Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
about
Human basal body basicsNephronophthisis and related syndromesMutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationMutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisNPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone.Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathiesTMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.The essential roles of transition fibers in the context of cilia.Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gateTargeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme.Ciliopathies: Genetics in Pediatric Medicine.Ciliopathies.Genes and molecular pathways underpinning ciliopathies.Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.Genomics in the renal clinic - translating nephrogenetics for clinical practiceStructural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice.Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.A distal centriolar protein network controls organelle maturation and asymmetryThe nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development
P2860
Q26765127-A1606B17-B97C-499F-AC5B-D126040F32FCQ28081939-00352F3A-7631-403B-ADD4-604C39CFA892Q28119115-9059875D-6D2D-4253-9902-79DFB6593ACCQ28975782-9D6259B1-7B54-46F8-B85A-EDC350E8A786Q34433457-5D42E065-7DC2-4BF9-A375-D3767246A291Q34498881-F18CB9D9-7827-4B48-B273-262205496D40Q35229307-CBC5E34F-5EF9-4A1B-893D-40A6C07F3163Q35394882-9B25364F-0C2E-4A48-A8EA-E90E99090BD4Q35930524-AFAC4930-2999-451D-A398-3F78D43E5FAFQ35954123-7D530995-0612-43E3-9C5B-F38E1C3B6270Q36624649-1A26FA2B-2CD3-4B36-8E89-771EFEB0F94CQ37191828-38699741-4DD7-4A26-9331-DC58E37E4FD0Q37223757-2FE9276F-35B4-44B4-9C7D-5856C0BCDADCQ37618918-5799E7D0-33CB-4575-AE1B-02CC7463A08CQ38703905-126C786D-1326-4347-B381-F55542BD2FFDQ38759596-E436F7AB-CE7E-47EC-BF82-219C57CAB24CQ38994215-9143499A-2781-4F04-9D42-22D172769357Q39429623-8616BDEF-EFA5-48A6-9FAD-3188A87485ECQ40746137-5AD1A5B0-3794-4455-B4D9-D5224CE6DAD2Q40805918-E94B6482-518B-43DB-A2B3-A5A52A9674A7Q42485675-5A19F2A5-B866-4565-AA7A-B06FD8B9AD0FQ47625348-93737914-70BF-40A9-8DEF-50D5CFF117D0Q47833085-3CD838A0-3953-42D3-AF4A-72614CC4A1E7Q57149575-CE130C9C-3705-4B67-8DB5-20C307C83B81Q58775693-5D694B99-C395-4E9D-9645-C6E61D7934AE
P2860
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@ast
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@en
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@nl
type
label
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@ast
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@en
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@nl
prefLabel
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@ast
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@en
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@nl
P2093
P2860
P50
P1476
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
@en
P2093
Amandine Frigo
Bruno Hurault de Ligny
Christine Pietrement
Cécile Masson
Emilie Filhol
Friedhelm Hildebrandt
Hulya Kayserili
Jan Halbritter
Jonathan D Porath
P2860
P304
P356
10.1016/J.AJHG.2014.05.002
P407
P50
P577
2014-05-29T00:00:00Z