메뉴 건너뛰기




Volumn 15, Issue 10, 1999, Pages 409-417

Genetics of limb anomalies in humans

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN; FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR 1; FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR 3; FIBROBLAST GROWTH FACTOR 4; FIBROBLAST GROWTH FACTOR RECEPTOR; MORPHOGEN; SONIC HEDGEHOG PROTEIN; ZINC FINGER PROTEIN;

EID: 0033214729     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(99)01823-5     Document Type: Review
Times cited : (55)

References (44)
  • 2
    • 0027831551 scopus 로고
    • Syndactylies and polydactylies: Embryological overview and suggested classification
    • Winter, R.M. and Tickle, C. (1993) Syndactylies and polydactylies: embryological overview and suggested classification, Eur. J. Hum. Genet. 1,96-104
    • (1993) Eur. J. Hum. Genet. , vol.1 , pp. 96-104
    • Winter, R.M.1    Tickle, C.2
  • 3
    • 0031832082 scopus 로고    scopus 로고
    • Limbs are moving: Where are they going?
    • Schwabe, J.W.R. et al. (1998) Limbs are moving: where are they going? Trends Genet. 14, 229-235
    • (1998) Trends Genet. , vol.14 , pp. 229-235
    • Schwabe, J.W.R.1
  • 4
    • 0031956847 scopus 로고    scopus 로고
    • Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates
    • Jabs, E.W. (1998) Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clin. Genet. 53, 79-86
    • (1998) Clin. Genet. , vol.53 , pp. 79-86
    • Jabs, E.W.1
  • 5
    • 0031672928 scopus 로고    scopus 로고
    • The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development
    • Takahashi, M. et al. (1998) The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development. Development 125, 4417-4425
    • (1998) Development , vol.125 , pp. 4417-4425
    • Takahashi, M.1
  • 6
    • 0032589650 scopus 로고    scopus 로고
    • Gli3 (Xt) and formin (Id) participate in the positioning of the polarising region and control of posterior limb-bud identity
    • Zuniga, A. and Zeller, R. (1999) Gli3 (Xt) and formin (Id) participate in the positioning of the polarising region and control of posterior limb-bud identity. Development 126, 13-21
    • (1999) Development , vol.126 , pp. 13-21
    • Zuniga, A.1    Zeller, R.2
  • 7
    • 0031899912 scopus 로고    scopus 로고
    • Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
    • Vargas, F.R. et al. (1998) Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum. Genet. 102, 387-392
    • (1998) Hum. Genet. , vol.102 , pp. 387-392
    • Vargas, F.R.1
  • 8
    • 0032961403 scopus 로고    scopus 로고
    • Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
    • Zguricas, J. et al. (1999) Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. J. Med. Genet. 36, 32-40
    • (1999) J. Med. Genet. , vol.36 , pp. 32-40
    • Zguricas, J.1
  • 9
    • 0031745167 scopus 로고    scopus 로고
    • Limb development: Molecular dysmorphology is at hand
    • Innis, J.W. and Mortlock, O.P. (1998) Limb development: molecular dysmorphology is at hand. Clin. Genet. 53, 337-348
    • (1998) Clin. Genet. , vol.53 , pp. 337-348
    • Innis, J.W.1    Mortlock, O.P.2
  • 10
    • 0029750190 scopus 로고    scopus 로고
    • Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein
    • Vortkamp,A. et al. (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273, 613-622
    • (1996) Science , vol.273 , pp. 613-622
    • Vortkamp, A.1
  • 11
    • 0031592431 scopus 로고    scopus 로고
    • A new face of an old syndrome
    • Kelley, R.I. (1997) A new face of an old syndrome. Am. J. Med. Genet. 65, 251-256
    • (1997) Am. J. Med. Genet. , vol.65 , pp. 251-256
    • Kelley, R.I.1
  • 12
    • 12844276949 scopus 로고    scopus 로고
    • Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
    • Wicking, C. et al. (1997) Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am. J. Hum. Genet. 60, 21-26
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 21-26
    • Wicking, C.1
  • 13
    • 0030680207 scopus 로고    scopus 로고
    • Strike three for GLI3
    • Biesecker, LG. (1997) Strike three for GLI3. Hat Genet. 17, 259-260
    • (1997) Hat Genet. , vol.17 , pp. 259-260
    • Biesecker, L.G.1
  • 14
    • 0030856204 scopus 로고    scopus 로고
    • Point mutations in human GLI3 cause Greig syndrome
    • Wild, A. et al. (1997) Point mutations in human GLI3 cause Greig syndrome. Hum. Mol. Genet. 6, 1979-1984
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1979-1984
    • Wild, A.1
  • 15
    • 0031019090 scopus 로고    scopus 로고
    • GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
    • Kang, S. et al. (1997) GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat. Genet. 15, 266-268
