Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry - sprookjes - yvandenbroek - TriplyDB

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

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The dynamic cilium in human diseases Analysis of genetic inheritance in a family quartet by whole-genome sequencing Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation Characterization of ciliated bronchial epithelium 1, a ciliated cell-associated gene induced during mucociliary differentiation A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation HEATR2 plays a conserved role in assembly of the ciliary motile apparatus Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia MNS1 is essential for spermiogenesis and motile ciliary functions in mice ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities DYX1C1 is required for axonemal dynein assembly and ciliary motility ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia Structure and function of mammalian cilia Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact Mucociliary and long-term particle clearance in airways of patients with immotile cilia Genetic factors contributing to human primary ciliary dyskinesia and male infertility Genetics and biology of primary ciliary dyskinesia CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy Genomic Variants Revealed by Invariably Missing Genotypes in Nelore Cattle

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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

http://www.wikidata.org/entity/Q24292162

description

2002 nî lūn-bûn

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2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի փետրվարին հրատարակված գիտական հոդված

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

@yue

name

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

@ast

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

@en

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

@en-gb

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

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type

label

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

@ast

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

@en

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

@en-gb

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

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prefLabel

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

@ast

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

@en

Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

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Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

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Nature Genetics

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Mutations in DNAH5 cause prima ...... zation of left-right asymmetry

@en

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Alexander Völkel

http://www.w3.org/2001/XMLSchema#string

Andreas Kispert

http://www.w3.org/2001/XMLSchema#string

Andreas Volz

http://www.w3.org/2001/XMLSchema#string

Eddie M K Chung

http://www.w3.org/2001/XMLSchema#string

Gürsel Sasmaz

http://www.w3.org/2001/XMLSchema#string

Hannah M Mitchison

http://www.w3.org/2001/XMLSchema#string

Karsten Häffner

http://www.w3.org/2001/XMLSchema#string

Maggie Meeks

http://www.w3.org/2001/XMLSchema#string

Maimoona Zariwala

http://www.w3.org/2001/XMLSchema#string

Michael Knowles

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143-4

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scholarly article

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1943186

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10.1038/NG817

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2

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30

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Friedhelm Hildebrandt

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2002-02-01T00:00:00Z

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1018883896

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11788826

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outer dynein arm assembly

Dynein axonemal heavy chain 5