|
Primary Ciliary Dyskinesia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Of 15 subjects with a PCD gene panel, 67% (9 of 15) carried at least 1 gene associated with PCD.
|
31430425 |
2019 |
|
Primary Ciliary Dyskinesia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Bronchial epithelial reticular basement membrane (RBM) thickening occurs in diseases with both eosinophilic (allergic bronchial asthma [BA]) and neutrophilic (cystic fibrosis [CF] and primary ciliary dyskinesia [PCD]) chronic airway inflammation; however, the lung function and airway remodeling relation remains unclear.
|
31711989 |
2019 |
|
Primary Ciliary Dyskinesia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Diagnosis of PCD is confirmed by identification of a hallmark defect of ciliary ultrastructure or by identification of biallelic pathogenic mutations in a known PCD gene.
|
28922052 |
2018 |
|
Primary Ciliary Dyskinesia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Respondents who met criteria for elevated risk of PCD (at least 3 symptoms or other features highly suggestive of PCD) were offered PCD genetic testing.
|
30238669 |
2018 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recent surprising advances in PCD genetic designed a novel approach called "gene editing" to restore gene function and normalize ciliary motility, opening up new avenues for treating PCD.
|
28649564 |
2017 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Notably a heterotaxy patient harboring heterozygous DNAH6 mutation was identified to also carry a rare heterozygous PCD-causing DNAI1 mutation, suggesting a DNAH6/DNAI1 trans-heterozygous interaction.
|
26918822 |
2016 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although, on a global scale, PCD is associated with extensive genetic heterogeneity, finding such a high number of causative PCD genes within the relatively small Irish Traveller population was unexpected.
|
26123568 |
2015 |
|
Primary Ciliary Dyskinesia
|
0.600 |
Biomarker
|
disease |
MGD |
Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis.
|
24306492 |
2014 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The sequencing of all exons identified compound heterozygosity for PCD mutations in nine patients from eight families (DNAH5 in eight and DNAI1 in one patient), and heterozygozity for a DNAH5 mutation of uncertain functional significance in one additional patient.
|
22416021 |
2012 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
One heterotaxy patient with CD had the PCD causing DNAI1 founder mutation.
|
22499950 |
2012 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The worldwide involvement of DNAI1 mutations in PCD pathogenesis in families not preselected for ODA defects ranges from 7 to 10%; this global estimate as well as the mutation profile differs in specific populations.
|
21143860 |
2010 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in Dynein Axonemal Intermediate chain type 1 (DNAI1) gene have been described in 10% of cases of Primary Ciliary Dyskinesia.
|
19300481 |
2009 |
|
Primary Ciliary Dyskinesia
|
0.600 |
Biomarker
|
disease |
BEFREE |
DNAH5 and DNAI1 are involved in 28 and 10% of PCD cases, respectively, while two other genes, DNAH11 and TXNDC3, have been identified as causal in one PCD family each.
|
18270537 |
2008 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We conclude that DNAI1 gene mutation is not a common cause of PCD, and that major or several additional disease gene(s) still remain to be identified before a sensitive molecular diagnostic test can be developed for PCD.
|
18434704 |
2008 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population.
|
17272866 |
2007 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We analyzed DNAI1 to identify disease-causing mutations in PCD and to determine if the previously reported IVS1+2_3insT (219+3insT) mutation represents a "founder" or "hot spot" mutation.
|
16858015 |
2006 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To date, only two autosomal genes, DNAI1 and DNAH5 encoding axonemal dynein chains, have been shown to cause PCD with defective outer dynein arms.
|
16055928 |
2006 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
DNAH5 was completely or only distally absent from the respiratory ciliary axoneme in patients with PCD with DNAH5- (n = 3) or DNAI1- (n = 1) mutations, respectively, and instead accumulated at the microtubule-organizing centers.
|
15750039 |
2005 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Finally, this study demonstrates a link between ciliary function and situs determination, since compound mutation heterozygosity in DNAI1 results in PCD with situs solitus or situs inversus (KS).
|
11231901 |
2001 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in DNAI1 are causative for PCD with ODA defects, and are likely the genetic origin of clinical disease in some PCD patients with ultrastructural defects in the ODA.
|
11713099 |
2001 |
|
Primary Ciliary Dyskinesia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Two loss-of-function mutations of DNAI1 have been identified in a patient with PCD characterized by immotile respiratory cilia lacking outer dynein arms.
|
10577904 |
1999 |
|
Primary Ciliary Dyskinesia
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|