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2020 3
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2023 2
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Page 1
LOF variants identifying candidate genes of laterality defects patients with congenital heart disease.
Liu S, Wei W, Wang P, Liu C, Jiang X, Li T, Li F, Wu Y, Chen S, Sun K, Xu R. Liu S, et al. PLoS Genet. 2022 Dec 2;18(12):e1010530. doi: 10.1371/journal.pgen.1010530. eCollection 2022 Dec. PLoS Genet. 2022. PMID: 36459505 Free PMC article.
We then evaluated rare, loss-of-function (LOF) variants, identifying candidates by referring to previous literature. We chose TRIP11, DNHD1, CFAP74, and EGR4 as candidates from 776 LOF variants that met the initial screening criteria. ...Impairments of Kupffer's vesicle or …
We then evaluated rare, loss-of-function (LOF) variants, identifying candidates by referring to previous literature. We chose TRIP11, DNHD1, …
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.
Sha Y, Wei X, Ding L, Ji Z, Mei L, Huang X, Su Z, Wang W, Zhang X, Lin S. Sha Y, et al. J Hum Genet. 2020 Nov;65(11):961-969. doi: 10.1038/s10038-020-0790-2. Epub 2020 Jun 18. J Hum Genet. 2020. PMID: 32555313
(Gly328Asp), and exon 29, c.3532G>A; p.(Asp1178Asn), of the CFAP74 (NM_001304360) gene were identified in patient 1 (P1), and biallelic mutations in exon 7, c.652C>T; p....To the best of our knowledge, this study is the first to identify the importance of CFAP74 …
(Gly328Asp), and exon 29, c.3532G>A; p.(Asp1178Asn), of the CFAP74 (NM_001304360) gene were identified in patient 1 (P1), and bial …
HNRNPCL1, PRAMEF1, CFAP74, and DFFB: Common Potential Biomarkers for Sporadic and Suspected Lynch Syndrome Endometrial Cancer.
Gao Y, Zhang X, Wang T, Zhang Y, Wang Q, Hu Y. Gao Y, et al. Cancer Manag Res. 2020 Nov 4;12:11231-11241. doi: 10.2147/CMAR.S262421. eCollection 2020. Cancer Manag Res. 2020. PMID: 33177874 Free PMC article.
Among the top 30 common high-frequency mutation sites, 12, 5, 4, and 3 mutation sites were located on HNRNPCL1, PRAMEF1, HNRNPCL2, and CFAP74, respectively. Protein-protein interaction analysis showed that DFFB was associated with the most genes. There were some difference …
Among the top 30 common high-frequency mutation sites, 12, 5, 4, and 3 mutation sites were located on HNRNPCL1, PRAMEF1, HNRNPCL2, and CF …
Genome-Wide Scan of Wool Production Traits in Akkaraman Sheep.
Arzik Y, Kizilaslan M, Behrem S, White SN, Piel LMW, Cinar MU. Arzik Y, et al. Genes (Basel). 2023 Mar 14;14(3):713. doi: 10.3390/genes14030713. Genes (Basel). 2023. PMID: 36980985 Free PMC article.
Accordingly, TRIM2, MND1, TLR2, RNF175, CEP290, TMTC3, RERE, SLC45A1, SOX2, MORN1, SKI, FAAP20, PRKCZ, GABRD, CFAP74, CALML6 and TMEM52 genes as well as nine uncharacterized regions (LOC101118971, LOC105609137, LOC105603067, LOC101122892, LOC106991694, LOC106991467, LOC106 …
Accordingly, TRIM2, MND1, TLR2, RNF175, CEP290, TMTC3, RERE, SLC45A1, SOX2, MORN1, SKI, FAAP20, PRKCZ, GABRD, CFAP74, CALML6 and TMEM …
Comparative methylation and RNA-seq expression analysis in CpG context to identify genes involved in Backfat vs. Liver diversification in Nanchukmacdon Pig.
Arora D, Park JE, Lim D, Choi BH, Cho IC, Srikanth K, Kim J, Park W. Arora D, et al. BMC Genomics. 2021 Nov 7;22(1):801. doi: 10.1186/s12864-021-08123-x. BMC Genomics. 2021. PMID: 34743693 Free PMC article.
The genes C7orf50, ACTB and MLC1 in backfat and TNNT3, SIX2, SDK1, CLSTN3, LTBP4, CFAP74, SLC22A23, FOXC1, GMDS, GSC, GATA4, SEMA5A and HOXA5 in the liver, were categorized as differentially-methylated. ...
The genes C7orf50, ACTB and MLC1 in backfat and TNNT3, SIX2, SDK1, CLSTN3, LTBP4, CFAP74, SLC22A23, FOXC1, GMDS, GSC, GATA4, SEMA5A a …
Comparison of whole exome sequencing in circulating tumor cells of primitive and metastatic nasopharyngeal carcinoma.
Si J, Huang B, Lan G, Zhang B, Wei J, Deng Z, Li Y, Qin Y, Li B, Lu Y, Si Y. Si J, et al. Transl Cancer Res. 2020 Jul;9(7):4080-4092. doi: 10.21037/tcr-19-2899. Transl Cancer Res. 2020. PMID: 35117778 Free PMC article.
The most frequently mutated genes among the primitive tumor and CTC samples were CFAP74, MOB3C, PDE4DIP, IGFN1, CYFIP2, NOP16, SLC22A1, ZNF117, and SSPO. ...
The most frequently mutated genes among the primitive tumor and CTC samples were CFAP74, MOB3C, PDE4DIP, IGFN1, CYFIP2, NOP16, SLC22A …
Genomic selection pressure discovery using site-frequency spectrum and reduced local variability statistics in Pakistani Dera-Din-Panah goat.
Saif R, Mahmood T, Zia S, Henkel J, Ejaz A. Saif R, et al. Trop Anim Health Prod. 2023 Sep 26;55(5):331. doi: 10.1007/s11250-023-03758-2. Trop Anim Health Prod. 2023. PMID: 37750990
The highest genomic selection signals were observed on Chr. 4, 6, 10, 12, 15, 16, 18, 20, and 27 and harbor ADAMTS6, CWC27, RELN, MYCBP2, FGF14, STIM1, CFAP74, GNB1, CALML6, TMEM52, FAM149A, NADK, MMP23B, OPN3, FH, MFHAS1, KLKB1, RRM1, KMO, SPEF2, F11, KIT, KMO, ERI1, ATP8 …
The highest genomic selection signals were observed on Chr. 4, 6, 10, 12, 15, 16, 18, 20, and 27 and harbor ADAMTS6, CWC27, RELN, MYCBP2, FG …