Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia - Wikidata - thesis-toulmin - TriplyDB

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

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

http://www.wikidata.org/entity/Q24297464

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Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia 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 Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm DYX1C1 is required for axonemal dynein assembly and ciliary motility CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.Genetic factors contributing to human primary ciliary dyskinesia and male infertility LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex Congenital hydrocephalus in genetically engineered mice Mouse model of heterotaxy with single ventricle spectrum of cardiac anomalies Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse sperm Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients Initiation and maturation of cilia-generated flow in newborn and postnatal mouse airway.Human airway ciliary dynamics Proteomic analysis of intact flagella of procyclic Trypanosoma brucei cells identifies novel flagellar proteins with unique sub-localization and dynamics Cryo-electron tomography of motile cilia and flagella DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography.Mutations in LRRC50 predispose zebrafish and humans to seminomas.Smoking-induced gene expression changes in the bronchial airway are reflected in nasal and buccal epithelium.Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.The anterior gradient homolog 3 (AGR3) gene is associated with differentiation and survival in ovarian cancer Diagnosis and management of primary ciliary dyskinesia.

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P2860

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

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2005 nî lūn-bûn

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2005 թուականի Մարտին հրատարակուած գիտական յօդուած

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2005 թվականի մարտին հրատարակված գիտական հոդված

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2005年の論文

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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RCCM.200411-1583OC

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American Journal of Respiratory and Critical Care Medicine

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Mislocalization of DNAH5 and D ...... ith primary ciliary dyskinesia

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Johannes H Wildhaber

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Judit Horvath

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Maimoona A Zariwala

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Manfred Fliegauf

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Marcus Kennedy

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Michael R Knowles

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P2860

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene

Characterization of an axonemal dynein heavy chain expressed early in airway epithelial ciliogenesis

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

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

Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment

Intraflagellar transport

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

Three-dimensional organization of basal bodies from wild-type and delta-tubulin deletion strains of Chlamydomonas reinhardtii

Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes.

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10.1164/RCCM.200411-1583OC

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15750039

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outer dynein arm assembly

Dynein axonemal intermediate chain 1

Dynein axonemal heavy chain 5

Dynein axonemal heavy chain 9

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2718478

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