메뉴 건너뛰기




Volumn 17, Issue 21, 2008, Pages 3368-3379

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

Author keywords

[No Author keywords available]

Indexed keywords

NEPHROCYSTIN 1; PROTEIN SH3; UNCLASSIFIED DRUG;

EID: 54449093278     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn231     Document Type: Article
Times cited : (59)

References (46)
  • 1
    • 0033848676 scopus 로고    scopus 로고
    • Molecular genetics of nephronophthisis and medullary cystic kidney disease
    • Hildebrandt, F. and Otto, E. (2000) Molecular genetics of nephronophthisis and medullary cystic kidney disease. J. Am. Soc. Nephrol., 11, 1753-1761.
    • (2000) J. Am. Soc. Nephrol , vol.11 , pp. 1753-1761
    • Hildebrandt, F.1    Otto, E.2
  • 2
    • 0026615931 scopus 로고
    • The nephronophthisis complex: Clinical and genetic aspects
    • Hildebrandt, F., Waldherr, R., Kutt, R. and Brandis, M. (1992) The nephronophthisis complex: Clinical and genetic aspects. Clin. Invest. 70, 802-808.
    • (1992) Clin. Invest , vol.70 , pp. 802-808
    • Hildebrandt, F.1    Waldherr, R.2    Kutt, R.3    Brandis, M.4
  • 4
    • 0034089698 scopus 로고    scopus 로고
    • Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis
    • Betz, R., Rensing, C., Otto, E., Mincheva, A., Zehnder, D., Lichter, P. and Hildebrandt, F. (2000) Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J. Pediatr., 136, 828-831.
    • (2000) J. Pediatr , vol.136 , pp. 828-831
    • Betz, R.1    Rensing, C.2    Otto, E.3    Mincheva, A.4    Zehnder, D.5    Lichter, P.6    Hildebrandt, F.7
  • 6
    • 0014865926 scopus 로고
    • Familial nephropathy associated with retinitis pigmentosa, cerebella ataxia and skeletal abnormalities
    • Mainzer, F., Saldino, R.M., Ozonoff, M.B. and Minagi, H. (1970) Familial nephropathy associated with retinitis pigmentosa, cerebella ataxia and skeletal abnormalities. Am. J. Med., 49, 556-562.
    • (1970) Am. J. Med , vol.49 , pp. 556-562
    • Mainzer, F.1    Saldino, R.M.2    Ozonoff, M.B.3    Minagi, H.4
  • 7
    • 0000784877 scopus 로고
    • Juvenile familial nephropathy with tapetoretinal degeneration: A new oculorenal dystrophy
    • Senior, B., Friedmann, A. and Braudo, J. (1961) Juvenile familial nephropathy with tapetoretinal degeneration: A new oculorenal dystrophy. Am. J. Ophthalmol., 52, 625-633.
    • (1961) Am. J. Ophthalmol , vol.52 , pp. 625-633
    • Senior, B.1    Friedmann, A.2    Braudo, J.3
  • 8
    • 0015535125 scopus 로고
    • Congenital hepatic fibrosis and nephronophthisis
    • Boichis, H., Passwell, J., David, R. and Miller, H. (1973) Congenital hepatic fibrosis and nephronophthisis. Q. J. Med., 42, 221-233.
    • (1973) Q. J. Med , vol.42 , pp. 221-233
    • Boichis, H.1    Passwell, J.2    David, R.3    Miller, H.4
  • 11
    • 0033965060 scopus 로고    scopus 로고
    • Nephrocystin: Gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans
    • Otto, E., Kispert, A., Schatzle, S., Lescher, B., Rensing, C. and Hildebrandt, F. (2000) Nephrocystin: Gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans. J. Am. Soc. Nephrol., 11, 270-282.
    • (2000) J. Am. Soc. Nephrol , vol.11 , pp. 270-282
