메뉴 건너뛰기




Volumn 155, Issue 9, 2011, Pages 2170-2179

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot

Author keywords

Association study; Clubfoot; Contraction; Distal arthrogryposis; Genetics; Muscle

Indexed keywords

CONTRACTILE PROTEIN; MUSCLE CONTRACTILE PROTEIN; MUSCLE PROTEIN; PROTEIN MYH3; PROTEIN MYH8; PROTEIN TNNI2; PROTEIN TNNT3; TROPOMYOSIN; TROPOMYOSIN 2; UNCLASSIFIED DRUG;

EID: 81155160845     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34167     Document Type: Article
Times cited : (36)

References (57)
  • 1
    • 0034017850 scopus 로고    scopus 로고
    • GOLD-Graphical overview of linkage disequilibrium
    • Abecasis GR, Cookson WO. 2000. GOLD-Graphical overview of linkage disequilibrium. Bioinformatics 16: 182-183.
    • (2000) Bioinformatics , vol.16 , pp. 182-183
    • Abecasis, G.R.1    Cookson, W.O.2
  • 2
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-Rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis GR, Cherny SS, Cookson WO, Cardon LR. 2002. Merlin-Rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30: 97-101.
    • (2002) Nat Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 3
    • 0029807941 scopus 로고    scopus 로고
    • A revised and extended classification of the distal arthrogryposes
    • Bamshad M, Jorde LB, Carey JC. 1996. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65: 277-281.
    • (1996) Am J Med Genet , vol.65 , pp. 277-281
    • Bamshad, M.1    Jorde, L.B.2    Carey, J.C.3
  • 4
    • 0037371158 scopus 로고    scopus 로고
    • Genetics and epidemiology of idiopathic congenital talipes equinovarus
    • Barker S, Chesney D, Miedzybrodzka Z, Maffulli N. 2003. Genetics and epidemiology of idiopathic congenital talipes equinovarus. J Pediatr Orthop 23: 265-272.
    • (2003) J Pediatr Orthop , vol.23 , pp. 265-272
    • Barker, S.1    Chesney, D.2    Miedzybrodzka, Z.3    Maffulli, N.4
  • 5
    • 0018167406 scopus 로고
    • Club foot in the Maori: A genetic study of 50 kindreds
    • Beals RK. 1978. Club foot in the Maori: A genetic study of 50 kindreds. N Z Med J 88: 144-146.
    • (1978) N Z Med J , vol.88 , pp. 144-146
    • Beals, R.K.1
  • 7
    • 0001343108 scopus 로고
    • Embryologic origin of clubfoot
    • Bohm M. 1929. Embryologic origin of clubfoot. J Bone Joint Surg 11: 229-259.
    • (1929) J Bone Joint Surg , vol.11 , pp. 229-259
    • Bohm, M.1
  • 8
    • 20144378751 scopus 로고    scopus 로고
    • Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): Case report and literature review
    • Carlos R, Contreras E, Cabrera J. 2005. Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): Case report and literature review. Oral Dis 11: 186-189.
    • (2005) Oral Dis , vol.11 , pp. 186-189
    • Carlos, R.1    Contreras, E.2    Cabrera, J.3
  • 9
    • 0014621539 scopus 로고
    • Genetic and epidemiological studies of clubfoot in Hawaii. General and medical considerations
    • Chung CS, Nemechek RW, Larsen IJ, Ching GH. 1969. Genetic and epidemiological studies of clubfoot in Hawaii. General and medical considerations. Hum Hered 19: 321-342.
    • (1969) Hum Hered , vol.19 , pp. 321-342
    • Chung, C.S.1    Nemechek, R.W.2    Larsen, I.J.3    Ching, G.H.4
  • 10
    • 33748042711 scopus 로고    scopus 로고
    • The APL test: Extension to general nuclear families and haplotypes and examination of its robustness
    • Chung RH, Hauser ER, Martin ER. 2006. The APL test: Extension to general nuclear families and haplotypes and examination of its robustness. Hum Hered 61: 189-199.
