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Volumn 118, Issue 12, 2011, Pages 2335-2342

Ocular manifestations of trichothiodystrophy

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Indexed keywords

FLUORESCEIN;

EID: 82755189370     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2011.05.036     Document Type: Article
Times cited : (28)

References (50)
  • 1
    • 34247169028 scopus 로고    scopus 로고
    • Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship
    • DOI 10.1016/j.neuroscience.2006.12.020, PII S0306452206016885, Genome Dynamics and DNA Repair in the CNS
    • K.H. Kraemer, N.J. Patronas, and R. Schiffmann Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship Neuroscience 145 2007 1388 1396 (Pubitemid 46602743)
    • (2007) Neuroscience , vol.145 , Issue.4 , pp. 1388-1396
    • Kraemer, K.H.1    Patronas, N.J.2    Schiffmann, R.3    Brooks, B.P.4    Tamura, D.5    DiGiovanna, J.J.6
  • 2
    • 42249101874 scopus 로고    scopus 로고
    • Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
    • W.J. Kleijer, V. Laugel, and M. Berneburg Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy DNA Repair 7 2008 744 750
    • (2008) DNA Repair , vol.7 , pp. 744-750
    • Kleijer, W.J.1    Laugel, V.2    Berneburg, M.3
  • 3
    • 24644442729 scopus 로고    scopus 로고
    • Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
    • C. Liang, K.H. Kraemer, and A. Morris Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy J Am Acad Dermatol 52 2005 224 232
    • (2005) J Am Acad Dermatol , vol.52 , pp. 224-232
    • Liang, C.1    Kraemer, K.H.2    Morris, A.3
  • 5
    • 54049139573 scopus 로고    scopus 로고
    • Trichothiodystrophy: A systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
    • S. Faghri, D. Tamura, K.H. Kraemer, and J.J. Digiovanna Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations J Med Genet 45 2008 609 621
    • (2008) J Med Genet , vol.45 , pp. 609-621
    • Faghri, S.1    Tamura, D.2    Kraemer, K.H.3    Digiovanna, J.J.4
  • 6
    • 34247169028 scopus 로고    scopus 로고
    • Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship
    • DOI 10.1016/j.neuroscience.2006.12.020, PII S0306452206016885, Genome Dynamics and DNA Repair in the CNS
    • K.H. Kraemer, N.J. Patronas, and R. Schiffmann Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship Neuroscience 145 2007 1388 1396 (Pubitemid 46602743)
    • (2007) Neuroscience , vol.145 , Issue.4 , pp. 1388-1396
    • Kraemer, K.H.1    Patronas, N.J.2    Schiffmann, R.3    Brooks, B.P.4    Tamura, D.5    DiGiovanna, J.J.6
  • 7
    • 54049155465 scopus 로고    scopus 로고
    • Trichothiodystrophy includes a broad spectrum of multisystem abnormalities and may have a high mortality at a young age
    • (abstr 631)
    • S. Faghri, J.J. DiGiovanna, D. Tamura, and K.H. Kraemer Trichothiodystrophy includes a broad spectrum of multisystem abnormalities and may have a high mortality at a young age J Invest Dermatol 127 2007 S106 (abstr 631)
    • (2007) J Invest Dermatol , vol.127 , pp. 106
    • Faghri, S.1    Digiovanna, J.J.2    Tamura, D.3    Kraemer, K.H.4
  • 8
    • 0023130695 scopus 로고
    • Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
    • DOI 10.1001/archderm.123.2.241
    • K.H. Kraemer, M.M. Lee, and J. Scotto Xeroderma pigmentosum Cutaneous, ocular, and neurologic abnormalities in 830 published cases Arch Dermatol 123 1987 241 250 (Pubitemid 17002499)
