Centrosomes and cilia in human disease. - Wikidata - wikimedia - TriplyDB

Centrosomes and cilia in human disease.

Centrosomes and cilia in human disease.

http://www.wikidata.org/entity/Q37890619

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RTTN mutations link primary cilia function to organization of the human cerebral cortex Poc1A and Poc1B act together in human cells to ensure centriole integrity ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly CCDC41 is required for ciliary vesicle docking to the mother centriole Tankyrase 1 regulates centrosome function by controlling CPAP stability The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1 Unique properties of Drosophila spermatocyte primary cilia Drosophila melanogaster as a model for basal body research Building a ninefold symmetrical barrel: structural dissections of centriole assembly OLA1 in centrosome biology alongside the BRCA1/BARD1 complex: looking beyond centrosomes Scrutinizing ciliopathies by unraveling ciliary interaction networks CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies Centrosomal nucleolin is required for microtubule network organization.The Structure of the Plk4 Cryptic Polo Box Reveals Two Tandem Polo Boxes Required for Centriole Duplication SAS-6 coiled-coil structure and interaction with SAS-5 suggest a regulatory mechanism inC. eleganscentriole assembly Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly CP110 and its network of partners coordinately regulate cilia assembly.The PLK4-STIL-SAS-6 module at the core of centriole duplication Centrosome - a promising anti-cancer target Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis Nek2 activation of Kif24 ensures cilium disassembly during the cell cycle Transcriptional program of ciliated epithelial cells reveals new cilium and centrosome components and links to human disease Motile cilia harbor serum response factor as a mechanism of environment sensing and injury response in the airway Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryo The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals CPAP is required for cilia formation in neuronal cells.Merlin/ERM proteins establish cortical asymmetry and centrosome position.Subdiffraction-resolution fluorescence microscopy reveals a domain of the centrosome critical for pericentriolar material organization.A non-canonical mode of microtubule organization operates throughout pre-implantation development in mouse CP110 exhibits novel regulatory activities during centriole assembly in Drosophila.C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.Asterless is required for centriole length control and sperm development Stronger net posterior cortical forces and asymmetric microtubule arrays produce simultaneous centration and rotation of the pronuclear complex in the early Caenorhabditis elegans embryo Cell-free reconstitution reveals centriole cartwheel assembly mechanisms.USP9X regulates centrosome duplication and promotes breast carcinogenesis.Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.MCPH1: a window into brain development and evolution.The Ca2+-activated Cl- channel ANO1/TMEM16A regulates primary ciliogenesis

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Centrosomes and cilia in human disease.

http://www.wikidata.org/entity/Q37890619

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

@tr

scientific article published on 15 June 2011

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Centrosomes and cilia in human disease.

@en

Centrosomes and cilia in human disease.

@nl

type

label

Centrosomes and cilia in human disease.

@en

Centrosomes and cilia in human disease.

@nl

prefLabel

Centrosomes and cilia in human disease.

@en

Centrosomes and cilia in human disease.

@nl

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J.TIG.2011.05.004

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Trends in Genetics

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Centrosomes and cilia in human disease

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David Pellman

http://www.w3.org/2001/XMLSchema#string

Friedhelm Hildebrandt

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Geoff Woods

http://www.w3.org/2001/XMLSchema#string

P2860

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Asterless is a scaffold for the onset of centriole assembly

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

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307-315

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scholarly article

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10.1016/J.TIG.2011.05.004

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8

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27

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Monica Bettencourt-Dias

Susana A Godinho

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2011-06-15T00:00:00Z

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51225637

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21680046

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3144269

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