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14 results

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Epsilon tubulin is an essential determinant of microtubule-based structures in male germ cells.
Stathatos GG, Merriner DJ, O'Connor AE, Zenker J, Dunleavy JE, O'Bryan MK. Stathatos GG, et al. EMBO Rep. 2024 Jun;25(6):2722-2742. doi: 10.1038/s44319-024-00159-w. Epub 2024 May 21. EMBO Rep. 2024. PMID: 38773322 Free PMC article.
Herein we have used a spermatogenesis model to define epsilon tubulin (TUBE1) function in mice. We show that TUBE1 is essential for the function of multiple complex microtubule arrays, including the meiotic spindle, axoneme and manchette and in its absence, there is …
Herein we have used a spermatogenesis model to define epsilon tubulin (TUBE1) function in mice. We show that TUBE1 is essentia …
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Hobbs CA, Bamshad M, McGoldrick D, Nickerson DA, Finnell RH, Mullikin J, Romitti PA, Mills JL; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Am J Med Genet A. 2021 Oct;185(10):3028-3041. doi: 10.1002/ajmg.a.62439. Epub 2021 Aug 5. Am J Med Genet A. 2021. PMID: 34355505 Free PMC article.
Two children had loss-of-function variants in TUBE1. Four children had rare missense or nonsense variants (one per child) in WNT3, CRKL, MYH9, or LZTR1, genes previously associated with BE. ...Variants in two genes identified may implicate disruption in cell migration ( …
Two children had loss-of-function variants in TUBE1. Four children had rare missense or nonsense variants (one per child) in WNT3, CR …
CEP44 ensures the formation of bona fide centriole wall, a requirement for the centriole-to-centrosome conversion.
Atorino ES, Hata S, Funaya C, Neuner A, Schiebel E. Atorino ES, et al. Nat Commun. 2020 Feb 14;11(1):903. doi: 10.1038/s41467-020-14767-2. Nat Commun. 2020. PMID: 32060285 Free PMC article.
Depletion of the luminal centriole protein CEP44 that binds to the A-microtubules and interacts with POC1B affecting centriole structure and centriole conversion, despite CEP295 binding to centrioles. Impairment of POC1B, TUBE1 or TUBD1, which disturbs integrity of centrio …
Depletion of the luminal centriole protein CEP44 that binds to the A-microtubules and interacts with POC1B affecting centriole structure and …
Machine learning-based identification of diagnostic and prognostic mitotic cell cycle genes in hepatocellular carcinoma.
Sucularli C. Sucularli C. PLoS One. 2025 Aug 28;20(8):e0331118. doi: 10.1371/journal.pone.0331118. eCollection 2025. PLoS One. 2025. PMID: 40875626 Free PMC article.
Nine genes, CDKN3, TRIP13, RACGAP1, FBXO43, EZH2, SPDL1, E2F1, TUBE1 and CDC6, were common in SVM-RFE and RF-RFE and showed robust individual diagnostic performance across datasets (AUCs > 0.81). ...
Nine genes, CDKN3, TRIP13, RACGAP1, FBXO43, EZH2, SPDL1, E2F1, TUBE1 and CDC6, were common in SVM-RFE and RF-RFE and showed robust in …
Construction and validation of a novel Ferroptosis-related gene signature predictive model in rectal Cancer.
Shi WK, Liu YX, Qiu XY, Zhou JY, Zhou JL, Lin GL. Shi WK, et al. BMC Genomics. 2022 Nov 22;23(1):764. doi: 10.1186/s12864-022-08996-6. BMC Genomics. 2022. PMID: 36414988 Free PMC article.
A novel FRGs signature with 14 genes related to the overall survival (OS) of RC was established. qRT-PCR of the 14 genes identified TP63, ISCU, PLIN4, MAP3K5, OXSR, FANCD2 and ATM were overexpressed in RC tissue; HSPB1, MAPK1, ABCC1, PANX1, MAPK9 and ATG7 were underexpressed; …
A novel FRGs signature with 14 genes related to the overall survival (OS) of RC was established. qRT-PCR of the 14 genes identified TP63, IS …
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.
Ben Cheikh BO, Baulac S, Lahjouji F, Bouhouche A, Couarch P, Khalili N, Regragui W, Lehericy S, Ruberg M, Benomar A, Heath S, Chkili T, Yahyaoui M, Jiddane M, Ouazzani R, LeGuern E. Ben Cheikh BO, et al. Neurogenetics. 2009 Feb;10(1):35-42. doi: 10.1007/s10048-008-0143-3. Epub 2008 Aug 29. Neurogenetics. 2009. PMID: 18758830
A high-density genome-wide scan with 10,000 SNPs established linkage by homozygosity mapping to a 14-Mb region on chromosome 6q16-q22. Candidate genes by function (TUBE1, GRIK2, GPRC6A, GPR6, NR2E1, MICAL1, and MARCKS) in this locus were screened for mutations....
A high-density genome-wide scan with 10,000 SNPs established linkage by homozygosity mapping to a 14-Mb region on chromosome 6q16-q22. Candi …
Identification of a ferroptosis-related gene signature for the prognosis of pediatric neuroblastoma.
Lin X, Shao K, Lin Z, Liang Q, Li X, Chen H, Wu J. Lin X, et al. Transl Cancer Res. 2024 Jul 31;13(7):3678-3694. doi: 10.21037/tcr-24-269. Epub 2024 Jul 26. Transl Cancer Res. 2024. PMID: 39145053 Free PMC article.
Five prognostic ferroptosis-related DEGs (pFR-DEGs) (STEAP3, MAP1LC3A, ULK2, MTOR and TUBE1), which were defined as the intersection of DEGs and prognostic ferroptosis-related genes, were identified and utilized to construct the prognostic signature. ...
Five prognostic ferroptosis-related DEGs (pFR-DEGs) (STEAP3, MAP1LC3A, ULK2, MTOR and TUBE1), which were defined as the intersection …
Identification and validation of a ferroptosis-related gene signature for predicting survival in skin cutaneous melanoma.
Ping S, Wang S, Zhao Y, He J, Li G, Li D, Wei Z, Chen J. Ping S, et al. Cancer Med. 2022 Sep;11(18):3529-3541. doi: 10.1002/cam4.4706. Epub 2022 Apr 4. Cancer Med. 2022. PMID: 35373463 Free PMC article.
RESULTS: A prognostic signature with 10 FRGs (CYBB, IFNG, FBXW7, ARNTL, PROM2, GPX2, JDP2, SLC7A5, TUBE1, and HAMP) was identified by Cox regression analysis. This signature had a higher prediction efficiency than clinicopathological features (AUC = 0.70). ...
RESULTS: A prognostic signature with 10 FRGs (CYBB, IFNG, FBXW7, ARNTL, PROM2, GPX2, JDP2, SLC7A5, TUBE1, and HAMP) was identified by …
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.
Tassano E, Mirabelli-Badenier M, Veneselli E, Puliti A, Lerone M, Vaccari CM, Morana G, Porta S, Gimelli G, Cuoco C. Tassano E, et al. Mol Cytogenet. 2015 Apr 28;8:31. doi: 10.1186/s13039-015-0134-7. eCollection 2015. Mol Cytogenet. 2015. PMID: 26052347 Free PMC article.
DISCUSSION: In our patient, the 6q21q22.1 deleted region contains ten genes (TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1) and two desert gene regions. We discuss here if these genes had some role in determining the phenotype of our patient in or …
DISCUSSION: In our patient, the 6q21q22.1 deleted region contains ten genes (TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST …
14 results