-
1
-
-
84866183226
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|