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Volumn 8, Issue 3, 2013, Pages

Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease

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Indexed keywords

ETHYLNITROSOUREA;

EID: 84874574612     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0055429     Document Type: Article
Times cited : (14)

References (71)
  • 3
    • 0034161298 scopus 로고    scopus 로고
    • Finding the genes that direct mammalian development: ENU mutagenesis in the mouse
    • Anderson KV, (2000) Finding the genes that direct mammalian development: ENU mutagenesis in the mouse. Trends Genet. 16: 99-102.
    • (2000) Trends Genet , vol.16 , pp. 99-102
    • Anderson, K.V.1
  • 5
    • 34447550652 scopus 로고    scopus 로고
    • Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesis
    • Takahasi KR, Sakuraba Y, Gondo Y, (2007) Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesis. BMC Mol Biol. 8: 52.
    • (2007) BMC Mol Biol , vol.8 , pp. 52
    • Takahasi, K.R.1    Sakuraba, Y.2    Gondo, Y.3
  • 6
    • 78650772777 scopus 로고    scopus 로고
    • Random mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease
    • Nguyen N, Judd LM, Kalantzis A, Whittle B, Giraud AS, et al. (2011) Random mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease. Am J Physiol Gastrointest Liver Physiol. 300: G1-11.
    • (2011) Am J Physiol Gastrointest Liver Physiol , vol.300 , pp. 1-11
    • Nguyen, N.1    Judd, L.M.2    Kalantzis, A.3    Whittle, B.4    Giraud, A.S.5
  • 7
    • 84864232091 scopus 로고    scopus 로고
    • Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models
    • Andrews TD, Whittle B, Field MA, Balakishnan B, Zhang Y, et al. (2012) Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models. Open Biol 2: 120061.
    • (2012) Open Biol , vol.2 , pp. 120061
    • Andrews, T.D.1    Whittle, B.2    Field, M.A.3    Balakishnan, B.4    Zhang, Y.5
  • 8
    • 62549105821 scopus 로고    scopus 로고
    • Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy
    • Zhang Z, Alpert D, Francis R, Chatterjee B, Yu Q, et al. (2009) Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. Proc Natl Acad Sci U S A. 106: 3219-24.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 3219-3224
    • Zhang, Z.1    Alpert, D.2    Francis, R.3    Chatterjee, B.4    Yu, Q.5
  • 9
    • 84865107729 scopus 로고    scopus 로고
    • New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis
    • Sabrautzki S, Rubio-Aliaga I, Hans W, Fuchs H, Rathkolb B, et al. (2012) New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. Mamm Genome. 23: 416-30.
    • (2012) Mamm Genome , vol.23 , pp. 416-430
    • Sabrautzki, S.1    Rubio-Aliaga, I.2    Hans, W.3    Fuchs, H.4    Rathkolb, B.5
  • 10
    • 84864384202 scopus 로고    scopus 로고
    • Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse
    • Sun M, Mondal K, Patel V, Horner VL, Long AB, et al. (2012) Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse. G3 (Bethesda) 2: 143-50.
    • (2012) G3 (Bethesda) , vol.2 , pp. 143-150
    • Sun, M.1    Mondal, K.2    Patel, V.3    Horner, V.L.4    Long, A.B.5
  • 12
    • 1942508911 scopus 로고    scopus 로고
    • Mutations in a novel locus on mouse chromosome 11 resulting in male infertility associated with defects in microtubule assembly and sperm tail function
    • Clark AT, Firozi K, Justice MJ, (2004) Mutations in a novel locus on mouse chromosome 11 resulting in male infertility associated with defects in microtubule assembly and sperm tail function. Biol Reprod. 70: 1317-24.
    • (2004) Biol Reprod , vol.70 , pp. 1317-1324
    • Clark, A.T.1    Firozi, K.2    Justice, M.J.3
  • 14
    • 65349167830 scopus 로고    scopus 로고
    • A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines
    • Boles MK, Wilkinson BM, Maxwell A, Lai L, Mills AA, et al. (2009) A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines. BMC Genet. 10: 12.
