Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies

[1]  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.

[2]  M. Walter,et al.  Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. , 2010, Human molecular genetics.

[3]  Tomislav Smoljanovic,et al.  Bone morphogenetic protein. , 2009, Journal of neurosurgery. Spine.

[4]  Y. Sauve,et al.  Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. , 2009, Human molecular genetics.

[5]  H. Baier,et al.  An essential role for Radar (Gdf6a) in inducing dorsal fate in the zebrafish retina , 2009, Proceedings of the National Academy of Sciences.

[6]  A. Diwan,et al.  Unveiling the Bmp13 Enigma: Redundant Morphogen or Crucial Regulator? , 2008, International journal of biological sciences.

[7]  M. Tassabehji,et al.  Mutations in GDF6 are associated with vertebral segmentation defects in Klippel‐Feil syndrome , 2008, Human mutation.

[8]  Gerard C Blobe,et al.  Role of transforming growth factor-beta superfamily signaling pathways in human disease. , 2008, Biochimica et biophysica acta.

[9]  C. Ponting,et al.  Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. , 2008, American journal of human genetics.

[10]  Amit S Verma,et al.  Anophthalmia and microphthalmia , 2007, Orphanet journal of rare diseases.

[11]  J. van Marle,et al.  Development and adult morphology of the eye lens in the zebrafish. , 2007, Experimental eye research.

[12]  K. M. Berry,et al.  GDF6, a novel locus for a spectrum of ocular developmental anomalies. , 2007, American journal of human genetics.

[13]  C. Hensey,et al.  Eye and neural defects associated with loss of GDF6 , 2006, BMC Developmental Biology.

[14]  J. Malicki,et al.  oko meduzy and Related crumbs Genes Are Determinants of Apical Cell Features in the Vertebrate Embryo , 2006, Current Biology.

[15]  S. Leevers,et al.  Controlling the size of organs and organisms. , 2005, Current opinion in cell biology.

[16]  Ralf Dahm,et al.  Mutations that affect the survival of selected amacrine cell subpopulations define a new class of genetic defects in the vertebrate retina. , 2005, Developmental biology.

[17]  R. Finnell,et al.  Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989–1997 , 2005, American journal of medical genetics. Part A.

[18]  Herwig Baier,et al.  A GFP-based genetic screen reveals mutations that disrupt the architecture of the zebrafish retinotectal projection , 2005, Development.

[19]  B. Lorenz,et al.  Heterozygous mutations of OTX2 cause severe ocular malformations. , 2005, American journal of human genetics.

[20]  A. Reddi BMPs: from bone morphogenetic proteins to body morphogenetic proteins. , 2005, Cytokine & growth factor reviews.

[21]  X. Xia,et al.  Differential selection and mutation between dsDNA and ssDNA phages shape the evolution of their genomic AT percentage , 2005, BMC Genetics.

[22]  R. Lowry,et al.  Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System. , 2005, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

[23]  S. Halford,et al.  Ocular coloboma: a reassessment in the age of molecular neuroscience , 2004, Journal of Medical Genetics.

[24]  M. Tsujikawa,et al.  Intraflagellar Transport Genes Are Essential for Differentiation and Survival of Vertebrate Sensory Neurons , 2004, Neuron.

[25]  P. Mathers,et al.  Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. , 2003, Human molecular genetics.

[26]  C. ffrench-Constant,et al.  The control of cell number during central nervous system development in flies and mice , 2003, Mechanisms of Development.

[27]  P. Ekström,et al.  Differentiation of ganglion cells and amacrine cells in the rat retina: correlation with expression of HuC/D and GAP-43 proteins. , 2003, Brain research. Developmental brain research.

[28]  C. Hayward,et al.  Mutations in SOX2 cause anophthalmia , 2003, Nature Genetics.

[29]  D. Kingsley,et al.  Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. , 2003, Developmental biology.

[30]  Z. Pujic,et al.  Analysis of gene function in the zebrafish retina. , 2002, Methods.

[31]  Kathryn E. Crosier,et al.  Radar is required for the establishment of vascular integrity in the zebrafish. , 2002, Developmental biology.

[32]  H. Campbell,et al.  National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology , 2002, Journal of medical genetics.

[33]  S. Ekker,et al.  Morphant technology in model developmental systems , 2001, Genesis.

[34]  Z. Pujic,et al.  Mutation of the zebrafish glass onion locus causes early cell-nonautonomous loss of neuroepithelial integrity followed by severe neuronal patterning defects in the retina. , 2001, Developmental biology.

[35]  J. M. Fadool,et al.  Müller cell differentiation in the zebrafish neural retina: Evidence of distinct early and late stages in cell maturation , 2001, The Journal of comparative neurology.

[36]  R. Mcinnes,et al.  Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 , 2000, Nature Genetics.

[37]  J. Postlethwait,et al.  The BMP-related protein Radar: a maintenance factor for dorsal neuroectoderm cells? , 1999, Mechanisms of Development.

[38]  S. Easter,et al.  Retinal neurogenesis: the formation of the initial central patch of postmitotic cells. , 1999, Developmental biology.

[39]  Anders Gorm Pedersen,et al.  Neural Network Prediction of Translation Initiation Sites in Eukaryotes: Perspectives for EST and Genome Analysis , 1997, ISMB.

[40]  A. Amsterdam,et al.  Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development. , 1996, Genes & development.

[41]  C. Nüsslein-Volhard,et al.  Mutations affecting development of the zebrafish inner ear and lateral line. , 1996, Development.

[42]  A. Schier,et al.  Mutations affecting development of the zebrafish retina. , 1996, Development.

[43]  A. Schier,et al.  A genetic screen for mutations affecting embryogenesis in zebrafish. , 1996, Development.

[44]  D A Kane,et al.  The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio. , 1996, Development.

[45]  B. Hogan Bone morphogenetic proteins in development. , 1996, Current opinion in genetics & development.

[46]  J. Dowling,et al.  Comparison of topographical patterns of ganglion and photoreceptor cell differentiation in the retina of the zebrafish, Danio rerio , 1996, The Journal of comparative neurology.

[47]  C. Kimmel,et al.  Stages of embryonic development of the zebrafish , 1995, Developmental dynamics : an official publication of the American Association of Anatomists.

[48]  Richard L. Maas,et al.  PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects , 1994, Nature Genetics.

[49]  R. Bremiller,et al.  Early onset of phenotype and cell patterning in the embryonic zebrafish retina. , 1990, Development.

[50]  V. Rosen,et al.  Novel regulators of bone formation: molecular clones and activities. , 1988, Science.

[51]  Annegret Lesslauer The zebrafish retina , 2007 .

[52]  A. Avanesov,et al.  Approaches to study neurogenesis in the zebrafish retina. , 2004, Methods in cell biology.

[53]  Kathryn E. Crosier,et al.  Pathways in blood and vessel development revealed through zebrafish genetics. , 2002, The International journal of developmental biology.

[54]  J. Malicki Development of the retina. , 1999, Methods in cell biology.

[55]  Stephen W. Wilson,et al.  Distribution of Pax6 protein during eye development suggests discrete roles in proliferative and differentiated visual cells , 1997, Development Genes and Evolution.

[56]  J. Dowling,et al.  Mutations affecting eye morphology in the developing zebrafish (Danio rerio). , 1997, Developmental genetics.

[57]  R. Lang Apoptosis in mammalian eye development: lens morphogenesis, vascular regression and immune privilege , 1997, Cell Death and Differentiation.

[58]  Richard L. Maas,et al.  Erratum: PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects (Nature Genetics 7 (463-471)) , 1994 .