    • (1997) Nat. Genet. , vol.15 , pp. 266-268
    • Kang, S.1
  • 16
    • 0031279063 scopus 로고    scopus 로고
    • Mutation in GLI3 in postaxial polydactylytypeA
    • Radhakrishna, U. et al. (1997) Mutation in GLI3 in postaxial polydactylytypeA. Hat Genet. 17, 269-271
    • (1997) Hat Genet. , vol.17 , pp. 269-271
    • Radhakrishna, U.1
  • 17
    • 0029022770 scopus 로고
    • Rubinstein-Taybi syndrome caused by mutations inthetranscriptional co-activator CBP
    • Petrij, F. et al. (1995) Rubinstein-Taybi syndrome caused by mutations inthetranscriptional co-activator CBP. Nature 36, 348-351
    • (1995) Nature , vol.36 , pp. 348-351
    • Petrij, F.1
  • 18
    • 0031747153 scopus 로고    scopus 로고
    • Limb and kidney defects in Lmxlb mutant mice suggest an involvement of LMX1B in human nail patella syndrome
    • Chen, H. et al. (1998) Limb and kidney defects in Lmxlb mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat. Genet. 19,51-55
    • (1998) Nat. Genet. , vol.19 , pp. 51-55
    • Chen, H.1
  • 19
    • 0031800728 scopus 로고    scopus 로고
    • Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
    • Dreyer, S.D.D. et al. (1998) Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 19, 47-50
    • (1998) Nat Genet. , vol.19 , pp. 47-50
    • Dreyer, S.D.D.1
  • 20
    • 0031750061 scopus 로고    scopus 로고
    • Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
    • Vollrath, D. et al. (1998) Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum. Mol. Genet. 7, 1091-1098
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1091-1098
    • Vollrath, D.1
  • 21
    • 0032471924 scopus 로고    scopus 로고
    • Mutation analysis of LMX1B gene in nail-patella syndrome patients
    • Mclntosh, I. et al. (1998) Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am. J. Hum. Genet. 63, 1651-1658
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1651-1658
    • Mclntosh, I.1
  • 22
    • 0030636780 scopus 로고    scopus 로고
    • Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome
    • Basson, C.T. et al. (1997) Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet. 15, 30-35
    • (1997) Nat. Genet. , vol.15 , pp. 30-35
    • Basson, C.T.1
  • 23
    • 1842413728 scopus 로고    scopus 로고
    • Holt-Oram syndrome is caused by mutations inTBXS, a member of the Brachyury (T) gene family
    • Li, Q.Y. et al. (1997) Holt-Oram syndrome is caused by mutations inTBXS, a member of the Brachyury (T) gene family. Nat Genet. 15, 21-29
    • (1997) Nat Genet. , vol.15 , pp. 21-29
    • Li, Q.Y.1
  • 24
    • 0030986873 scopus 로고    scopus 로고
    • Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
    • Bamshad, M. et al. (1997) Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet. 16, 311-315
    • (1997) Nat Genet. , vol.16 , pp. 311-315
    • Bamshad, M.1
  • 25
    • 0028610388 scopus 로고    scopus 로고
    • Cinical identification of a human equivalent to the short ear (se) murine phenotype
    • Lacombe, D. et al. (1996) Cinical identification of a human equivalent to the short ear (se) murine phenotype. Ann. Genet. 37,184-191
    • (1996) Ann. Genet. , vol.37 , pp. 184-191
    • Lacombe, D.1
  • 26
    • 0032577276 scopus 로고    scopus 로고
    • Noggin, cartilage morphogenesis and joint formation in the mammalian skeleton
    • Brunei, L.J. (1998) Noggin, cartilage morphogenesis and joint formation in the mammalian skeleton. Science 2, 1455-1457
    • (1998) Science , vol.2 , pp. 1455-1457
    • Brunei, L.J.1
  • 27
    • 0033052269 scopus 로고    scopus 로고
    • Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
    • Gong, Y. et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat. Genet. 21, 302-304
    • (1999) Nat. Genet. , vol.21 , pp. 302-304
    • Gong, Y.1
  • 28
    • 0029936784 scopus 로고    scopus 로고
    • A human chondrodysplasiadueto mutation in a TGF-beta superfamily member
    • Thomas, J.T. et al. (1996) A human chondrodysplasiadueto mutation in a TGF-beta superfamily member. Nat. Genet. 12, 315-317
    • (1996) Nat. Genet. , vol.12 , pp. 315-317
    • Thomas, J.T.1
  • 29
    • 0024577440 scopus 로고
    • A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type
    • Langer, L.O. et al. (1989) A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Hum. Genet. 81, 323-328
    • (1989) Hum. Genet. , vol.81 , pp. 323-328
    • Langer, L.O.1
  • 30
    • 0032231477 scopus 로고    scopus 로고
    • Acromesomelic dysplasia Maroteaux type maps to human chromosome 9
    • Kant, S.G. et al. (1998) Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. Am. J. Med. Genet. 63, 155-162
    • (1998) Am. J. Med. Genet. , vol.63 , pp. 155-162
