CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs - sprookjes - yvandenbroek - TriplyDB

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

http://www.wikidata.org/entity/Q24312161

about

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation HEATR2 plays a conserved role in assembly of the ciliary motile apparatus Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia MNS1 is essential for spermiogenesis and motile ciliary functions in mice DYX1C1 is required for axonemal dynein assembly and ciliary motility ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects Genetic factors contributing to human primary ciliary dyskinesia and male infertility Genetics and biology of primary ciliary dyskinesia Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease 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 Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.RAB-like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly Primary ciliary dyskinesia.LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals Coiled-coil domain containing 42 (Ccdc42) is necessary for proper sperm development and male fertility in the mouse Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.In vivo modeling of the morbid human genome using Danio rerio The N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes.Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility.DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography.Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia The determination factors of left-right asymmetry disorders- a short review.Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

http://www.wikidata.org/entity/Q24312161

description

2011 nî lūn-bûn

@nan

2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2011 թվականի հունվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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CCDC39 is required for assembl ...... ry motility in humans and dogs

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Andreas Kispert

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André Coste

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Anita Becker-Heck

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Anne-Sophie Lequarré

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Annick Clément

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Cécile Clercx

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Frédéric Billen

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P2860

The Chlamydomonas genome reveals the evolution of key animal and plant functions.

T lymphocyte-triggering factor of african trypanosomes is associated with the flagellar fraction of the cytoskeleton and represents a new family of proteins that are present in several divergent eukaryotes

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.

Direct and indirect roles for Nodal signaling in two axis conversions during asymmetric morphogenesis of the zebrafish heart

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

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1375082

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10.1038/NG.726

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1

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43

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Nicholas Katsanis

Hanswalter Zentgraf

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Miriam Schmidts

Anne-Christine Merveille

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2011-01-01T00:00:00Z

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49658679

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1032062630

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21131972

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axonemal dynein complex assembly

Coiled-coil domain containing 39

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3509786

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