| Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders. | Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.
Baum E, Huang W, Vincent-Delorme C, Brunelle P, Antebi A, Dafsari HS., Free PMC Article | 03/13/2024 |
| PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C. | PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C.
Xu N, Ren Y, Bao Y, Shen X, Kang J, Wang N, Wang Z, Han X, Li Z, Zuo J, Wei GH, Wang Z, Zong WX, Liu W, Xie G, Wang Y. | 10/11/2023 |
| PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. | PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
Grimes H, Ansari M, Ashraf T, Cueto-González AM, Calder A, Day M, Fernandez Alvarez P, Foster A, Lahiri N, Repetto GM, Scurr I, Varghese V, Low KJ. | 09/23/2023 |
| The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Fennell AP, Baxter AE, Berkovic SF, Ellaway CJ, Forwood C, Hildebrand MS, Kumble S, McKeown C, Mowat D, Poke G, Rajagopalan S, Regan BM, Scheffer IE, Stark Z, Stutterd CA, Tan TY, Wilkins EJ, Yeung A, Hunter MF. | 11/19/2022 |
| PUF60 promotes glioblastoma progression through regulation of EGFR stability. | PUF60 promotes glioblastoma progression through regulation of EGFR stability.
Wang F, Peng L, Sun Y, Zhang B, Lu S. | 11/19/2022 |
| Poly(U) binding splicing factor 60 promotes renal cell carcinoma growth by transcriptionally upregulating telomerase reverse transcriptase. | Poly(U) binding splicing factor 60 promotes renal cell carcinoma growth by transcriptionally upregulating telomerase reverse transcriptase.
Long Q, Hua Y, He L, Zhang C, Sui S, Li Y, Qiu H, Tian T, An X, Luo G, Yan Y, Zhao A, Shi D, Xie F, Chen M, Zheng F, Deng W., Free PMC Article | 04/9/2022 |
| Unraveling the mechanism of recognition of the 3' splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60. | Unraveling the mechanism of recognition of the 3' splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60.
Hsiao HT, Crichlow GV, Murphy JW, Folta-Stogniew EJ, Lolis EJ, Braddock DT., Free PMC Article | 01/9/2021 |
| PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RNA recognition motif. | PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.
Královicová J, Ševcíková I, Stejskalová E, Obuca M, Hiller M, Stanek D, Vorechovský I., Free PMC Article | 08/3/2019 |
| 3 Verheij syndrome patients with de novo pathogenic variants in PUF60 are described. Mutations in gene PUF60 were analyzed. | Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.
Santos-Simarro F, Vallespin E, Del Pozo A, Ibañez K, Silla JC, Fernandez L, Nevado J, González-Pecellín H, Montaño VEF, Martin R, Alba Valdivia LI, García-Miñaúr S, Lapunzina P, Palomares-Bralo M. | 07/27/2019 |
| PUF60 is involved in: 1) up-regulation of core promoter activity through its interaction with transcription factor TCF7L2, 2) promotion of 3.5 kb RNA degradation and 3) suppression of 3.5 kb RNA splicing. | Involvement of PUF60 in Transcriptional and Post-transcriptional Regulation of Hepatitis B Virus Pregenomic RNA Expression.
Sun S, Nakashima K, Ito M, Li Y, Chida T, Takahashi H, Watashi K, Sawasaki T, Wakita T, Suzuki T., Free PMC Article | 06/29/2019 |
| Anti-PUF60 antibodies were nonspecific for myositis, since they could be detected in other rheumatic diseases. | The prevalence and clinical significance of anti-PUF60 antibodies in patients with idiopathic inflammatory myopathy.
Zhang YM, Yang HB, Shi JL, Chen H, Shu XM, Lu X, Wang GC, Peng QL. | 10/20/2018 |
| Authors report the identification of 25 DNVs out of which five were classified as pathogenic or likely pathogenic. A two base pair deletion was identified in the PUF60 gene. Result adds to the growing evidence that PUF60 is responsible for the majority of the symptoms reported for carriers of a microdeletion across this region. | Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao JJ, Halvardson J, Zander CS, Zaghlool A, Georgii-Hemming P, Månsson E, Brandberg G, Sävmarker HE, Frykholm C, Kuchinskaya E, Thuresson AC, Feuk L., Free PMC Article | 08/11/2018 |
| The present report describes a de novo missense mutation in PUF60, detected in a boy with multiple congenital anomalies. | A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.
Graziano C, Gusson E, Severi G, Isidori F, Wischmeijer A, Brugnara M, Seri M, Rossi C. | 05/5/2018 |
| PUF60 auto-antibodies are detected in the sera of early-stage colon cancer patients and level decreases after surgery. | Anti-FIRs (PUF60) auto-antibodies are detected in the sera of early-stage colon cancer patients.
