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Volumn 467, Issue 5, 2009, Pages 1195-1200

Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 3; TROPOMYOSIN; TROPOMYOSIN 2; TROPONIN T; TROPONIN T3; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; MYH3 POLYPEPTIDE, HUMAN; TNNT3 PROTEIN, HUMAN; TPM2 PROTEIN, HUMAN;

EID: 64849097074     PISSN: 0009921X     EISSN: 15281132     Source Type: Journal    
DOI: 10.1007/s11999-008-0694-5     Document Type: Conference Paper
Times cited : (33)

References (28)
  • 1
    • 0029844409 scopus 로고    scopus 로고
    • Distal arthrogryposis type 1: Clinical analysis of a large kindred
    • DOI 10.1002/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R
    • M Bamshad JF Bohnsack LB Jorde JC Carey 1996 Distal arthrogryposis type 1: clinical analysis of a large kindred Am J Med Genet. 65 282 285 8923936 10.1002/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R 1:STN:280:ByiD1c3ntVQ%3D (Pubitemid 26372949)
    • (1996) American Journal of Medical Genetics , vol.65 , Issue.4 , pp. 282-285
    • Bamshad, M.1    Bohnsack, J.F.2    Jorde, L.B.3    Carey, J.C.4
  • 2
    • 0029807941 scopus 로고    scopus 로고
    • A revised and extended classification of the distal arthrogryposes
    • DOI 10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M
    • M Bamshad LB Jorde JC Carey 1996 A revised and extended classification of the distal arthrogryposes Am J Med Genet. 65 277 281 8923935 10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M 1:STN:280:ByiD1c3mvF0%3D (Pubitemid 26372948)
    • (1996) American Journal of Medical Genetics , vol.65 , Issue.4 , pp. 277-281
    • Bamshad, M.1    Jorde, L.B.2    Carey, J.C.3
  • 3
    • 20444368373 scopus 로고    scopus 로고
    • The distal arthrogryposes: A new classification of peripheral contractures
    • DOI 10.1097/01.blo.0000157540.75191.1d
    • RK Beals 2005 The distal arthrogryposes: a new classification of peripheral contractures Clin Orthop Relat Res. 435 203 210 15930940 10.1097/01.blo.0000157540.75191.1d (Pubitemid 40798664)
    • (2005) Clinical Orthopaedics and Related Research , Issue.435 , pp. 203-210
    • Beals, R.K.1
  • 4
  • 5
    • 44849134159 scopus 로고    scopus 로고
    • Bioinformatics Assessment of β-Myosin Mutations Reveals Myosin's High Sensitivity to Mutations
    • DOI 10.1016/j.tcm.2008.04.001, PII S1050173808000583
    • M Buvoli M Hamady LA Leinwand R Knight 2008 Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations Trends Cardiovasc Med. 18 141 149 18555187 10.1016/j.tcm.2008.04.001 1:CAS:528:DC%2BD1cXntlGmu7s%3D (Pubitemid 351794543)
    • (2008) Trends in Cardiovascular Medicine , vol.18 , Issue.4 , pp. 141-149
    • Buvoli, M.1    Hamady, M.2    Leinwand, L.A.3    Knight, R.4
  • 6
    • 0028875006 scopus 로고
    • Treatment of idiopathic clubfoot. A thirty-year follow-up note
    • 7593056 1:STN:280:BymD38jotFY%3D
    • DM Cooper FR Dietz 1995 Treatment of idiopathic clubfoot. A thirty-year follow-up note J Bone Joint Surg Am. 77 1477 1489 7593056 1:STN:280: BymD38jotFY%3D
