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| Barboza Jr.,L.C.M.; Lezirovitz,K.; Zanatta,D.B.; Strauss,B.E.; Mingroni-Netto,R.C.; Oiticica,J.; Haddad,L.A.; Bento,R.F.. |
| In mammals, damage to sensory receptor cells (hair cells) of the inner ear results in permanent sensorineural hearing loss. Here, we investigated whether postnatal mouse inner ear progenitor/stem cells (mIESCs) are viable after transplantation into the basal turns of neomycin-injured guinea pig cochleas. We also examined the effects of mIESC transplantation on auditory functions. Eight adult female Cavia porcellus guinea pigs (250-350g) were deafened by intratympanic neomycin delivery. After 7 days, the animals were randomly divided in two groups. The study group (n=4) received transplantation of LacZ-positive mIESCs in culture medium into the scala tympani. The control group (n=4) received culture medium only. At 2 weeks after transplantation, functional... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cochlea; Hearing loss; Stem cells; Cell transplantation; Ototoxicity. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016000400603 |
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| Batissoco,A.C.; Auricchio,M.T.B.M.; Kimura,L.; Tabith-Junior,A.; Mingroni-Netto,R.C.. |
| Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment. Their father, who carried a wild-type allele and a p.L76P mutation, had normal hearing. The mutation leads to the substitution of leucine (L) by proline (P) at residue 76, an evolutionarily conserved position in Cx26 as well as in other connexins. This mutation is predicted to affect the first extracellular domain (EC1) or the second transmembrane domain (TM2). EC1 is important for... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: GJB2 gene Connexin 26 Hearing impairment p.L76P c.227C>; T. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000200004 |
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| Abreu-Silva,R.S.; Lezirovitz,K.; Braga,M.C.C.; Spinelli,M.; Pirana,S.; Della-Rosa,V.A.; Otto,P.A.; Mingroni-Netto,R.C.. |
| Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and mutations in the tRNA Ser(UCN) gene in order to assess their frequency in the ethnically admixed Brazilian population. We found four individuals with A1555G mutation (2%), which is a frequency similar to those reported for European-derived populations in unselected samples. On the other hand, complete sequencing of the tRNA Ser(UCN) did not reveal reported pathogenic substitutions, namely A7445G,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mitochondrial DNA; Hearing impairment; A1555G mutation; TRNA Ser(UCN) mutations; European- and African- Brazilian patients. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000200008 |
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