    • Otto, E.1    Kispert, A.2    Schatzle, S.3    Lescher, B.4    Rensing, C.5    Hildebrandt, F.6
  • 13
    • 0028987936 scopus 로고
    • Integrins and signal transduction pathways: The road taken
    • Clark, E.A. and Brugge, J.S. (1995) Integrins and signal transduction pathways: The road taken. Science, 268, 233-239.
    • (1995) Science , vol.268 , pp. 233-239
    • Clark, E.A.1    Brugge, J.S.2
  • 14
    • 0034630157 scopus 로고    scopus 로고
    • Crk-associated substrate p130Cas interacts with nephrocystin and both proteins localized to cell-cell contacts of polarized epithelial cells
    • Donaldson, J.C., Dempsey, P.J., Reddy, S., Bouton, A.H., Coffey, R.J. and Hanks, S.K. (2000) Crk-associated substrate p130Cas interacts with nephrocystin and both proteins localized to cell-cell contacts of polarized epithelial cells. Exp. Cell. Res., 256, 168-178.
    • (2000) Exp. Cell. Res , vol.256 , pp. 168-178
    • Donaldson, J.C.1    Dempsey, P.J.2    Reddy, S.3    Bouton, A.H.4    Coffey, R.J.5    Hanks, S.K.6
  • 15
    • 0035859888 scopus 로고    scopus 로고
    • Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2
    • Benzing, T., Gerke, P., Hopker, K., Hildebrandt, F., Kim, E. and Walz, G. (2001) Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2. Proc. Natl. Acad. Sci. USA, 98, 9784-9789.
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 9784-9789
    • Benzing, T.1    Gerke, P.2    Hopker, K.3    Hildebrandt, F.4    Kim, E.5    Walz, G.6
  • 16
    • 0037047295 scopus 로고    scopus 로고
    • Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity
    • Donaldson, J.C., Dise, R.S., Ritchie, M.D. and Hariks, S.K. (2002) Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. J. Biol. Chem., 277, 29028-29035.
    • (2002) J. Biol. Chem , vol.277 , pp. 29028-29035
    • Donaldson, J.C.1    Dise, R.S.2    Ritchie, M.D.3    Hariks, S.K.4
  • 17
    • 0041592700 scopus 로고    scopus 로고
    • Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
    • Otto, E.A., Schermer, B., Obara, T., O'Toole, U., Hiller, K.S., Mueller, A.M., Ruf, R.G., Hoefele, J., Beekmann, F., Landau, D. et al. (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nature Genet., 34, 413-420.
    • (2003) Nature Genet , vol.34 , pp. 413-420
    • Otto, E.A.1    Schermer, B.2    Obara, T.3    O'Toole, U.4    Hiller, K.S.5    Mueller, A.M.6    Ruf, R.G.7    Hoefele, J.8    Beekmann, F.9    Landau, D.10
  • 18
    • 33846586935 scopus 로고    scopus 로고
    • Ectoplasmic specailization: A friend or a foe of spermatogenesis?
    • Yan, H.H.N., Mruk, D.D., Lee, W.M. and Cheng, C.Y. (2006) Ectoplasmic specailization: A friend or a foe of spermatogenesis? BioEssays, 29, 36-48.
    • (2006) BioEssays , vol.29 , pp. 36-48
    • Yan, H.H.N.1    Mruk, D.D.2    Lee, W.M.3    Cheng, C.Y.4
  • 19
    • 3242811705 scopus 로고    scopus 로고
    • Ectoplasmic specialization, a testis-specific cell-cell actin-bascd adherens junction type: Is this a potential target for male contraceptive development?
    • Lee, N.P.Y. and Cheng, C.Y. (2004) Ectoplasmic specialization, a testis-specific cell-cell actin-bascd adherens junction type: Is this a potential target for male contraceptive development? Hum. Reprod., 10, 349-369.
    • (2004) Hum. Reprod , vol.10 , pp. 349-369
