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Volumn 10, Issue 1, 2011, Pages 127-132

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

Author keywords

CYLD; Familial cylindromatosis; Large rearrangement; Mutation analysis; Q PCR analysis

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYLD GENE; CYLINDROMA; FAMILIAL CANCER; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TUMOR GENE;

EID: 79951850791     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-010-9393-y     Document Type: Article
Times cited : (18)

References (24)
  • 1
    • 0014259810 scopus 로고
    • Ancell-Spiegler cylindromas (turban tumours), Brooke-Fordyce Trichoepitheliomas: Evidence for a single genetic entity
    • 1:STN:280:DyaF1c3ns1Snug%3D%3D 10.1136/jmg.5.1.29 5653864
    • JP Welch RS Wells CB Kerr 1968 Ancell-Spiegler cylindromas (turban tumours), Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity J Med Genet 5 1 29 35 1:STN:280:DyaF1c3ns1Snug%3D%3D 10.1136/jmg.5.1.29 5653864
    • (1968) J Med Genet , vol.5 , Issue.1 , pp. 29-35
    • Welch, J.P.1    Wells, R.S.2    Kerr, C.B.3
  • 2
    • 33747095078 scopus 로고    scopus 로고
    • CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes
    • DOI 10.1111/j.1399-0004.2006.00667.x
    • AL Young R Kellermayer R Szigeti A Teszas S Azmi JT Celebi 2006 CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, multiple familial trichoepithelioma syndromes Clin Genet 70 3 246 249 1:STN:280: DC%2BD28vpvV2gtA%3D%3D 10.1111/j.1399-0004.2006.00667.x 16922728 (Pubitemid 44219513)
    • (2006) Clinical Genetics , vol.70 , Issue.3 , pp. 246-249
    • Young, A.L.1    Kellermayer, R.2    Szigeti, R.3    Teszas, A.4    Azmi, S.5    Celebi, J.T.6
  • 3
    • 53749100454 scopus 로고    scopus 로고
    • Multiple familial trichoepithelioma, familial cylindroma: One cause!
    • 1:STN:280:DC%2BD1cjkvVWktQ%3D%3D 10.1111/j.1468-3083.2008.02648.x 18355210
    • AP Oranje D Halley JC den Hollander, et al. 2008 Multiple familial trichoepithelioma, familial cylindroma: one cause! J Eur Acad Dermatol Venereol 22 11 1395 1396 1:STN:280:DC%2BD1cjkvVWktQ%3D%3D 10.1111/j.1468-3083.2008.02648. x 18355210
    • (2008) J Eur Acad Dermatol Venereol , vol.22 , Issue.11 , pp. 1395-1396
    • Oranje, A.P.1    Halley, D.2    Den Hollander, J.C.3
  • 4
    • 0028788975 scopus 로고
    • Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: Evidence for its role as a tumour suppressor gene
    • 1:STN:280:DyaK28%2FotlGqtg%3D%3D 10.1038/ng1295-441 7493027
    • PJ Biggs R Wooster D Ford, et al. 1995 Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene Nat Genet 11 4 441 443 1:STN:280: DyaK28%2FotlGqtg%3D%3D 10.1038/ng1295-441 7493027
    • (1995) Nat Genet , vol.11 , Issue.4 , pp. 441-443
    • Biggs, P.J.1    Wooster, R.2    Ford, D.3
  • 7
    • 67649672157 scopus 로고    scopus 로고
    • Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: Novel insights into the role of deubiquitination in cell signaling
    • 1:CAS:528:DC%2BD1MXptlSjt78%3D 10.1002/humu.21024 19462465
    • PW Blake JR Toro 2009 Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling Hum Mutat 30 7 1025 1036 1:CAS:528:DC%2BD1MXptlSjt78%3D 10.1002/humu.21024 19462465
    • (2009) Hum Mutat , vol.30 , Issue.7 , pp. 1025-1036
    • Blake, P.W.1    Toro, J.R.2
  • 8
    • 70349739595 scopus 로고    scopus 로고
    • A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, unusual histology
    • 10.1097/DAD.0b013e3181a05dad 19668078
    • DV Kazakov S Thoma-Uszynski T Vanecek D Kacerovska P Grossmann M Michal 2009 A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, unusual histology Am J Dermatopathol 31 7 664 673 10.1097/DAD.0b013e3181a05dad 19668078
    • (2009) Am J Dermatopathol , vol.31 , Issue.7 , pp. 664-673
    • Kazakov, D.V.1    Thoma-Uszynski, S.2    Vanecek, T.3    Kacerovska, D.4    Grossmann, P.5    Michal, M.6
  • 12
    • 0042467554 scopus 로고    scopus 로고
    • Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-κB
    • DOI 10.1038/nature01811
    • TR Brummelkamp SM Nijman AM Dirac R Bernards 2003 Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB Nature 424 6950 797 801 1:CAS:528:DC%2BD3sXmt1antr4%3D 10.1038/nature01811 12917690 (Pubitemid 37021711)
    • (2003) Nature , vol.424 , Issue.6950 , pp. 797-801
    • Brummelkamp, T.R.1    Nijman, S.M.B.2    Dirac, A.M.G.3    Bernards, R.4