    • (2006) Hum Hered , vol.61 , pp. 189-199
    • Chung, R.H.1    Hauser, E.R.2    Martin, E.R.3
  • 15
    • 0028348250 scopus 로고
    • The pathogenesis of club foot. A histomorphometric and immunohistochemical study of fetuses
    • Fukuhara K, Schollmeier G, Uhthoff HK. 1994. The pathogenesis of club foot. A histomorphometric and immunohistochemical study of fetuses. J Bone Joint Surg Br 76: 450-457.
    • (1994) J Bone Joint Surg Br , vol.76 , pp. 450-457
    • Fukuhara, K.1    Schollmeier, G.2    Uhthoff, H.K.3
  • 17
    • 0034059761 scopus 로고    scopus 로고
    • Regulation of contraction in striated muscle
    • Gordon AM, Homsher E, Regnier M. 2000. Regulation of contraction in striated muscle. Physiol Rev 80: 853-924.
    • (2000) Physiol Rev , vol.80 , pp. 853-924
    • Gordon, A.M.1    Homsher, E.2    Regnier, M.3
  • 18
    • 0036133044 scopus 로고    scopus 로고
    • AliBaba2: Context specific identification of transcription factor binding sites
    • Grabe N. 2002. AliBaba2: Context specific identification of transcription factor binding sites. In Silico Biol 2: S1-S15.
    • (2002) In Silico Biol , vol.2
    • Grabe, N.1
  • 19
    • 64849097074 scopus 로고    scopus 로고
    • Skeletal muscle contractile gene (TNNT3, MYH3, PM2) mutations not found in vertical talus or clubfoot
    • Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB. 2009. Skeletal muscle contractile gene (TNNT3, MYH3, PM2) mutations not found in vertical talus or clubfoot. Clin Orthop Relat Res 467: 1195-1200.
    • (2009) Clin Orthop Relat Res , vol.467 , pp. 1195-1200
    • Gurnett, C.A.1    Alaee, F.2    Desruisseau, D.3    Boehm, S.4    Dobbs, M.B.5
  • 20
    • 38049026234 scopus 로고    scopus 로고
    • Methods for interaction analyses using family-based case-control data: Conditional logistic regression versus generalized estimating equations
    • Hancock DB, Martin ER, Li YJ, Scott WK. 2007. Methods for interaction analyses using family-based case-control data: Conditional logistic regression versus generalized estimating equations. Genet Epidemiol 31: 883-893.
    • (2007) Genet Epidemiol , vol.31 , pp. 883-893
    • Hancock, D.B.1    Martin, E.R.2    Li, Y.J.3    Scott, W.K.4
  • 22
    • 24144445083 scopus 로고    scopus 로고
    • Variation in CASP10 gene is associated with idiopathic talipes equinovarus
    • Heck AL, Bray MS, Scott A, Blanton SH, Hecht JT. 2005. Variation in CASP10 gene is associated with idiopathic talipes equinovarus. J Pediatr Orthop 25: 598-602.
    • (2005) J Pediatr Orthop , vol.25 , pp. 598-602
    • Heck, A.L.1    Bray, M.S.2    Scott, A.3    Blanton, S.H.4    Hecht, J.T.5
  • 23
    • 71249091235 scopus 로고    scopus 로고
    • Gene-environment interaction tests for dichotomous traits in trios and sibships
    • Hoffmann TJ, Lange C, Vansteelandt S, Laird NM. 2009. Gene-environment interaction tests for dichotomous traits in trios and sibships. Genet Epidemiol 33: 691-699.
    • (2009) Genet Epidemiol , vol.33 , pp. 691-699
    • Hoffmann, T.J.1    Lange, C.2    Vansteelandt, S.3    Laird, N.M.4
  • 24
    • 27944432570 scopus 로고    scopus 로고
    • The management of congenital talipes equinovarus
    • Hulme A. 2005. The management of congenital talipes equinovarus. Early Hum Dev 81: 797-802.
    • (2005) Early Hum Dev , vol.81 , pp. 797-802
    • Hulme, A.1
  • 25
    • 0001594715 scopus 로고
    • Die Ergebnisseder Zwillingsforschung beim angeborenen Klumpfu
    • Idelberger K. 1939. Die Ergebnisseder Zwillingsforschung beim angeborenen Klumpfu. Verh Dtsch Orthop Ges 33: 272-276.