    • Lee, N.P.Y.1    Cheng, C.Y.2
  • 20
    • 4644307425 scopus 로고    scopus 로고
    • Spermatid differentiation requires the assembly of a cell polarity complex downstream of junctional adhesion molecule-C
    • Gliki, G., Ebnet, K., Aumand-Lions, M., Imhof, B.A. and Adams, R.H. (2004) Spermatid differentiation requires the assembly of a cell polarity complex downstream of junctional adhesion molecule-C. Nature 431, 320-324.
    • (2004) Nature , vol.431 , pp. 320-324
    • Gliki, G.1    Ebnet, K.2    Aumand-Lions, M.3    Imhof, B.A.4    Adams, R.H.5
  • 22
    • 33745214011 scopus 로고    scopus 로고
    • Laminin α3 forms a complex with β3 and γ 3 chains that serves as the ligand for α6β1-integrin at the apical ectoplasmic specialization in adult rat testes
    • Yan, H.H.N. and Cheng, C.Y. (2006) Laminin α3 forms a complex with β3 and γ 3 chains that serves as the ligand for α6β1-integrin at the apical ectoplasmic specialization in adult rat testes. J. Biol. Chem. 281, 17286-17303.
    • (2006) J. Biol. Chem , vol.281 , pp. 17286-17303
    • Yan, H.H.N.1    Cheng, C.Y.2
  • 23
    • 0015255225 scopus 로고
    • Kinetics of spermatogenesis in mammals: Semiferous epithelium cycle and spermatogonial renewal
    • Clermont, Y. (1972) Kinetics of spermatogenesis in mammals: Semiferous epithelium cycle and spermatogonial renewal. Physiol. Rev., 52 198-236.
    • (1972) Physiol. Rev , vol.52 , pp. 198-236
    • Clermont, Y.1
  • 25
    • 0032504209 scopus 로고    scopus 로고
    • Human - Filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib
    • Takafuta, T., Wu, G., Murphy, G.F. and Shapiro, S.S. (1998) Human - Filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ib. J. Biol. Chem., 273, 17531-17538.
    • (1998) J. Biol. Chem , vol.273 , pp. 17531-17538
    • Takafuta, T.1    Wu, G.2    Murphy, G.F.3    Shapiro, S.S.4
  • 27
    • 0027990414 scopus 로고
    • A novel signaling molecule, p130, forms stable complexes in vivo with v-Crk and v-Src in a tyrosine phosphorylation-dependent manner
    • Sakai, R., Iwamatsu, A., Hirano, N., Ogawa, S., Tanaka, T., Mano, H., Yazaki, Y. and Hirai, H. (1994) A novel signaling molecule, p130, forms stable complexes in vivo with v-Crk and v-Src in a tyrosine phosphorylation-dependent manner. EMBO J., 13, 3748-3756.
    • (1994) EMBO J , vol.13 , pp. 3748-3756
    • Sakai, R.1    Iwamatsu, A.2    Hirano, N.3    Ogawa, S.4    Tanaka, T.5    Mano, H.6    Yazaki, Y.7    Hirai, H.8
  • 29
    • 0033941864 scopus 로고    scopus 로고
    • Characterization of the NPHP1 locus: Mutational involved in deletions in familial juvenile nephronophthisis
    • Saunier, S., Calado, J., Benessy, F., Silbermann, F., Heilig, R., Weigsenbach, J. and Antignac, C. (2000) Characterization of the NPHP1 locus: Mutational involved in deletions in familial juvenile nephronophthisis. Am. J. Hum. Genet., 66, 778-789.
    • (2000) Am. J. Hum. Genet , vol.66 , pp. 778-789
    • Saunier, S.1    Calado, J.2    Benessy, F.3    Silbermann, F.4    Heilig, R.5    Weigsenbach, J.6    Antignac, C.7
  • 30
    • 34249871086 scopus 로고    scopus 로고
    • Nephronophthisis-associated ciliopathies
    • Hildebrandt, F. and Zhou, W. (2007) Nephronophthisis-associated ciliopathies. J. Am. Soc. Nephrol., 18, 1855-1871.
