Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
about
RNA-binding proteins in eye development and disease: implication of conserved RNA granule componentsEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseNext generation organelles: structure and role of germ granules in the germlineCompound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataractMutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.Identification and characterization of FGF2-dependent mRNA: microRNA networks during lens fiber cell differentiationpiRNA and spermatogenesis in miceProx1 and fibroblast growth factor receptors form a novel regulatory loop controlling lens fiber differentiation and gene expressionDevelopment of novel filtering criteria to analyze RNA-sequencing data obtained from the murine ocular lens during embryogenesisMolecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).The LOTUS domain is a conserved DEAD-box RNA helicase regulator essential for the recruitment of Vasa to the germ plasm and nuageTdrd12 Is Essential for Germ Cell Development and Maintenance in Zebrafish.Translational activation of developmental messenger RNAs during neonatal mouse testis developmentComparative quantification of plasma TDRD7 mRNA in cataract patients by real-time polymerase chain reactionRNA granule component TDRD7 gene polymorphisms in a Han Chinese population with age-related cataract.The Tudor domain protein Tapas, a homolog of the vertebrate Tdrd7, functions in the piRNA pathway to regulate retrotransposons in germline of Drosophila melanogasterPax6- and Six3-mediated induction of lens cell fate in mouse and human ES cells.Selenite cataracts: activation of endoplasmic reticulum stress and loss of Nrf2/Keap1-dependent stress protectionThe cellular and molecular mechanisms of vertebrate lens development.Altered ubiquitin causes perturbed calcium homeostasis, hyperactivation of calpain, dysregulated differentiation, and cataract.Tudor domain containing 7 (Tdrd7) is essential for dynamic ribonucleoprotein (RNP) remodeling of chromatoid bodies during spermatogenesis.Minireview: The roles of small RNA pathways in reproductive medicineA recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13qMolecular characterization of mouse lens epithelial cell lines and their suitability to study RNA granules and cataract associated genesRoles of the 15-kDa selenoprotein (Sep15) in redox homeostasis and cataract development revealed by the analysis of Sep 15 knockout miceThe orchestration of mammalian tissue morphogenesis through a series of coherent feed-forward loops.An integrative approach to analyze microarray datasets for prioritization of genes relevant to lens biology and diseaseRecurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.iSyTE: integrated Systems Tool for Eye gene discovery.A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.(1)H, (15)N and (13)C resonance assignments for the three LOTUS RNA binding domains of Tudor domain-containing protein TDRD7.Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital CataractsDeletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsUsing genetic mouse models to gain insight into glaucoma: Past results and future possibilities.Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)A robust transcriptional program in newts undergoing multiple events of lens regeneration throughout their lifespan.SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.Translation initiation factor eIF3h targets specific transcripts to polysomes during embryogenesis.RNA Granules and Cataract
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P2860
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@ast
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@en
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@en-gb
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@nl
type
label
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@ast
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@en
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@en-gb
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@nl
prefLabel
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@ast
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@en
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@en-gb
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@nl
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Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
@en
P2093
Abdulmutalib Behbehani
Amal Al-Hajeri
Anne C-H Tsai
Anton Aboukhalil
Emily Hodges
Gareth R Howell
Hanan E Shamseldin
K Saidas Nair
Martha L Bulyk
Mihai I Cosma
P2860
P304
P3181
P356
10.1126/SCIENCE.1195970
P407
P577
2011-03-01T00:00:00Z