Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationDiagnosis and management of primary ciliary dyskinesiaThe Notch and Wnt pathways regulate stemness and differentiation in human fallopian tube organoids.Novel 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.The "omics" of human male infertility: integrating big data in a systems biology approach.Delivery of a clinical genomics serviceRecent advances in primary ciliary dyskinesia genetics.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.Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.Mutation analysis in patients with total sperm immotilityA frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattleThe ciliary inner dynein arm, I1 dynein, is assembled in the cytoplasm and transported by IFT before axonemal docking.Late steps in cytoplasmic maturation of assembly-competent axonemal outer arm dynein in Chlamydomonas require interaction of ODA5 and ODA10 in a complexGenetic basis of human left-right asymmetry disorders.The importance of transmission electron microscopy analysis of spermatozoa: Diagnostic applications and basic research.European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.Metazoan evolution of the armadillo repeat superfamily.Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.Live birth after Laser Assisted Viability Assessment (LAVA) to detect pentoxifylline resistant ejaculated immotile spermatozoa during ICSI in a couple with male Kartagener's syndrome.Ultrastructural analysis of five patients with total sperm immotility.Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
P2860
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P2860
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
description
2013 nî lūn-bûn
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2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Combined exome and whole-genom ...... efects in the outer dynein arm
@nl
Combined exome and whole-genom ...... fects in the outer dynein arm.
@ast
Combined exome and whole-genom ...... fects in the outer dynein arm.
@en
Combined exome and whole-genom ...... fects in the outer dynein arm.
@en-gb
type
label
Combined exome and whole-genom ...... efects in the outer dynein arm
@nl
Combined exome and whole-genom ...... fects in the outer dynein arm.
@ast
Combined exome and whole-genom ...... fects in the outer dynein arm.
@en
Combined exome and whole-genom ...... fects in the outer dynein arm.
@en-gb
prefLabel
Combined exome and whole-genom ...... efects in the outer dynein arm
@nl
Combined exome and whole-genom ...... fects in the outer dynein arm.
@ast
Combined exome and whole-genom ...... fects in the outer dynein arm.
@en
Combined exome and whole-genom ...... fects in the outer dynein arm.
@en-gb
P2093
P2860
P50
P921
P3181
P1476
Combined exome and whole-genom ...... fects in the outer dynein arm.
@en
P2093
Alexandros Onoufriadis
Anthony T Moore
Chiara Bacchelli
Claire Hogg
Eddie M K Chung
Elisabeth M Rosser
Hannah M Mitchison
Jeannette E Danke-Roelse
John J Sloper
Mitali Patel
P2860
P3181
P356
10.1136/JMEDGENET-2013-101938
P407
P577
2013-11-07T00:00:00Z