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

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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http://www.wikidata.org/entity/Q24312391
CCDC151 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 DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagellaGenetic factors contributing to human primary ciliary dyskinesia and male infertilityDiverse Roles of Axonemal Dyneins in Drosophila Auditory Neuron Function and Mechanical Amplification in Hearing.Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm DefectsNovel roles for the radial spoke head protein 9 in neural and neurosensory cilia.Hearing in Drosophila.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.Systematic discovery of novel ciliary genes through functional genomics in the zebrafish.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.Comparative expression profiling of testis-enriched genes regulated during the development of spermatogonial cells.The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesiaNonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.Recent advances in primary ciliary dyskinesia genetics.Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.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.The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathiesGenetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.The ciliary inner dynein arm, I1 dynein, is assembled in the cytoplasm and transported by IFT before axonemal docking.Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.Gene mutations in primary ciliary dyskinesia related to otitis media.A mutation study of sperm head shape and motility in the mouse: lessons for the clinic.Genetic basis of human left-right asymmetry disorders.Primary ciliary dyskinesia: mechanisms and management.Impact of Natural Compounds on DNA Methylation Levels of the Tumor Suppressor Gene RASSF1A in Cancer.Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis.Sperm dysfunction and ciliopathy.Axonemal dynein assembly requires the R2TP complex component Pontin.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.The need to improve patient care through discriminate use of intracytoplasmic sperm injection (ICSI) and improved understanding of spermatozoa, oocyte and embryo biology.Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia.ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.
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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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http://www.wikidata.org/entity/Q24312391
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2013 nî lūn-bûn
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2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի օգոստոսին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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name
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@ast
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@en
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@en-gb
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@nl
type
label
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@ast
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@en
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@en-gb
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@nl
prefLabel
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@ast
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@en
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@en-gb
Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@nl
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Mutations in ZMYND10, a gene e ...... use primary ciliary dyskinesia
@en
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10.1016/J.AJHG.2013.07.009
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