    • (1987) Archives of Dermatology , vol.123 , Issue.2 , pp. 241-250
    • Kraemer, K.H.1    Lee, M.M.2    Scotto, J.3
  • 9
    • 0021282448 scopus 로고
    • DNA repair protects against cutaneous and internal neoplasia: Evidence from xeroderma pigmentosum
    • K.H. Kraemer, M.M. Lee, and J. Scotto DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum Carcinogenesis 5 1984 511 514 (Pubitemid 14126719)
    • (1984) Carcinogenesis , vol.5 , Issue.4 , pp. 511-514
    • Kraemer, K.H.1    Lee, M.M.2    Scotto, J.3
  • 11
    • 79951785364 scopus 로고    scopus 로고
    • Cancer and neurologic degeneration in xeroderma pigmentosum: Long term follow-up characterises the role of DNA repair
    • P.T. Bradford, A.M. Goldstein, and D. Tamura Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair J Med Genet 48 2011 168 176
    • (2011) J Med Genet , vol.48 , pp. 168-176
    • Bradford, P.T.1    Goldstein, A.M.2    Tamura, D.3
  • 15
    • 0022868911 scopus 로고
    • Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
    • DOI 10.1007/BF00282072
    • M. Stefanini, P. Lagomarsini, and C.F. Arlett Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity Hum Genet 74 1986 107 112 (Pubitemid 17057733)
    • (1986) Human Genetics , vol.74 , Issue.2 , pp. 107-112
    • Stefanini, M.1    Lagomarsini, P.2    Arlett, C.F.3
  • 18
    • 0141596908 scopus 로고    scopus 로고
    • Grading of corneal and conjunctival staining in the context of other dry eye tests
    • DOI 10.1097/00003226-200310000-00008
    • A.J. Bron, V.E. Evans, and J.A. Smith Grading of corneal and conjunctival staining in the context of other dry eye tests Cornea 22 2003 640 650 (Pubitemid 37175145)
    • (2003) Cornea , vol.22 , Issue.7 , pp. 640-650
    • Bron, A.J.1    Evans, V.E.2    Smith, J.A.3
  • 19
    • 0013930493 scopus 로고
    • The lacrimal secretory system and its treatment
    • L.T. Jones The lacrimal secretory system and its treatment Am J Ophthalmol 62 1966 47 60
    • (1966) Am J Ophthalmol , vol.62 , pp. 47-60
    • Jones, L.T.1
  • 21
    • 55349107594 scopus 로고    scopus 로고
    • Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: Cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy
    • J. Boyle, T. Ueda, and K.S. Oh Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy Hum Mutat 29 2008 1194 1208
    • (2008) Hum Mutat , vol.29 , pp. 1194-1208
    • Boyle, J.1    Ueda, T.2    Oh, K.S.3
  • 22
    • 82755191355 scopus 로고    scopus 로고
    • Trichothiodystrophy with and without xeroderma pigmentosum
    • (abstr 093)
    • J. DiGiovanna, T. Ueda, and H. Inui Trichothiodystrophy with and without xeroderma pigmentosum J Invest Dermatol 119 2002 223 (abstr 093)
    • (2002) J Invest Dermatol , vol.119 , pp. 223
    • Digiovanna, J.1    Ueda, T.2    Inui, H.3
  • 23
    • 77951721479 scopus 로고    scopus 로고
    • Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development
    • R. Moslehi, C. Signore, and D. Tamura Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development Clin Genet 77 2010 365 373
    • (2010) Clin Genet , vol.77 , pp. 365-373
    • Moslehi, R.1    Signore, C.2    Tamura, D.3
  • 24
    • 33746937812 scopus 로고    scopus 로고
    • Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy
    • DOI 10.1002/bip.20515
    • S. Schlucker, C. Liang, and K.R. Strehle Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: a quantitative analysis by Raman microspectroscopy Biopolymers 82 2006 615 622 (Pubitemid 44204800)
