Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
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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 dyskinesiaMislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesiaMutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationA common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesiaMutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructureMutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaDNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Genetic factors contributing to human primary ciliary dyskinesia and male infertilityPrimary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1CRISPR/Cas9-Mediated Rapid Generation of Multiple Mouse Lines Identified Ccdc63 as Essential for SpermiogenesisConditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitisFounder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesiaRestoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector.Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).Mucus clearance as a primary innate defense mechanism for mammalian airways.Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Genetic causes of bronchiectasis: primary ciliary dyskinesia.Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patientsPrimary ciliary dyskinesia: clinical presentation, diagnosis and genetics.Primary ciliary dyskinesia and upper airway diseases.Primary ciliary dyskinesia: improving the diagnostic approach.Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment.Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testingMutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Disorders of left-right asymmetry: heterotaxy and situs inversus.In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases.Primary ciliary dyskinesia, an orphan disease.Gene mutations in primary ciliary dyskinesia related to otitis media.An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.Normal live birth after vitrified/warmed oocytes intracytoplasmic sperm injection with immotile spermatozoa in a patient with Kartagener's syndrome.Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.Development of EST derived SSRs and SNPs as a genomic resource in Indian catfish, Clarias batrachus.Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia.Primary ciliary dyskinesia: diagnostic and phenotypic features.Ciliary ultrastructure in two sisters with Kartagener's syndrome.
P2860
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P2860
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
description
2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@ast
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@en
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@nl
type
label
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@ast
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@en
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@nl
prefLabel
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@ast
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@en
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@nl
P2093
P2860
P356
P1476
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
@en
P2093
Knowles MR
Zariwala M
P2860
P304
P356
10.1165/AJRCMB.25.5.4619
P577
2001-11-01T00:00:00Z