The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia
about
The dynamic cilium in human diseasesMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeA method for measuring electrical signals in a primary ciliumCep164, a novel centriole appendage protein required for primary cilium formationCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyWhole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesiaIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyMutation of POC1B in a severe syndromic retinal ciliopathyCEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumDirect role of Bardet-Biedl syndrome proteins in transcriptional regulationFunctional genomic screen for modulators of ciliogenesis and cilium lengthARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesPDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeFunctional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsCCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsDirect recording and molecular identification of the calcium channel of primary cilia.Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinC2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and humanThe Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationCombined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-beta2 and RanGTPMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesCerebellar development and diseaseIdentification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeGenetics and biology of primary ciliary dyskinesiaThe base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalizationCilia in vertebrate development and diseaseCongenital heart disease: emerging themes linking genetics and developmentThe primary cilium as a dual sensor of mechanochemical signals in chondrocytesAxonemal positioning and orientation in three-dimensional space for primary cilia: what is known, what is assumed, and what needs clarificationScrutinizing ciliopathies by unraveling ciliary interaction networksThe role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologiesCCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic ciliaDNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary DyskinesiaAn essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes
P2860
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P2860
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
The ciliary proteome database: ...... functional dissection of cilia
@ast
The ciliary proteome database: ...... functional dissection of cilia
@en
type
label
The ciliary proteome database: ...... functional dissection of cilia
@ast
The ciliary proteome database: ...... functional dissection of cilia
@en
prefLabel
The ciliary proteome database: ...... functional dissection of cilia
@ast
The ciliary proteome database: ...... functional dissection of cilia
@en
P2093
P2860
P3181
P356
P1433
P1476
The ciliary proteome database: ...... functional dissection of cilia
@en
P2093
P2860
P2888
P3181
P356
10.1038/NG0906-961
P407
P577
2006-09-01T00:00:00Z
P5875
P6179
1021803792