메뉴 건너뛰기




Volumn 70, Issue 1, 2007, Pages 161-164

Association of Hypospadias with Hypoplastic Synpolydactyly and Role of HOXD13 Gene Mutations

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE;

EID: 34447524872     PISSN: 00904295     EISSN: 15279995     Source Type: Journal    
DOI: 10.1016/j.urology.2007.03.013     Document Type: Article
Times cited : (18)

References (22)
  • 1
    • 0029003180 scopus 로고
    • A large Turkish kindred with syndactyly type II (synpolydactyly): 2-homozygous phenotype
    • Akarsu A.N., Akhan O., Sayli B.S., et al. A large Turkish kindred with syndactyly type II (synpolydactyly): 2-homozygous phenotype. J Med Genet 32 (1995) 435-441
    • (1995) J Med Genet , vol.32 , pp. 435-441
    • Akarsu, A.N.1    Akhan, O.2    Sayli, B.S.3
  • 2
    • 0029073125 scopus 로고
    • A large Turkish kindred with syndactyly type II (synpolydactyly): 1-field investigation, clinical and pedigree data
    • Sayli B.S., Akarsu A.N., Sayli U., et al. A large Turkish kindred with syndactyly type II (synpolydactyly): 1-field investigation, clinical and pedigree data. J Med Genet 32 (1995) 421-434
    • (1995) J Med Genet , vol.32 , pp. 421-434
    • Sayli, B.S.1    Akarsu, A.N.2    Sayli, U.3
  • 3
    • 8644268956 scopus 로고    scopus 로고
    • Hypoplastic synpolydactyly as a new clinical subgroup of synpolydactyly
    • Kuru I., Samli H., Yucel A., et al. Hypoplastic synpolydactyly as a new clinical subgroup of synpolydactyly. J Hand Surg (Br) 29 (2004) 614-620
    • (2004) J Hand Surg (Br) , vol.29 , pp. 614-620
    • Kuru, I.1    Samli, H.2    Yucel, A.3
  • 4
    • 23144443113 scopus 로고    scopus 로고
    • Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly
    • Yucel A., Kuru I., Bozan M.E., et al. Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly. Skeletal Radiol 34 (2005) 468-476
    • (2005) Skeletal Radiol , vol.34 , pp. 468-476
    • Yucel, A.1    Kuru, I.2    Bozan, M.E.3
  • 5
    • 33747151297 scopus 로고    scopus 로고
    • Synpolydactyly of the foot in homozygotes
    • Kuru I., Maralcan G., Yucel A., et al. Synpolydactyly of the foot in homozygotes. J Am Podiatr Med Assoc 96 (2006) 297-304
    • (2006) J Am Podiatr Med Assoc , vol.96 , pp. 297-304
    • Kuru, I.1    Maralcan, G.2    Yucel, A.3
  • 6
    • 0030035153 scopus 로고    scopus 로고
    • Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families
    • Akarsu A.N., Stoilov I., Yilmaz E., et al. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 5 (1996) 945-952
    • (1996) Hum Mol Genet , vol.5 , pp. 945-952
    • Akarsu, A.N.1    Stoilov, I.2    Yilmaz, E.3
  • 7
    • 12644284524 scopus 로고    scopus 로고
    • Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
    • Goodman F.R., Mundlos S., Muragaki Y., et al. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci USA 94 (1997) 7458-7463
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 7458-7463
    • Goodman, F.R.1    Mundlos, S.2    Muragaki, Y.3
  • 8
    • 0043037247 scopus 로고    scopus 로고
    • Congenital anomalies of body patterning: embryology revisited
    • Goodman F.R. Congenital anomalies of body patterning: embryology revisited. Lancet 362 (2003) 651-662
    • (2003) Lancet , vol.362 , pp. 651-662
    • Goodman, F.R.1
  • 9
    • 0033005503 scopus 로고    scopus 로고
    • Epithelial-mesenchymal interactions in development of the mouse fetal genital tubercle
    • Kurzrock E.A., Baskin L.S., Li Y., et al. Epithelial-mesenchymal interactions in development of the mouse fetal genital tubercle. Cells Tissues Organs 164 (1999) 125-130
    • (1999) Cells Tissues Organs , vol.164 , pp. 125-130
    • Kurzrock, E.A.1    Baskin, L.S.2    Li, Y.3
  • 10
    • 0025939123 scopus 로고
    • HOX-4 genes and the morphogenesis of mammalian genitalia
    • Dolle P., Izpisua-Belmonte J.C., Brown J.M., et al. HOX-4 genes and the morphogenesis of mammalian genitalia. Genes Dev 5 (1991) 1767-1777
    • (1991) Genes Dev , vol.5 , pp. 1767-1777
    • Dolle, P.1    Izpisua-Belmonte, J.C.2    Brown, J.M.3
  • 11
    • 22344444818 scopus 로고    scopus 로고
    • Genitourinary functions of HOXA13 and HOXD13
