Читать книгу Pathology of Genetically Engineered and Other Mutant Mice - Группа авторов - Страница 80

1 1 Sundberg, J.P., Roopenian, D.C., Liu, E.T., and Schofield, P.N. (2013). The Cinderella effect: searching for the best fit between mouse models and human diseases. J. Invest. Dermatol. 133 (11): 2509–2513.

2 2 Seok, J., Warren, H.S., Cuenca, A.G. et al. (2013). Genomic responses in mouse models poorly mimic human inflammatory diseases. Proc. Natl. Acad. Sci. U.S.A. 110 (9): 3507–3512.

3 3 Takao, K. and Miyakawa, T. (2015). Genomic responses in mouse models greatly mimic human inflammatory diseases. Proc. Natl. Acad. Sci. U.S.A. 112 (4): 1167–1172.

4 4 Shay, T., Lederer, J.A., and Benoist, C. (2015). Genomic responses to inflammation in mouse models mimic humans: we concur, apples to oranges comparisons won't do. Proc. Natl. Acad. Sci. U.S.A. 112 (4): E346.

5 5 Lu, Y.F., Goldstein, D.B., Angrist, M., and Cavalleri, G. (2014). Personalized medicine and human genetic diversity. Cold Spring Harb. Perspect. Med. 4 (9): a008581.

6 6 Selman, C. and Swindell, W.R. (2018). Putting a strain on diversity. EMBO J. 37 (22): e100862. https://doi.org/10.15252/embj.2018100862.

7 7 Threadgill, D.W., Dlugosz, A.A., Hansen, L.A. et al. (1995). Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. Science 269 (5221): 230–234.

8 8 Sibilia, M. and Wagner, E.F. (1995). Strain‐dependent epithelial defects in mice lacking the EGF receptor. Science 269 (5221): 234–238.

9 9 Bubier, J.A., Sproule, T.J., Alley, L.M. et al. (2010). A mouse model of generalized non‐Herlitz junctional epidermolysis bullosa. J. Invest. Dermatol. 130 (7): 1819–1828.

10 10 Sproule, T.J., Bubier, J.A., Grandi, F.C. et al. (2014). Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation‐induced junctional epidermolysis bullosa in mice. PLoS Genet. 10 (2): e1004068.

11 11 Scarpelli, D.G., Capen, C.C., Cork, L.C. et al. (1985). Animal models of human disease. In: (ed. G. Migaki), 302–321. Washington, DC: Armed Forces Institute of Pathology.

12 12 McElwee, K.J., Boggess, D., King, L.E. Jr., and Sundberg, J.P. (1998). Experimental induction of alopecia areata‐like hair loss in C3H/HeJ mice using full‐thickness skin grafts. J. Invest. Dermatol. 111 (5): 797–803.

13 13 Nishina, P.M., Verstuyft, J., and Paigen, B. (1990). Synthetic low and high fat diets for the study of atherosclerosis in the mouse. J. Lipid Res. 31 (5): 859–869.

14 14 Hudson, A., Trider, C.‐L., and Blake, K. (2017). CHARGE syndrome. Pediatr. Rev. 38 (1): 56.

15 15 Jongmans, M.C.J., Admiraal, R.J., van der Donk, K.P. et al. (2006). CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J. Med. Genet. 43 (4): 306–314.

16 16 Bosman, E.A., Penn, A.C., Ambrose, J.C. et al. (2005). Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum. Mol. Genet. 14 (22): 3463–3476.

17 17 van Ravenswaaij‐Arts, C. and Martin, D.M. (2017). New insights and advances in CHARGE syndrome: diagnosis, etiologies, treatments, and research discoveries. Am. J. Med. Genet. C Semin. Med. Genet. 175 (4): 397–406.

18 18 Gage, P.J., Hurd, E.A., and Martin, D.M. (2015). Mouse models for the dissection of CHD7 functions in eye development and the molecular basis for ocular defects in CHARGE syndrome. Invest. Ophthalmol. Vis. Sci. 56 (13): 7923–7930.

