S6P mutation in Delta and Omicron variant spike protein significantly enhances the efficacy of mRNA COVID-19 vaccines by Yong-Sik Bong, David Brown, Ezra Chung, Neeti Ananthaswamy, Renxiang Chen, Renxiang Chen, Evan Lewoczko, William Sabbers, Athéna C. Patterson-Orazem, Zachary Dorsey, Yiqing Zou, Xue Yu, Jiening Liang, Jiaxi He, Steven Long, Dong Shen

“…Both RV-1730 and RV-1731 provided superior protection in preclinical models, indicating enhanced efficacy due to the S6P mutation.ConclusionThe incorporation of the S6P mutation into the Delta variant spike protein significantly enhances the immunogenicity and efficacy of mRNA-based COVID-19 vaccines. …”
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Paying attention to the SARS-CoV-2 dialect : a deep neural network approach to predicting novel protein mutations by Magdalyn E. Elkin, Xingquan Zhu

“…Abstract Predicting novel mutations has long-lasting impacts on life science research. …”
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Corrigendum: Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation by Yu Huang, Yu Huang, Yu Huang, Lu Li, Lu Li, Ran Chen, Ran Chen, Lang Yu, Lang Yu, Shunkai Zhao, Yanjun Jia, Yanjun Jia, Ying Dou, Ying Dou, Ying Dou, Zhiyong Zhang, Zhiyong Zhang, Yunfei An, Yunfei An, Xuemei Tang, Xuemei Tang, Xiaodong Zhao, Xiaodong Zhao, Lina Zhou

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Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family by Pedro Marques, Sayka Barry, Amy Ronaldson, Arla Ogilvie, Helen L. Storr, Peter J. Goadsby, Michael Powell, Mary N. Dang, Harvinder S. Chahal, Jane Evanson, Ajith V. Kumar, Joan Grieve, Márta Korbonits

“…Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPAs). …”
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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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Using partially shared radiomics features to simultaneously identify isocitrate dehydrogenase mutation status and epilepsy in glioma patients from MRI images by Yida Wang, Ankang Gao, Hongxi Yang, Jie Bai, Guohua Zhao, Huiting Zhang, Yang Song, Chenglong Wang, Yong Zhang, Jingliang Cheng, Guang Yang

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Impact of MSI-H/dMMR on clinicopathological characteristics and prognosis of patients with BRAF V600E-mutated resectable colorectal cancer by LI Jun, LU Tingwei, FANG Xuqian

Subjects: “…|colorectal cancer|braf v600e mutation|mismatch repair deficiency|microsatellite instability|prognosis…”
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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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Le Coefficient de Biotope par Surface adapté sous l’angle des mutations spatiales des friches bruxelloises (Belgique) by Fiorella Quadu

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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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Comparative evaluation of antifungal susceptibility testing methods of invasive Candida species and detection of FKS genes mutations in caspofungin intermediate and resistant isolates by Dalia Saad ElFeky, Doaa Mahdy El-Wakil, Mai M. Mwafy, Mohamed M.A. Atia, Noha Mahmoud Gohar

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From Recurrent Syncope to Sudden Cardiac Death: Clinical Characteristics in a Chinese Patient Carrying a Plakophilin-2 Gene Mutation by Wenling Liu, Xiaoliang Qiu, Wen Liu, Dayi Hu, Tiangang Zhu, Chunling Wang, Dominik Beer, Li Zhang

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RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa by Satoshi Katagiri, Takaaki Hayashi, Masakazu Akahori, Takeshi Itabashi, Jo Nishino, Kazutoshi Yoshitake, Masaaki Furuno, Kazuho Ikeo, Tetsuji Okada, Hiroshi Tsuneoka, Takeshi Iwata

“…To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP). …”
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Genetic Mutations of Tim-3 Ligand and Exhausted Tim-3+ CD8+ T Cells and Survival in Diffuse Large B Cell Lymphoma by Tingting Zhang, Tianyuan Ren, Zheng Song, Jing Zhao, Lei Jiao, Zhenzhen Zhang, Jin He, Xianming Liu, Lihua Qiu, Lanfang Li, Shiyong Zhou, Bin Meng, Qiongli Zhai, Xiubao Ren, Zhengzi Qian, Xianhuo Wang, Huilai Zhang

“…Herein, we identified three genetic mutations in galectin-9, a major ligand of Tim-3, in six patients with DLBCL (6/188, 3.2%) that were not detected in the COSMIC database. …”
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CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency by Yujiro Yoshizaki, Yunosuke Ouchi, Dicky Kurniawan, Eisuke Yumoto, Yuki Yoneyama, Faiza Ramadhani Rizqullah, Hiyori Sato, Mirjam Hanako Sarholz, Toyoaki Natsume, Masato T. Kanemaki, Masanori Ikeda, Ayako Ui, Kenji Iemura, Kozo Tanaka

“…The majority of the mutations are premature termination codon (PTC) mutations, while missense mutations have also been reported. …”
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Solid Predominant Histology and High Podoplanin Expression in Cancer-Associated Fibroblast Predict Primary Resistance to Osimertinib in EGFR-Mutated Lung Adenocarcinoma by Yuji Uehara, MD, Hiroki Izumi, MD, PhD, Tetsuro Taki, MD, PhD, Tetsuya Sakai, MD, PhD, Hibiki Udagawa, MD, PhD, Eri Sugiyama, MD, PhD, Shigeki Umemura, MD, PhD, Yoshitaka Zenke, MD, PhD, Shingo Matsumoto, MD, PhD, Kiyotaka Yoh, MD, PhD, Shoko Kubota, MD, PhD, Keiju Aokage, MD, PhD, Naoya Sakamoto, MD, PhD, Shingo Sakashita, MD, PhD, Motohiro Kojima, MD, PhD, Michiko Nagamine, MD, PhD, Yukio Hosomi, MD, PhD, Masahiro Tsuboi, MD, PhD, Koichi Goto, MD, PhD, Genichiro Ishii, MD, PhD

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Oncogene mutations in non-small cell lung cancer patients in Iran: a study of their association with programmed death ligand-1 expression by Zahra Abrehdari-Tafreshi, Majid Pirestani, Zahra Mosaferi, Nasser Rakhshani, Ehsan Arefian

“…KRAS mutations were present in 7.1% of cases, with no significant association found between KRAS mutations and sex (p = 0.229). …”
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Comparative analysis of EGFR mutations in circulating tumor DNA and primary tumor tissues from lung cancer patients using BEAMing PCR by Duhita Mirikar, Nandini Banerjee, Kumar Prabhash, Rajiv Kumar Kaushal, Vanita Naronha, C. S. Pramesh, George Karimundackal, Amit Joshi, Swapnil Rane, Ranjan Basak

“…Noninvasive mutation detection by assessing circulating tumor DNA (ctDNA) offers many advantages over tumor biopsy. …”
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