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Volumn 23, Issue 9, 2015, Pages 1262-1265

A human laterality disorder associated with a homozygous WDR16 deletion

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; CARRIER PROTEIN; WDR16 PROTEIN, HUMAN;

EID: 84939266802     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.265     Document Type: Review
Times cited : (38)

References (15)
  • 1
    • 35448961665 scopus 로고    scopus 로고
    • When cilia go bad: Cilia defects and ciliopathies
    • Fliegauf M, Benzing T, Omran H: When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 2007; 8: 880-893.
    • (2007) Nat Rev Mol Cell Biol , vol.8 , pp. 880-893
    • Fliegauf, M.1    Benzing, T.2    Omran, H.3
  • 2
    • 33749048278 scopus 로고    scopus 로고
    • The key to left-right asymmetry
    • Tabin CJ: The key to left-right asymmetry. Cell 2006; 127: 27-32.
    • (2006) Cell , vol.127 , pp. 27-32
    • Tabin, C.J.1
  • 3
    • 0347003520 scopus 로고    scopus 로고
    • Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects
    • Ware SM, Peng J, Zhu L et al: Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004; 74: 93-105.
    • (2004) Am J Hum Genet , vol.74 , pp. 93-105
    • Ware, S.M.1    Peng, J.2    Zhu, L.3
  • 4
    • 0033768239 scopus 로고    scopus 로고
    • Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects
    • Bamford RN, Roessler E, Burdine RD et al: Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 2000; 26: 365-369.
    • (2000) Nat Genet , vol.26 , pp. 365-369
    • Bamford, R.N.1    Roessler, E.2    Burdine, R.D.3
  • 5
    • 84864080887 scopus 로고    scopus 로고
    • A human laterality disorder associated with recessive CCDC11 mutation
    • Perles Z, Cinnamon Y, Ta-Shma A et al: A human laterality disorder associated with recessive CCDC11 mutation. J Med Genet 2012; 49: 386-390.
    • (2012) J Med Genet , vol.49 , pp. 386-390
    • Perles, Z.1    Cinnamon, Y.2    Ta-Shma, A.3
  • 6
    • 35348983348 scopus 로고    scopus 로고
    • Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
    • Edvardson S, Shaag A, Kolesnikova O et al: Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 2007; 81: 857-862.
    • (2007) Am J Hum Genet , vol.81 , pp. 857-862
    • Edvardson, S.1    Shaag, A.2    Kolesnikova, O.3
  • 7
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rödelsperger C, Schuelke M, Seelow D: MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575-576.
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rödelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 8
    • 84867336373 scopus 로고    scopus 로고
    • Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2
    • Yoshiba S, Shiratori H, Kuo IY et al: Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2. Science 2012; 338: 226-231.
    • (2012) Science , vol.338 , pp. 226-231
    • Yoshiba, S.1    Shiratori, H.2    Kuo, I.Y.3
  • 9
    • 33947288981 scopus 로고    scopus 로고
    • Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish
    • Hirschner W, Pogoda HM, Kramer C et al: Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish. J Neurochem 2007; 101: 274-288.
    • (2007) J Neurochem , vol.101 , pp. 274-288
    • Hirschner, W.1    Pogoda, H.M.2    Kramer, C.3
  • 10
    • 35748935579 scopus 로고    scopus 로고
    • The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules
    • Dawe HR, Shaw MK, Farr H, Gull K: The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules. BMC Biol 2007; 5: 33.
    • (2007) BMC Biol , vol.5 , pp. 33
    • Dawe, H.R.1    Shaw, M.K.2    Farr, H.3    Gull, K.4
  • 11
    • 84867244938 scopus 로고    scopus 로고
    • Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
    • Olbrich H, Schmidts M, Werner C et al: Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet 2012; 91: 672-684.
    • (2012) Am J Hum Genet , vol.91 , pp. 672-684
    • Olbrich, H.1    Schmidts, M.2    Werner, C.3
  • 12
    • 84885302492 scopus 로고    scopus 로고
    • Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms
    • Knowles MR, Ostrowski LE, Loges NT et al: Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet 2013; 93: 711-720.
    • (2013) Am J Hum Genet , vol.93 , pp. 711-720
    • Knowles, M.R.1    Ostrowski, L.E.2    Loges, N.T.3
  • 13
    • 84875821964 scopus 로고    scopus 로고
    • Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy
    • D'Alessandro LC, Casey B, Siu VM: Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy. Congenit Heart Dis 2013; 8: E36-E40.
    • (2013) Congenit Heart Dis , vol.8 , pp. E36-E40
    • D'Alessandro, L.C.1    Casey, B.2    Siu, V.M.3
  • 14
    • 34247598971 scopus 로고    scopus 로고
    • Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
    • Kennedy MP, Omran H, Leigh MW et al: Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007; 115: 2814-2821.
    • (2007) Circulation , vol.115 , pp. 2814-2821
    • Kennedy, M.P.1    Omran, H.2    Leigh, M.W.3
  • 15
    • 84860720930 scopus 로고    scopus 로고
    • High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy
    • Nakhleh N, Francis R, Giese RA et al: High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation 2012; 125: 2232-2242.
    • (2012) Circulation , vol.125 , pp. 2232-2242
    • Nakhleh, N.1    Francis, R.2    Giese, R.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.