  • 13
    • 0042467558 scopus 로고    scopus 로고
    • CYLD is a deubiquitinating enzyme that negatively regulates NF-κB activation by TNFR family members
    • DOI 10.1038/nature01803
    • E Trompouki E Hatzivassiliou T Tsichritzis H Farmer A Ashworth G Mosialos 2003 CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members Nature 424 6950 793 796 1:CAS:528: DC%2BD3sXmt1ansbc%3D 10.1038/nature01803 12917689 (Pubitemid 37021710)
    • (2003) Nature , vol.424 , Issue.6950 , pp. 793-796
    • Trompouki, E.1    Hatzivassillou, E.2    Tsichritzis, T.3    Farmer, H.4    Ashworth, A.5    Mosialos, G.6
  • 14
    • 34548158011 scopus 로고    scopus 로고
    • Tumor Suppressor CYLD Regulates JNK-Induced Cell Death in Drosophila
    • DOI 10.1016/j.devcel.2007.07.012, PII S1534580707002730
    • L Xue T Igaki E Kuranaga H Kanda M Miura T Xu 2007 Tumor suppressor CYLD regulates JNK-induced cell death in Drosophila Dev Cell 13 3 446 454 1:CAS:528:DC%2BD2sXhtVels73L 10.1016/j.devcel.2007.07.012 17765686 (Pubitemid 47308678)
    • (2007) Developmental Cell , vol.13 , Issue.3 , pp. 446-454
    • Xue, L.1    Igaki, T.2    Kuranaga, E.3    Kanda, H.4    Miura, M.5    Xu, T.6
  • 15
    • 0029883923 scopus 로고    scopus 로고
    • The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas
    • PJ Biggs P Chapman SR Lakhani J Burn MR Stratton 1996 The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas Oncogene 12 6 1375 1377 1:STN:280: DyaK283is1eksw%3D%3D 8649842 (Pubitemid 26127270)
    • (1996) Oncogene , vol.12 , Issue.6 , pp. 1375-1377
    • Biggs, P.J.1    Chapman, P.2    Lakhani, S.R.3    Burn, J.4    Stratton, M.R.5
  • 16
    • 0032780849 scopus 로고    scopus 로고
    • A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16
    • DOI 10.1007/s004390051083
    • SA Thomson SA Rasmussen J Zhang MR Wallace 1999 A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16 Hum Genet 105 1-2 171 173 1:CAS:528:DyaK1MXmsVaru7s%3D 10480375 (Pubitemid 29396984)
    • (1999) Human Genetics , vol.105 , Issue.1-2 , pp. 171-173
    • Thomson, S.A.M.1    Rasmussen, S.A.2    Zhang, J.3    Wallace, M.R.4
  • 20
    • 67651056140 scopus 로고    scopus 로고
    • Deletion of exons 1a-2 of BRCA1: A rather frequent pathogenic abnormality
    • 10.1089/gtmb.2008.0155 19405878
    • AM van den Ouweland WN Dinjens LC Dorssers, et al. 2009 Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality Genet Test Mol Biomarkers 13 3 399 406 10.1089/gtmb.2008.0155 19405878
    • (2009) Genet Test Mol Biomarkers , vol.13 , Issue.3 , pp. 399-406
    • Van Den Ouweland, A.M.1    Dinjens, W.N.2    Dorssers, L.C.3
  • 21
    • 0345356408 scopus 로고    scopus 로고
    • Real-time genotyping with oligonucleotide probes containing locked nucleic acids
    • DOI 10.1016/j.ab.2003.09.003
    • LA Ugozzoli D Latorra R Puckett K Arar K Hamby 2004 Real-time genotyping with oligonucleotide probes containing locked nucleic acids Anal Biochem 324 1 143 152 1:CAS:528:DC%2BD3sXptl2qtL4%3D 10.1016/j.ab.2003.09.003 14654057 (Pubitemid 37491135)
    • (2004) Analytical Biochemistry , vol.324 , Issue.1 , pp. 143-152
    • Ugozzoli, L.A.1    Latorra, D.2    Pucket, R.3    Arar, K.4    Hamby, K.5
  • 22
    • 39549106692 scopus 로고    scopus 로고
    • The Structure of the CYLD USP Domain Explains Its Specificity for Lys63-Linked Polyubiquitin and Reveals a B Box Module
    • DOI 10.1016/j.molcel.2007.12.018, PII S1097276508000154
    • D Komander CJ Lord H Scheel, et al. 2008 The structure of the CYLD USP domain explains its specificity for Lys63-linked polyubiquitin and reveals a B box module Mol cell 29 4 451 464 1:CAS:528:DC%2BD1cXjtFCgtr4%3D 10.1016/j.molcel.2007.12.018 18313383 (Pubitemid 351282537)
    • (2008) Molecular Cell , vol.29 , Issue.4 , pp. 451-464
    • Komander, D.1    Lord, C.J.2    Scheel, H.3    Swift, S.4    Hofmann, K.5    Ashworth, A.6    Barford, D.7
  • 24
    • 0017144515 scopus 로고
    • Epitheliomaadenoides cysticum: Genetic update
    • 1:STN:280:DyaE2s%2FitF2mug%3D%3D 10.1111/j.1365-2133.1976.tb07008.x 974013
    • DE Anderson JB Howell 1976 Epitheliomaadenoides cysticum: genetic update Br J Dermatol 95 3 225 232 1:STN:280:DyaE2s%2FitF2mug%3D%3D 10.1111/j.1365-2133. 1976.tb07008.x 974013
    • (1976) Br J Dermatol , vol.95 , Issue.3 , pp. 225-232
    • Anderson, D.E.1    Howell, J.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.