    • (2009) BMC Genet , vol.10 , pp. 12
    • Boles, M.K.1    Wilkinson, B.M.2    Maxwell, A.3    Lai, L.4    Mills, A.A.5
  • 15
    • 78649455516 scopus 로고    scopus 로고
    • High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5
    • Ching YH, Munroe RJ, Moran JL, Barker AK, Mauceli E, et al. (2010) High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5. BMC Genet. 11: 106.
    • (2010) BMC Genet , vol.11 , pp. 106
    • Ching, Y.H.1    Munroe, R.J.2    Moran, J.L.3    Barker, A.K.4    Mauceli, E.5
  • 16
    • 70349173474 scopus 로고    scopus 로고
    • An essential gene mutagenesis screen across the highly conserved piebald deletion region of mouse chromosome 14
    • Hagarman JA, O'Brien TP, (2009) An essential gene mutagenesis screen across the highly conserved piebald deletion region of mouse chromosome 14. Genesis. 47: 392-403.
    • (2009) Genesis , vol.47 , pp. 392-403
    • Hagarman, J.A.1    O'Brien, T.P.2
  • 17
    • 24644469582 scopus 로고    scopus 로고
    • Dissecting the genetic complexity of human 6p deletion syndromes using a region-specific, phenotype-driven mouse screen
    • Bogani D, Willoughby C, Davies J, Kaur K, Mirza G, et al. (2005) Dissecting the genetic complexity of human 6p deletion syndromes using a region-specific, phenotype-driven mouse screen. Proc Natl Acad Sci U S A 102: 12477-12482.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 12477-12482
    • Bogani, D.1    Willoughby, C.2    Davies, J.3    Kaur, K.4    Mirza, G.5
  • 18
    • 52949144953 scopus 로고    scopus 로고
    • A Sox10 expression screen identifies an amino acid essential for Erbb3 function
    • Buac K, Watkins-Chow DE, Loftus SK, Larson DM, Incao A, et al. (2008) A Sox10 expression screen identifies an amino acid essential for Erbb3 function. PLoS Genet. 2008 4): e1000177.
    • (2008) PLoS Genet , vol.4
    • Buac, K.1    Watkins-Chow, D.E.2    Loftus, S.K.3    Larson, D.M.4    Incao, A.5
  • 19
    • 46249117044 scopus 로고    scopus 로고
    • A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy
    • Matera I, Watkins-Chow DE, Loftus SK, Hou L, Incao A, et al. (2008) A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet. 17: 2118-31.
    • (2008) Hum Mol Genet , vol.17 , pp. 2118-2131
    • Matera, I.1    Watkins-Chow, D.E.2    Loftus, S.K.3    Hou, L.4    Incao, A.5
  • 20
    • 79960140995 scopus 로고    scopus 로고
    • Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse
    • Stottmann RW, Moran JL, Turbe-Doan A, Driver E, Kelley M, et al. (2011) Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. Genetics. 188: 615-24.
    • (2011) Genetics , vol.188 , pp. 615-624
    • Stottmann, R.W.1    Moran, J.L.2    Turbe-Doan, A.3    Driver, E.4    Kelley, M.5
  • 21
    • 83055176525 scopus 로고    scopus 로고
    • Cytopenia induction by 5-fluorouracil identifies thrombopoietic mutants in sensitized ENU mutagenesis screens
    • Anderson NM, Berberovic Z, Berndl E, Bailey ML, Flenniken AM, et al. (2012) Cytopenia induction by 5-fluorouracil identifies thrombopoietic mutants in sensitized ENU mutagenesis screens. Exp Hematol. 40: 48-60.
    • (2012) Exp Hematol , vol.40 , pp. 48-60
    • Anderson, N.M.1    Berberovic, Z.2    Berndl, E.3    Bailey, M.L.4    Flenniken, A.M.5
  • 22
    • 7744241089 scopus 로고    scopus 로고
    • Towards a mutant map of the mouse-new models of neurological, behavioural, deafness, bone, renal and blood disorders
    • 9.23
    • Rastan S, Hough T, Kierman A, Hardisty R, Erven A, et al. (2004) Towards a mutant map of the mouse-new models of neurological, behavioural, deafness, bone, renal and blood disorders Genetica. 122: 47-9.23.