19 19 Lutzner, M.A., Lowrie, C.T., and Jordan, H.W. (1967). Giant granules in leukocytes of the beige mouse. J. Hered. 58 (6): 299–300.

20 20 Penner, J.D. and Prieur, D.J. (1987). A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak‐Higashi syndrome. Am. J. Med. Genet. 28 (2): 445–454.

21 21 Penner, J.D. and Prieur, D.J. (1987). Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chediak‐Higashi syndrome. Am. J. Med. Genet. 28 (2): 455–470.

22 22 Schofield, P.N., Vogel, P., Gkoutos, G.V., and Sundberg, J.P. (2012). Exploring the elephant: histopathology in high‐throughput phenotyping of mutant mice. Dis. Models Mech. 5 (1): 19–25.

23 23 Mezick, J.A., Bhatia, M.C., and Capetola, R.J. (1984). Topical and systemic effects of retinoids on horn‐filled utriculus size in the rhino mouse. A model to quantify “antikeratinizing” effects of retinoids. J. Invest. Dermatol. 83 (2): 110–113.

24 24 Ashton, R.E., Connor, M.J., and Lowe, N.J. (1984). Histologic changes in the skin of the rhino mouse (Hrrh/Hrrh) induced by retinoids. J. Invest. Dermatol. 82 (6): 632–635.

25 25 Bryce, G.F., Bogdan, N.J., and Brown, C.C. (1988). Retinoic acids promote the repair of the dermal damage and the effacement of wrinkles in the UVB‐irradiated hairless mouse. J. Invest. Dermatol. 91 (2): 175–180.

26 26 Kligman, L.H. (1989). Prevention and repair of photoaging: sunscreens and retinoids. Cutis 43 (5): 458–465.

27 27 Sundberg, J.P., Dunstan, R.W., and Compton, J.G. (1989). Hairless mouse, HRS/J hr/hr. In: Integument and Mammary Glands Monographs on Pathology of Laboratory Animals (eds. T.C. Jones, U. Mohr and R.D. Hunt), 192–197. Heidelberg: Springer‐Verlag.

28 28 Sundberg, J.P., Price, V.H., and King, L.E. Jr. (1999). The “hairless” gene in mouse and man. Arch. Dermatol. 135 (6): 718–720.

29 29 Ahmad, W., Faiyaz ul Haque, M., Brancolini, V. et al. (1998). Alopecia universalis associated with a mutation in the human hairless gene. Science 279 (5351): 720–724.

30 30 Ahmad, W., Irvine, A.D., Lam, H. et al. (1998). A missense mutation in the zinc‐finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am. J. Hum. Genet. 63 (4): 984–991.

31 31 Ahmad, W., Panteleyev, A.A., Henson‐Apollonio, V. et al. (1998). Molecular basis of a novel rhino (hrrhChr) phenotype: a nonsense mutation in the mouse hairless gene. Exp. Dermatol. 7 (5): 298–301.

32 32 Ahmad, W., Panteleyev, A.A., Sundberg, J.P., and Christiano, A.M. (1998). Molecular basis for the rhino (Hrrh‐8J) phenotype: a nonsense mutation in the mouse hairless gene. Genomics 53 (3): 383–386.

33 33 Panteleyev, A.A., Ahmad, W., Malashenko, A.M. et al. (1998). Molecular basis for the rhino Yurlovo (hr(rhY)) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene. Exp. Dermatol. 7 (5): 281–288.

34 34 Panteleyev, A.A., Paus, R., Ahmad, W. et al. (1998). Molecular and functional aspects of the hairless (Hr) gene in laboratory rodents and humans. Exp. Dermatol. 7 (5): 249–267.

35 35 Tuttle, A.H., Philip, V.M., Chesler, E.J., and Mogil, J.S. (2018). Comparing phenotypic variation between inbred and outbred mice. Nat. Methods 15 (12): 994–996.