    • (1939) Verh Dtsch Orthop Ges , vol.33 , pp. 272-276
    • Idelberger, K.1
  • 26
    • 0015333623 scopus 로고
    • The pathological anatomy of idiopathic clubfoot
    • Irani RN, Sherman MS. 1972. The pathological anatomy of idiopathic clubfoot. Clin Orthop Relat Res 84: 14-20.
    • (1972) Clin Orthop Relat Res , vol.84 , pp. 14-20
    • Irani, R.N.1    Sherman, M.S.2
  • 27
    • 0017752634 scopus 로고
    • The muscles in club foot-A histological histochemical and electron microscopic study
    • Isaacs H, Handelsman JE, Badenhorst M, Pickering A. 1977. The muscles in club foot-A histological histochemical and electron microscopic study. J Bone Joint Surg Br 59-B: 465-472.
    • (1977) J Bone Joint Surg Br , vol.59 , pp. 465-472
    • Isaacs, H.1    Handelsman, J.E.2    Badenhorst, M.3    Pickering, A.4
  • 28
    • 48949118893 scopus 로고    scopus 로고
    • Genetic variants in IRF6 and the risk of facial clefts: Single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway
    • Jugessur A, Rahimov F, Lie RT, Wilcox AJ, Gjessing HK, Nilsen RM, Nguyen TT, Murray JC. 2008. Genetic variants in IRF6 and the risk of facial clefts: Single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Genet Epidemiol 32: 413-424.
    • (2008) Genet Epidemiol , vol.32 , pp. 413-424
    • Jugessur, A.1    Rahimov, F.2    Lie, R.T.3    Wilcox, A.J.4    Gjessing, H.K.5    Nilsen, R.M.6    Nguyen, T.T.7    Murray, J.C.8
  • 30
    • 34548726841 scopus 로고    scopus 로고
    • Silent SNPs: Impact on gene function and phenotype
    • Komar AA. 2007. Silent SNPs: Impact on gene function and phenotype. Pharmacogenomics 8: 1075-1080.
    • (2007) Pharmacogenomics , vol.8 , pp. 1075-1080
    • Komar, A.A.1
  • 32
    • 57349115537 scopus 로고    scopus 로고
    • Polygenic threshold model with sex dimorphism in clubfoot inheritance: The Carter effect
    • Kruse LM, Dobbs MB, Gurnett CA. 2008. Polygenic threshold model with sex dimorphism in clubfoot inheritance: The Carter effect. J Bone Joint Surg Am 90: 2688-2694.
    • (2008) J Bone Joint Surg Am , vol.90 , pp. 2688-2694
    • Kruse, L.M.1    Dobbs, M.B.2    Gurnett, C.A.3
  • 34
    • 0033910787 scopus 로고    scopus 로고
    • A test for linkage and association in general pedigrees: The pedigree disequilibrium test
    • Martin ER, Monks SA, Warren LL, Kaplan NL. 2000. A test for linkage and association in general pedigrees: The pedigree disequilibrium test. Am J Hum Genet 67: 146-154.
    • (2000) Am J Hum Genet , vol.67 , pp. 146-154
    • Martin, E.R.1    Monks, S.A.2    Warren, L.L.3    Kaplan, N.L.4
  • 38
    • 0016192958 scopus 로고
    • Analysis of family resemblance. 3. Complex segregation of quantitative traits
    • Morton NE, MacLean CJ. 1974. Analysis of family resemblance. 3. Complex segregation of quantitative traits. Am J Hum Genet 26: 489-503.
    • (1974) Am J Hum Genet , vol.26 , pp. 489-503
    • Morton, N.E.1    MacLean, C.J.2
  • 40
    • 0034841005 scopus 로고    scopus 로고
    • Vertebrate tropomyosin: Distribution, properties and function
    • Perry SV. 2001. Vertebrate tropomyosin: Distribution, properties and function. J Muscle Res Cell Motil 22: 5-49.
    • (2001) J Muscle Res Cell Motil , vol.22 , pp. 5-49
    • Perry, S.V.1
  • 43
    • 77949656110 scopus 로고    scopus 로고
    • Polymorphisms in the tropomyosin TPM1 short isoform promoter alter gene expression and are associated with increased risk of metabolic syndrome
