Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
about
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomographyBBS mutations modify phenotypic expression of CEP290-related ciliopathiesLoss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaImpaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndromeThe cilia-regulated proteasome and its role in the development of ciliopathies and cancerSmelling the roses and seeing the light: gene therapy for ciliopathiesEctopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null miceMutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegansMouse models of ciliopathies: the state of the art.The nonmotile ciliopathies.Centriolar satellites: key mediators of centrosome functionsLeptin resistance is a secondary consequence of the obesity in ciliopathy mutant miceThree-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegenerationGene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerizationA knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesityCiliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse modelGenetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)Hyperactive neuroendocrine secretion causes size, feeding, and metabolic defects of C. elegans Bardet-Biedl syndrome mutants.Hippocampal and cortical primary cilia are required for aversive memory in mice.Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohortMolecular basis of the obesity associated with Bardet-Biedl syndrome.Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane.Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins.The relationship between sonic Hedgehog signaling, cilia, and neural tube defectsBBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.Functional modules, mutational load and human genetic diseaseMechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome.Olfactory cilia: linking sensory cilia function and human diseaseFrom retinal circuitry to eye diseases--in memory of Henk SpekreijseBBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.From phenologs to silent suppressors: Identifying potential therapeutic targets for human disease.Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.Cilia and Obesity.New Roles of the Primary Cilium in Autophagy.Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents.BBS4 directly affects proliferation and differentiation of adipocytes.
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P2860
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
description
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2006
@ast
im September 2006 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2006/09/01)
@sk
vědecký článek publikovaný v roce 2006
@cs
wetenschappelijk artikel (gepubliceerd op 2006/09/01)
@nl
наукова стаття, опублікована у вересні 2006
@uk
مقالة علمية (نشرت في سبتمبر 2006)
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name
Phenotypic characterization of ...... ance and variable expressivity
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Phenotypic characterization of ...... ance and variable expressivity
@en
Phenotypic characterization of ...... ance and variable expressivity
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type
label
Phenotypic characterization of ...... ance and variable expressivity
@ast
Phenotypic characterization of ...... ance and variable expressivity
@en
Phenotypic characterization of ...... ance and variable expressivity
@nl
prefLabel
Phenotypic characterization of ...... ance and variable expressivity
@ast
Phenotypic characterization of ...... ance and variable expressivity
@en
Phenotypic characterization of ...... ance and variable expressivity
@nl
P2093
P2860
P3181
P1433
P1476
Phenotypic characterization of ...... ance and variable expressivity
@en
P2093
David W. Stockton
Elizabeth Lindsay
Erica R. Eichers
Monica J. Justice
Muhammad M. Abd-El-Barr
Philip L. Beales
Richard Alan Lewis
Richard Paylor
Samuel M. Wu
Thomas P. Meehan
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P2888
P304
P3181
P356
10.1007/S00439-006-0197-Y
P577
2006-09-01T00:00:00Z
P5875
P6179
1048728627