-
2
-
-
69649092879
-
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome
-
Alazami, A.M., R. Shaheen, F. Alzahrani, K. Snape, A. Saggar, B. Brinkmann, P. Bavi, L.I. Al-Gazali, and F.S. Alkuraya, 2009. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am. J. Hum. Genet. 85:414-418. http://dx.doi.org/10.1016/j.ajhg.2009.08.010.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 414-418
-
-
Alazami, A.M.1
Shaheen, R.2
Alzahrani, F.3
Snape, K.4
Saggar, A.5
Brinkmann, B.6
Bavi, P.7
Al-Gazali, L.I.8
Alkuraya, F.S.9
-
3
-
-
0037076403
-
Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1
-
Bladt, F., A. Tafuri, S. Gelkop, L. Langille, and T. Pawson, 2002. Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1. Proc. Natl. Acad. Sci. USA. 99:6816-6821. http://dx.doi.org/10.1073/pnas.092130099.
-
(2002)
Proc. Natl. Acad. Sci. USA.
, vol.99
, pp. 6816-6821
-
-
Bladt, F.1
Tafuri, A.2
Gelkop, S.3
Langille, L.4
Pawson, T.5
-
4
-
-
0023767119
-
Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings
-
Boyd, P.A., J.W. Keeling, and R.H. Lindenbaum, 1988. Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. Am. J. Med. Genet. 31:159-168. http://dx.doi.org/ 10.1002/ajmg.1320310119.
-
(1988)
Am. J. Med. Genet.
, vol.31
, pp. 159-168
-
-
Boyd, P.A.1
Keeling, J.W.2
Lindenbaum, R.H.3
-
5
-
-
0035939662
-
Identification and characterization of a novel extracellular matrix protein nephronectin that is associated with integrin α8β1 in the embryonic kidney
-
Brandenberger, R., A. Schmidt, J. Linton, D. Wang, C. Backus, S. Denda, U. Müller, and L.F. Reichardt, 2001. Identification and characterization of a novel extracellular matrix protein nephronectin that is associated with integrin α8β1 in the embryonic kidney. J. Cell Biol. 154:447-458. http:// dx.doi.org/10.1083/jcb.200103069.
-
(2001)
J. Cell Biol.
, vol.154
, pp. 447-458
-
-
Brandenberger, R.1
Schmidt, A.2
Linton, J.3
Wang, D.4
Backus, C.5
Denda, S.6
Müller, U.7
Reichardt, L.F.8
-
6
-
-
77952354471
-
Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes
-
Carney, T.J., N.M. Feitosa, C. Sonntag, K. Slanchev, J. Kluger, D. Kiyozumi, J.M. Gebauer, J. Coffin Talbot, C.B. Kimmel, K. Sekiguchi, et al, 2010. Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. PLoS Genet. 6:e1000907. http://dx.doi.org/10.1371/journal.pgen.1000907.
-
(2010)
PLoS Genet
, vol.6
-
-
Carney, T.J.1
Feitosa, N.M.2
Sonntag, C.3
Slanchev, K.4
Kluger, J.5
Kiyozumi, D.6
Gebauer, J.M.7
Coffin Talbot, J.8
Kimmel, C.B.9
Sekiguchi, K.10
-
7
-
-
0003979375
-
Embryology of the Little and Bagg. X-rayed mouse stock
-
Carter, T.C, 1959. Embryology of the Little and Bagg. X-rayed mouse stock. J. Genet. 56:401-435. http://dx.doi.org/10.1007/BF02984794.
-
(1959)
J. Genet.
, vol.56
, pp. 401-435
-
-
Carter, T.C.1
-
8
-
-
34548019234
-
Ultrastructural localization of Fras1 in the sublamina densa of embryonic epithelial basement membranes
-
Dalezios, Y., B. Papasozomenos, P. Petrou, and G. Chalepakis, 2007. Ultrastructural localization of Fras1 in the sublamina densa of embryonic epithelial basement membranes. Arch. Dermatol. Res. 299:337-343. http://dx.doi.org/10.1007/s00403-007-0763-8.
