Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Pediatric Pulmonology

• Publication date

  2012-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ppul.22520PMID 22416021
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

  2011cited by this paper
• Cooling of cilia allows functional analysis of the beat pattern for diagnostic testing.

  2011cited by this paper
• CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

  2011cited by this paper
• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  2011cited by this paper
• Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

  2010cited by this paper
• Diagnostic testing of patients suspected of primary ciliary dyskinesia.

  2010cited by this paper
• Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it.

  2009cited by this paper
• Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

  2009cited by this paper
• Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

  2009cited by this paper
• Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

  2009cited by this paper
• Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

  2009cited by this paper
• High prevalence of primary ciliary dyskinesia in a British Asian population

  2009cited by this paper
• Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

  2009cited by this paper
• Nasal nitric oxide for early diagnosis of familial primary ciliary dyskinesia

  2008cited by this paper
• Nasal nitric oxide assessment in primary ciliary dyskinesia using aspiration, exhalation, and humming.

  2008cited by this paper
• Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

  2008cited by this paper
• Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

  2008cited by this paper
• DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

  2008cited by this paper
• DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia

  2008cited by this paper
• Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children.

  2008cited by this paper
• Genetic Causes of Bronchiectasis: Primary Ciliary Dyskinesia

  2007cited by this paper
• A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

  2007cited by this paper
• Genetic defects in ciliary structure and function.

  2007cited by this paper
• Diagnosing primary ciliary dyskinesia

  2007cited by this paper
• Nasal nitric oxide in atypical primary ciliary dyskinesia.

  2007cited by this paper
• Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

  2006influential reference
• Movement: the emerging genetics of primary ciliary dyskinesia.

  2006cited by this paper
• Axonemal Localization of the Dynein Component DNAH5 Is Not Altered in Secondary Ciliary Dyskinesia

  2006cited by this paper
• DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

  2006influential reference
• Nasal nitric oxide to diagnose primary ciliary dyskinesia in newborns

  2005cited by this paper
• RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

  2005cited by this paper
• Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

  2005cited by this paper
• Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults

  2003cited by this paper
• Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia☆

  2003cited by this paper
• Primary ciliary dyskinesia: age at diagnosis and symptom history

  2002cited by this paper
• Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia.

  2002cited by this paper
• Hyperplasia of pulmonary artery smooth muscle cells is causally related to overexpression of the serotonin transporter in primary pulmonary hypertension.

  2002cited by this paper
• Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

  2002cited by this paper
• Prediction of deleterious human alleles.

  2001cited by this paper
• Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

  2001cited by this paper
• Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

  1999cited by this paper

• Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review

  2025cites this paper
• Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis

  2024cites this paper
• Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study

  2024cites this paper
• Shorter Cilia Length and Aberrant Ciliated Marker DNAI1 in Allergic Rhinitis

  2023cites this paper
• Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

  2022cites this paper
• Impairment mechanism of nasal mucosa after radiotherapy for nasopharyngeal carcinoma

  2022cites this paper
• The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.

  2022cites this paper
• A ubiquitin-related gene signature for predicting prognosis and constructing molecular subtypes in osteosarcoma

  2022cites this paper
• Ependymal ciliary motion and their role in congenital hydrocephalus

  2021cites this paper
• Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review

  2021cites this paper
• Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus

  2021cites this paper
• Long-term defects of nasal epithelium barrier functions in patients with nasopharyngeal carcinoma post chemo-radiotherapy.

  2020cites this paper
• A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia

  2020influential citation
• A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia

  2020cites this paper
• Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia

  2020cites this paper
• Clinical and Genetic Analysis of Children with Kartagener Syndrome

  2019cites this paper
• Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

  2018cites this paper
• Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

  2018cites this paper
• European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

  2017cites this paper
• A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.

  2017cites this paper
• Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

  2017cites this paper
• Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis

  2017cites this paper
• Repository of the Radboud

  2017cites this paper
• An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia

  2016cites this paper
• Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia

  2016cites this paper
• Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

  2016cites this paper
• A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome

  2015cites this paper
• Mutation analysis in patients with total sperm immotility

  2015influential citation
• Host susceptibility to non-tuberculous mycobacterial infections.

  2015cites this paper
• Mutation analysis of genes involved in sperm motility: A study on patients with total sperm immotility

  2014influential citation
• Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population

  2014cites this paper
• Primary ciliary dyskinesia

  2014cites this paper
• The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

  2014cites this paper
• A molecular approach to sperm immotility in humans: A review

  2014cites this paper
• Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia

  2013influential citation
• Primary Ciliary Dyskinesia

  2013cites this paper
• Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

  2013cites this paper
• Dissertação para obtenção do Grau de Mestre em

  2012cites this paper