The genetic and molecular basis of congenital eye defects.
about
Biomedical discovery acceleration, with applications to craniofacial developmentCompound developmental eye disorders following inactivation of TGFbeta signaling in neural-crest stem cells.Heterozygous mutations of OTX2 cause severe ocular malformationsThe phosphatidylserine receptor has essential functions during embryogenesis but not in apoptotic cell removalHomozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humansCreation of non-human primate neurogenetic disease models by gene targeting and nuclear transferRNA-binding proteins in eye development and disease: implication of conserved RNA granule componentsThe Genetics and the Genomics of Primary Congenital GlaucomaRegulation of alphaA-crystallin via Pax6, c-Maf, CREB and a broad domain of lens-specific chromatinAbsence of chx10 causes neural progenitors to persist in the adult retinaThe level of BMP4 signaling is critical for the regulation of distinct T-box gene expression domains and growth along the dorso-ventral axis of the optic cupRybp, a polycomb complex-associated protein, is required for mouse eye development.Transcriptional regulation of mouse alpha A-crystallin gene in a 148kb Cryaa BAC and its derivatesRemoval of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.Differences in the tumor microenvironment between African-American and European-American breast cancer patientsAlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.Mice lacking Alkbh1 display sex-ratio distortion and unilateral eye defects.Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens developmentSignaling pathways in melanosome biogenesis and pathologyLens fiber cell differentiation and denucleation are disrupted through expression of the N-terminal nuclear receptor box of NCOA6 and result in p53-dependent and p53-independent apoptosis.Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardationMolecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.Different experimental approaches in modelling cataractogenesis: An overview of selenite-induced nuclear cataract in rats.Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.Identification of proteins that modify cataract of mouse eye lensIdentification of in vivo DNA-binding mechanisms of Pax6 and reconstruction of Pax6-dependent gene regulatory networks during forebrain and lens development.Lens induction requires attenuation of ERK signaling by Nf1Clinical and experimental advances in congenital and paediatric cataracts.Keeping an eye on SOXC proteins.Ocular coloboma: a reassessment in the age of molecular neuroscience.New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts.A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid.Distinct embryonic expression and localization of CBP and p300 histone acetyltransferases at the mouse alphaA-crystallin locus in lens.Tissue-specific regulation of the mouse alphaA-crystallin gene in lens via recruitment of Pax6 and c-Maf to its promoter.Mast Cells Participate in Corneal Development in Mice.A novel GJA8 mutation causing a recessive triangular cataract.LHX2 is necessary for the maintenance of optic identity and for the progression of optic morphogenesis.Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.
P2860
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P2860
The genetic and molecular basis of congenital eye defects.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
The genetic and molecular basis of congenital eye defects.
@ast
The genetic and molecular basis of congenital eye defects.
@en
type
label
The genetic and molecular basis of congenital eye defects.
@ast
The genetic and molecular basis of congenital eye defects.
@en
prefLabel
The genetic and molecular basis of congenital eye defects.
@ast
The genetic and molecular basis of congenital eye defects.
@en
P356
P1476
The genetic and molecular basis of congenital eye defects.
@en
P2093
Jochen Graw
P2888
P304
P356
10.1038/NRG1202
P577
2003-11-01T00:00:00Z