메뉴 건너뛰기




Volumn 7, Issue , 2016, Pages

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

(53)  Potter, Paul K a   Bowl, Michael R a   Jeyarajan, Prashanthini a   Wisby, Laura a   Blease, Andrew a   Goldsworthy, Michelle E a   Simon, Michelle M a   Greenaway, Simon a   Michel, Vincent b   Barnard, Alun c   Aguilar, Carlos a   Agnew, Thomas a   Banks, Gareth a   Blake, Andrew a   Chessum, Lauren a   Dorning, Joanne a   Falcone, Sara a   Goosey, Laurence a   Harris, Shelley a   Haynes, Andy a   more..


Author keywords

[No Author keywords available]

Indexed keywords

ETHYLNITROSOUREA; SOLUTE CARRIER FAMILY 4; SOLUTE CARRIER FAMILY 4 SODIUM BICARBONATE TRANSPORTER MEMBER 10; UNCLASSIFIED DRUG;

EID: 84983239176     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms12444     Document Type: Article
Times cited : (70)

References (40)
  • 1
    • 84866183226 scopus 로고    scopus 로고
    • Ageing as a risk factor for disease
    • Niccoli, T. & Partridge, L. Ageing as a risk factor for disease. Curr. Biol. 22, R741-R752 (2012).
    • (2012) Curr. Biol , vol.22 , pp. R741-R752
    • Niccoli, T.1    Partridge, L.2
  • 2
    • 0034425410 scopus 로고    scopus 로고
    • A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse
    • Nolan, P. M. et al. A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nat. Genet. 25, 440-443 (2000).
    • (2000) Nat. Genet , vol.25 , pp. 440-443
    • Nolan, P.M.1
  • 3
    • 0034425715 scopus 로고    scopus 로고
    • Genome-wide, large-scale production of mutant mice by ENU mutagenesis
    • Hrabe de Angelis, M. H. et al. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat. Genet. 25, 444-447 (2000).
    • (2000) Nat. Genet , vol.25 , pp. 444-447
    • Hrabe De Angelis, M.H.1
  • 4
    • 52949150758 scopus 로고    scopus 로고
    • ENU mutagenesis, a way forward to understand gene function
    • Acevedo-Arozena, A. et al. ENU mutagenesis, a way forward to understand gene function. Annu. Rev. Genomics Hum. Genet. 9, 49-69 (2008).
    • (2008) Annu. Rev. Genomics Hum. Genet , vol.9 , pp. 49-69
    • Acevedo-Arozena, A.1
  • 5
    • 84873500380 scopus 로고    scopus 로고
    • Unlocking the bottleneck in forward genetics using wholegenome sequencing and identity by descent to isolate causative mutations
    • Bull, K. R. et al. Unlocking the bottleneck in forward genetics using wholegenome sequencing and identity by descent to isolate causative mutations. PLoS Genet. 9, e1003219 (2013).
    • (2013) PLoS Genet , vol.9 , pp. e1003219
    • Bull, K.R.1
  • 6
    • 84922219314 scopus 로고    scopus 로고
    • Real-Time resolution of point mutations that cause phenovariance in mice
    • Wang, T. et al. Real-Time resolution of point mutations that cause phenovariance in mice. Proc. Natl Acad. Sci. USA 112, E440-E449 (2015).
    • (2015) Proc. Natl Acad. Sci. USA , vol.112 , pp. E440-E449
    • Wang, T.1
  • 7
    • 33748325753 scopus 로고    scopus 로고
    • ENU-mutagenesis: Insight into immune function and pathology
    • Cook, M. C., Vinuesa, C. G. & Goodnow, C. C. ENU-mutagenesis: insight into immune function and pathology. Curr. Opin. Immunol. 18, 627-633 (2006).
    • (2006) Curr. Opin. Immunol , Issue.18 , pp. 627-633
    • Cook, M.C.1    Vinuesa, C.G.2    Goodnow, C.C.3
  • 8
    • 41349100214 scopus 로고    scopus 로고
    • Forward genetic analysis of TLR-signaling pathways: An evaluation
    • Hoebe, K. & Beutler, B. Forward genetic analysis of TLR-signaling pathways: An evaluation. Adv. Drug Deliv. Rev. 60, 824-829 (2008).
