Genes and light: many years later by A. O. Ruvinsky

Subjects: “…mutation, gene kit…”
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Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale by Richard W. Orton, Philip K. Hamilton, Timothy R. Frasier

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Fine mapping and expression characteristics analysis of male-sterile gene BrRNR1 in Chinese cabbage (Brassica rapa L. ssp. pekinensis) by Meihui Xue, Jiahang Li, Ruiqi Liao, Junjie Xu, Mingwei Zhou, Runpeng Yao, Zhiyong Liu, Hui Feng, Shengnan Huang

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Revealing the biological features of the axolotl pancreas as a new research model by Hui Ma, Hui Ma, Hui Ma, Guangcong Peng, Yan Hu, Binbin Lu, Binbin Lu, Yiying Zheng, Yingxian Wu, Weimin Feng, Yu Shi, Xiangyu Pan, Li Song, Ina Stützer, Yanmei Liu, Jifeng Fei, Jifeng Fei, Jifeng Fei

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Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient by Limin Li, Qiong Yan, Mingming Deng, Muhan Lü, Tiejun Zhou, Xiaolin Zhong

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STR profiling in a cohort of Saudi patients with acute leukemia by Husein A. Alhatim, PhD Student, Muhammad NH Abdullah, PhD, Suhaili A. Jamaludin, PhD, Armania B. Nurdin, PhD, Sayed A. Amer, PhD

Subjects: “…Genetic mutation…”
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“From in the light I touched the light” by Anne-Laure Tissut

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MASH as an emerging cause of hepatocellular carcinoma: current knowledge and future perspectives by Michael Karin, Ju Youn Kim

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Interactions between key genes and pathways in prostate cancer progression and therapy resistance by Fan Wu, Hengsen Zhang, Miaomiao Hao

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Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review by Maria Veatriki Christodoulou, MD, MSc, Nikoletta Anagnostou, MD, MSc, Anastasia K. Zikou, MD, PhD

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Genomic Variation in Dengue Virus Non-Structural Protein 5 (NS5). by Saira Mushtaq, Malik Ihsan Ullah Khan, Muhammad Tahir Khan, Aneeqa Shahid, Rameesha Shafiq, Sarwat Jahan

Subjects: “…Dengue virus, Whole Genome Sequencing, mutation, NS5, Pakistan…”
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Dihydrotanshinone I enhanced BRAF mutant melanoma treatment efficacy by inhibiting the STAT3/SOX2 signaling pathway by Xing Luo, Yi Duan, Jinwei He, CongGai Huang, Jun Liu, Yifan Liu, Mengdei Xu, Qiong Dai, Zhihui Yang

Subjects: “…BRAF mutation…”
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Clinical and molecular characteristics and long-term outcomes of pediatric intracranial meningiomas: a comprehensive analysis from a single neurosurgical center by Leihao Ren, Jiaojiao Deng, Hiroaki Wakimoto, Qing Xie, Ye Gong, Lingyang Hua

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Ecological and genetic assessment of the consequences of radiation influence on contaminated areas by A. B. Bigaliev, K. Z. Shalabaeva, B. E. Shimshikov, S. S. Kobegenova, L. M. Adilova, A. N. Kozhakhmetova, S. Sharakhmetov, M. N. Burkhanova

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EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report by Hiroyuki Fujii, MD, Yusuke Okuma, MD, PhD, Makoto Hirata, MD, PhD, Yuki Shinno, MD, PhD, Tatsuya Yoshida, MD, PhD, Yasushi Goto, MD, PhD, Hidehito Horinouchi, MD, PhD, Noboru Yamamoto, MD, PhD, Yuichiro Ohe, MD, PhD

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Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation by Xiaojun Wen, Zhiming Li, Lizi Cheng, Jianhong Wei, Wenjuan Yu, Xiufeng Lin, Xiufeng Lin, Xiaowu Fang

“…Therefore, in this study, we aimed to elucidate the genetic etiology of two cases of male infertility resulting from SOA and clarify the novel clinical phenotype associated with a heterozygous mutation at the c.346-1G>A site of the SOHLH1 gene.Methods and resultsThrough whole-exome sequencing, we found that patients with SOA carried heterozygous mutations at the c.346-1G>A site. …”
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HIV-1 resistance mutations and genetic diversity among children failing antiretroviral treatment in five healthcare facilities in Benin, West Africa. by Edwige Hermione Dagba Gbessin, Edmond Tchiakpe, René Kpemahouton Keke, Nicole Vidal, Michel Kiréopori Gomgnimbou, Haziz Sina, Euloge Senan Adjou, Aldric Afangnihoun, Moussa Bachabi, Akadiri Yessoufou, Abdoul-Salam Ouedraogo, Lamine Baba-Moussa

“…<h4>Background</h4>Antiretroviral treatment increases the risk of accumulation of resistance mutations that negatively impact the possibilities of future treatment. …”
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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

“…Mutations in this gene cause rhizomelic chondrodysplasia punctata, type 1 (RCDP1). …”
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Archived Cytogenetic Cell Pellets Used to Detect a BCR::ABL1 Driver Mutation Eight Years before Disease Presentation by Ramakrishnan Sasi, Michelle Spruill, Peter L. Perrotta

“…In chronic myeloid leukemia (CML), the BCR::ABL1 fusion driver mutation can be present for an extended period before clinical disease manifests. …”
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Staphylococcus aureus nt5 gene mutation through CRISPR RNA-guided base editing weakens bacterial virulence and immune evasion by Xinpeng Liu, Lan Huang, Yang Ye, Haiyi Wang, Min Tang, Fuqiang He, Zijing Xia, Shi Deng, Peng Zhang, Ruiwu Dai, Shufang Liang

“…Herein, to reveal nt5 gene role in drug resistance and infection ability of S. aureus, we performed nt5C166T gene mutation using a clustered regulatory interspaced short palindromic repeat ribonucleic acid (RNA)-guided base editing system to investigate the lose-of-function of NT5 protein. …”
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