Conflict of interest: none.
Confirmation of GRHL2 as the gene for the DFNA28 locus
Version of Record online: 27 JUN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 2060–2065, August 2013
How to Cite
2013. Confirmation of GRHL2 as the gene for the DFNA28 locus. Am J Med Genet Part A. 161A:2060–2065., , , , .
- Issue online: 24 JUL 2013
- Version of Record online: 27 JUN 2013
- Manuscript Accepted: 14 APR 2013
- Manuscript Received: 14 FEB 2013
- German Research Foundation. Grant Number: HA 1374/7-2
- 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248–249. , , , , , , , .
- 2004. Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: Maximum entropy estimates of splice junction strengths. Hum Mutat 23:67–76. , , , , , , , , .
- 2000. Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders. J Inherit Metab Dis 23:441–447. , , , , .
- 2011. Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28. Hum Mol Genet 20:3213–3226. , , , , , , , , , , .
- 2010. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet 6:e1001154. , , , .
- 2001. Predicting deleterious amino acid substitutions. Genome Res 11:863–874. , .
- 2002. Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. Hum Mol Genet 11:2877–2885. , , , , , , , .
- R Development Core Team. 2012. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing.
- 2010. Regional neural tube closure defined by the grainy head-like transcription factors. Dev Biol 345:237–245. , , , , , , , .
- 2008. Lattice: Multivariate data visualization with R. New York: Springer. .
- 2002. Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway. Genome Biol 3: Reviews1006.1-1006.6. , , .
- 2010. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575–576. , , , .
- 2011. Efficient internal exon recognition depends on near equal contributions of the 3′ and 5′ splice sites. Nucleic Acids Res 39:8928–8937. , , , .
- 2012. Hereditary hearing loss homepage. http://hereditaryhearingloss.org/. , .
- 2008. The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. Hum Mol Genet 17:159–169. , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , .
- 2010. The transcription factor grainyhead-like 2 regulates the molecular composition of the epithelial junctional complex. Development 137:3835–3845. , , , , , , , , , , , , , .
- 2002. A highly conserved novel family of mammalian developmental transcription factors related to Drosophila grainyhead. Mech Dev 114:37–50. , , , , , , , .
- 2003. Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J Biol Chem 278:53007–53016. , , , , , .
- 2004. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377–394. , .