    • Savill SA, Leitch HF, Daly AK, Harvey JN, Thomas TH. 2010. Polymorphisms in the tropomyosin TPM1 short isoform promoter alter gene expression and are associated with increased risk of metabolic syndrome. Am J Hypertens 23: 399-404.
    • (2010) Am J Hypertens , vol.23 , pp. 399-404
    • Savill, S.A.1    Leitch, H.F.2    Daly, A.K.3    Harvey, J.N.4    Thomas, T.H.5
  • 44
    • 0029896830 scopus 로고    scopus 로고
    • Molecular diversity of myofibrillar proteins: Gene regulation and functional significance
    • Schiaffino S, Reggiani C. 1996. Molecular diversity of myofibrillar proteins: Gene regulation and functional significance. Physiol Rev 76: 371-423.
    • (1996) Physiol Rev , vol.76 , pp. 371-423
    • Schiaffino, S.1    Reggiani, C.2
  • 45
    • 26444442910 scopus 로고    scopus 로고
    • Using TESS to predict transcription factor binding sites in DNA sequence
    • In: Baxevanis AD, editor. Hobokem, NJ: John Wiley and Sons, Inc. 2: p -
    • Schug J. 2003. Using TESS to predict transcription factor binding sites in DNA sequence. In: Baxevanis AD, editor. Current protocols in bioinformatics. Hobokem, NJ: John Wiley and Sons, Inc. 2: p 2.6.1-2.6.15.
    • (2003) Current protocols in bioinformatics , pp. 261-2615
    • Schug, J.1
  • 48
    • 0038389782 scopus 로고    scopus 로고
    • Mutations in TNNT3 cause multiple congenital contractures: A second locus for distal arthrogryposis type 2B
    • Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. 2003b. Mutations in TNNT3 cause multiple congenital contractures: A second locus for distal arthrogryposis type 2B. Am J Hum Genet 73: 212-214.
    • (2003) Am J Hum Genet , vol.73 , pp. 212-214
    • Sung, S.S.1    Brassington, A.M.2    Krakowiak, P.A.3    Carey, J.C.4    Jorde, L.B.5    Bamshad, M.6
  • 50
    • 0023874142 scopus 로고
    • Anaesthetic implications of the trismus pseudocamptodactyly (Dutch-Kentucky or Hecht Beals) syndrome
    • Vaghadia H, Blackstock D. 1988. Anaesthetic implications of the trismus pseudocamptodactyly (Dutch-Kentucky or Hecht Beals) syndrome. Can J Anaesth 35: 80-85.
    • (1988) Can J Anaesth , vol.35 , pp. 80-85
    • Vaghadia, H.1    Blackstock, D.2
  • 51
    • 0033925716 scopus 로고    scopus 로고
    • Testing for linkage disequilibrium, maternal effects, and imprinting with (In)complete case-parent triads, by use of the computer program LEM
    • van Den Oord EJ, Vermunt JK. 2000. Testing for linkage disequilibrium, maternal effects, and imprinting with (In)complete case-parent triads, by use of the computer program LEM. Am J Hum Genet 66: 335-338.
    • (2000) Am J Hum Genet , vol.66 , pp. 335-338
    • van Den Oord, E.J.1    Vermunt, J.K.2
  • 54
    • 0031949066 scopus 로고    scopus 로고
    • A log-linear approach to case-parent-triad data: Assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting
    • Weinberg CR, Wilcox AJ, Lie RT. 1998. A log-linear approach to case-parent-triad data: Assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am J Hum Genet 62: 969-978.
    • (1998) Am J Hum Genet , vol.62 , pp. 969-978
    • Weinberg, C.R.1    Wilcox, A.J.2    Lie, R.T.3
  • 55
    • 0032211487 scopus 로고    scopus 로고
    • Distinguishing the effects of maternal and offspring genes through studies of "case-parent triads
    • quot;.: -
    • Wilcox AJ, Weinberg CR, Lie RT. 1998. Distinguishing the effects of maternal and offspring genes through studies of "case-parent triads". Am J Epidemiol 148: 893-901.
    • (1998) Am J Epidemiol , vol.148 , pp. 893-901
    • Wilcox, A.J.1    Weinberg, C.R.2    Lie, R.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.