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Literature DB >> 8516844

Animal models of human genetic diseases.

Abstract

Gene targeting in cultured embryonic stem cells permits the generation of mice with a desired alteration in a chosen target gene. Application of this procedure to create mouse models of human diseases is revealing the innate complexity of diseases normally ascribed to single gene defects. Modeling human diseases that are known to be multigenic in origin and are markedly influenced by environmental factors is potentially even more revealing.

Entities: Disease Species

Mesh：

Year: 1993 PMID： 8516844 DOI： 10.1016/0168-9525(93)90204-u

Source DB: PubMed Journal: Trends Genet ISSN： 0168-9525 Impact factor: 11.639

Keyword Cloud
Cited

20 in total

Review 1. Advanced transgenic and gene-targeting approaches.

Authors: X Gao; A Kemper; B Popko
Journal: Neurochem Res Date: 1999-09 Impact factor: 3.996

2. The chromosome make-up of mouse embryonic stem cells is predictive of somatic and germ cell chimaerism.

Authors: L Longo; A Bygrave; F G Grosveld; P P Pandolfi
Journal: Transgenic Res Date: 1997-09 Impact factor: 2.788

3. Tenascin-C expression in normal, inflamed, and scarred human corneas.

Authors: H Maseruka; R E Bonshek; A B Tullo
Journal: Br J Ophthalmol Date: 1997-08 Impact factor: 4.638

4. Cytoarchitectural and metabolic adaptations in muscles with mitochondrial and cytosolic creatine kinase deficiencies.

Authors: K Steeghs; F Oerlemans; A de Haan; A Heerschap; L Verdoodt; M de Bie; W Ruitenbeek; A Benders; C Jost; J van Deursen; P Tullson; R Terjung; P Jap; W Jacob; D Pette; B Wieringa
Journal: Mol Cell Biochem Date: 1998-07 Impact factor: 3.396

5. Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence.

Authors: Wei Chen; Shuying Yang; Yoke Abe; Ming Li; Yucheng Wang; Jianzhong Shao; En Li; Yi-Ping Li
Journal: Hum Mol Genet Date: 2007-01-08 Impact factor: 6.150

6. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

Authors: P A Jänne; S F Suchy; D Bernard; M MacDonald; J Crawley; A Grinberg; A Wynshaw-Boris; H Westphal; R L Nussbaum
Journal: J Clin Invest Date: 1998-05-15 Impact factor: 14.808

Animal models of human genetic diseases.

Review 1. Advanced transgenic and gene-targeting approaches.

2. The chromosome make-up of mouse embryonic stem cells is predictive of somatic and germ cell chimaerism.

3. Tenascin-C expression in normal, inflamed, and scarred human corneas.

4. Cytoarchitectural and metabolic adaptations in muscles with mitochondrial and cytosolic creatine kinase deficiencies.

5. Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence.

6. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

7. The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse chromosome 7.

8. A large database of chicken bursal ESTs as a resource for the analysis of vertebrate gene function.

Review 9. Molecular genetics of neurofibromatosis type 1 (NF1).

10. Spermatogenesis following male germ-cell transplantation.