    • (2004) Genetica , vol.122 , pp. 47
    • Rastan, S.1    Hough, T.2    Kierman, A.3    Hardisty, R.4    Erven, A.5
  • 23
    • 34247898856 scopus 로고    scopus 로고
    • Screening for increased plasma urea levels in a large-scale ENU mouse mutagenesis project reveals kidney disease models
    • Aigner B, Rathkolb B, Herbach N, Kemter E, Schessl C, et al. (2007) Screening for increased plasma urea levels in a large-scale ENU mouse mutagenesis project reveals kidney disease models. Am J Physiol Renal Physiol. 292: F1560-7.
    • (2007) Am J Physiol Renal Physiol , vol.292
    • Aigner, B.1    Rathkolb, B.2    Herbach, N.3    Kemter, E.4    Schessl, C.5
  • 24
    • 33645288567 scopus 로고    scopus 로고
    • The use of genomewide ENU mutagenesis screens to unravel complex mammalian traits: identifying genes that regulate organ-specific and systemic autoimmunity
    • Hoyne GF, Goodnow CC, (2006) The use of genomewide ENU mutagenesis screens to unravel complex mammalian traits: identifying genes that regulate organ-specific and systemic autoimmunity. Immunol Rev. 210: 27-39.
    • (2006) Immunol Rev , vol.210 , pp. 27-39
    • Hoyne, G.F.1    Goodnow, C.C.2
  • 26
    • 0141567911 scopus 로고    scopus 로고
    • A genomewide screening of N-ethyl-N-nitrosourea-mutagenized mice for musculoskeletal phenotypes
    • Srivastava AK, Mohan S, Wergedal JE, Baylink DJ, (2003) A genomewide screening of N-ethyl-N-nitrosourea-mutagenized mice for musculoskeletal phenotypes. Bone. 33: 179-91.
    • (2003) Bone , vol.33 , pp. 179-191
    • Srivastava, A.K.1    Mohan, S.2    Wergedal, J.E.3    Baylink, D.J.4
  • 27
    • 84871964957 scopus 로고    scopus 로고
    • ENU mutagenesis identifies the first mouse mutants reproducing human β-thalassemia at the genomic level
    • [Epub ahead of print]
    • Brown FC, Scott N, Rank G, Collinge JE, Vadolas J,et al. (2012) ENU mutagenesis identifies the first mouse mutants reproducing human β-thalassemia at the genomic level. Blood Cells Mol Dis. 2012 [Epub ahead of print].
    • (2012) Blood Cells Mol Dis. 2012
    • Brown, F.C.1    Scott, N.2    Rank, G.3    Collinge, J.E.4    Vadolas, J.5
  • 28
    • 0032560518 scopus 로고    scopus 로고
    • A phenotype-based screen for embryonic lethal mutations in the mouse
    • Kasarskis A, Manova K, Anderson KV, (1998) A phenotype-based screen for embryonic lethal mutations in the mouse. Proc Natl Acad Sci U S A. 95: 7485-90.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 7485-7490
    • Kasarskis, A.1    Manova, K.2    Anderson, K.V.3
  • 29
    • 0036478946 scopus 로고    scopus 로고
    • Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis
    • Herron BJ, Lu W, Rao C, Liu S, Peters H, et al. (2002) Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet 30: 185-9.
    • (2002) Nat Genet , vol.30 , pp. 185-189
    • Herron, B.J.1    Lu, W.2    Rao, C.3    Liu, S.4    Peters, H.5
  • 31
    • 79955767052 scopus 로고    scopus 로고
    • An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions
    • 6
    • Wansleeben C, van Gurp L, Feitsma H, Kroon C, Rieter E, et al. (2011) An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions. PLoS One. 20116: e19357.
    • (2011) PLoS One , vol.2011
    • Wansleeben, C.1    van Gurp, L.2    Feitsma, H.3    Kroon, C.4    Rieter, E.5
  • 32
    • 79954605283 scopus 로고    scopus 로고
    • A Phenotype-Driven ENU Mutagenesis Screen Identifies Novel Alleles With Functional Roles in Early Mouse Craniofacial Development
    • Sandell LL, Iulianella A, Melton KR, Lynn M, Walker M, et al. (2011) A Phenotype-Driven ENU Mutagenesis Screen Identifies Novel Alleles With Functional Roles in Early Mouse Craniofacial Development. Genesis. 49: 342-359.
