Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
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Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesAn effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report.Chlamydomonas DYX1C1/PF23 is essential for axonemal assembly and proper morphology of inner dynein arms.Axonemal dynein assembly requires the R2TP complex component Pontin.Establishment of the early cilia preassembly protein complex during motile ciliogenesis.Primary ciliary dyskinesia: keep it on your radar.ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1.Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient.C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary DyskinesiaSystematic studies of all PIH proteins in zebrafish reveal their distinct roles in axonemal dynein assembly.Ciliary dynein motor preassembly is regulated by Wdr92 in association with HSP90 co-chaperone, R2TP.Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.ZMYND10 functions in a chaperone relay during axonemal dynein assembly.A centriolar FGR1 oncogene partner-like protein required for paraflagellar rod assembly, but not axoneme assembly in African trypanosomes
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P2860
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
description
2017 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2017
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im Januar 2017 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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wetenschappelijk artikel (gepubliceerd op 2017/01/05)
@nl
наукова стаття, опублікована в січні 2017
@uk
مقالة علمية (نشرت في 5-1-2017)
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name
Mutations in PIH1D3 Cause X-Li ...... r and Inner Dynein Arm Defects
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Mutations in PIH1D3 Cause X-Li ...... r and Inner Dynein Arm Defects
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type
label
Mutations in PIH1D3 Cause X-Li ...... r and Inner Dynein Arm Defects
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Mutations in PIH1D3 Cause X-Li ...... r and Inner Dynein Arm Defects
@en
prefLabel
Mutations in PIH1D3 Cause X-Li ...... r and Inner Dynein Arm Defects
@ast
Mutations in PIH1D3 Cause X-Li ...... r and Inner Dynein Arm Defects
@en
P2093
P2860
P50
P921
P1476
Mutations in PIH1D3 Cause X-Li ...... r and Inner Dynein Arm Defects
@en
P2093
Anja Matter
Dimitra Micha
Eric G. Haarman
Erik A. Sistermans
Gerard W. Dougherty
Isabella Aprea
Johannes M. A. Daniels
Jörg Große-Onnebrink
Natalija Bogunovic
P2860
P304
P356
10.1016/J.AJHG.2016.11.019
P407
P577
2017-01-05T00:00:00Z