    • Kant, S.G.1
  • 31
    • 0032539652 scopus 로고    scopus 로고
    • Grebe syndrome: Clinical and radiographie findings in affected individuals and heterozygous carriers
    • Costa, T. et al. (1998) Grebe syndrome: clinical and radiographie findings in affected individuals and heterozygous carriers. Am. J. Med. Genet. 75, 523-529
    • (1998) Am. J. Med. Genet. , vol.75 , pp. 523-529
    • Costa, T.1
  • 32
    • 0030763771 scopus 로고    scopus 로고
    • Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
    • Thomas, J.T. et al. (1997) Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat. Genet. 17, 58-64
    • (1997) Nat. Genet. , vol.17 , pp. 58-64
    • Thomas, J.T.1
  • 33
    • 0031230465 scopus 로고    scopus 로고
    • Mutations in CDMP1 cause autosomal dominant brachydactylytype C
    • Polinkovsky, A. et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactylytype C. Nat. Genet. 17, 18-19
    • (1997) Nat. Genet. , vol.17 , pp. 18-19
    • Polinkovsky, A.1
  • 34
    • 0030588589 scopus 로고    scopus 로고
    • Brachydactylytype C gene maps to chromosome 12q24
    • Polymeropoulos, M.H. et al. (1996) Brachydactylytype C gene maps to chromosome 12q24. Genomics 38, 45-50
    • (1996) Genomics , vol.38 , pp. 45-50
    • Polymeropoulos, M.H.1
  • 35
    • 0033069441 scopus 로고    scopus 로고
    • Brachydactylytype B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity
    • Oldridge, M. et al. (1999) Brachydactylytype B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. Am. J. Med. Genet. 64, 578-585
    • (1999) Am. J. Med. Genet. , vol.64 , pp. 578-585
    • Oldridge, M.1
  • 36
    • 0033073979 scopus 로고    scopus 로고
    • Brachydactylytype B: Clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation
    • Gong, Y. et al. (1999) Brachydactylytype B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. Am. J. Med. Genet. 64, 570-577
    • (1999) Am. J. Med. Genet. , vol.64 , pp. 570-577
    • Gong, Y.1
  • 37
    • 0031963876 scopus 로고    scopus 로고
    • Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
    • Kohlhase, J. et al. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat. Genet. 18, 81-83
    • (1998) Nat. Genet. , vol.18 , pp. 81-83
    • Kohlhase, J.1
  • 38
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki, Y. et al. (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272,548-551
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1
  • 39
    • 0030035153 scopus 로고    scopus 로고
    • Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families
    • Akarsu, Y. et al. (1996) Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum. Mol. Genet. 5, 945-952
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 945-952
    • Akarsu, Y.1
  • 40
    • 12644284524 scopus 로고    scopus 로고
    • Synpolydactyly phenotypes correlate with size of expansions in HOXd13 polyalanine tract
    • Goodman, F.R. et al. (1997) Synpolydactyly phenotypes correlate with size of expansions in HOXd13 polyalanine tract. Proc. Natl. Acad. Sci. U. S. A. 94, 7458-7463
    • (1997) Proc. Natl. Acad. Sci. U. S. A. , vol.94 , pp. 7458-7463
    • Goodman, F.R.1
  • 41
    • 0031015410 scopus 로고    scopus 로고
    • Polyalanine expansion in synpolydactyly might result from unequal crossing-over of Hoxd13
    • Warren, S.T. (1997) Polyalanine expansion in synpolydactyly might result from unequal crossing-over of Hoxd13. Science 275, 408-409
    • (1997) Science , vol.275 , pp. 408-409
    • Warren, S.T.1
  • 42
    • 0031833055 scopus 로고    scopus 로고
    • A new spontaneous mouse mutation of HoxdlS with a polyalanine expansion and phenotype similar to human synpolydactyly
    • Johnson, K.R. et al. (1998) A new spontaneous mouse mutation of HoxdlS with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum. Mol. Genet. 7, 1033-1038
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1033-1038
    • Johnson, K.R.1
  • 43
    • 0032231318 scopus 로고    scopus 로고
    • Deletions in HOXd13 segregate with an identical, novel foot malformation in two unrelated families
    • Goodman, F. et al. (1998) Deletions in HOXd13 segregate with an identical, novel foot malformation in two unrelated families. Am. 1. Hum. Genet. 63, 992-1000
    • (1998) Am. 1. Hum. Genet. , vol.63 , pp. 992-1000
    • Goodman, F.1
  • 44
    • 0031050961 scopus 로고    scopus 로고
    • Mutation of HOXA13 in Hand-foot-genital syndrome
    • Mortlock, D.P. and Innis, J.W. (1997) Mutation of HOXA13 in Hand-foot-genital syndrome. Nat. Genet. 15, 179-180
    • (1997) Nat. Genet. , vol.15 , pp. 179-180
    • Mortlock, D.P.1    Innis, J.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.