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关键词:
- 聋 /
- 耳聋甲发育不全综合征 /
- 致病机制 /
- ATP6V1B2基因
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Key words:
- deafness /
- dominant deafness and onychodystrophy syndrome /
- pathogenesis /
- ATP6V1B2 gene
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[3] ROBINSON G C, MILLER J R, BENSIMON J R. Familial ectodermal dysplasia with sensorineural deafness and other anomalies[J].Pediatrics, 1962, 30:797-802.
[4] REED W B, STONE V M, BODER E, et al.Hereditary syndromes with auditory and dermatological manifestations[J].Arch Dermatol, 1967, 95:456-461.
[5] STEWART J M,BERGSTROM L.Familial hand abnormality and sensori-neural deafness:a new syndrome[J].J Pediatr, 1971,78:102-110.
[6] DUDDING B A, GORLIN R J, LANGER L O.The oto-palato-digital syndrome[J].Am J Dis Child, 1967, 113:214-221.
[7] CAMPEAU P M, KASPERAVICIUTE D, LU J T, et al. The genetic basis of DOORS syndrome:an exome-sequencing study[J].Lancet Neurol, 2014,13:44-58.
[8] YUAN Y, ZHANG J, CHANG Q, et al. De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome[J].Cell Res,2014,24:1370-1373.
[9] FEINMESSER M, ZELIG S. Congenital deafness associated with onychodystrophy[J].Arch Otolaryngol,1961,74:507-508.
[10] JAMES A W,MIRANDA S G,CULVER K,et al.DOOR syndrome:clinical report,literature review and discussion of natural history[J].Am J Med Genet,2007,143A:2821-2831.
[11] ROBINSON G C, MILLER J R, BENSIMON J R.Familial ectodermal dysplasia withsensoi-neural deafness and other anomalies[J].Pediatrics, 1962, 30:797-802.
[12] GOODMAN R M, LOCKAREFF S, GWINUP G. Hereditary congenital deafness with onychodystrophy[J].Arch Otolaryngol,1969,90:474-477.
[13] MOGHADAM H, STATTEN P.Hereditary sensorineural hearing loss associated with onychodystrophy and digital malformations[J].Can Med Assoc J,1972,107:310-312.
[14] KONDOH T, TSURU A, MATSUMOTO T, et al. Autosomal dominant onychodystrophy and congenital sensorineural deafnessMOGHADAM H, STATTEN P.Hereditary sensorineural hearing loss associated with onychodystrophy and digital malformations[J].J Hum Genet,1999,44:60-62.
[15] WHITE S M, FAHEY M.Report of a further family with dominant deafness-onychodystrophy (DDOD) syndromeMOGHADAM H, STATTEN P.Hereditary sensorineural hearing loss associated with onychodystrophy and digital malformations[J].Am J Med Genet A,2011,155A:2512-2515.
[16] MENENDEZ I, CARRANZA C, HERRERA M, et al. Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation[J].Clin Case Rep,2017,5:376-379.
[17] VIND-KEZUNOVIC D, TORRING P M.A Danish family with dominant deafness-onychodystrophy syndrome[J].J Dermatol Case Rep,2013,7:125-128.
[18] KAWASAKI-NISHI S,NISHI T,FORGAC M.Proton translocation driven by ATP hydrolysis in V-ATPases[J].FEBS Lett,2003,545:76-85.
[19] WAGNER C A, FINBERG K E, BRETON S, et al.Renal vacuolar H+-ATPase[J].Physiol Rev,2004,84:1263-1314.
[20] SCHUMACHER K, KREBS M. The V-ATPase:small cargo, large effects[J].Curr Opin Plant Biol,2010,13:724-730.
[21] FORGAC M. Vacuolar ATPases:rotary proton pumps in physiology and pathophysiology[J].Nat Rev Mol Cell Biol,2007,8:917-929.
[22] WILKENS S, INOUE T, FORGAC M. Three-dimensional structure of the vacuolar ATPase. Localization of subunit H by difference imaging and chemical cross-linking[J].J Biol Chem,2004,279:41942-41949.
[23] ZHANG Z, ZHENG Y, MAZON H, et al.Crystal structure of A3B3 complex of V-ATPase from Thermus thermophilus[J].EMBO J,2009,28:3771-3779.
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