한국인에서의 SLC26A4 돌연변이

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참고문헌 (54)

1. Marazita ML, "Genetic epidemiological studies of early-onset deafness in the U.S. school-age population", Am J Med Genet, 46(5), pp.486~491 (1993)
2. Morton NE, "Genetic epidemiology of hearing impairment", Ann N Y Acad Sci, 630, pp.16~31 (1991)
3. Park HJ, "Connexin26 mutations associated with nonsyndromic hearing loss", Laryngoscope, 110(9), pp.1535~1538 (2000)
4. Park HJ, "Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians:global implications for the epidemiology of deafness", J Med Genet, 40(4), pp.242~248 (2003)
5. Park HJ, "Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans", Clin Genet, 67(2), pp.160~165 (2005)
6. Wu CC, "Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and", or Mondini dysplasia:a unique spectrum of mutations in Taiwan, including a frequent founder mutation, 2005, pp.115(6), 1060~1064
7. Guo YF, "GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects", Acta Otolaryngol, 128(3), pp.297~303 (2008)
8. Everett LA, "Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)", Nat Genet, 17(4), pp.411~422 (1997)
9. Li XC, "A mutation in PDS causes non-syndromic recessive deafness", Nat Genet, 18(3), pp.215~217 (1998)
10. Colvin IB, "Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts:relationship to radiologic findings and Pendred syndrome diagnosis", Laryngoscope, 116(11), pp.2027~2036 (2006)
11. Soleimani M, "Pendrin: an apical Cl-", OH-, Am J Physiol Renal Physiol, pp.2001, 280(2)[DOI]
12. Scott DA, "The Pendred syndrome gene encodes a chloride-iodide transport protein", Nat Genet, 21(4), pp.440~443 (1999)
13. Scott DA, "Human pendrin expressed in Xenopus laevis oocytes mediates chloride", formate exchange, 2000, pp.278(1), C207~C211
14. Wangemann P, "Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model", Am J Physiol Renal Physiol, 292(5), pp.F1345~F1453 (2007)
15. Azaiez H, "Genotype-phenotype correlations for SLC26A4-related deafness", Hum Genet, 122(5), pp.451~457 (2007)
16. Suzuki H, "Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations", Acta Otolaryngol, 127(12), pp.1292~1297 (2007)
17. Miyagawa M, "Usami S; Deafness Gene Study Consortium. Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study", J Hum Genet, 59(5), pp.262~268 (2014)
18. Kelsell DP, "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness", Nature, 387(6628), pp.80~83 (1997)
19. Zelante L, "Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans", Hum Mol Genet, 6(9), pp.1605~1609 (1997)
20. Abe S, "Prevalent connexin 26 gene (GJB2) mutations in Japanese", J Med Genet, 37(1), pp.41~43 (2000)
21. Kudo T, "Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population", Am J Med Genet, 90(2), pp.141~145 (2000)
22. Shin JW, "Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic", Clin Exp Otorhinolaryngol, 5(Suppl 1), pp.S10~S13 (2012)
23. Morton CC, "Newborn hearing screening--a silent revolution", N Engl J Med, 354(20), pp.2151~2164 (2006)
24. Dai P, "Distinct and novel SLC26A4", Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss, 2009, pp.38(3), 281~290
25. Albert S, "SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations", Eur J Hum Genet, 14(6), pp.773~779 (2006)
26. Wang QJ, "A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China", Clin Genet, 72(3), pp.245~254 (2007)
27. Song MJ, "Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population", J Hum Genet, 57(2), pp.139~144 (2012)
28. Tsukada K, "Deafness Gene Study Consortium. A large cohort study of GJB2 mutations in Japanese hearing loss patients", Clin Genet, 78(5), pp.464~470 (2010)
29. Blons H, "Screening of SLC26A4 (PDS) gene in Pendred’s syndrome: a large spectrum of mutations in France and phenotypic heterogeneity", Clin Genet, 66(4), pp.333~340 (2004)
30. Campbell C, "Pendred syndrome, DFNB4, and PDS", SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations, 2001, pp.17(5), 403~411
31. Coyle B, "Molecular analysis of the PDS gene in Pendred syndrome", Hum Mol Genet, 7(7), pp.1105~1112 (1998)
32. Gonzalez Trevino O, "Clinical and molecular analysis of three Mexican families with Pendred’s syndrome", Eur J Endocrinol, 114(6), pp.585~593 (2001)
33. López-Bigas N, "Identification of five new mutations of PDS", SLC26A4 in Mediterranean families with hearing impairment, 2001, pp.18(6), 548~
34. Prasad S, "Pendred syndrome and DFNB4-mutation screening of SLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations", Am J Med Genet A, 124A(1), pp.1~9 (2004)
35. Pryor SP, "SLC26A4", PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities, 2005, pp.42(2), 159~165
36. King KA, "SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct", Laryngoscope, 120(2), pp.384~389 (2010)
37. Ito T, "SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct", Cell Physiol Biochem, 28(3), pp.545~552 (2011)
38. Madden C, "The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct", Arch Otolaryngol Head Neck Surg, 133(2), pp.162~168 (2007)
39. Reyes S, "Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct", Otolaryngol Head Neck Surg, 141(4), pp.502~508 (2009)
40. Choi BY, "Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?", Hum Mutat, 30(4), pp.599~608 (2009)
41. Pera A, "Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA", Proc Natl Acad Sci U S A, 105(47), pp.18608~18613 (2008)
42. Yoon JS, "Heterogeneity in the processing defect of SLC26A4 mutants", J Med Genet, 45(7), pp.411~419 (2008)
43. Lee HJ, "Correlation between genotype and phenotype in patients with bi-allelic SLC26A4mutations", Clin Genet, 86(3), pp.270~275 (2014)
44. Rotman-Pikielny P, "Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome", Hum Mol Genet, 11(21), pp.2625~2633 (2002)
45. Dossena S, "Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome", J Mol Endocrinol, 43(3), pp.93~103 (2009)
46. Li X, "SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice", PLoS Genet, 9(7), pp.e1003641~ (2013)
47. Wangemann P, "The role of pendrin in the development of the murine inner ear", Cell Physiol Biochem, 28(3), pp.527~534 (2011)
48. Kim BG, "Limitations of hearing screening in newborns with PDS mutations", Int J Pediatr Otorhinolaryngol, 77(5), pp.833~837 (2013)
49. Lin CY, "The remediation of hearing deterioration in children with large vestibular aqueduct syndrome", Auris Nasus Larynx, 32(2), pp.99~105 (2005)
50. Grimmer JF, "Steroid treatment of hearing loss in enlarged vestibular aqueduct anomaly", Int J Pediatr Otorhinolaryngol, 72(11), pp.1711~1715 (2008)
51. Kim SH, "Endolymphatic sodium homeostasis by extramacular epithelium of the saccule", J Neurosci, 29(50), pp.15851~15858 (2009)
52. Kim SH, "Regulation of ENaC-mediated sodium transport by glucocorticoids in Reissner’s membrane epithelium", Am J Physiol Cell Physiol, 296(3), pp.C544~C557 (2009)
53. Pondugula SR, "Glucocorticoid regulation of genes in the amiloride-sensitive sodium transport pathway by semicircular canal duct epithelium of neonatal rat", Physiol Genomics, 24(2), pp.114~123 (2006)
54. Ishihara K, "Salicylate restores transport function and anion exchanger activity of missense pendrin mutations", Hear Res, 270(2-1), pp.110~118 (2010)

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