Motile and non-motile cilia in human pathology: from function to phenotypes.
about
The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesToolbox in a tadpole: Xenopus for kidney research.Genetics meets pathology - an increasingly important relationship.The electric fence to cell-cycle progression: Do local changes in membrane potential facilitate disassembly of the primary cilium?: Timely and localized expression of a potassium channel may set the conditions that allow retraction of the primary ciOral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.The connections of Wnt pathway components with cell cycle and centrosome: side effects or a hidden logic?Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.The N-terminus of IFT46 mediates intraflagellar transport of outer arm dynein and its cargo-adaptor ODA16.Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.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.Primary cilia proteins: ciliary and extraciliary sites and functions.Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.The formation of the light-sensing compartment of cone photoreceptors coincides with a transcriptional switch.Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.Phenotypes, pleiotropy, and phylogeny.WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.Drosophila PLP assembles pericentriolar clouds that promote centriole stability, cohesion and MT nucleation.Managing Bardet–Biedl Syndrome—Now and in the Future.C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary DyskinesiaDisease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes.Primary cilium and glioblastomaBiallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality DefectsTailoring Formulations for Intranasal Nose-to-Brain Delivery: A Review on Architecture, Physico-Chemical Characteristics and Mucociliary Clearance of the Nasal Olfactory Mucosa
P2860
Q33654636-F8D79BD9-D190-4F87-AC76-881043C15CA3Q33780616-5EBD8E88-A2D7-4C7B-B637-5D332516D3F0Q38731540-22F83C48-A233-4F38-A765-AA3CCF2AD909Q39012198-66045DB6-D78B-40CD-BB72-ACDEB3638A26Q39215812-2C07C10A-14A8-4AFB-81B0-ED4ED9C4500EQ39405146-B6AB73BE-899C-47BE-8727-DFE6026475BBQ39457168-714D445C-1C03-43B0-A923-0EA747EA9360Q41170062-8434EACC-63FF-474C-9B91-CF8768D6BEDBQ41596398-C0416CEE-3255-4E44-9299-14E4E830CF92Q43491669-63405943-54DA-4DDB-AD9D-C1FAAB72C31AQ46233034-E57307C1-6FDD-4867-AA83-60F17869B3D7Q46255742-09AC35F8-894E-4C2C-9D1C-D06B82DD431CQ46904962-DB8DA1DF-2837-4750-86B6-56D128FDC11FQ47228439-DD0BE6E0-E477-462C-A593-69A660A272E9Q47625348-B0FD3193-9A5E-40BA-865B-3C4F470FB661Q47652965-B06F771F-4800-4820-A7F7-DEBE737B9F5CQ47757055-272E85A9-89ED-47B9-9CF0-4350297AB1D8Q48188504-C8B63024-10B6-48A8-B7D2-B762C6EC19D3Q48374383-8905E837-156A-4250-80CF-DEEC051CFDA4Q50000144-3B82EA5C-8570-4EFF-9074-07F2133A8FB1Q50099523-F0F7667C-DAD2-4C0B-B439-EC6D0F827CAEQ50301044-F95799E1-A5CB-4DEE-9BF5-D0420484E5CBQ54850008-FEA443FA-E83B-43A9-AD27-88DD94B9CF1FQ55003855-7AF15AD3-2FCF-4B93-99A8-EDE9AC1C0FD4Q55380590-3981F051-6AD0-4058-B41D-D91667605ABFQ57298233-92529B90-146C-4D17-A781-F95AD83A92ECQ58618792-A3FDC697-9283-41E9-8189-F36AE1800DD2Q58800789-C8B5E2C1-B438-4B65-B220-E047483D58B9
P2860
Motile and non-motile cilia in human pathology: from function to phenotypes.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Motile and non-motile cilia in human pathology: from function to phenotypes.
@en
Motile and non-motile cilia in human pathology: from function to phenotypes.
@nl
type
label
Motile and non-motile cilia in human pathology: from function to phenotypes.
@en
Motile and non-motile cilia in human pathology: from function to phenotypes.
@nl
prefLabel
Motile and non-motile cilia in human pathology: from function to phenotypes.
@en
Motile and non-motile cilia in human pathology: from function to phenotypes.
@nl
P2860
P356
P1476
Motile and non-motile cilia in human pathology: from function to phenotypes.
@en
P2093
Hannah M Mitchison
P2860
P304
P356
10.1002/PATH.4843
P577
2016-11-09T00:00:00Z