Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationGenetic factors contributing to human primary ciliary dyskinesia and male infertilityMammalian axoneme central pair complex proteins: Broader roles revealed by gene knockout phenotypesDiagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art reviewNovel roles for the radial spoke head protein 9 in neural and neurosensory cilia.X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesCryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.Recent advances in primary ciliary dyskinesia genetics.Diagnosis and management of primary ciliary dyskinesia.Space-dependent formation of central pair microtubules and their interactions with radial spokesIn vivo micro-scale tomography of ciliary behavior in the mammalian oviduct.Major regulatory mechanisms involved in sperm motility.Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.Proteogenomic Analysis Greatly Expands the Identification of Proteins Related to Reproduction in the Apogamous Fern Dryopteris affinis ssp. affinis.Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Ciliopathies: Genetics in Pediatric Medicine.European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella.Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.Alcohol-induced ciliary dysfunction targets the outer dynein arm.Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.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.The mouse radial spoke protein 3 is a nucleocytoplasmic shuttling protein that promotes neurogenesis.Should transmission electron microscopy and ultrastructural cilia evaluation remain part of the diagnostic work-up for primary ciliary dyskinesia?Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis
P2860
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P2860
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
description
2014 nî lūn-bûn
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2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Targeted NGS gene panel identi ...... s due to radial spoke defects.
@ast
Targeted NGS gene panel identi ...... s due to radial spoke defects.
@en
type
label
Targeted NGS gene panel identi ...... s due to radial spoke defects.
@ast
Targeted NGS gene panel identi ...... s due to radial spoke defects.
@en
prefLabel
Targeted NGS gene panel identi ...... s due to radial spoke defects.
@ast
Targeted NGS gene panel identi ...... s due to radial spoke defects.
@en
P2093
P2860
P50
P356
P1476
Targeted NGS gene panel identi ...... is due to radial spoke defects
@en
P2093
Alexandros Onoufriadis
Andrew Rutman
Biju Thomas
Christopher O'Callaghan
Claire Hogg
Eddie M K Chung
Florence Bolard
Gina Jimenez
Hannah M Mitchison
P2860
P304
P356
10.1093/HMG/DDU046
P577
2014-02-11T00:00:00Z