36 36 McElwee, K.J., Niiyama, S., Freyschmidt‐Paul, P. et al. (2003). Dietary soy oil content and soy‐derived phytoestrogen genistein increase resistance to alopecia areata onset in C3H/HeJ mice. Exp. Dermatol. 12 (1): 30–36.

37 37 Ward, J.M. and Devor‐Henneman, D.E. (2004). Mouse models of human familial cancer syndromes. Toxicol. Pathol. 32 (Suppl 1): 90–98.

38 38 Kuperwasser, C., Hurlbut, G.D., Kittrell, F.S. et al. (2000). Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice. A model for Li‐Fraumeni syndrome. Am. J. Pathol. 157 (6): 2151–2159.

39 39 Sundberg, J.P. and Schofield, P.N. (2018). Living inside the box: environmental effects on mouse models of human disease. Dis. Models Mech. 11 (10): dmm035360. https://doi.org/10.1242/dmm.035360.

40 40 Sofaer, J.A. (1969). Aspects of the tabby‐crinkled‐downless syndrome. II. Observations on the reaction to changes of genetic background. J. Embryol. Exp. Morphol. 22 (2): 207–227.

41 41 Sofaer, J.A. (1969). Aspects of the tabby‐crinkled‐downless syndrome. I. The development of tabby teeth. J. Embryol. Exp. Morphol. 22 (2): 181–205.

42 42 Li, Q., Philip, V.M., Stearns, T.M. et al. (2019). Quantitative trait locus and integrative genomics revealed candidate modifier genes for ectopic mineralization in mouse models of pseudoxanthoma elasticum. J. Invest. Dermatol. 139 (12): 2447–2457.e7.

43 43 Montagutelli, X., Hogan, M.E., Aubin, G. et al. (1996). Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair. J. Invest. Dermatol. 107 (1): 20–25.

44 44 Sundberg, J.P., Boggess, D., Bascom, C. et al. (2000). Lanceolate hair‐J (lahJ): a mouse model for human hair disorders. Exp. Dermatol. 9 (3): 206–218.

45 45 Chavanas, S., Bodemer, C., Rochat, A. et al. (2000). Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat. Genet. 25 (2): 141–142.

46 46 Kljuic, A., Bazzi, H., Sundberg, J.P. et al. (2003). Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113 (2): 249–260.

47 47 Price, V.H., Odom, R.B., Ward, W.H., and Jones, F.T. (1980). Trichothiodystrophy: sulfur‐deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch. Dermatol. 116 (12): 1375–1384.

48 48 Gummer, C.L., Dawber, R.P., and Price, V.H. (1984). Trichothiodystrophy: an electron‐histochemical study of the hair shaft. Br. J. Dermatol. 110 (4): 439–449.

49 49 Metze, D. and Oji, V. (2020). Disorders of keratinization. In: McKee's Pathology of the Skin. 1., 5e (eds. E. Calonje, T. Brenn, A. Lazar and S.D. Billings), 53–117. China: Elsevier.

50 50 Mecklenburg, L., Paus, R., Halata, Z. et al. (2004). FOXN1 is critical for onycholemmal terminal differentiation in nude (Foxn1) mice. J. Invest. Dermatol. 123 (6): 1001–1011.

51 51 Davisson, M.T., Bergstrom, D.E., Reinholdt, L.G., and Donahue, L.R. (2012). Discovery genetics – the history and future of spontaneous mutation research. Curr. Protoc. Mouse Biol. 2: 103–118.

52 52 Probst, F.J. and Justice, M.J. (2010). Mouse mutagenesis with the chemical supermutagen ENU. Methods Enzymol. 477: 297–312.

53 53 Arnold, C.N., Barnes, M.J., Berger, M. et al. (2012). ENU‐induced phenovariance in mice: inferences from 587 mutations. BMC Res. Notes 5: 577.