    • Scott V., Morgan E.A., and Stadler H.S. Genitourinary functions of HOXA13 and HOXD13. J Biochem 137 (2005) 671-676
    • (2005) J Biochem , vol.137 , pp. 671-676
    • Scott, V.1    Morgan, E.A.2    Stadler, H.S.3
  • 12
    • 0030902178 scopus 로고    scopus 로고
    • Male accessory sex organ morphogenesis is altered by loss of function of HOXD13
    • Podlasek C.A., Duboule D., and Bushman W. Male accessory sex organ morphogenesis is altered by loss of function of HOXD13. Dev Dyn 208 (1997) 454-465
    • (1997) Dev Dyn , vol.208 , pp. 454-465
    • Podlasek, C.A.1    Duboule, D.2    Bushman, W.3
  • 13
    • 0031466723 scopus 로고    scopus 로고
    • Gene dosage dependent effects of the HOXA13 and HOXD13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts
    • Warot X., Fromental-Ramain C., Fraulob V., et al. Gene dosage dependent effects of the HOXA13 and HOXD13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts. Development 124 (1997) 4781-4791
    • (1997) Development , vol.124 , pp. 4781-4791
    • Warot, X.1    Fromental-Ramain, C.2    Fraulob, V.3
  • 14
    • 0036337116 scopus 로고    scopus 로고
    • Tail gut endoderm and gut/genitourinary/tail development: a new tissue-specific role for HOXA13
    • de Santa-Barbara P., and Roberts D. Tail gut endoderm and gut/genitourinary/tail development: a new tissue-specific role for HOXA13. Development 129 (2002) 551-561
    • (2002) Development , vol.129 , pp. 551-561
    • de Santa-Barbara, P.1    Roberts, D.2
  • 15
    • 23144464156 scopus 로고    scopus 로고
    • Comparative analysis of genes downstream of the HOXD cluster in developing digits and external genitalia
    • Cobb J., and Dubuole D. Comparative analysis of genes downstream of the HOXD cluster in developing digits and external genitalia. Development 132 (2005) 3055-3067
    • (2005) Development , vol.132 , pp. 3055-3067
    • Cobb, J.1    Dubuole, D.2
  • 16
    • 0030831642 scopus 로고    scopus 로고
    • Of fingers, toes and penises
    • Kondo T., Zakany J., Innis J., et al. Of fingers, toes and penises. Nature 390 (1997) 29
    • (1997) Nature , vol.390 , pp. 29
    • Kondo, T.1    Zakany, J.2    Innis, J.3
  • 17
    • 0029854152 scopus 로고    scopus 로고
    • Synpolydactyly in mice with a targeted deficiency in the HOXD complex
    • Zakany J., and Duboule D. Synpolydactyly in mice with a targeted deficiency in the HOXD complex. Nature 384 (1996) 69-71
    • (1996) Nature , vol.384 , pp. 69-71
    • Zakany, J.1    Duboule, D.2
  • 18
    • 0031050961 scopus 로고    scopus 로고
    • Mutation of HOXA13 in hand-foot-genital syndrome
    • Mortlock D.P., and Innis J.W. Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet 15 (1997) 179-181
    • (1997) Nat Genet , vol.15 , pp. 179-181
    • Mortlock, D.P.1    Innis, J.W.2
  • 19
    • 0033662329 scopus 로고    scopus 로고
    • A megakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation
    • Thompson A.A., and Nguyen L.T. A megakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 26 (2000) 397-398
    • (2000) Nat Genet , vol.26 , pp. 397-398
    • Thompson, A.A.1    Nguyen, L.T.2
  • 20
    • 0036582857 scopus 로고    scopus 로고
    • HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
    • Innis J.W., Goodman F.R., Bacchelli C., et al. HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mut 19 (2002) 573-574
    • (2002) Hum Mut , vol.19 , pp. 573-574
    • Innis, J.W.1    Goodman, F.R.2    Bacchelli, C.3
  • 21
    • 0033362083 scopus 로고    scopus 로고
    • Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster
    • Del Campo M., Jones M.C., Veraksa A.N., et al. Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Am J Hum Genet 65 (1999) 104-110
    • (1999) Am J Hum Genet , vol.65 , pp. 104-110
    • Del Campo, M.1    Jones, M.C.2    Veraksa, A.N.3
  • 22
    • 0029127807 scopus 로고
    • Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker
    • Sarfarazi M., Akarsu A.N., and Sayli B.S. Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Hum Mol Genet 4 (1995) 1453-1458
    • (1995) Hum Mol Genet , vol.4 , pp. 1453-1458
    • Sarfarazi, M.1    Akarsu, A.N.2    Sayli, B.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.