Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations - Wikidata - wikimedia - TriplyDB

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

http://www.wikidata.org/entity/Q24300830

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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm DYX1C1 is required for axonemal dynein assembly and ciliary motility ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia Human male infertility caused by mutations in the CATSPER1 channel protein Diagnosis and management of primary ciliary dyskinesia The challenges of diagnosing primary ciliary dyskinesia Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Human airway ciliary dynamics DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes The determination factors of left-right asymmetry disorders- a short review.Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway Genetic male infertility and mutation of CATSPER ion channels.Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.Diagnosis and management of primary ciliary dyskinesia.Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis.Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists.Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.Mutation analysis in patients with total sperm immotility Clinical value of measurement of pulmonary radioaerosol mucociliary clearance in the work up of primary ciliary dyskinesia.Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease.

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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

http://www.wikidata.org/entity/Q24300830

description

2008 nî lūn-bûn

@nan

2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2008年の論文

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2008年論文

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2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

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2008年论文

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name

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@ast

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@en

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@en-gb

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@nl

type

label

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@ast

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@en

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@en-gb

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@nl

prefLabel

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@ast

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@en

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@en-gb

Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

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Primary ciliary dyskinesia ass ...... is caused by DNAH11 mutations

@en

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Bodo Niggemann

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

Colette Rossier

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

Daniel Birker

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

Georg C Schwabe

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

Gerhard Gaedicke

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

Jean-Louis Blouin

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

Katrin Hoffmann

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

Lucia Bartoloni

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

Manfred Fliegauf

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

Margherita M de Santi

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

P2860

Characterization of an axonemal dynein heavy chain expressed early in airway epithelial ciliogenesis

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

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289-98

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scholarly article

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10.1002/HUMU.20656

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2

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29

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Stylianos Antonarakis

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2008-02-01T00:00:00Z

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5824042

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18022865

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determination of left/right symmetry

Dynein axonemal heavy chain 11