54 54 Sabrautzki, S., Rubio‐Aliaga, I., Hans, W. et al. (2012). New mouse models for metabolic bone diseases generated by genome‐wide ENU mutagenesis. Mamm. Genome 23 (7‐8): 416–430.

55 55 Potter, P.K., Bowl, M.R., Jeyarajan, P. et al. (2016). Novel gene function revealed by mouse mutagenesis screens for models of age‐related disease. Nat. Commun. 7: 12444.

56 56 Wang, T., Bu, C.H., Hildebrand, S. et al. (2018). Probability of phenotypically detectable protein damage by ENU‐induced mutations in the Mutagenetix database. Nat. Commun. 9 (1): 441.

57 57 Fairfield, H., Srivastava, A., Ananda, G. et al. (2015). Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 25 (7): 948–957.

58 58 Palmer, K., Fairfield, H., Borgeia, S. et al. (2016). Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev. Biol. 415 (2): 216–227.

59 59 Andrews, T.D., Whittle, B., Field, M.A. 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 (5): 120061. https://doi.org/10.1098/rsob.120061.

60 60 Gondo, Y. (2008). Trends in large‐scale mouse mutagenesis: from genetics to functional genomics. Nat. Rev. Genet. 9 (10): 803–810.

61 61 Chang, H., Pan, Y., Landrette, S. et al. (2019). Efficient genome‐wide first‐generation phenotypic screening system in mice using the piggyBac transposon. Proc. Natl. Acad. Sci. U.S.A. 116 (37): 18507–18516.

62 62 Birling, M.C., Herault, Y., and Pavlovic, G. (2017). Modeling human disease in rodents by CRISPR/Cas9 genome editing. Mamm. Genome 28 (7‐8): 291–301.

63 63 Brehm, M.A., Wiles, M.V., Greiner, D.L., and Shultz, L.D. (2014). Generation of improved humanized mouse models for human infectious diseases. J. Immunol. Methods 410: 3–17.

64 64 Hosur, V., Low, B.E., Avery, C. et al. (2017). Development of humanized mice in the age of genome editing. J. Cell. Biochem. 118 (10): 3043–3048.

65 65 Low, B.E., Krebs, M.P., Joung, J.K. et al. (2014). Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN‐mediated homology‐directed repair. Invest. Ophthalmol. Vis. Sci. 55 (1): 387–395.

66 66 Brommage, R., Powell, D.R., and Vogel, P. (2019). Predicting human disease mutations and identifying drug targets from mouse gene knockout phenotyping campaigns. Dis. Models Mech. 12 (5).

67 67 Bradley, A., Anastassiadis, K., Ayadi, A. et al. (2012). The mammalian gene function resource: the International Knockout Mouse Consortium. Mamm. Genome 23 (9‐10): 580–586.

68 68 Meehan, T.F., Conte, N., West, D.B. et al. (2017). Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. Nat. Genet. 49 (8): 1231–1238.

69 69 Kaloff, C., Anastassiadis, K., Ayadi, A. et al. (2016). Genome wide conditional mouse knockout resources. Drug Discovery Today 20: 3–12.

70 70 Dickinson, M.E., Flenniken, A.M., Ji, X. et al. (2016). High‐throughput discovery of novel developmental phenotypes. Nature 537 (7621): 508–514.

71 71 Moore, B.A., Leonard, B.C., Sebbag, L. et al. (2018). Identification of genes required for eye development by high‐throughput screening of mouse knockouts. Commun. Biol. 1: 236.

72 72 Rozman, J., Rathkolb, B., Oestereicher, M.A. et al. (2018). Identification of genetic elements in metabolism by high‐throughput mouse phenotyping. Nat. Commun. 9 (1): 288.

73 73 Sundberg, J.P., Dadras, S.S., Silva, K.A. et al. (2017). Systematic screening for skin, hair, and nail abnormalities in a large‐scale knockout mouse program. PLoS One 12 (7): e0180682.