    • (2008) Adv. Drug Deliv. Rev , vol.60 , pp. 824-829
    • Hoebe, K.1    Beutler, B.2
  • 9
    • 77953507107 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in disease and aging
    • Wallace, D. C. Mitochondrial DNA mutations in disease and aging. Environ. Mol. Mutagen 51, 440-450 (2010).
    • (2010) Environ. Mol. Mutagen , vol.51 , pp. 440-450
    • Wallace, D.C.1
  • 10
    • 84925283137 scopus 로고    scopus 로고
    • Physiological and pathological consequences of cellular senescence
    • Burton, D. G. & Krizhanovsky, V. Physiological and pathological consequences of cellular senescence. Cell. Mol. Life Sci. 71, 4373-4386 (2014).
    • (2014) Cell. Mol. Life Sci , vol.71 , pp. 4373-4386
    • Burton, D.G.1    Krizhanovsky, V.2
  • 11
    • 52049125697 scopus 로고    scopus 로고
    • Sighted C3H mice-A tool for analysing the influence of vision on mouse behaviour?
    • Hoelter, S. M. et al. Sighted C3H mice-A tool for analysing the influence of vision on mouse behaviour? Front. Biosci. 13, 5810-5823 (2008).
    • (2008) Front Biosci , vol.13 , pp. 5810-5823
    • Hoelter, S.M.1
  • 12
    • 33745586553 scopus 로고    scopus 로고
    • Strain background effects and genetic modifiers of hearing in mice
    • Johnson, K. R., Zheng, Q. Y. & Noben-Trauth, K. Strain background effects and genetic modifiers of hearing in mice. Brain Res. 1091, 79-88 (2006).
    • (2006) Brain Res , vol.1091 , pp. 79-88
    • Johnson, K.R.1    Zheng, Q.Y.2    Noben-Trauth, K.3
  • 13
    • 84867337003 scopus 로고    scopus 로고
    • The International Mouse Phenotyping Consortium: Past and future perspectives on mouse phenotyping
    • Brown, S. D. & Moore, M. W. The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping. Mamm. Genome 23, 632-640 (2012).
    • (2012) Mamm. Genome , vol.23 , pp. 632-640
    • Brown, S.D.1    Moore, M.W.2
  • 14
    • 0034650304 scopus 로고    scopus 로고
    • Defective glomerulogenesis in the absence of laminin alpha5 demonstrates a developmental role for the kidney glomerular basement membrane
    • Miner, J. H. & Li, C. Defective glomerulogenesis in the absence of laminin alpha5 demonstrates a developmental role for the kidney glomerular basement membrane. Dev. Biol. 217, 278-289 (2000).
    • (2000) Dev. Biol , vol.217 , pp. 278-289
    • Miner, J.H.1    Li, C.2
  • 15
    • 33745866295 scopus 로고    scopus 로고
    • A hypomorphic mutation in the mouse laminin alpha5 gene causes polycystic kidney disease
    • Shannon, M. B., Patton, B. L., Harvey, S. J. & Miner, J. H. A hypomorphic mutation in the mouse laminin alpha5 gene causes polycystic kidney disease. J. Am. Soc. Nephrol. 17, 1913-1922 (2006).
    • (2006) J. Am. Soc. Nephrol , vol.17 , pp. 1913-1922
    • Shannon, M.B.1    Patton, B.L.2    Harvey, S.J.3    Miner, J.H.4
  • 16
    • 84885403082 scopus 로고    scopus 로고
    • Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria
    • Chatterjee, R. et al. Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria. PLoS ONE 8, e76360 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e76360
    • Chatterjee, R.1
  • 17
    • 0030917155 scopus 로고    scopus 로고
    • Dwarfism and age-Associated spinal degeneration of heterozygote cmd mice defective in aggrecan
    • Watanabe, H., Nakata, K., Kimata, K., Nakanishi, I. & Yamada, Y. Dwarfism and age-Associated spinal degeneration of heterozygote cmd mice defective in aggrecan. Proc. Natl Acad. Sci. USA 94, 6943-6947 (1997).
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 6943-6947
    • Watanabe, H.1    Nakata, K.2    Kimata, K.3    Nakanishi, I.4    Yamada, Y.5