Kobayashi S, Hoshino T, Hiwasa T, Satoh M, Rahmutulla B, Tsuchida S, Komukai Y, Tanaka T, Matsubara H, Shimada H, Nomura F, Matsushita K., Free PMC Article | 02/24/2018 |
| These results confirm that PUF60 is a major driver for the developmental, craniofacial, skeletal and cardiac phenotypes associated with the 8q24.3 microdeletion | Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hančárová M, Havlovicová M, Prchalová D, Sedláček Z, Gilissen C, Pfundt R, Wassink-Ruiter JSK, Faivre L., Free PMC Article | 07/29/2017 |
| Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies. | PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF., Free PMC Article | 04/29/2017 |
| Mutations in PUF60 gene is associated with idiopathic hypereosinophilic syndrome. | Whole-exome sequencing and genome-wide methylation analyses identify novel disease associated mutations and methylation patterns in idiopathic hypereosinophilic syndrome.
Andersen CL, Nielsen HM, Kristensen LS, Søgaard A, Vikeså J, Jønson L, Nielsen FC, Hasselbalch H, Bjerrum OW, Punj V, Grønbæk K., Free PMC Article | 10/8/2016 |
| Concomitant over expression of far upstream element (FUSE) binding protein (FBP) interacting repressor (FIR) and its splice variants induce migration and invasion of non-small cell lung cancer cells. | Concomitant expression of far upstream element (FUSE) binding protein (FBP) interacting repressor (FIR) and its splice variants induce migration and invasion of non-small cell lung cancer (NSCLC) cells.
Müller B, Bovet M, Yin Y, Stichel D, Malz M, González-Vallinas M, Middleton A, Ehemann V, Schmitt J, Muley T, Meister M, Herpel E, Singer S, Warth A, Schirmacher P, Drasdo D, Matthäus F, Breuhahn K. | 04/16/2016 |
| Overexpression of far upstream element (FUSE) binding protein (FBP)-interacting repressor (FIR) supports growth of hepatocellular carcinoma. | Overexpression of far upstream element (FUSE) binding protein (FBP)-interacting repressor (FIR) supports growth of hepatocellular carcinoma.
Malz M, Bovet M, Samarin J, Rabenhorst U, Sticht C, Bissinger M, Roessler S, Bermejo JL, Renner M, Calvisi DF, Singer S, Ganzinger M, Weber A, Gretz N, Zörnig M, Schirmacher P, Breuhahn K. | 05/16/2015 |
| High FBP-interacting repressor expression is associated with hepatocellular carcinoma. | Alternative splicing of FBP-interacting repressor coordinates c-Myc, P27Kip1/cyclinE and Ku86/XRCC5 expression as a molecular sensor for bleomycin-induced DNA damage pathway.
Rahmutulla B, Matsushita K, Satoh M, Seimiya M, Tsuchida S, Kubo S, Shimada H, Ohtsuka M, Miyazaki M, Nomura F., Free PMC Article | 02/21/2015 |
| The interaction between SAP155 and FIR/FIRDeltaexon2 not only integrates cell-cycle progression and c-Myc transcription by modifying P27 and P89 expression. | Interactions between SAP155 and FUSE-binding protein-interacting repressor bridges c-Myc and P27Kip1 expression.
Matsushita K, Tamura M, Tanaka N, Tomonaga T, Matsubara H, Shimada H, Levens D, He L, Liu J, Yoshida M, Nomura F., Free PMC Article | 04/26/2014 |
| Haploinsufficiency of each of SCRIB or PUF60 contribute uniquely to specific endophenotypes (e.g., coloboma, heart defects), and binary interaction potentially exacerbates other aspects of the clinical pathology of individuals with 8q24.3 deletion. | SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N., Free PMC Article | 01/4/2014 |
| Circulating FIR variant mRNA in the peripheral blood of cancer patients were significantly overexpressed compared to that in healthy volunteers. | SAP155-mediated c-myc suppressor far-upstream element-binding protein-interacting repressor splicing variants are activated in colon cancer tissues.
Kajiwara T, Matsushita K, Itoga S, Tamura M, Tanaka N, Tomonaga T, Matsubara H, Shimada H, Habara Y, Matsuo M, Nomura F., Free PMC Article | 07/6/2013 |
| Data indicate that altered FIR and c-myc pre-mRNA splicing, in addition to c-Myc expression by augmented FIR/FIRDeltaexon2-SAP155 complex, potentially contribute to colorectal cancer development. | SAP155-mediated splicing of FUSE-binding protein-interacting repressor serves as a molecular switch for c-myc gene expression.
Matsushita K, Kajiwara T, Tamura M, Satoh M, Tanaka N, Tomonaga T, Matsubara H, Shimada H, Yoshimoto R, Ito A, Kubo S, Natsume T, Levens D, Yoshida M, Nomura F., Free PMC Article | 11/3/2012 |
| FIR is monomeric in solution but dimerizes upon DNA binding; DNA-induced dimerization is mediated by FIR's RNA recognition motif. | Quantitative characterization of the interactions among c-myc transcriptional regulators FUSE, FBP, and FIR.
Hsiao HH, Nath A, Lin CY, Folta-Stogniew EJ, Rhoades E, Braddock DT. | 08/16/2010 |