메뉴 건너뛰기




Volumn 92, Issue 5, 2007, Pages 287-295

Novel mutations of the HOXD13 gene in hand and foot malformations

Author keywords

Frameshift; Homeodomain; HOXD13; Premature stop codon; Synpolydactyly

Indexed keywords

HOMEODOMAIN PROTEIN; HOXD13 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

EID: 41049094397     PISSN: 00208868     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (14)

References (18)
  • 3
    • 0029963585 scopus 로고    scopus 로고
    • A mutational analysis of the 5′ HoxD genes: Dissection of genetic interactions during limb development in the mouse
    • Davis AP, Capecchi MR. A mutational analysis of the 5′ HoxD genes: dissection of genetic interactions during limb development in the mouse. Development 1996;122:1175-1185
    • (1996) Development , vol.122 , pp. 1175-1185
    • Davis, A.P.1    Capecchi, M.R.2
  • 4
    • 0029073125 scopus 로고
    • A large Turkish kindred with syndactyly type II (synpolydactyly): 1: field investigation, clinical and pedigree date
    • Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M. A large Turkish kindred with syndactyly type II (synpolydactyly): 1: field investigation, clinical and pedigree date. J Med Genet 1995;32:421-434
    • (1995) J Med Genet , vol.32 , pp. 421-434
    • Sayli, B.S.1    Akarsu, A.N.2    Sayli, U.3    Akhan, O.4    Ceylaner, S.5    Sarfarazi, M.6
  • 6
    • 0031015410 scopus 로고    scopus 로고
    • Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13
    • Warren ST. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. Science 1997; 275:408-409
    • (1997) Science , vol.275 , pp. 408-409
    • Warren, S.T.1
  • 7
    • 0036848639 scopus 로고    scopus 로고
    • Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13
    • Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet 2002;39:852-856
    • (2002) J Med Genet , vol.39 , pp. 852-856
    • Debeer, P.1    Bacchelli, C.2    Scambler, P.J.3    De Smet, L.4    Fryns, J.P.5    Goodman, F.R.6
  • 8
    • 0012800807 scopus 로고    scopus 로고
    • An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function
    • Caronia G, Goodman FR, McKeown CME, Scambler PJ, Zappavigna V. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development 2003;130: 1701-1712
    • (2003) Development , vol.130 , pp. 1701-1712
    • Caronia, G.1    Goodman, F.R.2    McKeown, C.M.E.3    Scambler, P.J.4    Zappavigna, V.5
  • 9
    • 0037383834 scopus 로고    scopus 로고
    • Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E
    • Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM et al. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet 2003;72:984-997
    • (2003) Am J Hum Genet , vol.72 , pp. 984-997
    • Johnson, D.1    Kan, S.H.2    Oldridge, M.3    Trembath, R.C.4    Roche, P.5    Esnouf, R.M.6
  • 12
    • 0041321415 scopus 로고    scopus 로고
    • An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations
    • Kan S, Johnson D, Giele H, Wilkie AOM. An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am J Med Genet 2003;121A:69-74
    • (2003) Am J Med Genet , vol.121 A , pp. 69-74
    • Kan, S.1    Johnson, D.2    Giele, H.3    Wilkie, A.O.M.4
  • 13
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996;272:548-551
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 14
    • 41049088310 scopus 로고    scopus 로고
    • Triplet repeat disease
    • Saito K. Triplet repeat disease. Shounika 2003;44:518-519
    • (2003) Shounika , vol.44 , pp. 518-519
    • Saito, K.1
  • 15
    • 33645232165 scopus 로고    scopus 로고
    • South Indian men with reduced CAG repeat length in the androgen receptor gene have an increased risk of prostate cancer
    • Krishnaswamy V, Kumarasamy T, Venkatesan V, Shroff S, Jayanth VR, Paul SFD. South Indian men with reduced CAG repeat length in the androgen receptor gene have an increased risk of prostate cancer. J Hum Genet 2006;51:254-257
    • (2006) J Hum Genet , vol.51 , pp. 254-257
    • Krishnaswamy, V.1    Kumarasamy, T.2    Venkatesan, V.3    Shroff, S.4    Jayanth, V.R.5    Paul, S.F.D.6
  • 16
    • 41049110947 scopus 로고    scopus 로고
    • Strachan T, Read AP. Human Molecular Genetics, 2nd edn. Tokyo: Medical Sciences International; 2001
    • Strachan T, Read AP. Human Molecular Genetics, 2nd edn. Tokyo: Medical Sciences International; 2001
  • 17
    • 0014517261 scopus 로고
    • The results of surgery for polydactyly of the thumb
    • Wassel HD. The results of surgery for polydactyly of the thumb. Clin Orthop Relat Res 1969;64:175-193
    • (1969) Clin Orthop Relat Res , vol.64 , pp. 175-193
    • Wassel, H.D.1
  • 18
    • 0008723356 scopus 로고    scopus 로고
    • A clinical review of polydactyly in the foot and postoperative results of lateral ray polydactyly
    • Konno M, Hirase Y. A clinical review of polydactyly in the foot and postoperative results of lateral ray polydactyly. Nippon Keiseigeka Gakkai Zasshi 1997;17:211-224
    • (1997) Nippon Keiseigeka Gakkai Zasshi , vol.17 , pp. 211-224
    • Konno, M.1    Hirase, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.