74 74 Smedley, D., Oellrich, A., Köhler, S. et al. (2013). PhenoDigm: analyzing curated annotations to associate animal models with human diseases. Database 2013: bat025. https://doi.org/10.1093/database/bat025.

75 75 Hoehndorf, R., Schofield, P.N., and Gkoutos, G.V. (2013). An integrative, translational approach to understanding rare and orphan genetically based diseases. Interface Focus 3 (2): 20120055.

76 76 Hoehndorf, R., Schofield, P.N., and Gkoutos, G.V. (2011). PhenomeNET: a whole‐phenome approach to disease gene discovery. Nucleic Acids Res. 39 (18): e119.

77 77 Klement, J.F., Matsuzaki, Y., Jiang, Q.J. et al. (2005). Targeted ablation of the Abcc6 gene results in ectopic mineralization of connective tissues. Mol. Cell. Biol. 25 (18): 8299–8310.

78 78 Gorgels, T.G., Hu, X., Scheffer, G.L. et al. (2005). Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum. Mol. Genet. 14 (13): 1763–1773.

79 79 Berndt, A., Li, Q., Potter, C.S. et al. (2013). A single‐nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum. J. Invest. Dermatol. 133 (3): 833–836.

80 80 Hawkes, J.E., Adalsteinsson, J.A., Gudjonsson, J.E., and Ward, N.L. (2018). Research techniques made simple: murine models of human psoriasis. J. Invest. Dermatol. 138 (1): e1–e8.

81 81 Jordan, C.T., Cao, L., Roberson, E.D. et al. (2012). Rare and common variants in CARD14, encoding an epidermal regulator of NF‐kappaB, in psoriasis. Am. J. Hum. Genet. 90 (5): 796–808.

82 82 Jordan, C.T., Cao, L., Roberson, E.D. et al. (2012). PSORS2 is due to mutations in CARD14. Am. J. Hum. Genet. 90 (5): 784–795.

83 83 Mellett, M., Meier, B., Mohanan, D. et al. (2018). CARD14 gain‐of‐function mutation alone is sufficient to drive IL‐23/IL‐17‐mediated psoriasiform skin inflammation in vivo. J. Invest. Dermatol. 138 (9): 2010–2023.

84 84 Wang, M., Zhang, S., Zheng, G. et al. (2018). Gain‐of‐function mutation of Card14 leads to spontaneous psoriasis‐like skin inflammation through enhanced keratinocyte response to IL‐17A. Immunity 49 (1): 66–79. e5.

85 85 Sundberg, J.P., Pratt, C.H., Silva, K.A. et al. (2019). Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity. Exp. Mol. Pathol. 110: 104286.

86 86 Threadgill, D.W. and Churchill, G.A. (2012). Ten years of the collaborative cross. G3 2 (2): 153–156.

87 87 Svenson, K.L., Gatti, D.M., Valdar, W. et al. (2012). High‐resolution genetic mapping using the Mouse Diversity outbred population. Genetics 190 (2): 437–447.

88 88 Schofield, P.N., Hoehndorf, R., and Gkoutos, G.V. (2012). Mouse genetic and phenotypic resources for human genetics. Hum. Mutat. 33 (5): 826–836.

89 89 Lehner, B. (2013). Genotype to phenotype: lessons from model organisms for human genetics. Nat. Rev. Genet. 14 (3): 168–178.

90 90 Cox, R.D. and Church, C.D. (2011). Mouse models and the interpretation of human GWAS in type 2 diabetes and obesity. Dis. Models Mech. 4 (2): 155–164.

91 91 Shultz, L.D., Keck, J., Burzenski, L. et al. (2019). Humanized mouse models of immunological diseases and precision medicine. Mamm. Genome 30 (5‐6): 123–142.

92 92 Bernards, R., Jaffee, E., Joyce, J.A. et al. (2020). A roadmap for the next decade in cancer research. Nat. Cancer. 1: 12–17.