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Volumn 5, Issue 5, 2010, Pages

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

(20)  Chao, Ryan a   Nevin, Linda b   Agarwal, Pooja b   Riemer, Jan c   Bai, Xiaoyang b   Delaney, Allen d   Akana, Matthew b   Jimenezlopez, Nelson a   Bardakjian, Tanya e   Schneider, Adele e   Chassaing, Nicolas f   Schorderet, Daniel F g   Fitzpatrick, David h   Kwok, Pui Yan b   Ellgaard, Lars c   Gould, Douglas B b   Zhang, Yan i   Malicki, Jarema i   Baier, Herwig b   Slavotinek, Anne a  


Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; CADHERIN 19; COILED COIL DOMAIN CONTAINING 102B PROTEIN; DERMATAN SULFATE EPIMERASE LIKE PROTEIN; GENE PRODUCT; MESSENGER RNA; THIOREDOXIN; THIOREDOXIN DOMAIN CONTAINING 10 PROTEIN; UNCLASSIFIED DRUG;

EID: 77956270600     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0010565     Document Type: Article
Times cited : (30)

References (40)
  • 4
    • 77956397237 scopus 로고    scopus 로고
    • Development of the Eye
    • Epstein CJ, Erickson RP, Wynshaw-Boris A, eds., Oxford: Oxford University Press
    • Rainger J, Van Heyningen V, FitzPatrick DR (2008) Development of the Eye. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, eds. Inborn Errors of Development. Oxford: Oxford University Press. pp 94-106.
    • (2008) Inborn Errors of Development , pp. 94-106
    • Rainger, J.1    van Heyningen, V.2    Fitzpatrick, D.R.3
  • 5
    • 60849094464 scopus 로고    scopus 로고
    • Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure
    • Brown JD, Dutta S, Bharti K, Bonner RF, Munson PJ, et al. (2005) Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure. Proc Natl Acad Sci U S A 106: 1462-1467.
    • (2005) Proc Natl Acad Sci U S A , vol.106 , pp. 1462-1467
    • Brown, J.D.1    Dutta, S.2    Bharti, K.3    Bonner, R.F.4    Munson, P.J.5
  • 8
    • 0030979167 scopus 로고    scopus 로고
    • Rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina
    • Furukawa T, Kozak CA, Cepko CL (1997) rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina. Proc Natl Acad Sci U S A 94: 3088-3093.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 3088-3093
    • Furukawa, T.1    Kozak, C.A.2    Cepko, C.L.3
  • 9
    • 13344249785 scopus 로고    scopus 로고
    • Ocular retardation mouse caused by Chx10 homeobox null allele: Impaired retinal progenitor proliferation and bipolar cell differentiation
    • Burmeister M, Novak J, Liang MY, Basu S, Ploder L, et al. (1996) Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation. Nat Genet 12: 376-384.
    • (1996) Nat Genet , vol.12 , pp. 376-384
    • Burmeister, M.1    Novak, J.2    Liang, M.Y.3    Basu, S.4    Ploder, L.5
  • 10
    • 34249680839 scopus 로고    scopus 로고
    • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    • Stankiewicz P, Beaudet AL (2007) Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17: 182-192.
    • (2007) Curr Opin Genet Dev , vol.17 , pp. 182-192
    • Stankiewicz, P.1    Beaudet, A.L.2
  • 11
    • 34249000299 scopus 로고    scopus 로고
    • Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients
    • Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D (2007) Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 28: 2778-2784.
    • (2007) Eur Heart J , vol.28 , pp. 2778-2784
    • Thienpont, B.1    Mertens, L.2    de Ravel, T.3    Eyskens, B.4    Boshoff, D.5
  • 12
    • 39149129958 scopus 로고    scopus 로고
    • Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
    • Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, et al. (2008) Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. J Med Genet 45: 81-86.
