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Rapid screening of UPB1 gene variations by high resolution melting curve analysis.
Xu X, Zheng J, Zou Q, Wang C, Zhang X, Wang X, Liu Y, Shu J. Xu X, et al. Exp Ther Med. 2021 Apr;21(4):403. doi: 10.3892/etm.2021.9834. Epub 2021 Feb 25. Exp Ther Med. 2021. PMID: 33692834 Free PMC article.
The present study aimed to analyze gene mutations in patients with beta-ureidopropinoase deficiency and establish a rapid detection method for beta-ureidopropinoase (UPB1) pathogenic variations by high resolution melting (HRM) analysis. ...Further rapid screening wa …
The present study aimed to analyze gene mutations in patients with beta-ureidopropinoase deficiency and establish a rapid detection m …
Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer.
Yokoi K, Nakajima Y, Matsuoka H, Shinkai Y, Ishihara T, Maeda Y, Kato T, Katsuno H, Masumori K, Kawada K, Yoshikawa T, Ito T, Kurahashi H. Yokoi K, et al. Cancer Sci. 2020 Sep;111(9):3359-3366. doi: 10.1111/cas.14553. Epub 2020 Jul 20. Cancer Sci. 2020. PMID: 32619063 Free PMC article.
Cancer treatment with a fluoropyrimidine (FP) is often accompanied by severe toxicity that may be dependent on the activity of catalytic enzymes encoded by the DPYD, DPYS, and UPB1 genes. Genotype-guided dose individualization of FP therapy has been proposed in west …
Cancer treatment with a fluoropyrimidine (FP) is often accompanied by severe toxicity that may be dependent on the activity of catalytic enz …
Contribution of the beta-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity.
Fidlerova J, Kleiblova P, Kormunda S, Novotny J, Kleibl Z. Fidlerova J, et al. Pharmacol Rep. 2012;64(5):1234-42. doi: 10.1016/s1734-1140(12)70919-2. Pharmacol Rep. 2012. PMID: 23238479 Free article.
The beta-ureidopropionase (BUP1) enzyme catalyzes the final step in the 5-FU catabolic pathway; however, alterations in the UPB1 gene coding for the BUP1 enzyme have not yet been analyzed in fluoropyrimidine (FP)-treated patients suffering from 5-FU-related toxicity …
The beta-ureidopropionase (BUP1) enzyme catalyzes the final step in the 5-FU catabolic pathway; however, alterations in the UPB1 g …
Case Report: A Case of beta-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant.
Shu J, Zhi X, Chen J, Lei M, Zheng J, Sheng W, Zhang C, Li D, Cai C. Shu J, et al. Front Pediatr. 2022 Feb 21;10:838341. doi: 10.3389/fped.2022.838341. eCollection 2022. Front Pediatr. 2022. PMID: 35265567 Free PMC article.
The whole-exome sequencing results revealed homozygous missense variant c.977G>A (p.R326Q) in UPB1. However, the patient presented with persistent hyperlactacidemia and metabolic acidosis, which did not correspond to the classic features of beta-ureidopropionase deficie …
The whole-exome sequencing results revealed homozygous missense variant c.977G>A (p.R326Q) in UPB1. However, the patient presented …
[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].
Shu J, Lin S, Meng Y, Zhang C, Xu H, Zhang Y, Huang J. Shu J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):647-50. doi: 10.3760/cma.j.issn.1003-9406.2015.05.008. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26418983 Chinese.
RESULTS A homozygous mutation c.977G>A was identified in exon 9 of the UPB1 gene in the proband. Both parents of the proband had heterozygous change of the same site. CONCLUSION The c.977G>A mutation of the UPB1 gene is responsible for the pathog …
RESULTS A homozygous mutation c.977G>A was identified in exon 9 of the UPB1 gene in the proband. Both parents of the proban …
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Righetti S, Allcock RJN, Yaplito-Lee J, Adams L, Ellaway C, Jones KJ, Selvanathan A, Fletcher J, Pitt J, van Kuilenburg ABP, Delatycki MB, Laing NG, Kirk EP. Righetti S, et al. Mol Genet Metab. 2022 Sep-Oct;137(1-2):62-67. doi: 10.1016/j.ymgme.2022.07.011. Epub 2022 Jul 25. Mol Genet Metab. 2022. PMID: 35926322
In particular, the variant most frequently reported as pathogenic, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 19 and 1 in 907 being homozygous for the variant in gnomAD v2.1.1. CONCLUSION: Pending the availability of further evidence, UPB1 …
In particular, the variant most frequently reported as pathogenic, p.Arg326Gln, is very common among East Asians, with a carrier frequency o …
Low UPB1 Level Correlates With Poor Prognosis in Lung Adenocarcinoma.
Zhang L, Liu J, Wang H, Xu Z, Wang Y, Chen Y, Peng H. Zhang L, et al. Appl Immunohistochem Mol Morphol. 2024 Jan 1;32(1):44-52. doi: 10.1097/PAI.0000000000001159. Epub 2023 Oct 20. Appl Immunohistochem Mol Morphol. 2024. PMID: 37859333
This study aimed to explore the expression profile and prognostic significance of UPB1 in LUAD. MATERIALS AND METHODS: The differential UPB1 levels in pan cancers and their prognostic significance were comprehensively investigated through Gene Expression Prof …
This study aimed to explore the expression profile and prognostic significance of UPB1 in LUAD. MATERIALS AND METHODS: The differenti …
Brassinosteroids regulate root meristem development by mediating BIN2-UPB1 module in Arabidopsis.
Li T, Lei W, He R, Tang X, Han J, Zou L, Yin Y, Lin H, Zhang D. Li T, et al. PLoS Genet. 2020 Jul 1;16(7):e1008883. doi: 10.1371/journal.pgen.1008883. eCollection 2020 Jul. PLoS Genet. 2020. PMID: 32609718 Free PMC article.
Here, we found that BIN2 interacts with and phosphorylates the UPB1 transcription factor consequently promoting UPB1 stability and transcriptional activity. Genetic analysis revealed that UPB1 deficiency could partially recover the short-root phenotype of BR- …
Here, we found that BIN2 interacts with and phosphorylates the UPB1 transcription factor consequently promoting UPB1 stability …
[Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency].
Shu J, Sun B, Wang C, Pan R, Meng Y, Zhang C, Cai C, Lin S, Zhang Y. Shu J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Dec 10;35(6):824-827. doi: 10.3760/cma.j.issn.1003-9406.2018.06.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30512155 Chinese.
METHODS: Genomic DNA was extracted from the peripheral blood samples of family members. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. ...Discovery of c.853G>A also enriched the mutation spectrum of …
METHODS: Genomic DNA was extracted from the peripheral blood samples of family members. All exons and flanking intron regions of the UPB1 …
Genetic analysis of the UPB1 gene in two new Chinese families with beta-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.
Shu J, Lv X, Jiang S, Zhang Y, Zhang C, Meng Y, Situ A, Xu H, Song L. Shu J, et al. Childs Nerv Syst. 2014 Dec;30(12):2109-14. doi: 10.1007/s00381-014-2541-1. Epub 2014 Sep 19. Childs Nerv Syst. 2014. PMID: 25236466
PURPOSE: The purpose of the study was to investigate mutations of the UPB1 gene in two Chinese families with beta-ureidopropionase deficiency and the heterozygous carrier frequency in Chinese. ...RESULTS: The two patients had the same homozygous missense mutation in …
PURPOSE: The purpose of the study was to investigate mutations of the UPB1 gene in two Chinese families with beta-ureidopropio …
44 results