    • (2011) Genesis , vol.49 , pp. 342-359
    • Sandell, L.L.1    Iulianella, A.2    Melton, K.R.3    Lynn, M.4    Walker, M.5
  • 33
    • 19944426358 scopus 로고    scopus 로고
    • ENU induced mutations causing congenital cardiovascular anomalies
    • Yu Q, Shen Y, Chatterjee B, Siegfried BH, Leatherbury L, et al. (2004) ENU induced mutations causing congenital cardiovascular anomalies. Development. 131: 6211-23.
    • (2004) Development , vol.131 , pp. 6211-6223
    • Yu, Q.1    Shen, Y.2    Chatterjee, B.3    Siegfried, B.H.4    Leatherbury, L.5
  • 34
    • 61649114214 scopus 로고    scopus 로고
    • Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development
    • Ermakov A, Stevens JL, Whitehill E, Robson JE, Pieles G, et al. (2009) Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development. Dev Dyn. 238: 581-94.
    • (2009) Dev Dyn , vol.238 , pp. 581-594
    • Ermakov, A.1    Stevens, J.L.2    Whitehill, E.3    Robson, J.E.4    Pieles, G.5
  • 35
    • 27744516069 scopus 로고    scopus 로고
    • The genetics of Fraser syndrome and the blebs mouse mutants
    • Smyth I, Scambler P, (2005) The genetics of Fraser syndrome and the blebs mouse mutants. Hum Mol Genet 2: R269-74.
    • (2005) Hum Mol Genet , vol.2
    • Smyth, I.1    Scambler, P.2
  • 36
    • 84859260928 scopus 로고    scopus 로고
    • Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies
    • Ashe A, Butterfield NC, Town L, Courtney AD, Cooper AN, et al. (2012) Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. Human Molecular Genetics 21: 1808-1823.
    • (2012) Human Molecular Genetics , vol.21 , pp. 1808-1823
    • Ashe, A.1    Butterfield, N.C.2    Town, L.3    Courtney, A.D.4    Cooper, A.N.5
  • 37
    • 84864021901 scopus 로고    scopus 로고
    • The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking
    • Liem KF Jr, Ashe A, He M, Satir P, Moran J, et al. (2012) The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. The Journal of Cell Biology 197: 789-800.
    • (2012) The Journal of Cell Biology , vol.197 , pp. 789-800
    • Liem Jr., K.F.1    Ashe, A.2    He, M.3    Satir, P.4    Moran, J.5
  • 38
    • 58149326846 scopus 로고    scopus 로고
    • Chapter Two Intraflagellar Transport (IFT): Role in Ciliary Assembly, Resorption and Signalling
    • Pedersen LB, Rosenbaum JL (2008) Chapter Two Intraflagellar Transport (IFT): Role in Ciliary Assembly, Resorption and Signalling. Current Topics in Developmental Biology, 85, 23-61.
    • (2008) Current Topics in Developmental Biology , vol.85 , pp. 23-61
    • Pedersen, L.B.1    Rosenbaum, J.L.2
  • 39
    • 84859498001 scopus 로고    scopus 로고
    • Subunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteins
    • Behal RH, Miller MS, Qin H, Lucker BF, Jones A, et al. (2012) Subunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteins.J Biol Chem. 287: 11689-703.
    • (2012) J Biol Chem , vol.287 , pp. 11689-11703
    • Behal, R.H.1    Miller, M.S.2    Qin, H.3    Lucker, B.F.4    Jones, A.5
  • 40
    • 0030979027 scopus 로고    scopus 로고
    • Arrest in primitive erythroid cell development caused by promoter-specific disruption of the GATA-1 gene
    • Takahashi S, Onodera K, Motohashi H, Suwabe N, Hayashi N, et al. (1997) Arrest in primitive erythroid cell development caused by promoter-specific disruption of the GATA-1 gene. J Biol Chem 272: 12611-5.
