Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia
about
Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseIntegrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinomaBicc1 is a genetic determinant of osteoblastogenesis and bone mineral density.Bicaudal C mutation causes myc and TOR pathway up-regulation and polycystic kidney disease-like phenotypes in Drosophila.The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets.Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.Specificity factors in cytoplasmic polyadenylationBICC1 expression is elevated in depressed subjects and contributes to depressive behavior in rodents.Loss of polycystin-1 inhibits Bicc1 expression during mouse development.Bicc1 Polymerization Regulates the Localization and Silencing of Bound mRNA.The Bic-C family of developmental translational regulators.Genetic link between renal birth defects and congenital heart diseaseA gradient of maternal Bicaudal-C controls vertebrate embryogenesis via translational repression of mRNAs encoding cell fate regulatorsAnalysis of the effects of depression associated polymorphisms on the activity of the BICC1 promoter in amygdala neuronesDeterminants of RNA binding and translational repression by the Bicaudal-C regulatory protein.Genetic, environmental, and epigenetic factors involved in CAKUT.Controlling the Messenger: Regulated Translation of Maternal mRNAs in Xenopus laevis Development.Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population.Modeling Renal Disease "On the Fly".
P2860
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P2860
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@ast
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@en
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@en-gb
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@nl
type
label
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@ast
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@en
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@en-gb
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@nl
prefLabel
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@ast
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@en
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@en-gb
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@nl
P2093
P2860
P3181
P356
P1433
P1476
Two mutations in human BICC1 r ...... ed with cystic renal dysplasia
@en
P2093
Anne Grapin-Botton
Daniel Constam
Marine R-C Kraus
Massimo Di Maïo
Séverine Clauin
Tim Ulinski
Yvan Pfister
P2860
P3181
P356
10.1002/HUMU.21610
P407
P577
2012-01-01T00:00:00Z