    • (1995) J Bone Joint Surg Am. , vol.77 , pp. 1477-1489
    • Cooper, D.M.1    Dietz, F.R.2
  • 8
    • 27644437273 scopus 로고    scopus 로고
    • Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation
    • 16005596 1:CAS:528:DC%2BD2MXhtFWht7vJ
    • MB Dobbs CA Gurnett J Robarge JE Gordon JA Morcuende AM Bowcock 2005 Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation J Orthop Res. 23 1490 1494 16005596 1:CAS:528:DC%2BD2MXhtFWht7vJ
    • (2005) J Orthop Res. , vol.23 , pp. 1490-1494
    • Dobbs, M.B.1    Gurnett, C.A.2    Robarge, J.3    Gordon, J.E.4    Morcuende, J.A.5    Bowcock, A.M.6
  • 9
    • 33744785378 scopus 로고    scopus 로고
    • Early results of a new method of treatment for idiopathic congenital vertical talus
    • DOI 10.2106/JBJS.E.00402
    • MB Dobbs DB Purcell R Nunley JA Morcuende 2006 Early results of a new method of treatment for idiopathic congenital vertical talus J Bone Joint Surg Am. 88 1192 1200 16757750 10.2106/JBJS.E.00402 (Pubitemid 43837111)
    • (2006) Journal of Bone and Joint Surgery - Series A , vol.88 , Issue.6 , pp. 1192-1200
    • Dobbs, M.B.1    Purcell, D.B.2    Nunley, R.3    Morcuende, J.A.4
  • 10
    • 34147099490 scopus 로고    scopus 로고
    • Early results of a new method of treatment for idiopathic congenital vertical talus. Surgical technique
    • Suppl 2 Pt.1
    • Dobbs MB, Purcell DB, Nunley R, Morcuende JA. Early results of a new method of treatment for idiopathic congenital vertical talus. Surgical technique. J Bone Joint Surg Am. 2007;89 Suppl 2 Pt.1:111-121.
    • (2007) J Bone Joint Surg Am. , vol.89 , pp. 111-121
    • Dobbs, M.B.1    Purcell, D.B.2    Nunley, R.3    Morcuende, J.A.4
  • 11
    • 0024416866 scopus 로고
    • Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene
    • DOI 10.1016/0014-5793(89)81710-7
    • M Eller HH Stedman JE Sylvester SH Fertels QL Wu MK Raychowdhury NA Rubinstein AM Kelly S Sarkar 1989 Human embryonic myosin heavy chain cDNA Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene FEBS Lett. 256 21 28 2806546 10.1016/0014-5793(89)81710-7 1:CAS:528:DyaL1MXmt1Kns7g%3D (Pubitemid 19246463)
    • (1989) FEBS Letters , vol.256 , Issue.1-2 , pp. 21-28
    • Eller, M.1    Stedman, H.H.2    Sylvester, J.E.3    Fertels, S.H.4    Wu, Q.5    Raychowdhury, M.K.6    Rubinstein, N.A.7    Kelly, A.M.8    Sarkar, S.9
  • 13
    • 34548414125 scopus 로고    scopus 로고
    • Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus
    • DOI 10.1097/BLO.0b013e31805d8649, PII 0000308620070900000006
    • CA Gurnett C Keppel J Bick AM Bowcock MB Dobbs 2007 Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus Clin Orthop Relat Res. 462 27 31 17417092 10.1097/BLO.0b013e31805d8649 (Pubitemid 47367839)
    • (2007) Clinical Orthopaedics and Related Research , Issue.462 , pp. 27-31
    • Gurnett, C.A.1    Keppel, C.2    Bick, J.3    Bowcock, A.M.4    Dobbs, M.B.5
  • 14
    • 0030930014 scopus 로고    scopus 로고
    • Arthrogryposis multiplex congenita: Etiology, genetics, classification, diagnostic approach, and general aspects
    • 9260643 1:STN:280:ByiH3cjktFQ%3D
