메뉴 건너뛰기




Volumn 127, Issue 6, 2010, Pages 675-683

Fine mapping of the 9q31 Hirschsprung's disease locus

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHINESE; CHROMOSOME 9Q; CHROMOSOME 9Q31; CODING; FAMILY; FEMALE; GENE LOCUS; GENE MAPPING; GENE REPLICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENOME; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION; NETHERLANDS; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; RET GENE; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN; CASE CONTROL STUDY; CHROMOSOME 9; CHROMOSOME MAP; DIGESTIVE SYSTEM; GENETICS; INNERVATION; METHODOLOGY; UREA CYCLE DISORDER;

EID: 77953443007     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0813-8     Document Type: Article
Times cited : (22)

References (47)
  • 1
    • 0034764984 scopus 로고    scopus 로고
    • Hirschsprung disease, associated syndromes, and genetics: A review
    • Amiel J, Lyonnet S (2001) Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38:729-739
    • (2001) J Med Genet , vol.38 , pp. 729-739
    • Amiel, J.1    Lyonnet, S.2
  • 4
    • 0030292383 scopus 로고    scopus 로고
    • Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
    • Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 14:341-344
    • (1996) Nat Genet , vol.14 , pp. 341-344
    • Angrist, M.1    Bolk, S.2    Halushka, M.3    Lapchak, P.A.4    Chakravarti, A.5
  • 8
    • 2442451296 scopus 로고    scopus 로고
    • Decreased density of ganglia and neurons in the myenteric plexus of familial dysautonomia patients
    • Bar-Shai A, Maayan C, Vromen A, Udassin R, Nissan A, Freund HR, Hanani M (2004) Decreased density of ganglia and neurons in the myenteric plexus of familial dysautonomia patients. J Neurol Sci 220:89-94
    • (2004) J Neurol Sci , vol.220 , pp. 89-94
    • Bar-Shai, A.1    Maayan, C.2    Vromen, A.3    Udassin, R.4    Nissan, A.5    Freund, H.R.6    Hanani, M.7
  • 14
    • 5544326532 scopus 로고    scopus 로고
    • Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease
    • Cantrell VA, Owens SE, Chandler RL, Airey DC, Bradley KM, Smith JR, Southard-Smith EM (2004) Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease. Hum Mol Genet 13:2289-2301
    • (2004) Hum Mol Genet , vol.13 , pp. 2289-2301
    • Cantrell, V.A.1    Owens, S.E.2    Chandler, R.L.3    Airey, D.C.4    Bradley, K.M.5    Smith, J.R.6    Southard-Smith, E.M.7
  • 15
    • 0036788576 scopus 로고    scopus 로고
    • Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
    • Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, Chakravarti A (2002) Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32:237-244
    • (2002) Nat Genet , vol.32 , pp. 237-244
    • Carrasquillo, M.M.1    McCallion, A.S.2    Puffenberger, E.G.3    Kashuk, C.S.4    Nouri, N.5    Chakravarti, A.6
  • 19
    • 0037029395 scopus 로고    scopus 로고
    • Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease
    • Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, Roesner D, Schackert HK (2002) Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet 359:1200-1205
    • (2002) Lancet , vol.359 , pp. 1200-1205
    • Fitze, G.1    Cramer, J.2    Ziegler, A.3    Schierz, M.4    Schreiber, M.5    Kuhlisch, E.6    Roesner, D.7    Schackert, H.K.8
  • 21
    • 0043023371 scopus 로고    scopus 로고
    • Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families
    • Fitze G, Cramer J, Serra A, Schreiber M, Roesner D, Schackert HK (2003b) Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families. Eur J Pediatr Surg 13:152-157
    • (2003) Eur J Pediatr Surg , vol.13 , pp. 152-157
    • Fitze, G.1    Cramer, J.2    Serra, A.3    Schreiber, M.4    Roesner, D.5    Schackert, H.K.6
  • 26
    • 33646489010 scopus 로고    scopus 로고
    • Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes
    • Heanue TA, Pachnis V (2006) Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes. Proc Natl Acad Sci USA 103:6919-6924
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 6919-6924
    • Heanue, T.A.1    Pachnis, V.2
  • 28
    • 0033366516 scopus 로고    scopus 로고
    • A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction
    • Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH (1999) A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet 64:304-308
    • (1999) Am J Hum Genet , vol.64 , pp. 304-308
    • Hofstra, R.M.1    Valdenaire, O.2    Arch, E.3    Osinga, J.4    Kroes, H.5    Loffler, B.M.6    Hamosh, A.7    Meijers, C.8    Buys, C.H.9
  • 30
    • 63449132897 scopus 로고    scopus 로고
    • Ventromedial hypothalamic lesions change the expression of neuron-related genes and immune-related genes in rat liver
    • Kiba T, Kintaka Y, Suzuki Y, Nakata E, Ishigaki Y, Inoue S (2009) Ventromedial hypothalamic lesions change the expression of neuron-related genes and immune-related genes in rat liver. Neurosci Lett 455:14-16
    • (2009) Neurosci Lett , vol.455 , pp. 14-16
    • Kiba, T.1    Kintaka, Y.2    Suzuki, Y.3    Nakata, E.4    Ishigaki, Y.5    Inoue, S.6
  • 31
    • 0037447462 scopus 로고    scopus 로고
    • Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
    • Lang D, Epstein JA (2003) Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet 12:937-945
    • (2003) Hum Mol Genet , vol.12 , pp. 937-945
    • Lang, D.1    Epstein, J.A.2
  • 32
    • 0033791525 scopus 로고    scopus 로고
    • Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret
    • Lang D, Chen F, Milewski R, Li J, Lu MM, Epstein JA (2000) Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J Clin Invest 106:963-971
    • (2000) J Clin Invest , vol.106 , pp. 963-971
    • Lang, D.1    Chen, F.2    Milewski, R.3    Li, J.4    Lu, M.M.5    Epstein, J.A.6
  • 33
    • 0037452581 scopus 로고    scopus 로고
    • Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb
    • McCallion AS, Stames E, Conlon RA, Chakravarti A (2003) Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci USA 100:1826-1831
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 1826-1831
    • McCallion, A.S.1    Stames, E.2    Conlon, R.A.3    Chakravarti, A.4
  • 35
    • 0037160024 scopus 로고    scopus 로고
    • Association of Lbc Rho guanine nucleotide exchange factor with alpha-catenin-related protein, alpha-catulin/CTNNAL1, supports serum response factor activation
    • Park B, Nguyen NT, Dutt P, Merdek KD, Bashar M, Sterpetti P, Tosolini A, Testa JR, Toksoz D (2002) Association of Lbc Rho guanine nucleotide exchange factor with alpha-catenin-related protein, alpha-catulin/CTNNAL1, supports serum response factor activation. J Biol Chem 277:45361-45370
    • (2002) J Biol Chem , vol.277 , pp. 45361-45370
    • Park, B.1    Nguyen, N.T.2    Dutt, P.3    Merdek, K.D.4    Bashar, M.5    Sterpetti, P.6    Tosolini, A.7    Testa, J.R.8    Toksoz, D.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.