    • (2008) J Med Genet , vol.45 , pp. 81-86
    • Osoegawa, K.1    Vessere, G.M.2    Utami, K.H.3    Mansilla, M.A.4    Johnson, M.K.5
  • 13
    • 30144437475 scopus 로고    scopus 로고
    • Findings from aCGH in patients with congenital diaphragmaticatic hernia (CDH): A possible locus for Fryns syndrome
    • Kantarci S, Casavant D, Prada C, Russell M, Byrne J, et al. (2006) Findings from aCGH in patients with congenital diaphragmaticatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A 140: 17-23.
    • (2006) Am J Med Genet A , vol.140 , pp. 17-23
    • Kantarci, S.1    Casavant, D.2    Prada, C.3    Russell, M.4    Byrne, J.5
  • 14
    • 33747768579 scopus 로고    scopus 로고
    • Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: Mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2
    • Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, et al. (2006) Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet 14: 999-1008.
    • (2006) Eur J Hum Genet , vol.14 , pp. 999-1008
    • Slavotinek, A.M.1    Moshrefi, A.2    Davis, R.3    Leeth, E.4    Schaeffer, G.B.5
  • 15
    • 33847257493 scopus 로고    scopus 로고
    • Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia
    • Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, et al. (2007) Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet 16: 424-430.
    • (2007) Hum Mol Genet , vol.16 , pp. 424-430
    • Scott, D.A.1    Klaassens, M.2    Holder, A.M.3    Lally, K.P.4    Fernandes, C.J.5
  • 16
    • 77950437128 scopus 로고    scopus 로고
    • A Novel Chromosome 18q22.1 Deletion in a Male with Right-sided Diaphragmatic Hernia and Unilateral Microphthalmia - Examination of DSEL as a Candidate Gene for the Diaphragmatic Defect
    • Zayed H, Chao R, Moshrefi A, Lopez N, Delaney A, et al. (2010) A Novel Chromosome 18q22.1 Deletion in a Male with Right-sided Diaphragmatic Hernia and Unilateral Microphthalmia - Examination of DSEL as a Candidate Gene for the Diaphragmatic Defect. Am J Med Genet 152: 916-923.
    • (2010) Am J Med Genet , vol.152 , pp. 916-923
    • Zayed, H.1    Chao, R.2    Moshrefi, A.3    Lopez, N.4    Delaney, A.5
  • 17
    • 33847215172 scopus 로고    scopus 로고
    • Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
    • Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, et al. (2007) 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 80: 550-556.
    • (2007) Am J Hum Genet , vol.80 , pp. 550-556
    • Pasutto, F.1    Sticht, H.2    Hammersen, G.3    Gillessen-Kaesbach, G.4    Fitzpatrick, D.R.5
  • 18
    • 33748271469 scopus 로고    scopus 로고
    • An initial map of insertion and deletion (INDEL) variation in the human genome
    • Mills RE, Luttig CT, Larkins CE, Beauchamp A, Tsui C, et al. (2006) An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res 16: 1182-1190.
    • (2006) Genome Res , vol.16 , pp. 1182-1190
    • Mills, R.E.1    Luttig, C.T.2    Larkins, C.E.3    Beauchamp, A.4    Tsui, C.5
  • 19
  • 20
  • 21
    • 33846006596 scopus 로고    scopus 로고
    • A comprehensive analysis of common copy-number variations in the human genome
    • Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, et al. (2007) A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80: 91-104.
    • (2007) Am J Hum Genet , vol.80 , pp. 91-104
    • Wong, K.K.1    Deleeuw, R.J.2    Dosanjh, N.S.3    Kimm, L.R.4    Cheng, Z.5
  • 22
    • 39749197456 scopus 로고    scopus 로고
    • Genotype, haplotype and copy-number variation in worldwide human populations
    • Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, et al. (2008) Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451: 998-1003.
    • (2008) Nature , vol.451 , pp. 998-1003
    • Jakobsson, M.1    Scholz, S.W.2    Scheet, P.3    Gibbs, J.R.4    Vanliere, J.M.5
  • 23
    • 14844313659 scopus 로고    scopus 로고
    • Identification and characterization of a novel thioredoxin-related transmembrane protein of the endoplasmic reticulum
    • Haugstetter J, Blicher T, Ellgaard L (2005) Identification and characterization of a novel thioredoxin-related transmembrane protein of the endoplasmic reticulum. J Biol Chem 280: 8371-8016.