-
(2007)
Arch. Dermatol. Res.
, vol.299
, pp. 337-343
-
-
Dalezios, Y.1
Papasozomenos, B.2
Petrou, P.3
Chalepakis, G.4
-
9
-
-
0028224249
-
A mouse model for Fraser syndrome?
-
Darling, S., and A. Gossler, 1994. A mouse model for Fraser syndrome? Clin. Dysmorphol. 3:91-95. http://dx.doi.org/10.1097/00019605-199404000-00001.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 91-95
-
-
Darling, S.1
Gossler, A.2
-
10
-
-
79951716389
-
The basement membrane of hair follicle stem cells is a muscle cell niche
-
Fujiwara, H., M. Ferreira, G. Donati, D.K. Marciano, J.M. Linton, Y. Sato, A. Hartner, K. Sekiguchi, L.F. Reichardt, and F.M. Watt, 2011. The basement membrane of hair follicle stem cells is a muscle cell niche. Cell. 144:577-589. http://dx.doi.org/10.1016/j.cell.2011.01.014.
-
(2011)
Cell
, vol.144
, pp. 577-589
-
-
Fujiwara, H.1
Ferreira, M.2
Donati, G.3
Marciano, D.K.4
Linton, J.M.5
Sato, Y.6
Hartner, A.7
Sekiguchi, K.8
Reichardt, L.F.9
Watt, F.M.10
-
11
-
-
34249714151
-
The requirement of the glutamic acid residue at the third position from the carboxyl termini of the laminin gamma chains in integrin binding by laminins
-
Ido, H., A. Nakamura, R. Kobayashi, S. Ito, S. Li, S. Futaki, and K. Sekiguchi, 2007. The requirement of the glutamic acid residue at the third position from the carboxyl termini of the laminin gamma chains in integrin binding by laminins. J. Biol. Chem. 282:11144-11154. http://dx.doi.org/10.1074/jbc.M609402200.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 11144-11154
-
-
Ido, H.1
Nakamura, A.2
Kobayashi, R.3
Ito, S.4
Li, S.5
Futaki, S.6
Sekiguchi, K.7
-
12
-
-
20944448235
-
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
-
Jadeja, S., I. Smyth, J.E. Pitera, M.S. Taylor, M. van Haelst, E. Bentley, L. McGregor, J. Hopkins, G. Chalepakis, N. Philip, et al, 2005. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat. Genet. 37:520-525. http://dx.doi.org/10.1038/ng1549.
-
(2005)
Nat. Genet.
, vol.37
, pp. 520-525
-
-
Jadeja, S.1
Smyth, I.2
Pitera, J.E.3
Taylor, M.S.4
van Haelst, M.5
Bentley, E.6
McGregor, L.7
Hopkins, J.8
Chalepakis, G.9
Philip, N.10
-
13
-
-
18844448193
-
Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle
-
Kiyozumi, D., A. Osada, N. Sugimoto, C.N. Weber, Y. Ono, T. Imai, A. Okada, and K. Sekiguchi, 2005. Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle. Exp. Cell Res. 306:9-23. http://dx.doi.org/10.1016/j.yexcr.2005.01.020.
-
(2005)
Exp. Cell Res.
, vol.306
, pp. 9-23
-
-
Kiyozumi, D.1
Osada, A.2
Sugimoto, N.3
Weber, C.N.4
Ono, Y.5
Imai, T.6
Okada, A.7
Sekiguchi, K.8
-
14
-
-
33747051471
-
Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects
-
Kiyozumi, D., N. Sugimoto, and K. Sekiguchi, 2006. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Proc. Natl. Acad. Sci. USA. 103:11981-11986. http://dx.doi.org/10.1073/pnas.0601011103.
-
(2006)
Proc. Natl. Acad. Sci. USA.
