메뉴 건너뛰기




Volumn 14, Issue , 2008, Pages 2458-2465

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; EYE PROTEIN; GENOMIC DNA; GLUTAMIC ACID; GLYCINE; SLOAN KETTERING VIRAL ONCOGENE HOMOLOG; STIMULATED BY RETINOIC ACID 6; THYMINE; UNCLASSIFIED DRUG;

EID: 58049213890     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (32)

References (25)
  • 3
    • 0036053072 scopus 로고    scopus 로고
    • A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defects
    • Campbell H, Holmes E, MacDonald S, Morrison D, Jones I. A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defects. J Cancer Epidemiol Prev 2002; 7:21-8.
    • (2002) J Cancer Epidemiol Prev , vol.7 , pp. 21-28
    • Campbell, H.1    Holmes, E.2    MacDonald, S.3    Morrison, D.4    Jones, I.5
  • 5
    • 33646760234 scopus 로고    scopus 로고
    • Developmental malformations of the eye: The role of PAX6, SOX2 and OTX2
    • Hever AM, Williamson KA, van Heyningen V. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. Clin Genet 2006; 69:459-70.
    • (2006) Clin Genet , vol.69 , pp. 459-470
    • Hever, A.M.1    Williamson, K.A.2    van Heyningen, V.3
  • 6
    • 0031409876 scopus 로고    scopus 로고
    • Retinoic acid mediates Pax6 expression during in vitro differentiation of embryonic stem cells
    • Gajovic S, St-Onge L, Yokota Y, Gruss P. Retinoic acid mediates Pax6 expression during in vitro differentiation of embryonic stem cells. Differentiation 1997; 62:187-92.
    • (1997) Differentiation , vol.62 , pp. 187-192
    • Gajovic, S.1    St-Onge, L.2    Yokota, Y.3    Gruss, P.4
  • 8
    • 27344446379 scopus 로고    scopus 로고
    • Agonistic and antagonistic action of AP2, Msx2, Pax6, Prox1 AND Six3 in the regulation of Sox2 expression
    • Lengler J, Bittner T, Munster D, Gawad A, Graw J. Agonistic and antagonistic action of AP2, Msx2, Pax6, Prox1 AND Six3 in the regulation of Sox2 expression. Ophthalmic Res 2005; 37:301-9.
    • (2005) Ophthalmic Res , vol.37 , pp. 301-309
    • Lengler, J.1    Bittner, T.2    Munster, D.3    Gawad, A.4    Graw, J.5
  • 9
    • 42349085980 scopus 로고    scopus 로고
    • Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/ microphthalmia
    • Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, schimmenti LA, Schneider A, Young TL. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/ microphthalmia. Mol Vis 2008; 14:583-92.
    • (2008) Mol Vis , vol.14 , pp. 583-592
    • Zhou, J.1    Kherani, F.2    Bardakjian, T.M.3    Katowitz, J.4    Hughes, N.5    schimmenti, L.A.6    Schneider, A.7    Young, T.L.8
  • 10
    • 33847215172 scopus 로고    scopus 로고
    • Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 2007; 80:550-60.
    • Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 2007; 80:550-60.
  • 14
    • 33847291445 scopus 로고    scopus 로고
    • STRA6, a cell-surface receptor for retinol-binding protein: The plot thickens
    • Blaner WS. STRA6, a cell-surface receptor for retinol-binding protein: the plot thickens. Cell Metab 2007; 5:164-6.
    • (2007) Cell Metab , vol.5 , pp. 164-166
    • Blaner, W.S.1
  • 16
    • 0013596384 scopus 로고
    • Maternal vitamin A deficiency and fetal microcephaly and anophthalmia; report of a case
    • Sarma V. Maternal vitamin A deficiency and fetal microcephaly and anophthalmia; report of a case. Obstet Gynecol 1959; 13:299-301.
    • (1959) Obstet Gynecol , vol.13 , pp. 299-301
    • Sarma, V.1
  • 17
    • 0036334452 scopus 로고    scopus 로고
    • Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/ - mice
    • Colmenares C, Heilstedt HA, Shaffer LG, Schwartz S, Berk M, Murray JC, Stavnezer E. Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/ - mice. Nat Genet 2002; 30:106-9.
    • (2002) Nat Genet , vol.30 , pp. 106-109
    • Colmenares, C.1    Heilstedt, H.A.2    Shaffer, L.G.3    Schwartz, S.4    Berk, M.5    Murray, J.C.6    Stavnezer, E.7
  • 20
    • 0032529159 scopus 로고    scopus 로고
    • Smads and early developmental signaling by the TGFbeta superfamily
    • Whitman M. Smads and early developmental signaling by the TGFbeta superfamily. Genes Dev 1998; 12:2445-62.
    • (1998) Genes Dev , vol.12 , pp. 2445-2462
    • Whitman, M.1
  • 21
    • 2442475453 scopus 로고    scopus 로고
    • Isoform-specific changes in scleral transforming growth factor-beta expression and the regulation of collagen synthesis during myopia progression
    • Jobling AI, Nguyen M, Gentle A, McBrien NA. Isoform-specific changes in scleral transforming growth factor-beta expression and the regulation of collagen synthesis during myopia progression. J Biol Chem 2004; 279:18121-6.
    • (2004) J Biol Chem , vol.279 , pp. 18121-18126
    • Jobling, A.I.1    Nguyen, M.2    Gentle, A.3    McBrien, N.A.4
  • 22
    • 0032530460 scopus 로고    scopus 로고
    • Transformation of hematopoietic cells by the Ski oncoprotein involves repression of retinoic acid receptor signaling
    • Dahl R, Kieslinger M, Beug H, Hayman MJ. Transformation of hematopoietic cells by the Ski oncoprotein involves repression of retinoic acid receptor signaling. Proc Natl Acad Sci USA 1998; 95:11187-92.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 11187-11192
    • Dahl, R.1    Kieslinger, M.2    Beug, H.3    Hayman, M.J.4
  • 24
    • 43249125824 scopus 로고    scopus 로고
    • Mapping the membrane topology and extracellular ligand binding domains of the retinol binding protein receptor
    • Kawaguchi R, Yu J, Wiita P, Ter-Stepanian M, Sun H. Mapping the membrane topology and extracellular ligand binding domains of the retinol binding protein receptor. Biochemistry 2008; 47:5387-95.
    • (2008) Biochemistry , vol.47 , pp. 5387-5395
    • Kawaguchi, R.1    Yu, J.2    Wiita, P.3    Ter-Stepanian, M.4    Sun, H.5
  • 25
    • 47249101742 scopus 로고    scopus 로고
    • An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism
    • Kawaguchi R, Yu J, Wiita P, Honda J, Sun H. An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism. J Biol Chem 2008; 283:15160-8.
    • (2008) J Biol Chem , vol.283 , pp. 15160-15168
    • Kawaguchi, R.1    Yu, J.2    Wiita, P.3    Honda, J.4    Sun, H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.