    • (2005) J Biol Chem , vol.280 , pp. 8371-8016
    • Haugstetter, J.1    Blicher, T.2    Ellgaard, L.3
  • 24
    • 0031823243 scopus 로고    scopus 로고
    • Expression of zebrafish bHLH genes ngn1 and nrd defines distinct stages of neural differentiation
    • Korzh V, Sleptsova I, Liao J, He J, Gong Z (1998) Expression of zebrafish bHLH genes ngn1 and nrd defines distinct stages of neural differentiation. Dev Dyn 213: 92-104.
    • (1998) Dev Dyn , vol.213 , pp. 92-104
    • Korzh, V.1    Sleptsova, I.2    Liao, J.3    He, J.4    Gong, Z.5
  • 25
    • 36348948649 scopus 로고    scopus 로고
    • Structure-function analysis of the endoplasmic reticulum oxidoreductase TMX3 reveals interdomain stabilization of the N-terminal redox-active domain
    • Haugstetter J, Maurer MA, Blicher T, Pagac M, Wider G, et al. (2007) Structure-function analysis of the endoplasmic reticulum oxidoreductase TMX3 reveals interdomain stabilization of the N-terminal redox-active domain. J Biol Chem 282: 33859-33867.
    • (2007) J Biol Chem , vol.282 , pp. 33859-33867
    • Haugstetter, J.1    Maurer, M.A.2    Blicher, T.3    Pagac, M.4    Wider, G.5
  • 26
    • 0037292964 scopus 로고    scopus 로고
    • The clot gene of Drosophila melanogaster encodes a conserved member of the thioredoxin-like protein superfamily
    • Giordano E, Peluso I, Rendina R, Digilio A, Furia M (2003) The clot gene of Drosophila melanogaster encodes a conserved member of the thioredoxin-like protein superfamily. Mol Genet Genomics 268: 692-697.
    • (2003) Mol Genet Genomics , vol.268 , pp. 692-697
    • Giordano, E.1    Peluso, I.2    Rendina, R.3    Digilio, A.4    Furia, M.5
  • 27
    • 0031906412 scopus 로고    scopus 로고
    • No turning, a mouse mutation causing left-right and axial patterning defects
    • Melloy PG, Ewart JL, Cohen MF, Desmond ME, Kuehn MR, et al. (1998) No turning, a mouse mutation causing left-right and axial patterning defects. Dev Biol 193: 77-89.
    • (1998) Dev Biol , vol.193 , pp. 77-89
    • Melloy, P.G.1    Ewart, J.L.2    Cohen, M.F.3    Desmond, M.E.4    Kuehn, M.R.5
  • 28
    • 34547108813 scopus 로고    scopus 로고
    • Nt mutation causing laterality defects associated with deletion of rotatin
    • Chatterjee B, Richards K, Bucan M, Lo C (2007) Nt mutation causing laterality defects associated with deletion of rotatin. Mamm Genome 18: 310-315.
    • (2007) Mamm Genome , vol.18 , pp. 310-315
    • Chatterjee, B.1    Richards, K.2    Bucan, M.3    Lo, C.4
  • 29
    • 33748695399 scopus 로고    scopus 로고
    • Fast Release Clones: A High Throughput Expression Analysis
    • Thisse B, Thisse C (2004) Fast Release Clones: A High Throughput Expression Analysis. ZFIN Direct Data Submission. (http://zfin.org).
    • (2004) ZFIN Direct Data Submission
    • Thisse, B.1    Thisse, C.2
  • 30
    • 20444368457 scopus 로고    scopus 로고
    • The zebrafish pob gene encodes a novel protein required for survival of red cone photoreceptor cells
    • Taylor MR, Kikkawa S, Diez-Juan A, Ramamurthy V, Kawakami K (2005) The zebrafish pob gene encodes a novel protein required for survival of red cone photoreceptor cells. Genetics 170: 263-273.