, vol.103
, pp. 11981-11986
-
-
Kiyozumi, D.1
Sugimoto, N.2
Sekiguchi, K.3
-
15
-
-
34447498922
-
The ECM protein nephronectin promotes kidney development via integrin α8β1-mediated stimulation of Gdnf expression
-
Linton, J.M., G.R. Martin, and L.F. Reichardt, 2007. The ECM protein nephronectin promotes kidney development via integrin α8β1-mediated stimulation of Gdnf expression. Development. 134:2501-2509. http://dx.doi.org/10.1242/dev.005033.
-
(2007)
Development
, vol.134
, pp. 2501-2509
-
-
Linton, J.M.1
Martin, G.R.2
Reichardt, L.F.3
-
16
-
-
51349089252
-
Transcriptome-based systematic identification of extracellular matrix proteins
-
Manabe, R., K. Tsutsui, T. Yamada, M. Kimura, I. Nakano, C. Shimono, N. Sanzen, Y. Furutani, T. Fukuda, Y. Oguri, et al, 2008. Transcriptome-based systematic identification of extracellular matrix proteins. Proc. Natl. Acad. Sci. USA. 105:12849-12854. http://dx.doi.org/10.1073/pnas.0803640105.
-
(2008)
Proc. Natl. Acad. Sci. USA.
, vol.105
, pp. 12849-12854
-
-
Manabe, R.1
Tsutsui, K.2
Yamada, T.3
Kimura, M.4
Nakano, I.5
Shimono, C.6
Sanzen, N.7
Furutani, Y.8
Fukuda, T.9
Oguri, Y.10
-
17
-
-
0037872680
-
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
-
McGregor, L., V. Makela, S.M. Darling, S. Vrontou, G. Chalepakis, C. Roberts, N. Smart, P. Rutland, N. Prescott, J. Hopkins, et al, 2003. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat. Genet. 34:203-208. http://dx.doi.org/10.1038/ng1142.
-
(2003)
Nat. Genet.
, vol.34
, pp. 203-208
-
-
McGregor, L.1
Makela, V.2
Darling, S.M.3
Vrontou, S.4
Chalepakis, G.5
Roberts, C.6
Smart, N.7
Rutland, P.8
Prescott, N.9
Hopkins, J.10
-
18
-
-
15844384629
-
Renal and neuronal abnormalities in mice lacking GDNF
-
Moore, M.W., R.D. Klein, I. Fariñas, H. Sauer, M. Armanini, H. Phillips, L.F. Reichardt, A.M. Ryan, K. Carver-Moore, and A. Rosenthal, 1996. Renal and neuronal abnormalities in mice lacking GDNF. Nature. 382:76-79. http://dx.doi.org/10.1038/382076a0.
-
(1996)
Nature
, vol.382
, pp. 76-79
-
-
Moore, M.W.1
Klein, R.D.2
Fariñas, I.3
Sauer, H.4
Armanini, M.5
Phillips, H.6
Reichardt, L.F.7
Ryan, A.M.8
Carver-Moore, K.9
Rosenthal, A.10
-
19
-
-
0030614865
-
Integrin α8β1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis
-
Müller, U., D. Wang, S. Denda, J.J. Meneses, R.A. Pedersen, and L.F. Reichardt, 1997. Integrin α8β1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. Cell. 88:603-613. http://dx.doi.org/10.1016/S0092-8674(00)81903-0.
-
(1997)
Cell
, vol.88
, pp. 603-613
-
-
Müller, U.1
Wang, D.2
Denda, S.3
Meneses, J.J.4
Pedersen, R.A.5
Reichardt, L.F.6
-
20
-
-
33645380797
-
Ligand-binding specificities of lamininbinding integrins: a comprehensive survey of laminin-integrin interactions using recombinant α3β1, α6β1, α7β1 and α6β4 integrins
-
Nishiuchi, R., J. Takagi, M. Hayashi, H. Ido, Y. Yagi, N. Sanzen, T. Tsuji, M. Yamada, and K. Sekiguchi, 2006. Ligand-binding specificities of lamininbinding integrins: a comprehensive survey of laminin-integrin interactions using recombinant α3β1, α6β1, α7β1 and α6β4 integrins. Matrix Biol. 25:189-197. http://dx.doi.org/10.1016/j.matbio.2005.12.001.
