of collagen alpha 1 (XI) J. Biol. Chem. 281 2006 39507 39516
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 39507-39516
-
-
Warner, L.R.1
Brown, R.J.2
Yingst, S.M.C.3
Oxford, J.T.4
-
29
-
-
20844442589
-
Pro-α3(V) collagen chain is expressed in bone and its basic N-terminal peptide adheres to osteosarcoma cells
-
K. Yamaguchi, N. Matsuo, H. Sumiyoshi, N. Fujimoto, K.-I. Iyama, S. Yanagisawa, and H. Yoshioka Pro-α3(V) collagen chain is expressed in bone and its basic N-terminal peptide adheres to osteosarcoma cells Matrix Biol. 24 2005 283 294
-
(2005)
Matrix Biol.
, vol.24
, pp. 283-294
-
-
Yamaguchi, K.1
Matsuo, N.2
Sumiyoshi, H.3
Fujimoto, N.4
Iyama, K.-I.5
Yanagisawa, S.6
Yoshioka, H.7
-
30
-
-
64049090578
-
Expression profiling of zebrafish sox9 mutants reveals that Sox9 is required for retinal differentiation
-
H. Yokoi, Y.L. Yan, M.R. Miller, R.A. BreMiller, J.M. Catchen, E.A. Johnson, and J.H. Postlethwait Expression profiling of zebrafish sox9 mutants reveals that Sox9 is required for retinal differentiation Dev. Biol. 329 2009 1 15
-
(2009)
Dev. Biol.
, vol.329
, pp. 1-15
-
-
Yokoi, H.1
Yan, Y.L.2
Miller, M.R.3
Bremiller, R.A.4
Catchen, J.M.5
Johnson, E.A.6
Postlethwait, J.H.7
-
31
-
-
0029157097
-
Developmental pattern of expression of the mouse alpha1(XI) collagen gene (Col11a1)
-
H. Yoshioka, K.-I. Iyama, K. Inoguchi, M. Khaleduzzaman, Y. Ninomiya, and F. Ramirez Developmental pattern of expression of the mouse alpha1(XI) collagen gene (Col11a1) Dev. Dyn. 204 1995 41 47
-
(1995)
Dev. Dyn.
, vol.204
, pp. 41-47
-
-
Yoshioka, H.1
Iyama, K.-I.2
Inoguchi, K.3
Khaleduzzaman, M.4
Ninomiya, Y.5
Ramirez, F.6
-
32
-
-
34250377521
-
The collagens of hydra provide insight into the evolution of metazoan extracellular matrices
-
X. Zhang, R.P. Boot-Handford, J. Huxley-Jones, L.N. Forse, A.P. Mould, D.L. Robertson, L. Li, M. Athiyal, and M.P. Sarras Jr. The collagens of hydra provide insight into the evolution of metazoan extracellular matrices J. Biol. Chem. 282 2007 6792 6802
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 6792-6802
-
-
Zhang, X.1
Boot-Handford, R.P.2
Huxley-Jones, J.3
Forse, L.N.4
Mould, A.P.5
Robertson, D.L.6
Li, L.7
Athiyal, M.8
Sarras Jr., M.P.9
-
33
-
-
67349098140
-
Molecular cloning and expression of phospholipase C epsilon 1 in zebrafish
-
W. Zhou, and F. Hildebrandt Molecular cloning and expression of phospholipase C epsilon 1 in zebrafish Gene Expr. Patterns 9 2009 282 288
-
(2009)
Gene Expr. Patterns
, vol.9
, pp. 282-288
-
-
Zhou, W.1
Hildebrandt, F.2
|