Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesiaLoss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesiaCCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationHEATR2 plays a conserved role in assembly of the ciliary motile apparatusMutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsSplice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryDYX1C1 is required for axonemal dynein assembly and ciliary motilityZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaMutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagellaLoss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defectsGenetic factors contributing to human primary ciliary dyskinesia and male infertilityGenetics and biology of primary ciliary dyskinesiaThe awesome power of dikaryons for studying flagella and basal bodies in Chlamydomonas reinhardtiiLife rhythm as a symphony of oscillatory patterns: electromagnetic energy and sound vibration modulates gene expression for biological signaling and healing.CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic ciliaDNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary DyskinesiaUnexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defectsLoss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexThe coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animalsPih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse spermMutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm DefectsChlamydomonas ODA10 is a conserved axonemal protein that plays a unique role in outer dynein arm assemblyPrimary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.Systematic discovery of novel ciliary genes through functional genomics in the zebrafish.DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm ComplexesX-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesiaThe determination factors of left-right asymmetry disorders- a short review.The zebrafish orthologue of the dyslexia candidate gene DYX1C1 is essential for cilia growth and functionRecent advances in primary ciliary dyskinesia genetics.Diagnosis and management of primary ciliary dyskinesia.A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.Chlamydomonas axonemal dynein assembly locus ODA8 encodes a conserved flagellar protein needed for cytoplasmic maturation of outer dynein arm complexesUnique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Dynein and intraflagellar transport.A NIMA-Related Kinase Suppresses the Flagellar Instability Associated with the Loss of Multiple Axonemal Structures.
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P2860
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
description
2012 nî lūn-bûn
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2012 թուականի Մարտին հրատարակուած գիտական յօդուած
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2012 թվականի մարտին հրատարակված գիտական հոդված
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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name
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
@nl
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@ast
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@en
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@en-gb
type
label
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
@nl
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@ast
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@en
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@en-gb
prefLabel
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
@nl
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@ast
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@en
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@en-gb
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
@en
P2093
Athina Dritsoula
Christopher O'Callaghan
Eddie M K Chung
Hannah Blau
Hannah M Mitchison
Huda Mussaffi
Judy Freshour
Maha Al Dabbagh
Niki T Loges
Philip L Beales
P2860
P2888
P304
381-9, S1-2
P3181
P356
10.1038/NG.1106
P407
P577
2012-03-04T00:00:00Z
P5875
P6179
1014360419