New recurrent large deletion, encompassing both GJB2 and GB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive mode of inheritance
暂无分享,去创建一个
[1] P. Avan,et al. Hearing Is Normal without Connexin30 , 2013, The Journal of Neuroscience.
[2] A. Polyakov,et al. Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia , 2012, Russian Journal of Genetics.
[3] R. Zinchenko,et al. Hereditary deafness in Kirov oblast: Estimation of the incidence rate and DNA diagnosis in children , 2012, Russian Journal of Genetics.
[4] Shoeb Ahmad,et al. Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions. , 2012, Biochemical and biophysical research communications.
[5] A. Polyakov,et al. Changes in the connexin 26 gene (GJB2) in Russian patients with hearing loss: Results of long-term molecular diagnostics of hereditary nonsyndromic hearing loss , 2012, Russian Journal of Genetics.
[6] I. Schrijver,et al. Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854) , 2011, PloS one.
[7] A. Pandya,et al. A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expression , 2010, Clinical genetics.
[8] I. Schrijver,et al. The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. , 2009, Biochemical and biophysical research communications.
[9] F. Denoyelle,et al. A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. , 2009, European journal of medical genetics.
[10] Mei Zhu,et al. Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. , 2006, American journal of human genetics.
[11] J. Common,et al. Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6‐D13S1830) , 2005, Clinical and experimental dermatology.
[12] A. Elgoyhen,et al. Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients , 2005, Hearing Research.
[13] A. Pandya,et al. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment , 2005, Journal of Medical Genetics.
[14] X. Estivill,et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. , 2003, American journal of human genetics.
[15] Xi Lin,et al. Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. , 2003, Biochemical and biophysical research communications.
[16] A. Murgia,et al. A novel DFNB 1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB 2 and GJB 6 expression , 2010 .
[17] E. Khusnutdinova,et al. [Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)]. , 2008, Vestnik otorinolaringologii.