    • (2006) Biopolymers , vol.82 , Issue.6 , pp. 615-622
    • Schlucker, S.1    Liang, C.2    Strehle, K.R.3    DiGiovanna, J.J.4    Kraemer, K.H.5    Levin, I.W.6
  • 25
    • 0021795785 scopus 로고
    • Refractive development of the human eye
    • R.A. Gordon, and P.B. Donzis Refractive development of the human eye Arch Ophthalmol 103 1985 785 789 (Pubitemid 15059031)
    • (1985) Archives of Ophthalmology , vol.103 , Issue.6 , pp. 785-789
    • Gordon, R.A.1    Donzis, P.B.2
  • 26
    • 1642586707 scopus 로고    scopus 로고
    • Reassessment of the corneal endothelial cell organisation in children
    • DOI 10.1136/bjo.84.7.692
    • A. Muller, M.J. Doughty, and L. Wright Reassessment of the corneal endothelial cell organisation in children Br J Ophthalmol 84 2000 692 696 (Pubitemid 30438542)
    • (2000) British Journal of Ophthalmology , vol.84 , Issue.7 , pp. 692-696
    • Muller, A.1    Doughty, M.J.2    Wright, L.3
  • 27
    • 0019994929 scopus 로고
    • Effect of age on the endothelial cell count in the normal eye
    • R.S. Wilson, and M.J. Roper-Hall Effect of age on the endothelial cell count in the normal eye Br J Ophthalmol 66 1982 513 515 (Pubitemid 12049953)
    • (1982) British Journal of Ophthalmology , vol.66 , Issue.8 , pp. 513-515
    • Wilson, R.S.1    Roper-Hall, M.J.2
  • 28
    • 0023696282 scopus 로고
    • Variations in human corneal endothelial cell morphology and permeability to fluorescein with age
    • K.H. Carlson, W.M. Bourne, J.W. McLaren, and R.F. Brubaker Variations in human corneal endothelial cell morphology and permeability to fluorescein with age Exp Eye Res 47 1988 27 41
    • (1988) Exp Eye Res , vol.47 , pp. 27-41
    • Carlson, K.H.1    Bourne, W.M.2    McLaren, J.W.3    Brubaker, R.F.4
  • 29
    • 0033764839 scopus 로고    scopus 로고
    • Corneal endothelial cell density and morphology in normal Indian eyes
    • S.K. Rao, P. Ranjan Sen, and R. Fogla Corneal endothelial cell density and morphology in normal Indian eyes Cornea 19 2000 820
    • (2000) Cornea , vol.19 , pp. 820
    • Rao, S.K.1    Ranjan Sen, P.2    Fogla, R.3
  • 31
    • 12944305943 scopus 로고    scopus 로고
    • Central corneal pachymetry in patients undergoing laser in situ keratomileusis
    • F.W. Price Jr, D.L. Koller, and M.O. Price Central corneal pachymetry in patients undergoing laser in situ keratomileusis Ophthalmology 106 1999 2216 2220 (Pubitemid 30194249)
    • (1999) Ophthalmology , vol.106 , Issue.11 , pp. 2216-2220
    • Price Jr., F.W.1    Koller, D.L.2    Price, M.O.3
  • 34
  • 36
  • 37
    • 0030043021 scopus 로고    scopus 로고
    • Chondroitin sulfate proteoglycans in the developing central nervous system. II. Immunocytochemical localization of neurocan and phosphacan
    • DOI 10.1002/(SICI)1096-9861(19960226)366:1<44::AID-CNE4>3.0.CO;2-K
    • B. Meyer-Puttlitz, E. Junker, R.U. Margolis, and R.K. Margolis Chondroitin sulfate proteoglycans in the developing central nervous system II. Immunocytochemical localization of neurocan and phosphacan J Comp Neurol 366 1996 44 54 (Pubitemid 26069849)
    • (1996) Journal of Comparative Neurology , vol.366 , Issue.1 , pp. 44-54
    • Meyer-Puttlitz, B.1    Junker, E.2    Margolis, R.U.3    Margolis, R.K.4
  • 38
    • 75749135722 scopus 로고    scopus 로고
    • Trichothiodystrophy with dysmyelination and central osteosclerosis