    • (2005) Genetics , vol.170 , pp. 263-273
    • Taylor, M.R.1    Kikkawa, S.2    Diez-Juan, A.3    Ramamurthy, V.4    Kawakami, K.5
  • 32
    • 44749085146 scopus 로고    scopus 로고
    • Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression
    • Sehgal R, Karcavich R, Carlson S, Belecky-Adams TL (2008) Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. Dev Biol 319: 23-33.
    • (2008) Dev Biol , vol.319 , pp. 23-33
    • Sehgal, R.1    Karcavich, R.2    Carlson, S.3    Belecky-Adams, T.L.4
  • 33
    • 0028966947 scopus 로고
    • Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
    • Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9: 358-366.
    • (1995) Nat Genet , vol.9 , pp. 358-366
    • Sanyanusin, P.1    Schimmenti, L.A.2    McNoe, L.A.3    Ward, T.A.4    Pierpont, M.E.5
  • 34
    • 0030447981 scopus 로고    scopus 로고
    • The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney
    • Favor J, Sandulache R, Neuhäuser-Klaus A, Pretsch W, Chatterjee B, et al. (1996) The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc Natl Acad Sci U S A 93: 13870-13875.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 13870-13875
    • Favor, J.1    Sandulache, R.2
  • 35
    • 0029953417 scopus 로고    scopus 로고
    • Pax2 contributes to inner ear patterning and optic nerve trajectory
    • Torres M, Gómez-Pardo E, Gruss P (1996) Pax2 contributes to inner ear patterning and optic nerve trajectory. Development 122: 3381-3391.
    • Development , vol.122 , pp. 3381-3391
    • Torres, M.1    Gómez-Pardo, E.2    Gruss, P.3
  • 36
    • 58749114772 scopus 로고    scopus 로고
    • Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation
    • Chapter 8: Unit 8.13
    • Delaney AD, Qian H, Friedman JM, Marra MA (2008) Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation. Curr Protoc Hum Genet Chapter 8: Unit 8.13.
    • (2008) Curr Protoc Hum Genet
    • Delaney, A.D.1    Qian, H.2    Friedman, J.M.3    Marra, M.A.4
  • 37
    • 24344468808 scopus 로고    scopus 로고
    • Gata4 expression in lateral mesoderm is downstream of BMP4 and is activated directly by Forkhead and GATA transcription factors through a distal enhancer element
    • Rojas A, De Val S, Heidt AB, Xu SM, Bristow J, et al. (2005) Gata4 expression in lateral mesoderm is downstream of BMP4 and is activated directly by Forkhead and GATA transcription factors through a distal enhancer element. Development 132: 3405-3417.
    • (2005) Development , vol.132 , pp. 3405-3417
    • Rojas, A.1    de Val, S.2    Heidt, A.B.3    Xu, S.M.4    Bristow, J.5
  • 38
    • 33745587550 scopus 로고    scopus 로고
    • Yeast transcripts cleaved by an internal ribozyme provide new insight into the role of the cap and poly(A) tail in translation and mRNA decay
    • Meaux S, Van Hoof A (2006) Yeast transcripts cleaved by an internal ribozyme provide new insight into the role of the cap and poly(A) tail in translation and mRNA decay. RNA 12: 1323-1337.
    • (2006) RNA , vol.12 , pp. 1323-1337
    • Meaux, S.1    van Hoof, A.2
  • 39
    • 15444369490 scopus 로고    scopus 로고
    • Approaches to study neurogenesis in the zebrafish retina
    • Avanesov A, Malicki J (2004) Approaches to study neurogenesis in the zebrafish retina. Methods Cell Biol 76: 333-384.
    • (2004) Methods Cell Biol , vol.76 , pp. 333-384
    • Avanesov, A.1    Malicki, J.2
  • 40
    • 0033839682 scopus 로고    scopus 로고
    • Light-induced rod and cone cell death and regeneration in the adult albino zebrafish (Danio rerio) retina
    • Vihtelic TS, Hyde DR (2000) Light-induced rod and cone cell death and regeneration in the adult albino zebrafish (Danio rerio) retina. J Neurobiol 44: 289-230.
    • (2000) J Neurobiol , vol.44 , pp. 289-230
    • Vihtelic, T.S.1    Hyde, D.R.2


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