  • 18
    • 0028225528 scopus 로고
    • Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene
    • Watanabe, H. et al. Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene. Nat. Genet. 7, 154-157 (1994).
    • (1994) Nat. Genet , vol.7 , pp. 154-157
    • Watanabe, H.1
  • 19
    • 23944438868 scopus 로고    scopus 로고
    • A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis
    • Gleghorn, L., Ramesar, R., Beighton, P. & Wallis, G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am. J. Hum. Genet. 77, 484-490 (2005).
    • (2005) Am. J. Hum. Genet , vol.77 , pp. 484-490
    • Gleghorn, L.1    Ramesar, R.2    Beighton, P.3    Wallis, G.4
  • 20
    • 76049108551 scopus 로고    scopus 로고
    • A missense mutation in the aggrecan C-Type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans
    • Stattin, E. L. et al. A missense mutation in the aggrecan C-Type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am. J. Hum. Genet. 86, 126-137 (2010).
    • (2010) Am. J. Hum. Genet , vol.86 , pp. 126-137
    • Stattin, E.L.1
  • 21
    • 33750833435 scopus 로고    scopus 로고
    • Expression of aggrecan(ases) during murine preadipocyte differentiation and adipose tissue development
    • Voros, G., Sandy, J. D., Collen, D. & Lijnen, H. R. Expression of aggrecan(ases) during murine preadipocyte differentiation and adipose tissue development. Biochim. Biophys. Acta 1760, 1837-1844 (2006).
    • (2006) Biochim. Biophys. Acta , vol.1760 , pp. 1837-1844
    • Voros, G.1    Sandy, J.D.2    Collen, D.3    Lijnen, H.R.4
  • 22
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei, I. A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
    • (2010) Nat. Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 23
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar, P., Henikoff, S. & Ng, P. C. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073-1081 (2009).
    • (2009) Nat. Protoc , Issue.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 24
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz, J. M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575-576 (2010).
    • (2010) Nat. Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 25
    • 84867283236 scopus 로고    scopus 로고
    • Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina
    • Hilgen, G. et al. Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina. PLoS ONE 7, e46155 (2012).
    • (2012) PLoS ONE , vol.7 , pp. e46155
    • Hilgen, G.1
  • 26
    • 38349190204 scopus 로고    scopus 로고
    • Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability
    • Jacobs, S. et al. Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability. Proc. Natl Acad. Sci. USA 105, 311-316 (2008).
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 311-316
    • Jacobs, S.1
  • 27
    • 0038081173 scopus 로고    scopus 로고
    • Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3
    • Bok, D. et al. Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3. Nat. Genet. 34, 313-319 (2003).
    • (2003) Nat. Genet , vol.34 , pp. 313-319
    • Bok, D.1
  • 30
    • 4644346915 scopus 로고    scopus 로고
    • Age-related hearing loss: The status of Schuknechts typology
    • Ohlemiller, K. K. Age-related hearing loss: The status of Schuknechts typology. Curr. Opin. Otolaryngol. Head Neck Surg. 12, 439-443 (2004).
    • (2004) Curr. Opin. Otolaryngol. Head Neck Surg , vol.12 , pp. 439-443
    • Ohlemiller, K.K.1
  • 31
    • 84876535364 scopus 로고    scopus 로고
