The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia - Wikidata - awgldk - TriplyDB

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

http://www.wikidata.org/entity/Q29615741

about

The dynamic cilium in human diseases Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome A method for measuring electrical signals in a primary cilium Cep164, a novel centriole appendage protein required for primary cilium formation Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy Mutation of POC1B in a severe syndromic retinal ciliopathy CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation Functional genomic screen for modulators of ciliogenesis and cilium length ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs Direct 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 Disease OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation Combined 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 RanGTP Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies Cerebellar development and disease Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome Genetics and biology of primary ciliary dyskinesia The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization Cilia in vertebrate development and disease Congenital heart disease: emerging themes linking genetics and development The primary cilium as a dual sensor of mechanochemical signals in chondrocytes Axonemal positioning and orientation in three-dimensional space for primary cilia: what is known, what is assumed, and what needs clarification Scrutinizing ciliopathies by unraveling ciliary interaction networks The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes

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The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

http://www.wikidata.org/entity/Q29615741

description

2006 nî lūn-bûn

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2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

The ciliary proteome database: ...... functional dissection of cilia

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Nature Genetics

P1476

The ciliary proteome database: ...... functional dissection of cilia

@en

P2093

Davis EE

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Gherman A

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Katsanis N

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P2860

Proteomic characterization of the human centrosome by protein correlation profiling

Functional genomics of the cilium, a sensory organelle

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

Proteomic analysis of a eukaryotic cilium

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

A proteomic analysis of human cilia: identification of novel components.

Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes

Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes.

Analysis of xbx genes in C. elegans.

Flagellar motility is required for the viability of the bloodstream trypanosome.

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961-2

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scholarly article

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1656630

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10.1038/NG0906-961

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9

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38

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2006-09-01T00:00:00Z

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6847730

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1021803792

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16940995

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