    • (1997) J Biol Chem , vol.272 , pp. 12611-12615
    • Takahashi, S.1    Onodera, K.2    Motohashi, H.3    Suwabe, N.4    Hayashi, N.5
  • 41
    • 0032522474 scopus 로고    scopus 로고
    • Failure of megakaryopoiesis and arrested erythropoiesis in mice lacking the GATA-1 transcriptional cofactor FOG
    • Tsang AP, Fujiwara Y, Hom DB, Orkin SH, (1998) Failure of megakaryopoiesis and arrested erythropoiesis in mice lacking the GATA-1 transcriptional cofactor FOG. Genes Dev 12: 1176-88.
    • (1998) Genes Dev , vol.12 , pp. 1176-1188
    • Tsang, A.P.1    Fujiwara, Y.2    Hom, D.B.3    Orkin, S.H.4
  • 42
    • 9644289536 scopus 로고    scopus 로고
    • Human DNA ligase I completely encircles and partially unwinds nicked DNA
    • Pascal JM, O'Brien PJ, Tomkinson AE, Ellenberger T (2004) Human DNA ligase I completely encircles and partially unwinds nicked DNA. Nature, 432; 473-478.
    • (2004) Nature , vol.432 , pp. 473-478
    • Pascal, J.M.1    O'Brien, P.J.2    Tomkinson, A.E.3    Ellenberger, T.4
  • 43
    • 33846829951 scopus 로고    scopus 로고
    • Sex determination and gonadal development in mammals
    • Wilhelm D, Palmer S, Koopman P, (2007) Sex determination and gonadal development in mammals. Physiol Rev. 87: 1-28.
    • (2007) Physiol Rev , vol.87 , pp. 1-28
    • Wilhelm, D.1    Palmer, S.2    Koopman, P.3
  • 44
    • 70350650579 scopus 로고    scopus 로고
    • Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal
    • Munger SC, Aylor DL, Syed HA, Magwene PM, Threadgill DW,et al. (2009) Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal Genes Dev 23, 2521-2536.
    • (2009) Genes Dev , vol.23 , pp. 2521-2536
    • Munger, S.C.1    Aylor, D.L.2    Syed, H.A.3    Magwene, P.M.4    Threadgill, D.W.5
  • 45
    • 0036190135 scopus 로고    scopus 로고
    • Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT
    • Ichikawa I, Kuwayama F, Pope JC 4th, Stephens FD, Miyazaki Y, (2002) Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT. Kidney Int 61: 889-98.
    • (2002) Kidney Int , vol.61 , pp. 889-898
    • Ichikawa, I.1    Kuwayama, F.2    Pope 4th, J.C.3    Stephens, F.D.4    Miyazaki, Y.5
  • 46
    • 77955012920 scopus 로고    scopus 로고
    • Complications and long-term outcome of primary obstructive megaureter in childhood
    • Gimpel C, Masioniene L, Djakovic N, Schenk JP, Haberkorn U, et al. (2010) Complications and long-term outcome of primary obstructive megaureter in childhood. Pediatr Nephrol 25: 1679-86.
    • (2010) Pediatr Nephrol , vol.25 , pp. 1679-1686
    • Gimpel, C.1    Masioniene, L.2    Djakovic, N.3    Schenk, J.P.4    Haberkorn, U.5
  • 47
  • 48
    • 84942245493 scopus 로고    scopus 로고
    • Chapter 9: Role of physical, endocrine and growth factors in lung development
    • Ed. R. Harding, KE. Pinkerton & CG. Plopper. Elsevier Academic Press, London UK
    • Hooper SB, Wallace MJ (2004) Chapter 9: Role of physical, endocrine and growth factors in lung development. In: The Lung: Development, Aging and the Environment. Ed. R. Harding, KE. Pinkerton & CG. Plopper. Elsevier Academic Press, London UK. p131-148.
    • (2004) In: The Lung: Development, Aging and the Environment , pp. 131-148
    • Hooper, S.B.1    Wallace, M.J.2
  • 50
    • 0029088326 scopus 로고
    • Targeted disruption of the glucocorticoid receptor gene blocks adrenergic chromaffin cell development and severely retards lung maturation
    • Cole TJ, Blendy JA, Monaghan AP, Krieglstein K, Schmid W, et al. (1995) Targeted disruption of the glucocorticoid receptor gene blocks adrenergic chromaffin cell development and severely retards lung maturation. Genes Dev 9: 1608-1621.
