ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
暂无分享,去创建一个
H. Baier | A. Slavotinek | D. Schorderet | E. Jorgenson | T. Bardakjian | A. Schneider | M. Yahyavi | H. Abouzeid | Ghada I. Gawdat | Anne-Sophie de Preux | Tong Xiao | A. Choi | M. El Sada | Mani Yahyavi
[1] D. Davies. ANOPHTHALMIA AND MICROPHTHALMIA , 1917, The British journal of ophthalmology.
[2] J. Dowling,et al. Retinoic acid is necessary for development of the ventral retina in zebrafish. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[3] P. Chambon,et al. Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants. , 1994, Development.
[4] K. Sulik,et al. Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos. , 1995, Teratology.
[5] P. Chambon,et al. Role of the retinoic acid receptor beta (RARbeta) during mouse development. , 1997, The International journal of developmental biology.
[6] Choun-Ki Joo,et al. Wnt/β-Catenin/Tcf Signaling Induces the Transcription of Axin2, a Negative Regulator of the Signaling Pathway , 2002, Molecular and Cellular Biology.
[7] P. Chambon,et al. A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[8] C. Hayward,et al. Mutations in SOX2 cause anophthalmia , 2003, Nature Genetics.
[9] C. Gilbert,et al. Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy. , 2003, Medical science monitor : international medical journal of experimental and clinical research.
[10] Herwig Baier,et al. A GFP-based genetic screen reveals mutations that disrupt the architecture of the zebrafish retinotectal projection , 2005, Development.
[11] O. Biehlmaier,et al. Photoreceptor morphology is severely affected in the β,β‐carotene‐15,15′‐oxygenase (bcox) zebrafish morphant , 2005 .
[12] O. Biehlmaier,et al. Photoreceptor morphology is severely affected in the beta,beta-carotene-15,15'-oxygenase (bcox) zebrafish morphant. , 2005, The European journal of neuroscience.
[13] P. Chambon,et al. Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells , 2005, Development.
[14] J. N. Kay,et al. Forward Genetic Analysis of Visual Behavior in Zebrafish , 2005, PLoS genetics.
[15] G. Duester,et al. Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning , 2006, Development.
[16] R. Hennekam,et al. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. , 2007, American Journal of Human Genetics.
[17] P. Ping,et al. A Membrane Receptor for Retinol Binding Protein Mediates Cellular Uptake of Vitamin A , 2007, Science.
[18] P. Dollé,et al. Retinoids control anterior and dorsal properties in the developing forebrain. , 2007, Developmental biology.
[19] A. Munnich,et al. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. , 2007, American journal of human genetics.
[20] Herwig Baier,et al. Lamina-specific axonal projections in the zebrafish tectum require the type IV collagen Dragnet , 2007, Nature Neuroscience.
[21] Qingshun Zhao,et al. Expressions of Raldh3 and Raldh4 during zebrafish early development. , 2008, Gene expression patterns : GEP.
[22] D. Pleasure,et al. Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes , 2008, Developmental dynamics : an official publication of the American Association of Anatomists.
[23] W. Driever,et al. RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome. , 2008, Cell metabolism.
[24] G. Duester. Keeping an eye on retinoic acid signaling during eye development. , 2009, Chemico-biological interactions.
[25] T. Bardakjian,et al. Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia , 2009, American journal of medical genetics. Part A.
[26] Angela Wai-Man See,et al. The temporal requirement for vitamin A in the developing eye: mechanism of action in optic fissure closure and new roles for the vitamin in regulating cell proliferation and adhesion in the embryonic retina. , 2009, Developmental biology.
[27] A. Slavotinek,et al. Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration , 2009, American journal of medical genetics. Part A.
[28] P. Calvas,et al. Phenotypic spectrum of STRA6 mutations: from Matthew‐Wood syndrome to non‐lethal anophthalmia , 2009, Human mutation.
[29] Andrew M. Petzold,et al. A primer for morpholino use in zebrafish. , 2009, Zebrafish.
[30] E. Picard,et al. Pulmonary hypoplasia–diaphragmatic hernia–anophthalmia–cardiac defect (PDAC) syndrome due to STRA6 mutations—What are the minimal criteria? , 2009, American journal of medical genetics. Part A.
[31] Robert B. Hartlage,et al. This PDF file includes: Materials and Methods , 2009 .
[32] J. García-Ortiz,et al. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia–anophthalmia–coloboma (MAC) spectrum cases , 2010, British Journal of Ophthalmology.
[33] P. Shannon,et al. Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing , 2010, Science.
[34] Allen D. Delaney,et al. A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development , 2010, PloS one.
[35] 王林,et al. Orphanet , 2011 .
[36] R. Regan,et al. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype , 2011, Human mutation.
[37] T. de Ravel,et al. High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. , 2011, American journal of ophthalmology.
[38] G. Raca,et al. Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma , 2011, Genetics in Medicine.
[39] G. Duester,et al. SnapShot: Retinoic Acid Signaling , 2011, Cell.
[40] Anne M Slavotinek,et al. Eye development genes and known syndromes. , 2011, Molecular genetics and metabolism.
[41] M. Dubé,et al. Mutations in a novel serine protease PRSS56 in families with nanophthalmos , 2011, Molecular vision.
[42] J. Miller,et al. Predicting the Functional Effect of Amino Acid Substitutions and Indels , 2012, PloS one.
[43] J. Dowling,et al. Early retinoic acid deprivation in developing zebrafish results in microphthalmia , 2012, Visual Neuroscience.
[44] P. Dollé,et al. Retinoic acid signalling during development , 2012, Development.
[45] Yongwook Choi,et al. A fast computation of pairwise sequence alignment scores between a protein and a set of single-locus variants of another protein , 2012, BCB.
[46] A. Munnich,et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. , 2013, American journal of human genetics.