about
Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.Trainspotting in a cilium.Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.DRC2/CCDC65 is a central hub for assembly of the nexin-dynein regulatory complex and other regulators of ciliary and flagellar motility.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity.CRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog.Flagellar incorporation of proteins follows at least two different routes in trypanosomes.Olfactory loss and dysfunction in ciliopathies: Molecular mechanisms and potential therapies.The Arf GEF GBF1 and Arf4 synergize with the sensory receptor cargo, rhodopsin, to regulate ciliary membrane trafficking.Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function.Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse.Endosome maturation factors Rabenosyn-5/VPS45 and caveolin-1 regulate ciliary membrane and polycystin-2 homeostasis.Cell type-specific regulation of ciliary transition zone assembly in vertebrates.New class of transcription factors controls flagellar assembly by recruiting RNA polymerase II in Chlamydomonas.Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes.Characterization of the human RFX transcription factor family by regulatory and target gene analysis.Sexual Dimorphism and Sex Differences in Caenorhabditis elegans Neuronal Development and Behavior.The fission yeast SPB component Dms1 is required to initiate forespore membrane formation and maintain meiotic SPB components.The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes.Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.Insights into centriole geometry revealed by cryotomography of doublet and triplet centriolesActin-dependent regulation of cilia length by the inverted formin FHDC1Primary cilium and glioblastomaSequence variant analysis of RNA sequences in severe equine asthmaA pathway for Parkinson's Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brainBiallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality DefectsAnalysis of potential genes associated with primary cilia in bladder cancerThe nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal developmentPPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTNNovel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosaCombination of novel and public RNA-seq datasets to generate an mRNA expression atlas for the domestic chickenRPGRIP1L helps to establish the ciliary gate for entry of proteins
P2860
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P2860
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年学术文章
@wuu
2017年学术文章
@zh-cn
2017年学术文章
@zh-hans
2017年学术文章
@zh-my
2017年学术文章
@zh-sg
2017年學術文章
@yue
2017年學術文章
@zh
2017年學術文章
@zh-hant
name
Genes and molecular pathways underpinning ciliopathies.
@en
Genes and molecular pathways underpinning ciliopathies.
@nl
type
label
Genes and molecular pathways underpinning ciliopathies.
@en
Genes and molecular pathways underpinning ciliopathies.
@nl
prefLabel
Genes and molecular pathways underpinning ciliopathies.
@en
Genes and molecular pathways underpinning ciliopathies.
@nl
P2860
P356
P1476
Genes and molecular pathways underpinning ciliopathies.
@en
P2093
Jeremy F Reiter
Michel R Leroux
P2860
P2888
P304
P356
10.1038/NRM.2017.60
P577
2017-07-12T00:00:00Z