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Genetics Research International
Volume 2011, Article ID 368915, 4 pages
http://dx.doi.org/10.4061/2011/368915
Research Article

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families

1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tx 77030, USA
2Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad 45320, Pakistan

Received 30 May 2011; Accepted 1 August 2011

Academic Editor: Karen Friderici

Copyright © 2011 Kwanghyuk Lee et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. Hultcrantz, R. Simonoska, and A. E. Stenberg, “Estrogen and hearing: a summary of recent investigations,” Acta Oto-Laryngologica, vol. 126, no. 1, pp. 10–14, 2006. View at Publisher · View at Google Scholar · View at Scopus
  2. R. W. J. Collin, E. Kalay, M. Tariq et al., “Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35,” American Journal of Human Genetics, vol. 82, no. 1, pp. 125–138, 2008. View at Publisher · View at Google Scholar · View at Scopus
  3. J. R. O'Connell and D. E. Weeks, “PedCheck: a program for identification of genotype incompatibilities in linkage analysis,” American Journal of Human Genetics, vol. 63, no. 1, pp. 259–266, 1998. View at Publisher · View at Google Scholar · View at Scopus
  4. G. R. Abecasis, S. S. Cherny, W. O. Cookson, and L. R. Cardon, “Merlin—rapid analysis of dense genetic maps using sparse gene flow trees,” Nature Genetics, vol. 30, no. 1, pp. 97–101, 2002. View at Publisher · View at Google Scholar · View at Scopus
  5. R. W. Cottingham Jr., R. M. Idury, and A. A. Schaffer, “Faster sequential genetic linkage computations,” American Journal of Human Genetics, vol. 53, no. 1, pp. 252–263, 1993. View at Google Scholar · View at Scopus
  6. D. F. Gudbjartsson, K. Jonasson, M. L. Frigge, and A. Kong, “Allegro, a new computer program for multipoint linkage analysis,” Nature Genetics, vol. 25, no. 1, pp. 12–13, 2000. View at Publisher · View at Google Scholar · View at Scopus
  7. E. Sobel and K. Lange, “Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics,” American Journal of Human Genetics, vol. 58, no. 6, pp. 1323–1337, 1996. View at Google Scholar · View at Scopus
  8. T. C. Matise, F. Chen, W. Chen et al., “A second-generation combined linkage-physical map of the human genome,” Genome Research, vol. 17, no. 12, pp. 1783–1786, 2007. View at Publisher · View at Google Scholar · View at Scopus
  9. S. Rozen and H. Skaletsky, “Primer3 on the WWW for general users and for biologist programmers,” Methods in Molecular Biology, vol. 132, pp. 365–386, 2000. View at Google Scholar · View at Scopus
  10. A. Bairoch, B. Boeckmann, and S. Ferro, “Swiss-Prot: juggling between evolution and stability,” Briefings in Bioinformatics, vol. 5, no. 1, pp. 39–55, 2004. View at Google Scholar · View at Scopus
  11. S. F. Altschul, W. Gish, W. Miller, E. W. Myers, and D. J. Lipman, “Basic local alignment search tool,” Journal of Molecular Biology, vol. 215, no. 3, pp. 403–410, 1990. View at Publisher · View at Google Scholar · View at Scopus
  12. J. D. Thompson, D. G. Higgins, and T. J. Gibson, “CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice,” Nucleic Acids Research, vol. 22, no. 22, pp. 4673–4680, 1994. View at Google Scholar · View at Scopus
  13. K. Arnold, L. Bordoli, J. Kopp, and T. Schwede, “The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling,” Bioinformatics, vol. 22, no. 2, pp. 195–201, 2006. View at Publisher · View at Google Scholar · View at Scopus
  14. L. Wang, W. J. Zuercher, T. G. Consler et al., “X-ray crystal structures of the estrogen-related receptor-γ ligand binding domain in three functional states reveal the molecular basis of small molecule regulation,” Journal of Biological Chemistry, vol. 281, no. 49, pp. 37773–37781, 2006. View at Publisher · View at Google Scholar · View at Scopus
  15. V. Chandra, P. Huang, Y. Hamuro et al., “Structure of the intact PPAR-γ-RXR-α nuclear receptor complex on DNA,” Nature, vol. 456, no. 7220, pp. 350–356, 2008. View at Publisher · View at Google Scholar · View at Scopus
  16. M. A. Navas, E. J. Munoz-Elias, J. Kim, D. Shih, and M. Stoffel, “Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q),” Diabetes, vol. 48, no. 7, pp. 1459–1465, 1999. View at Publisher · View at Google Scholar
  17. J. M. Wurtz, U. Egner, N. Heinrich, D. Moras, and A. Mueller-Fahrnow, “Three-dimensional models of estrogen receptor ligand binding domain complexes, based on related crystal structures and mutational and structure- activity relationship data,” Journal of Medicinal Chemistry, vol. 41, no. 11, pp. 1803–1814, 1998. View at Publisher · View at Google Scholar · View at Scopus