    • (1995) Genes Dev , vol.9 , pp. 1608-1621
    • Cole, T.J.1    Blendy, J.A.2    Monaghan, A.P.3    Krieglstein, K.4    Schmid, W.5
  • 51
    • 33845253316 scopus 로고    scopus 로고
    • WHO, Craniofacial anomalies and associated birth defects; WHO registry meeting on craniofacial anomalies, Bauru, Brazil
    • WHO (2003) Global registry and database on craniofacial anomalies: Chapter2; Craniofacial anomalies and associated birth defects; WHO registry meeting on craniofacial anomalies, Bauru, Brazil.
    • (2003) Global registry and database on craniofacial anomalies: Chapter2
  • 52
    • 66149155070 scopus 로고    scopus 로고
    • Tulp3 is a critical repressor of mouse hedgehog signalling
    • Cameron DA, Pennimpede T, Petkovich M, (2009) Tulp3 is a critical repressor of mouse hedgehog signalling. Dev Dynamics 238: 1140-9.
    • (2009) Dev Dynamics , vol.238 , pp. 1140-1149
    • Cameron, D.A.1    Pennimpede, T.2    Petkovich, M.3
  • 53
    • 65449156373 scopus 로고    scopus 로고
    • Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway
    • Patterson VL, Damrau C, Paudyal A, Reeve B, Grimes DT, et al. (2009) Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway. Hum Mol Genet. 18: 1719-39.
    • (2009) Hum Mol Genet , vol.18 , pp. 1719-1739
    • Patterson, V.L.1    Damrau, C.2    Paudyal, A.3    Reeve, B.4    Grimes, D.T.5
  • 54
    • 0032695265 scopus 로고    scopus 로고
    • Mouse patched1 controls body size determination and limb patterning
    • Milenkovic L, Goodrich LV, Higgins KM, Scott MP, (1999) Mouse patched1 controls body size determination and limb patterning. Development. 126: 4431-40.
    • (1999) Development , vol.126 , pp. 4431-4440
    • Milenkovic, L.1    Goodrich, L.V.2    Higgins, K.M.3    Scott, M.P.4
  • 55
    • 84860774997 scopus 로고    scopus 로고
    • Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutants
    • Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, et al. (2012) Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutants. Am J Hum Genet. 90: 864-70.
    • (2012) Am J Hum Genet , vol.90 , pp. 864-870
    • Perrault, I.1    Saunier, S.2    Hanein, S.3    Filhol, E.4    Bizet, A.A.5
  • 56
    • 0038617716 scopus 로고    scopus 로고
    • Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice
    • Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, et al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat Genet 34: 209-14.
    • (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
  • 57
    • 0037872680 scopus 로고    scopus 로고
    • Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
    • 8.33
    • McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, et al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34: 203-8.33.
    • (2003) Nat Genet , vol.34 , pp. 203
    • McGregor, L.1    Makela, V.2    Darling, S.M.3    Vrontou, S.4    Chalepakis, G.5
  • 58
    • 0030016920 scopus 로고    scopus 로고
    • DNA ligase I is required for foetal liver erythropoiesis but is not essential for mammalian cell viability
    • Bentley DJ, Selfridge J, Millar JK, Samuel K, Hole N, et al. (1996) DNA ligase I is required for foetal liver erythropoiesis but is not essential for mammalian cell viability. Nat. Genet. 13: 489-491.
    • (1996) Nat. Genet , vol.13 , pp. 489-491
    • Bentley, D.J.1    Selfridge, J.2    Millar, J.K.3    Samuel, K.4    Hole, N.5
  • 59
    • 0026680743 scopus 로고
    • Mutations in the DNA ligase I gene in an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents
    • Barnes DE, Tomkinson AE, Lehmann AR, Webster ADB, Lindahl T (1992) Mutations in the DNA ligase I gene in an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. Cell 69, 495-504.