    • Understanding immunosenescence to improve responses to vaccines
    • Goronzy, J. J. & Weyand, C. M. Understanding immunosenescence to improve responses to vaccines. Nat. Immunol. 14, 428-436 (2013).
    • (2013) Nat. Immunol , Issue.14 , pp. 428-436
    • Goronzy, J.J.1    Weyand, C.M.2
  • 32
    • 34548379435 scopus 로고    scopus 로고
    • The significance of mitochondrial toxicity testing in drug development
    • Dykens, J. A. & Will, Y. The significance of mitochondrial toxicity testing in drug development. Drug Discov Today 12, 777-785 (2007).
    • (2007) Drug Discov Today , vol.12 , pp. 777-785
    • Dykens, J.A.1    Will, Y.2
  • 33
    • 84856618049 scopus 로고    scopus 로고
    • Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice
    • Kane, K. L. et al. Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice. Hear. Res. 283, 80-88 (2012).
    • (2012) Hear. Res , vol.283 , pp. 80-88
    • Kane, K.L.1
  • 34
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 35
    • 80052851950 scopus 로고    scopus 로고
    • Mouse genomic variation and its effect on phenotypes and gene regulation
    • Keane, T. M. et al. Mouse genomic variation and its effect on phenotypes and gene regulation. Nature 477, 289-294 (2011).
    • (2011) Nature , vol.477 , pp. 289-294
    • Keane, T.M.1
  • 36
    • 79961182320 scopus 로고    scopus 로고
    • In-depth annotation of SNPs arising from resequencing projects using NGS-SNP
    • Grant, J. R., Arantes, A. S., Liao, X. & Stothard, P. In-depth annotation of SNPs arising from resequencing projects using NGS-SNP. Bioinformatics 27, 2300-2301 (2011).
    • (2011) Bioinformatics , vol.27 , pp. 2300-2301
    • Grant, J.R.1    Arantes, A.S.2    Liao, X.3    Stothard, P.4
  • 37
    • 0021014077 scopus 로고
    • The theory of reference values Part 5. Statistical treatment of collected reference values. Determination of reference limits
    • Solberg, H. E. The theory of reference values Part 5. Statistical treatment of collected reference values. Determination of reference limits. J. Clin. Chem. Clin. Biochem. 21, 749-760 (1983).
    • (1983) J. Clin. Chem. Clin. Biochem , vol.21 , pp. 749-760
    • Solberg, H.E.1
  • 38
    • 0017868523 scopus 로고
    • A technique for preparation of cochlear specimens for assessment with the scanning electron microscope
    • Hunter-Duvar, I. M. A technique for preparation of cochlear specimens for assessment with the scanning electron microscope. Acta Otolaryngol. Suppl. 351, 3-23 (1978).
    • (1978) Acta Otolaryngol. Suppl , vol.351 , pp. 3-23
    • Hunter-Duvar, I.M.1
  • 39
    • 84892868349 scopus 로고    scopus 로고
    • Vesicular stomatitis virus glycoprotein-And Venezuelan equine encephalitis virus-derived glycoprotein-pseudotyped lentivirus vectors differentially transduce corneal endothelium, trabecular meshwork, and human photoreceptors
    • Lipinski, D. M. et al. Vesicular stomatitis virus glycoprotein-And Venezuelan equine encephalitis virus-derived glycoprotein-pseudotyped lentivirus vectors differentially transduce corneal endothelium, trabecular meshwork, and human photoreceptors. Hum. Gene Ther. 25, 50-62 (2014).
    • (2014) Hum. Gene Ther , vol.25 , pp. 50-62
    • Lipinski, D.M.1
  • 40
    • 12244300886 scopus 로고    scopus 로고
    • Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
    • Teubner, B. et al. Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum. Mol. Genet. 12, 13-21 (2003).
    • (2003) Hum. Mol. Genet , vol.12 , pp. 13-21
    • Teubner, B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.