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Concurrent loss of ciliary genes WDR93 and CFAP46 in phylogenetically distant birds.
Salve BG, Kurian AM, Vijay N. Salve BG, et al. R Soc Open Sci. 2023 Aug 23;10(8):230801. doi: 10.1098/rsos.230801. eCollection 2023 Aug. R Soc Open Sci. 2023. PMID: 37621660 Free PMC article.
Notably, species with WDR93 loss have concurrently lost another C1d component, CFAP46, through large segmental deletions. Understanding the consequences of such gene loss may provide insight into their role in host-pathogen interactions and benefit global pathogen surveill …
Notably, species with WDR93 loss have concurrently lost another C1d component, CFAP46, through large segmental deletions. Understandi …
Detection of Novel Fusion Transcript VTI1A-CFAP46 in Hepatocellular Carcinoma.
Tsuge S, Saberi B, Cheng Y, Wang Z, Kim A, Luu H, Abraham JM, Ybanez MD, Hamilton JP, Selaru FM, Villacorta-Martin C, Schlesinger F, Philosophe B, Cameron AM, Zhu Q, Anders R, Gurakar A, Meltzer SJ. Tsuge S, et al. Gastrointest Tumors. 2019 Aug;6(1-2):11-27. doi: 10.1159/000496795. Epub 2019 Apr 10. Gastrointest Tumors. 2019. PMID: 31602373 Free PMC article.
RESULTS: As a result of these studies, we discovered the novel fusion transcript, VTI1A-CFAP46. In the second phase of our study, we measured the expression of wild-type VTI1A in 21 HCC specimens, which showed that 10 of 21 exhibited upregulation of wild-type VTI1A in thei …
RESULTS: As a result of these studies, we discovered the novel fusion transcript, VTI1A-CFAP46. In the second phase of our study, we …
Pathogenic variants in CFAP46, CFAP54, CFAP74, and CFAP221 cause Primary Ciliary Dyskinesia with a defective C1d projection of the central apparatus.
Wohlgemuth K, Hoersting N, Koenig J, Loges NT, Raidt J, George S, Cindrić S, Schramm A, Biebach L, Lay S, Dougherty GW, Olbrich H, Pennekamp P, Dworniczak B, Omran H. Wohlgemuth K, et al. Eur Respir J. 2024 Oct 3:2400790. doi: 10.1183/13993003.00790-2024. Online ahead of print. Eur Respir J. 2024. PMID: 39362668
METHODS: Using a high-throughput sequencing approach of genes encoding C1d components, we identified pathogenic variants in the novel PCD genes CFAP46 and CFAP54, and the known PCD gene CFAP221. To fully assess this PCD type, we also analysed individuals with pathogenic va …
METHODS: Using a high-throughput sequencing approach of genes encoding C1d components, we identified pathogenic variants in the novel PCD ge …
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Bolkier Y, et al. J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2. J Med Genet. 2022. PMID: 34215651
These included variants in DNAH6, HYDIN, CELSR1 and CFAP46. CONCLUSIONS: Our findings contribute to the current knowledge regarding monogenic causes of heterotaxy and its associated congenital heart defects and underscore the role of next-generation sequencing techniques i …
These included variants in DNAH6, HYDIN, CELSR1 and CFAP46. CONCLUSIONS: Our findings contribute to the current knowledge regarding m …
Newborn DNA methylation and asthma acquisition across adolescence and early adulthood.
Li L, Holloway JW, Ewart S, Arshad SH, Relton CL, Karmaus W, Zhang H. Li L, et al. Clin Exp Allergy. 2022 May;52(5):658-669. doi: 10.1111/cea.14091. Epub 2022 Jan 16. Clin Exp Allergy. 2022. PMID: 34995380 Free PMC article.
CONCLUSION AND CLINICAL RELEVANCE: Eight CpGs on LHX5, IL22RA2, SOX11, CBX4, ACPT, CFAP46, MUC4, and ATP1B2 genes have the potential to serve as candidate epigenetic biomarkers in newborns for asthma acquisition in females during adolescence or young adulthood....
CONCLUSION AND CLINICAL RELEVANCE: Eight CpGs on LHX5, IL22RA2, SOX11, CBX4, ACPT, CFAP46, MUC4, and ATP1B2 genes have the potential …
The DNA methylome in panic disorder: a case-control and longitudinal psychotherapy-epigenetic study.
Ziegler C, Grundner-Culemann F, Schiele MA, Schlosser P, Kollert L, Mahr M, Gajewska A, Lesch KP, Deckert J, Köttgen A, Domschke K. Ziegler C, et al. Transl Psychiatry. 2019 Nov 21;9(1):314. doi: 10.1038/s41398-019-0648-6. Transl Psychiatry. 2019. PMID: 31754096 Free PMC article.
While no epigenome-wide significant hits could be discerned, top suggestive evidence was observed for decreased methylation in PD at cg19917903 in the Cilia and Flagella Associated Protein 46 (CFAP46) gene, and for an increase in methylation after CBT at cg06943668 in the …
While no epigenome-wide significant hits could be discerned, top suggestive evidence was observed for decreased methylation in PD at cg19917 …
Effect of body mass index on semen quality, sperm chromatin integrity and sperm DNA methylation.
Vozdova M, Kubickova S, Kopecka V, Sipek J, Rubes J. Vozdova M, et al. Obes Res Clin Pract. 2024 Oct 1:S1871-403X(24)00391-0. doi: 10.1016/j.orcp.2024.09.276. Online ahead of print. Obes Res Clin Pract. 2024. PMID: 39358131
Also, we detected a significant decline in the EPHA8, ANKRD11 and CFAP46 gene methylation in association with increasing BMI values. The genes EPHA8 and ANKRD11 are involved in the nervous system and brain development; the CFAP46 gene plays a role in a flagellar ass …
Also, we detected a significant decline in the EPHA8, ANKRD11 and CFAP46 gene methylation in association with increasing BMI values. …
Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Cassuto NG, Piquemal D, Boitrelle F, Larue L, Lédée N, Hatem G, Ruoso L, Bouret D, Siffroi JP, Rouen A, Assou S. Cassuto NG, et al. Biomed Res Int. 2021 Sep 18;2021:1434546. doi: 10.1155/2021/1434546. eCollection 2021. Biomed Res Int. 2021. PMID: 34604380 Free PMC article.
RT-qPCR of high- and poor-quality sperm samples allowed showing that the expression of some genes, such as AURKA, HDAC4, CFAP46, SPATA18, CACNA1C, CACNA1H, CARHSP1, CCDC60, DNAH2, and CDC88B, have different expression levels according to sperm morphology. ...
RT-qPCR of high- and poor-quality sperm samples allowed showing that the expression of some genes, such as AURKA, HDAC4, CFAP46, SPAT …
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.
Renard E, Chéry C, Oussalah A, Josse T, Perrin P, Tramoy D, Voirin J, Klein O, Leheup B, Feillet F, Guéant-Rodriguez RM, Guéant JL. Renard E, et al. Hum Genet. 2019 Jul;138(7):703-713. doi: 10.1007/s00439-019-02015-7. Epub 2019 May 28. Hum Genet. 2019. PMID: 31139930
We found a significant hemimethylation of CFAP46 that may influence SHH activation in one case, who carried risk alleles in BHMT, LRP2, MMAA and GLI3. ...
We found a significant hemimethylation of CFAP46 that may influence SHH activation in one case, who carried risk alleles in BHMT, LRP …
11 results