    • JG Hall 1997 Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects J Pediatr Orthop B. 6 159 166 9260643 1:STN:280:ByiH3cjktFQ%3D
    • (1997) J Pediatr Orthop B. , vol.6 , pp. 159-166
    • Hall, J.G.1
  • 15
    • 0020041341 scopus 로고
    • The distal arthrogryposes: Delineation of new entities-review and nosologic discussion
    • 7039311 10.1002/ajmg.1320110208 1:STN:280:Bi2C2Mjitl0%3D
    • JG Hall SD Reed G Greene 1982 The distal arthrogryposes: delineation of new entities-review and nosologic discussion Am J Med Genet. 11 185 239 7039311 10.1002/ajmg.1320110208 1:STN:280:Bi2C2Mjitl0%3D
    • (1982) Am J Med Genet. , vol.11 , pp. 185-239
    • Hall, J.G.1    Reed, S.D.2    Greene, G.3
  • 16
    • 0018865216 scopus 로고
    • Long-term results of treatment of congenital club foot
    • 7351412 1:STN:280:Bi%2BD1MvlvVE%3D
    • SJ Laaveg IV Ponseti 1980 Long-term results of treatment of congenital club foot J Bone Joint Surg Am. 62 23 31 7351412 1:STN:280:Bi%2BD1MvlvVE%3D
    • (1980) J Bone Joint Surg Am. , vol.62 , pp. 23-31
    • Laaveg, S.J.1    Ponseti, I.V.2
  • 17
    • 0032168715 scopus 로고    scopus 로고
    • Genetic epidemiology study of idiopathic talipes equinovarus
    • DOI 10.1002/(SICI)1096-8628(19980901)79:2<90::AID-AJMG3>3.0.CO;2-R
    • C Lochmiller D Johnston A Scott M Risman JT Hecht 1998 Genetic epidemiology study of idiopathic talipes equinovarus Am J Med Genet. 79 90 96 9741465 10.1002/(SICI)1096-8628(19980901)79:2<90::AID-AJMG3>3.0.CO;2-R 1:STN:280:DyaK1cvht1CqtA%3D%3D (Pubitemid 28433383)
    • (1998) American Journal of Medical Genetics , vol.79 , Issue.2 , pp. 90-96
    • Lochmiller, C.1    Johnston, D.2    Scott, A.3    Risman, M.4    Hecht, J.T.5
  • 18
    • 0034761768 scopus 로고    scopus 로고
    • A comparative molecular analysis of developing mouse forelimbs and hindlimbs using Serial Analysis of Gene Expression (SAGE)
    • DOI 10.1101/gr.192601
    • EH Margulies SL Kardia JW Innis 2001 A comparative molecular analysis of developing mouse forelimbs and hindlimbs using serial analysis of gene expression (SAGE) Genome Res. 11 1686 1698 11591645 10.1101/gr.192601 1:CAS:528:DC%2BD3MXnvFCmt70%3D (Pubitemid 33040495)
    • (2001) Genome Research , vol.11 , Issue.10 , pp. 1686-1698
    • Margulies, E.H.1    Kardia, S.L.R.2    Innis, J.W.3
  • 19
    • 33847377664 scopus 로고    scopus 로고
    • Mutations in fast skeletal troponin I, troponin T, and β-tropomyosin that cause distal arthrogryposis all increase contractile function
    • DOI 10.1096/fj.06-6899com
    • P Robinson S Lipscomb LC Preston E Altin H Watkins CC Ashley CS Redwood 2007 Mutations in fast skeletal troponin I, troponin T and beta-tropomyosin that cause distal arthrogryposis all increase contractile function FASEB J. 21 896 905 17194691 10.1096/fj.06-6899com 1:CAS:528:DC%2BD2sXis1ehtrw%3D (Pubitemid 46348262)
    • (2007) FASEB Journal , vol.21 , Issue.3 , pp. 896-905
    • Robinson, P.1    Lipscomb, S.2    Preston, L.C.3    Altin, E.4    Watkins, H.5    Ashley, C.C.6    Redwood, C.S.7
  • 20
    • 23944508500 scopus 로고    scopus 로고