    • (2007) J. Am. Soc. Nephrol , vol.18 , pp. 1855-1871
    • Hildebrandt, F.1    Zhou, W.2
  • 32
    • 14644403727 scopus 로고    scopus 로고
    • Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes
    • Mollet, G., Silbermann, F., Delous, M., Salomon, R., Antignac, C. and Saunier, S. (2005) Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum. Mol. Genet., 14, 645-656.
    • (2005) Hum. Mol. Genet , vol.14 , pp. 645-656
    • Mollet, G.1    Silbermann, F.2    Delous, M.3    Salomon, R.4    Antignac, C.5    Saunier, S.6
  • 33
    • 16244368744 scopus 로고    scopus 로고
    • Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors
    • Jauregui, A.R. and Barr, M.M. (2005) Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors. Exp. Cell. Res., 305, 333-342.
    • (2005) Exp. Cell. Res , vol.305 , pp. 333-342
    • Jauregui, A.R.1    Barr, M.M.2
  • 37
    • 0036366669 scopus 로고    scopus 로고
    • The mousetrap: What can learn when the mouse model does not mimic the human disease
    • Elsea, S.H. and Lucas, R.E. (2002) The mousetrap: What can learn when the mouse model does not mimic the human disease. ILAR. J., 43 66-79.
    • (2002) ILAR. J , vol.43 , pp. 66-79
    • Elsea, S.H.1    Lucas, R.E.2
  • 38
    • 0037288531 scopus 로고    scopus 로고
    • Sexual dysfunction in men and women with chronic kidney disease and end-stage kidney disease
    • Palmer, B.F. (2003) Sexual dysfunction in men and women with chronic kidney disease and end-stage kidney disease. Adv. Renal Rep. Therapy 10, 48-53.
    • (2003) Adv. Renal Rep. Therapy , vol.10 , pp. 48-53
    • Palmer, B.F.1
  • 40
    • 0018164979 scopus 로고
    • A comparison of hemodialysis and transplantation in reversing the uremic disturbance of male reproductive function
    • Holdsworth, S.R., de Kretser, D.M. and Atkins, R.C. (1978) A comparison of hemodialysis and transplantation in reversing the uremic disturbance of male reproductive function. Clin. Nephrol., 10, 146-150.
    • (1978) Clin. Nephrol , vol.10 , pp. 146-150
    • Holdsworth, S.R.1    de Kretser, D.M.2    Atkins, R.C.3
  • 45
    • 4544326417 scopus 로고    scopus 로고
    • Murine male germ cell apoptosis induced by busulfan treatment correlates with loss of c-kit-expression in a Fas/FasL- and p53-independent manner
    • Choi, Y.-J., Ok, D.-W., Kwon, D.-N., Chung, J.-I., Kim, H.-C., Yeo, S.-M., Kim, T., Seo, H.-G. and Kim, J.-H. (2004) Murine male germ cell apoptosis induced by busulfan treatment correlates with loss of c-kit-expression in a Fas/FasL- and p53-independent manner. FEBS Lett., 575, 41-51.
    • (2004) FEBS Lett , vol.575 , pp. 41-51
    • Choi, Y.-J.1    Ok, D.-W.2    Kwon, D.-N.3    Chung, J.-I.4    Kim, H.-C.5    Yeo, S.-M.6    Kim, T.7    Seo, H.-G.8    Kim, J.-H.9
  • 46
    • 0029150135 scopus 로고
    • Viability assessment of mammalian sperm using SYBR-14 and propidium iodide
    • Garner, D.L. and Johnson, L.A. (1995) Viability assessment of mammalian sperm using SYBR-14 and propidium iodide. Biol. Reprod., 53, 276-284.
    • (1995) Biol. Reprod , vol.53 , pp. 276-284
    • Garner, D.L.1    Johnson, L.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.