    • (1992) Cell , vol.69 , pp. 495-504
    • Barnes, D.E.1    Tomkinson, A.E.2    Lehmann, A.R.3    Webster, A.D.B.4    Lindahl, T.5
  • 60
    • 0026772876 scopus 로고
    • Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene
    • Webster AD, Barnes DE, Arlett CF, Lehmann AR, Lindahl T, (1992) Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet 339: 1508-9.
    • (1992) Lancet , vol.339 , pp. 1508-1509
    • Webster, A.D.1    Barnes, D.E.2    Arlett, C.F.3    Lehmann, A.R.4    Lindahl, T.5
  • 61
    • 0242660020 scopus 로고    scopus 로고
    • Ontogeny of congenital anomalies of the kidney and urinary tract, CAKUT
    • Miyazaki Y, Ishikawa I, (2003) Ontogeny of congenital anomalies of the kidney and urinary tract, CAKUT. Pediatr Int 45: 598-604.
    • (2003) Pediatr Int , vol.45 , pp. 598-604
    • Miyazaki, Y.1    Ishikawa, I.2
  • 64
    • 84861548193 scopus 로고    scopus 로고
    • Summarizing and correcting the GC content bias in high-throughput sequencing
    • Benjamini Y, Speed TP, (2012) Summarizing and correcting the GC content bias in high-throughput sequencing Nucleic Acids Research. 40: e72.
    • (2012) Nucleic Acids Research , vol.40
    • Benjamini, Y.1    Speed, T.P.2
  • 65
  • 66
    • 26444530096 scopus 로고    scopus 로고
    • Using genomewide mutagenesis screens to identify the genes required for neural tube closure in the mouse
    • Zohn IE, Anderson KV, Niswander L, (2005) Using genomewide mutagenesis screens to identify the genes required for neural tube closure in the mouse. Birth Defects Res A Clin Mol Teratol. 73: 583-90.
    • (2005) Birth Defects Res A Clin Mol Teratol , vol.73 , pp. 583-590
    • Zohn, I.E.1    Anderson, K.V.2    Niswander, L.3
  • 68
    • 34447128381 scopus 로고    scopus 로고
    • microMRI-HREM pipeline for high-throughput, high-resolution phenotyping of murine embryos
    • Pieles G, Geyer SH, Szumska D, Schneider J, Neubauer S, et al. (2007) microMRI-HREM pipeline for high-throughput, high-resolution phenotyping of murine embryos. J Anat. 211: 132-7.
    • (2007) J Anat , vol.211 , pp. 132-137
    • Pieles, G.1    Geyer, S.H.2    Szumska, D.3    Schneider, J.4    Neubauer, S.5
  • 69
    • 0022369586 scopus 로고
    • Dose-repetition increases the mutagenic effectiveness of N-ethyl-N-nitrosourea in mouse spermatogonia
    • Hitotsumachi S, Carpenter DA, Russell WL, (1985) Dose-repetition increases the mutagenic effectiveness of N-ethyl-N-nitrosourea in mouse spermatogonia. Proc Natl Acad Sci USA 82: 6619-6621.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 6619-6621
    • Hitotsumachi, S.1    Carpenter, D.A.2    Russell, W.L.3
  • 70
    • 30344475256 scopus 로고    scopus 로고
    • Homozygous inactivation of Sox9 causes complete XY sex reversal in mice
    • Barrionuevo F, Bagheri-Fam S, Klattig J, Kist R, Taketo MM, et al. (2006) Homozygous inactivation of Sox9 causes complete XY sex reversal in mice. Biol Reprod. 74(1): 195-201.
    • (2006) Biol Reprod , vol.74 , Issue.1 , pp. 195-201
    • Barrionuevo, F.1    Bagheri-Fam, S.2    Klattig, J.3    Kist, R.4    Taketo, M.M.5
  • 71
    • 79956035605 scopus 로고    scopus 로고
    • Defective survivial of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome
    • Bagheri-Fam S, Argentaro A, Svingen T, Combes AN, Sinclair AH, et al. (2011) Defective survivial of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome. Hum Mol Genet. 20: 2213-24.
    • (2011) Hum Mol Genet , vol.20 , pp. 2213-2224
    • Bagheri-Fam, S.1    Argentaro, A.2    Svingen, T.3    Combes, A.N.4    Sinclair, A.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.