    • Transcriptome analysis of the murine forelimb and hindlimb autopod
    • DOI 10.1002/dvdy.20514
    • S Shou V Scott C Reed R Hitzemann HS Stadler 2005 Transcriptome analysis of the murine forelimb and hindlimb autopod Dev Dyn. 234 74 89 16059910 10.1002/dvdy.20514 1:CAS:528:DC%2BD2MXhtVehtbvO (Pubitemid 41192752)
    • (2005) Developmental Dynamics , vol.234 , Issue.1 , pp. 74-89
    • Shou, S.1    Scott, V.2    Reed, C.3    Hitzemann, R.4    Stadler, H.S.5
  • 21
    • 33645018504 scopus 로고    scopus 로고
    • Clinical characteristics and natural history of Freeman-Sheldon syndrome
    • DOI 10.1542/peds.2005-1219
    • DA Stevenson JC Carey J Palumbos A Rutherford J Dolcourt MJ Bamshad 2006 Clinical characteristics and natural history of Freeman-Sheldon syndrome Pediatrics. 117 754 762 16510655 10.1542/peds.2005-1219 (Pubitemid 46063217)
    • (2006) Pediatrics , vol.117 , Issue.3 , pp. 754-762
    • Stevenson, D.A.1    Carey, J.C.2    Palumbos, J.3    Rutherford, A.4    Dolcourt, J.5    Bamshad, M.J.6
  • 24
    • 0035869223 scopus 로고    scopus 로고
    • Prediction of deleterious human alleles
    • 11230178 10.1093/hmg/10.6.591 1:CAS:528:DC%2BD3MXit1ehtbs%3D
    • S Sunyaev V Ramensky I Koch W Lathe 3rd AS Kondrashov P Bork 2001 Prediction of deleterious human alleles Hum Mol Genet. 10 591 597 11230178 10.1093/hmg/10.6.591 1:CAS:528:DC%2BD3MXit1ehtbs%3D
    • (2001) Hum Mol Genet. , vol.10 , pp. 591-597
    • Sunyaev, S.1    Ramensky, V.2    Koch, I.3    Lathe III, W.4    Kondrashov, A.S.5    Bork, P.6
  • 25
    • 33646364575 scopus 로고    scopus 로고
    • Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
    • 16642020 10.1038/ng1775 1:CAS:528:DC%2BD28XjvVGktr4%3D
    • RM Toydemir A Rutherford FG Whitby LB Jorde JC Carey MJ Bamshad 2006 Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome Nat Genet. 38 561 565 16642020 10.1038/ng1775 1:CAS:528:DC%2BD28XjvVGktr4%3D
    • (2006) Nat Genet. , vol.38 , pp. 561-565
    • Toydemir, R.M.1    Rutherford, A.2    Whitby, F.G.3    Jorde, L.B.4    Carey, J.C.5    Bamshad, M.J.6
  • 27
    • 76549163722 scopus 로고
    • Family studies and the cause of congenital clubfoot. talipes equinovarus, talipes calcaneo-valgus and metatarsus varus
    • 14216453 1:STN:280:CCqD38%2FosVI%3D
    • R Wynne-Davies 1964 Family studies and the cause of congenital clubfoot. talipes equinovarus, talipes calcaneo-valgus and metatarsus varus J Bone Joint Surg Br. 46 445 463 14216453 1:STN:280:CCqD38%2FosVI%3D
    • (1964) J Bone Joint Surg Br. , vol.46 , pp. 445-463
    • Wynne-Davies, R.1
  • 28
    • 0015334065 scopus 로고
    • Genetic and environmental factors in the etiology of talipes equinovarus
    • 5032855 10.1097/00003086-197205000-00003 1:STN:280:CS2B3cvptFA%3D
    • R Wynne-Davies 1972 Genetic and environmental factors in the etiology of talipes equinovarus Clin Orthop Relat Res. 84 9 13 5032855 10.1097/00003086- 197205000-00003 1:STN:280:CS2B3cvptFA%3D
    • (1972) Clin Orthop Relat Res. , vol.84 , pp. 9-13
    • Wynne-Davies, R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.