Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography. - sprookjes - yvandenbroek - TriplyDB

Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.

Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.

http://www.wikidata.org/entity/Q35116940

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Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.The Central Apparatus of Cilia and Eukaryotic Flagella.Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella.Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.Applications of emerging transmission electron microscopy technology in PCD research and diagnosis.Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia.

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Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.

http://www.wikidata.org/entity/Q35116940

description

2014 nî lūn-bûn

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2014 թուականի Մարտին հրատարակուած գիտական յօդուած

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2014 թվականի մարտին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Characterizing the ultrastruct ...... ect using electron tomography.

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Characterizing the ultrastruct ...... ect using electron tomography.

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type

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Characterizing the ultrastruct ...... ect using electron tomography.

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Characterizing the ultrastruct ...... ect using electron tomography.

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prefLabel

Characterizing the ultrastruct ...... ect using electron tomography.

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Characterizing the ultrastruct ...... ect using electron tomography.

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Characterizing the ultrastruct ...... fect using electron tomography

@en

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Amy Lewis

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

Ann Dewar

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Claire Hogg

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Mellisa Dixon

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P2860

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

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

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

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

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

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

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294-301

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scholarly article

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10.1002/CM.21171

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5

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71

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Thomas Burgoyne

Amelia Shoemark

Pradeep K Luther

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2014-03-25T00:00:00Z

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24616277

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