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Page 1
Primary Ciliary Dyskinesia.
Zariwala MA, Knowles MR, Leigh MW. Zariwala MA, et al. 2007 Jan 24 [updated 2019 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Jan 24 [updated 2019 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301301 Free Books & Documents. Review.
Pulmonary Hypertension in a Patient With Kartagener's Syndrome and a Novel Homozygous Nonsense Mutation in CCDC40 Gene: A Case Report.
Dai HL, Wang D, Guang XF, Zhang WH. Dai HL, et al. Front Med (Lausanne). 2022 Mar 30;9:860684. doi: 10.3389/fmed.2022.860684. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35433722 Free PMC article.
Kartagener's syndrome is a subgroup of primary ciliary dyskinesia (PCD), a genetically heterogeneous condition characterised by sinusitis, bronchiectasis, and situs in versus. ...Our findings extend the mutation spectrum of CCDC40 gene related Kartagener …
Kartagener's syndrome is a subgroup of primary ciliary dyskinesia (PCD), a genetically heterogeneous condition characterised b …
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
Staar BO, Hegermann J, Auber B, Ewen R, von Hardenberg S, Olmer R, Pink I, Rademacher J, Wetzke M, Ringshausen FC. Staar BO, et al. Cells. 2023 Nov 18;12(22):2651. doi: 10.3390/cells12222651. Cells. 2023. PMID: 37998386 Free PMC article.
We aimed to assess genotype-phenotype correlations in adults with bronchiectasis, clinical suspicion of PCD, and inconclusive whole-exome sequencing results using transmission electron microscopy (TEM) and ciliary image averaging by the PCD Detect software. We recruited 16 patien …
We aimed to assess genotype-phenotype correlations in adults with bronchiectasis, clinical suspicion of PCD, and inconclusive whole-exome se …
Clinical and Genetic Analysis of Children with Kartagener Syndrome.
Pereira R, Barbosa T, Gales L, Oliveira E, Santos R, Oliveira J, Sousa M. Pereira R, et al. Cells. 2019 Aug 15;8(8):900. doi: 10.3390/cells8080900. Cells. 2019. PMID: 31443223 Free PMC article.
In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiolo …
In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exo …
Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia.
Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ. Kaspy KR, et al. Chest. 2023 Dec 9:S0012-3692(23)05841-5. doi: 10.1016/j.chest.2023.12.005. Online ahead of print. Chest. 2023. PMID: 38072392
Markers of disease severity were compared between situs groups, adjusting for age at enrollment and severe CCDC39 or CCDC40 genotype, using generalized linear models and logistic and Poisson regression. ...Overall, 70 participants (17%) harbored the severe CCDC39 or CCD …
Markers of disease severity were compared between situs groups, adjusting for age at enrollment and severe CCDC39 or CCDC40 genotype, …
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD. Becker-Heck A, et al. Nat Genet. 2011 Jan;43(1):79-84. doi: 10.1038/ng.727. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131974 Free PMC article.
Approximately half of individuals with PCD also have alterations in the left-right organization of their internal organ positioning, including situs inversus and situs ambiguous (Kartagener's syndrome). Here, we identify an uncharacterized coiled-coil domain contain …
Approximately half of individuals with PCD also have alterations in the left-right organization of their internal organ positioning, includi …
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
Sui W, Hou X, Che W, Ou M, Sun G, Huang S, Liu F, Chen P, Wei X, Dai Y. Sui W, et al. Clin Respir J. 2016 Sep;10(5):614-21. doi: 10.1111/crj.12268. Epub 2015 Mar 3. Clin Respir J. 2016. PMID: 25619595 Review.
To identify gene mutations that cause PCD, we performed exome sequencing to analyze genome of this patient, and discovered a previously uncharacterized mutant alleles (NM_001243342.1:c.2609G>A; p. R870H) in CCDC40 gene. In addition, we summarize the PCD disease-causing …
To identify gene mutations that cause PCD, we performed exome sequencing to analyze genome of this patient, and discovered a previously unch …
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S. Blanchon S, et al. J Med Genet. 2012 Jun;49(6):410-6. doi: 10.1136/jmedgenet-2012-100867. J Med Genet. 2012. PMID: 22693285
METHODS: All CCDC39 and CCDC40 exons and intronic boundaries were sequenced in 43 patients from 40 unrelated families. ...Patients carrying CCDC39 or CCDC40 mutations are phenotypically indistinguishable. CCDC39 and CCDC40 analyses in selected patients ensure …
METHODS: All CCDC39 and CCDC40 exons and intronic boundaries were sequenced in 43 patients from 40 unrelated families. ...Patients ca …
Longitudinal Nitric Oxide Levels and Infections by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
Pifferi M, Boner AL, Gracci S, Fonnesu R, Maj D, Donzelli G, Michelucci A, Cangiotti A, Bertini V, Valetto A, Caligo MA, Miccoli M, Peroni D, Bush A. Pifferi M, et al. Chest. 2022 Dec;162(6):1265-1276. doi: 10.1016/j.chest.2022.06.019. Epub 2022 Jun 28. Chest. 2022. PMID: 35777446
We compared cross-sectional and longitudinal values of nNO and Feno in ultrastructural (inner dynein arm [IDA] and microtubular disorganization [MTD]) and genetic (CCDC39 and CCDC40) groups known to have worse pulmonary function with patients within the ultrastructural and …
We compared cross-sectional and longitudinal values of nNO and Feno in ultrastructural (inner dynein arm [IDA] and microtubular disorganizat …
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.
Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ. Peng B, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. Orphanet J Rare Dis. 2022. PMID: 35854386 Free PMC article. Review.
Compared with patients diagnosed with PCD in childhood or infancy, patients diagnosed with PCD in adulthood had a higher prevalence of chronic wet cough, sinusitis, Pseudomonas aeruginosa (PA) isolation and radiological bronchiectasis as well as worse lung function. 25 PCD-relate …
Compared with patients diagnosed with PCD in childhood or infancy, patients diagnosed with PCD in adulthood had a higher prevalence of chron …
26 results