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Læknablaðið - 15.12.2000, Page 21

Læknablaðið - 15.12.2000, Page 21
FRÆÐIGREINAR /ERFÐAGREINING SD, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNBl) hearing loss. Am J Hum Genet 1998; 62:792-9. 22. Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mut 1998;11:387-94. 23. Lench N, Housman M, Newton V, Van Camp G, Mueller R. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998; 351: 415. 24. Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nilsen K, et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG. Eur J Hum Genet 2000; 8:19-23. 25. The Human Gene Mutation Database, Cardiff: http://www.uwcm.ac.uk/uwcm/mg/ns 26. Kumar NM, Gilula NB. The gap junction communication channel. Cell 1996; 84: 381-8. 27. Yeager M, Unger VM, Falk MM. Synthesis assembly and structure of gap junction intercellular channels. Curr Opin Struct Biol 1998; 8: 517-24. 28. Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, et al. Mutations in GJB6 cause non- syndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999; 23:16-8. 29. Xia J, Liu C, Tang B, Pan Q, Huang L, Dai HP, et al. Mutations in the gene encoding gap junction protein P-3 associated with autosomal dominant hearing impairment. Nature Genet 1998; 20: 370-3. 30. Brunner HG, van Bennekom A, Lambermon EM, Oei TL, Cremers WR, Wieringa B, et al. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Hum Genet 1988; 80: 337-40. 31. Reardon W, Middleton-Price HR, Sandkuijl L, Phelps P, Bellmann S, Luxon L, et al. A multipedigree linkage study of X-Iinked deafness: linkage to Xql3-q21 and evidence for genetic heterogeneity. Genomics 1991; 11: 885-94. 32. de Kok YJM, Van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995; 267: 685-8. 33. de Kok YJ, Cremers CW, Ropers HH Cremers FP. The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POUF4 missense mutation. Hum Mutat 1997; 10:207-11. 34. Bitner-Glindzicz M, Turnpenny P, Höglund P, Kááriáinnen H, Sankila E-M, van der Maarel SM, et al. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet 1995; 4:1467-9. 35. Phelps PD, Reardon W, Pembrey ME, Bellman S, Luxom L. X- linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiolgy 1991; 33: 326-30. 36. Bell GI, Karam JH, Rutter W. Polymorphic DNA region adjacent to the 5'-end of the human insulin gene. Proc Natl Acad Sci USA 1981; 78: 5759-63. 37. Lee SW, Tomasetto C, Paul D, Keyomarsi K, Sanger R. Transcriptional downregulation of gap-junction proteins block junctional communication in human mammary tumor cell lines. JCell Biol 1992; 118:1213-21. 38. Kiang DT, Jin N, T\i ZJ, Lin HH. Upstream genomic sequence of the human connexin 26 gene. Gene 1997; 199:165-71. 39. Del Tito BJ, Poff III HE, Novotny MA, Cartledge DM, Walker RI 2nd, Earl CD, et al. Automated fluorescent analysis procedure for enzymatic mutation detection. Clin Chem 1998; 44: 731-9. 40. Murigia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, et al. Cx26 deafness: mutation analysis and clinical variability. J Med Genet 1999; 36:829-32. 41. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, et al. Clinical features of the prevalent form of childhood deafness, DFNBl, due to a connexin 26 gene defect: implications for genetic counselling. Lancet 1999; 353: 1298- 303. 42. Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene. Pediatrics 1999; 103:546-50. 43. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the the midwestern United States of GJB2 mutation causing inherited deafness. JAMA 1999; 281:2211-6. 44. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic decessive deafness. N Engl J Med 1998; 339:1500-5. 45. Sobe T, Erlich P, Berry A, Korostichevsky M, Vreugde S, Avraham KB, et al. High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet 1999; 86:499-500. 46. Brobby GW, Muller-Myhsok B, Horstmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998; 338:548- 50. 47. Brooker JK, Zhou Z, Silvermen LM, Rohlfs EM. Frequency of GJB2 (connexin 26) in African American and Caucasian populations in North Carolina. Am J Hum Genet 1999; 65/Suppl: A198. 48. Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe Ki, et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Hum Genet 2000; 90:141-5. 49. Martin PE, L Coleman S, Casalotti SO, Forge A, Evans WH. Properties of connexin 26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. Hum Mol Genet 1999; 8:2369-76. 50. White TW, Deans MR, Kelsell DP, Paul DL. Connexin mutations in deafness. Nature 1998; 394:630-1. 51. Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJH. Connexin mutations and hearing loss. Nature 1998; 391:32. Læknablaðið 2000/86 839

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