    • J.H. Harreld, E.C. Smith, and N.S. Prose Trichothiodystrophy with dysmyelination and central osteosclerosis AJNR Am J Neuroradiol 31 2010 129 130
    • (2010) AJNR Am J Neuroradiol , vol.31 , pp. 129-130
    • Harreld, J.H.1    Smith, E.C.2    Prose, N.S.3
  • 39
    • 72949115497 scopus 로고    scopus 로고
    • Trichothiodystrophy: From basic mechanisms to clinical implications
    • M. Stefanini, E. Botta, M. Lanzafame, and D. Orioli Trichothiodystrophy: from basic mechanisms to clinical implications DNA Repair 9 2010 2 10
    • (2010) DNA Repair , vol.9 , pp. 2-10
    • Stefanini, M.1    Botta, E.2    Lanzafame, M.3    Orioli, D.4
  • 40
    • 0032993689 scopus 로고    scopus 로고
    • A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
    • DOI 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6
    • J.E. Cleaver, L.H. Thompson, A.S. Richardson, and J.C. States A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy Human Mutat 14 1999 9 22 (Pubitemid 29309939)
    • (1999) Human Mutation , vol.14 , Issue.1 , pp. 9-22
    • Cleaver, J.E.1    Thompson, L.H.2    Richardson, A.S.3    States, J.C.4
  • 41
    • 10044248212 scopus 로고    scopus 로고
    • Splitting hairs - Discovery of a new DNA repair and transcription factor for the human disease trichothiodystrophy
    • DOI 10.1016/j.dnarep.2004.09.005, PII S1568786404002678
    • J.E. Cleaver Splitting hairsdiscovery of a new DNA repair and transcription factor for the human disease trichothiodystrophy DNA Repair (Amst) 4 2005 285 287 (Pubitemid 39601417)
    • (2005) DNA Repair , vol.4 , Issue.2 , pp. 285-287
    • Cleaver, J.E.1
  • 42
    • 49949152164 scopus 로고    scopus 로고
    • Nucleotide excision repair deficient mouse models and neurological disease
    • L.J. Niedernhofer Nucleotide excision repair deficient mouse models and neurological disease DNA Repair (Amst) 7 2008 1180 1189
    • (2008) DNA Repair (Amst) , vol.7 , pp. 1180-1189
    • Niedernhofer, L.J.1
  • 43
  • 44
    • 73949125692 scopus 로고    scopus 로고
    • Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients
    • T. Ueda, E. Compe, and P. Catez Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients J Exp Med 206 2009 3031 3046
    • (2009) J Exp Med , vol.206 , pp. 3031-3046
    • Ueda, T.1    Compe, E.2    Catez, P.3
  • 47
    • 0035164394 scopus 로고    scopus 로고
    • Dry eye disease: The scale of the problem
    • H. Brewitt, and F. Sistani Dry eye disease: the scale of the problem Surv Ophthalmol 45 suppl 2 2001 S199 S202
    • (2001) Surv Ophthalmol , vol.45 , Issue.SUPPL. 2
    • Brewitt, H.1    Sistani, F.2
  • 48
    • 0037645975 scopus 로고    scopus 로고
    • Prevalence of dry eye among an elderly Chinese population in Taiwan: The Shihpai eye study
    • DOI 10.1016/S0161-6420(03)00262-8
    • P.-Y. Lin, S.-Y. Tsai, and C.-Y. Cheng Prevalence of dry eye among an elderly Chinese population in Taiwan: the Shihpai Eye Study Ophthalmology 110 2003 1096 1101 (Pubitemid 36676639)
    • (2003) Ophthalmology , vol.110 , Issue.6 , pp. 1096-1101
    • Lin, P.-Y.1    Tsai, S.-Y.2    Cheng, C.-Y.3    Liu, J.-H.4    Chou, P.5    Hsu, W.-M.6
  • 50
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • M.A. Nance, and S.A. Berry Cockayne syndrome: review of 140 cases Am J Med Genet 42 1992 68 84
    • (1992) Am J Med Genet , vol.42 , pp. 68-84
    • Nance, M.A.1    Berry, S.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.