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Keywords: mutation
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Biosci Rep (2024) 44 (2): BSR20230809.
Published: 28 February 2024
... Read & Publish agreement with Portland Press and the Biochemical Society under a transformative agreement with JISC. DNA repair genome stability germination mutation recombination Seed Biotechnology and Biological Sciences Research Council (BBSRC) 501100000268 BB/S002081/1...
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Biosci Rep (2023) 43 (10): BSR20231227.
Published: 25 October 2023
... bacterial species into a wall-deficient state called L-form. Long-term induced Escherichia coli L-forms lose their rod shape and usually hold significant mutations that affect cell division and growth. Besides this, the genetic background of L-form bacteria is still poorly understood. In the present study...
Includes: Supplementary data
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Biosci Rep (2022) 42 (6): BSR20220202.
Published: 17 June 2022
... 01 2022 10 05 2022 01 06 2022 06 06 2022 © 2022 The Author(s). 2022 This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) . mutation structural...
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Biosci Rep (2021) 41 (12): BSR20211719.
Published: 17 December 2021
... and distributed under the Creative Commons Attribution License 4.0 (CC BY) . endometrial carcinoma MCM methylation multiomics mutation Endometrial carcinoma (EC) is one of the most lethal malignant tumors of the female reproductive system worldwide [ 1–3 ]. According to the pathophysiological...
Includes: Supplementary data
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Biosci Rep (2021) 41 (4): BSR20210336.
Published: 30 April 2021
... increases from psychrophiles to thermophiles. How this ultimately affects the mutational tolerance and evolutionary rate of temperature adapted organisms is currently unknown. In order to predict the effect of mutations on the stability of temperature-adapted enzymes, two pieces of software were used...
Includes: Supplementary data
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Biosci Rep (2020) 40 (6): BSR20191304.
Published: 04 June 2020
... mutations in the FANCL URD domain. We analysed 17 such variants of FANCL, including known substrate binding mutants (W212A, W214A and L248A, F252A, L254A, I265A), a FA mutation (R221C) and 14 cancer-associated mutations (F110S, I136V, L149V, L154S, A192G, E215Q, E217K, R221W, T224K, M247V, F252L, N270K...
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Biosci Rep (2020) 40 (1): BSR20192153.
Published: 06 January 2020
...) of a single generation (of 3 alive generations) in this family. On pedigree analysis and sequencing of their mitochondrial DNA (mtDNA), a novel homoplasmic mutation of the mitochondrial tRNA Cys gene (5802A>G) was identified in these individuals. This mutation correlated with a destabilized conserved base...
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Biosci Rep (2019) 39 (4): BSR20182471.
Published: 30 April 2019
... gene ( BRCA1 ) and the breast cancer 2 gene ( BRCA2 ) are the two most-studied BC susceptibility genes. Genetic testing for disease-causing mutations in BRCA1, BRCA2 , and other BC susceptibility genes is strongly recommended for members of families having a BC family history. The present study found...
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Biosci Rep (2018) 38 (6): BSR20181389.
Published: 18 December 2018
...Hong Pan; Qiuhong Chen; Shenggui Qi; Tengyan Li; Beihong Liu; Shiming Liu; Xu Ma; Binbin Wang EPAS1 encodes HIF2 and is closely related to high altitude chronic hypoxia. Mutations in the EPAS1 coding sequence are associated with several kinds of human diseases, including syndromic congenital heart...
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Biosci Rep (2018) 38 (4): BSR20180322.
Published: 31 July 2018
..., impracticality of repeated biopsies, and cancer biomarker fallibility. Circulating tumor DNA (ctDNA) has recently been investigated as a non-invasive way to gain representative gene mutations in tumors, in addition to monitoring disease progression and response to treatment. We analyzed ctDNA mutations...
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Biosci Rep (2018) 38 (4): BSR20180056.
Published: 06 July 2018
...Zhiying Ou; Guangjian Liu; Wenping Liu; Yehua Deng; Ling Zheng; Shu Zhang; Guangqiang Feng Primary congenital glaucoma (PCG) is an inherited blinding eye disease. The CYP1B1 gene was identified as a causal gene for PCG, and many mutations have been found, but no studies have focussed...
Includes: Supplementary data
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Biosci Rep (2018) 38 (2): BSR20171245.
Published: 16 March 2018
... acid in each IgE-binding epitope are important for binding the allergen with IgE previously fixed on mast-cell and/or basophilic membranes, inducing cellular degranulation and releasing mediators that lead to the allergic symptoms [ 10 , 13 ]. Point mutations in the DNA coding for these amino acids...
Includes: Supplementary data
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Biosci Rep (2017) 37 (5): BSR20171099.
Published: 27 October 2017
...-terminal hydrolase L5 (UCHL5N), and BAP1N has confirmed that enzymatically BAP1 is similar to UCHL5, which corroborates with the bioinformatics analysis done earlier. We have undertaken extensive mutational approaches to gain mechanistic insight into BAP1–ubiquitin interaction. Based on the homology...
Includes: Supplementary data
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Biosci Rep (2014) 34 (2): e00104.
Published: 14 April 2014
...Meredith J. Layton; Natalie K. Rynkiewicz; Ivan Ivetac; Kristy A. Horan; Christina A. Mitchell; Wayne A. Phillips Oncogenic mutations in PIK3CA lead to an increase in intrinsic phosphoinositide kinase activity, but it is thought that increased access of PI3Kα (phosphoinositide 3-kinase α) to its PM...
Includes: Supplementary data
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Biosci Rep (2011) 31 (5): 411–419.
Published: 05 August 2011
... insights into these co-activator recruitments. Several mutations have been identified from the MODY patients and, among these, point mutations can be very instructive site-specific measures of protein function and structure. Thus, in the present study, we probed the functional effects of the two MODY point...
Includes: Supplementary data
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Biosci Rep (2007) 27 (1-3): 139–150.
Published: 13 June 2007
... of exercise training for patients with mtDNA defects, and the prevention of mtDNA disease transmission. © 2007 The Biochemical Society 2007 Mitochondria mtDNA Mutation Heteroplasmy Treatment Exercise Satellite cell ORI GI N A L P A PE R Experimental Strategies Towards Treating Mitochondrial...