... 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) . Correspondence: Rosalin Bonetta Valentino ( r.bonetta@qmul.ac.uk ) mutation structural...

... 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 characteristics of the patients, as a hormonally regulated disease [ 4 ], EC can...

... establishing a liver–α-cell axis described recently. We reported previously that the knock-in mice bearing homozygous V369M substitution (equivalent to a naturally occurring mutation V368M in the human glucagon receptor, GCGR) led to hypoglycemia with improved glucose tolerance. They also exhibited...

... increases from psychrophiles to thermophiles. How this ultimately affects the mutational tolerance and evolutionary rate of temperature adapted organisms is currently unknown. Correspondence: Stewart Gault ( s.a.gault@sms.ed.ac.uk ) 04 02 2021 29 03 2021 19 04 2021 19 04 2021...

... 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...

.... To determine the diagnosis and pathogenic mutations of this pedigree, whole exome sequencing, Sanger sequencing and real-time quantitative PCR were performed to detect all the four family members. Our results showed that a new form of compound heterozygous mutation in the PRKN gene, consisting of heterozygous...

... 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) . mitochondrial tRNA mutation obesity Dear Editor, We thank Dr. Finsterer for the inquiry regarding the report about...

... of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) . mitochondrial mtdna mutation obesity tRNA Dear Editor, The authors declare that there are no competing interests associated with the manuscript. The author declares...

...) 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...

... 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...

...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...

..., 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...

...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...

.... It eventually leads to tunnel vision and legal or total blindness. Here, we aimed to reveal the causal gene and mutation contributing to the development of autosomal recessive RP (arRP) in a consanguineous family. A novel homozygous mutation, c.4845delT (p.K1616Rfs*46), in the ATP-binding cassette subfamily...

... BY) . allergies hypoallergern immunoterapy mutation Ricinus communis An allergy is commonly defined as a type I immediate hypersensitivity reaction, where the symptoms appear quickly and are caused by exposure to exogenous macromolecules, known as antigens or allergens, usually proteins or peptides...

...-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...

... in the peripheral visual field and decreased visual acuity. More than 50 RP-related genes have been identified. In the present study, we analysed a Chinese family with autosomal recessive RP. We identified a compound heterozygous mutation, c.265delC and c.1537G>A, in CNGA1 using targeted next-generation...

...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...

... 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...

... neuromuscular involvement. Until now, mutations in mitochondrial DNA, especially in the 12S rRNA, the tRNA Ser(UCN) and the tRNA Leu(UUR) genes, were implicated in syndromic or non-syndromic hearing loss either as a primary cause or as predisposing factors. In the present study, we performed a whole...

...Stefano Berrettini; Francesca Forli; Susanna Passetti; Anna Rocchi; Luca Pollina; Denise Cecchetti; Michelangelo Mancuso; Gabriele Siciliano Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic...

... 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...