Bibliografia - References
 
Genetica della sordita`: Il ruolo della Connexina26
Genetics of hearing loss: The role of Connexin26
 

1. McKusic, V.A. Mendelian Inheritance in Man, 10th edn. (Johns Hopkins University Press, Baltimore,1992)
2. Reardon W: Genetic deafness.  J Med Genet 1992; 29:521-526
3. Steel HP, Brown SDM: Genes and deafness. Trends Genet 1994; 10:428-435
4. Guilford P, Arab SB, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, et al. (1994) A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genet 6: 24-28
5. Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, et al. (1995) A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genet 9: 86-91
6. Baldwin CT, Farrer LA, Weiss S, De Stefano AL, Adair R, Franklyn B, et al. (1995) Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet 4: 1637-1642
7. Fukushima K, Arabandi R, Srisailapathy CRS, NI L, Wayne S, O'Neill ME, et al. (1995) Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum Mol Genet 4: 1643-1648
8. Fukushima K, Arabandi R, Srisailapathy CRS, NI L, Wayne S, O'Neill ME, et al. (1995) An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6.  Genome Res 5: 305-308
9. Jain PK, Fukushima K, Deshmukh D, Arabandi R, Thomas E, Kumar S, et al. (1995) A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus.  Hum Mol Genet 4: 2391-2394
10. Veske A, Oehlmann R, Younus F, Mohyuddin A, Muller-Myshok B, Qasim Mehdi S, et al. (1996) Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in large consanguineous kindred from Pakistan. Hum Mol Genet 5:165-168
11. Chaib H, Place C, Salem N, Chardenoux S, Vincent C, Weissenbach J, et al. (1996) A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.  Hum Mol Genet 5: 155-158
12. Bonne-Tamir B, De Stefano A, Briggs C, Adair R, Franklin B, Weiss S, et al. (1996) Linkage of congenital recessive deafness (DFNB10) to chromosome 21q22.3. Am J Hum Genet 58: 1254-1259

13. Chaib H, Place C, Salem N, Salem N, Dodè C, Chardenoux S,et al. (1996) Mapping  of DFNB12 a gene for non-syndromal autosomal recessive deafness to chromosome 10q21-22. Hum Mol Genet 5: 1061-1064
14. Scott D, Carmi R, ElbedourK (1996) An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin Kindreds. Am J Hum Genet 59: 385-391
15. Maw MA, Allen Powell DR, Goodey RJ, Stewart I, Nancarrow DJ, Hayward N, et al. (1995) The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet 57: 629-635
16. Brown KA, Janjua AH, Karbani G, Parry G, Noble A, Crockford G, et al. (1996) Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.  Hum Mol Genet 5: 169-173
17. Gasparini P, Estivill X, Volpini V, Totaro A, Stanziale P, Della Monica M, et al. Linkage of DFNB1 to Non-syndromic Neurosensory Autosomal Recessive Deafness in Mediterranean Families. Eur J Hum Genet 1997;5,83-8
18. Minerva Biotecnologica
19. Zelante L, Gasparini P, Estivill X, et al. Connexin-26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 9:1605-1609
20.Liu X-Z, Walsh J, Mburu P, et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997; 16:188-90
22.Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995; 374:60-1
23.Beyer EC, Paul DL, Goodenough DA. Connexin family of gap junction proteins. J Membr Biol 1990; 116:187-94
24.Wolburg H, Rohlmann A. Structure-function relationships in gap junctions. Int. Rev. Cytology 1995;157315-73
25.Rahman S; Evans WH. Topography of connexin-32 in rat liver gap junctions. Evidence for an intramolecular disulphide linkage connecting the two extracellular peptide loops. J Cell Sci 1991; 100:567-78
26.Bergoffen J, Scherer SS,Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science, 1993; 262:2039-42
27.Nadol JB Jr, Mulroy MJ, Goodenough DA, Weiss TF. Tight and gap junctions in a vertebrate inner ear. Am J Anat 1976; 147:281-301
28.Dunn RA, Morest DK. Receptor synapses without synaptic ribbons in the cochlea of the cat. Proc Natl Acad Sci USA 1975; 72:3599-603
29.Kelsell DP, Dunlop J, Steven HP, et al. Connexin-26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387:80-3
30.Sosinsky G. Mixing of connexins in gap junction membrane channels. Proc Natl Acad Sci USA 1995; 92:9210-4
31.Stauffer KA. The gap junction proteins ß1-connexin (connexin-32) and ß2-connexin (connexin-26) can form heteromeric hemichannels. J Biol Chem 1995; 27:6768-72