-
(2006)
Matrix Biol
, vol.25
, pp. 189-197
-
-
Nishiuchi, R.1
Takagi, J.2
Hayashi, M.3
Ido, H.4
Yagi, Y.5
Sanzen, N.6
Tsuji, T.7
Yamada, M.8
Sekiguchi, K.9
-
21
-
-
9644300843
-
Expression of MAEG, a novel basement membrane protein, in mouse hair follicle morphogenesis
-
Osada, A., D. Kiyozumi, K. Tsutsui, Y. Ono, C.N. Weber, N. Sugimoto, T. Imai, A. Okada, and K. Sekiguchi, 2005. Expression of MAEG, a novel basement membrane protein, in mouse hair follicle morphogenesis. Exp. Cell Res. 303:148-159. http://dx.doi.org/10.1016/j.yexcr.2004.04.053.
-
(2005)
Exp. Cell Res.
, vol.303
, pp. 148-159
-
-
Osada, A.1
Kiyozumi, D.2
Tsutsui, K.3
Ono, Y.4
Weber, C.N.5
Sugimoto, N.6
Imai, T.7
Okada, A.8
Sekiguchi, K.9
-
22
-
-
33847080075
-
Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development
-
Petrou, P., R. Chiotaki, Y. Dalezios, and G. Chalepakis, 2007a. Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development. Exp. Cell Res. 313:910-920. http://dx.doi.org/10.1016/j.yexcr.2006.12.008.
-
(2007)
Exp. Cell Res.
, vol.313
, pp. 910-920
-
-
Petrou, P.1
Chiotaki, R.2
Dalezios, Y.3
Chalepakis, G.4
-
23
-
-
36549080131
-
Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa
-
Petrou, P., E. Pavlakis, Y. Dalezios, and G. Chalepakis, 2007b. Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa. Matrix Biol. 26:652-658. http://dx.doi.org/10.1016/j.matbio.2007.05.008
-
(2007)
Matrix Biol
, vol.26
, pp. 652-658
-
-
Petrou, P.1
Pavlakis, E.2
Dalezios, Y.3
Chalepakis, G.4
-
24
-
-
15844426332
-
Defects in enteric innervation and kidney development in mice lacking GDNF
-
Pichel, J.G., L. Shen, H.Z. Sheng, A.C. Granholm, J. Drago, A. Grinberg, E.J. Lee, S.P. Huang, M. Saarma, B.J. Hoffer, et al, 1996. Defects in enteric innervation and kidney development in mice lacking GDNF. Nature. 382:73-76. http://dx.doi.org/10.1038/382073a0.
-
(1996)
Nature
, vol.382
, pp. 73-76
-
-
Pichel, J.G.1
Shen, L.2
Sheng, H.Z.3
Granholm, A.C.4
Drago, J.5
Grinberg, A.6
Lee, E.J.7
Huang, S.P.8
Saarma, M.9
Hoffer, B.J.10
-
25
-
-
57049160305
-
Fras1, a basement membraneassociated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli
-
Pitera, J.E., P.J. Scambler, and A.S. Woolf, 2008. Fras1, a basement membraneassociated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli. Hum. Mol. Genet. 17:3953-3964. http://dx.doi.org/10.1093/hmg/ddn297.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3953-3964
-
-
Pitera, J.E.1
Scambler, P.J.2
Woolf, A.S.3
-
26
-
-
0029901727
-
Renal agenesis and the absence of enteric neurons in mice lacking GDNF
-
Sánchez, M.P., I. Silos-Santiago, J. Frisén, B. He, S.A. Lira, and M. Barbacid, 1996. Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature. 382:70-73. http://dx.doi.org/10.1038/382070a0.
-
(1996)
Nature
, vol.382
, pp. 70-73
-
-
Sánchez, M.P.1
Silos-Santiago, I.2
Frisén, J.3
He, B.4
Lira, S.A.5
Barbacid, M.6
-
27
-
-
67649771331
-
Molecular basis of the recognition of nephronectin by integrin α8β1
-
Sato, Y., T. Uemura, K. Morimitsu, R. Sato-Nishiuchi, R. Manabe, J. Takagi, M. Yamada, and K. Sekiguchi, 2009. Molecular basis of the recognition of nephronectin by integrin α8β1. J. Biol. Chem. 284:14524-14536. http:// dx.doi.org/10.1074/jbc.M900200200.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 14524-14536
-
-
Sato, Y.1
Uemura, T.2
Morimitsu, K.3
Sato-Nishiuchi, R.4
Manabe, R.5
Takagi, J.6
Yamada, M.7
Sekiguchi, K.8
-
28
-
-
0036712853
-
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
-
Slavotinek, A.M., and C.J. Tifft, 2002. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J. Med. Genet. 39:623-633. http:// dx.doi.org/10.1136/jmg.39.9.623.
-
(2002)
J. Med. Genet.
, vol.39
, pp. 623-633
-
-
Slavotinek, A.M.1
Tifft, C.J.2
-
29
-
-
4544312319
-
The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis
-
Smyth, I., X. Du, M.S. Taylor, M.J. Justice, B. Beutler, and I.J. Jackson, 2004. The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. Proc. Natl. Acad. Sci. USA. 101:13560-13565. http://dx.doi.org/10.1073/pnas.0402760101.
-
(2004)
Proc. Natl. Acad. Sci. USA.
, vol.101
, pp. 13560-13565
-
-
Smyth, I.1
Du, X.2
Taylor, M.S.3
Justice, M.J.4
Beutler, B.5
Jackson, I.J.6
-
30
-
-
0035041854
-
C-terminal opening mimics 'inside-out' activation of integrin alpha5beta1
-
Takagi, J., H.P. Erickson, and T.A. Springer, 2001. C-terminal opening mimics 'inside-out' activation of integrin alpha5beta1. Nat. Struct. Biol. 8:412-416. http://dx.doi.org/10.1038/87569.
-
(2001)
Nat. Struct. Biol.
, vol.8
, pp. 412-416
-
-
Takagi, J.1
Erickson, H.P.2
Springer, T.A.3
-
31
-
-
0842310833
-
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1
-
Takamiya, K., V. Kostourou, S. Adams, S. Jadeja, G. Chalepakis, P.J. Scambler, R.L. Huganir, and R.H. Adams, 2004. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat. Genet. 36:172-177. http://dx.doi.org/10.1038/ng1292.
-
(2004)
Nat. Genet.
, vol.36
, pp. 172-177
-
-
Takamiya, K.1
Kostourou, V.2
Adams, S.3
Jadeja, S.4
Chalepakis, G.5
Scambler, P.J.6
Huganir, R.L.7
Adams, R.H.8
-
32
-
-
23844445146
-
Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene
-
Timmer, J.R., T.W. Mak, K. Manova, K.V. Anderson, and L. Niswander, 2005. Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene. Proc. Natl. Acad. Sci. USA. 102:11746-11750. http://dx.doi.org/10.1073/pnas.0505404102.
-
(2005)
Proc. Natl. Acad. Sci. USA.
, vol.102
, pp. 11746-11750
-
-
Timmer, J.R.1
Mak, T.W.2
Manova, K.3
Anderson, K.V.4
Niswander, L.5
-
33
-
-
0038617716
-
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice
-
Vrontou, S., P. Petrou, B.I. Meyer, V.K. Galanopoulos, K. Imai, M. Yanagi, K. Chowdhury, P.J. Scambler, and G. Chalepakis, 2003. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat. Genet. 34:209-214. http://dx.doi.org/10.1038/ng1168
-
(2003)
Nat. Genet.
, vol.34
, pp. 209-214
-
-
Vrontou, S.1
Petrou, P.2
Meyer, B.I.3
Galanopoulos, V.K.4
Imai, K.5
Yanagi, M.6
Chowdhury, K.7
Scambler, P.J.8
Chalepakis, G.9
|