Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy by Jian Huang, Shuangna Song, Yihua Yin, Yinyan He, Huimin Wang, Ye Gu, Laman He, Xintao Wang, Xiaocao Miao, Zhigang Zhang, Xueli Zhang, Yiran Li, Yiran Li

“…One particular hotspot mutation POLEP286R was identified and further studied. …”
Get full text

Cardiovascular health in breast cancer patients: insight on BRCA1/2 mutations impact by Panagiotis Mallios, Mehdi Dehghan Manshadi, Laila Hubbert, Tajeri Aydin, Claudia Maes, Johanna Rantala, Annelie Liljegren, Narsis A. Kiani, Elham Hedayati

“…Advances in BC treatment have improved survival rates but increased the risk of CVD, particularly among younger patients with BRCA1/2 mutations. BRCA1/2 gene mutations, prevalent in younger BC patients, impair cardioprotective effects, elevating CVD risk alongside cancer treatments. …”
Get full text

Pyrosequencing Assay to Rapidly Detect Clarithromycin Resistance Mutations in Canadian Helicobacter pylori Isolates by R Slinger, L Yan, F Chan, K Forward, G Cooper-Lesins, L Best, D Haldane, S Veldhuyzen van Zanten

“…BACKGROUND: Mutations at positions 2142 or 2143 in the two-copy 23S ribosomal RNA gene of Helicobacter pylori are highly predictive of in vitro clarithromycin resistance and failure of clarithromycin-containing treatment regimens.…”
Get full text

Painless Livedoid Vasculopathy in a Patient with G20210A Prothrombin Gene Mutation by Aibek E. Mirrakhimov, Erwin Velasquez Kho, Alaa Ali

“…Heterozygous G20210A Prothrombin gene mutation was found, and the patient was started on anticoagulation. …”
Get full text

A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer by Richard J. Robbins, Jessica S. Thomas, Patricia Mejia Osuna, Jawairia Shakil

“…Genomic analysis found that her tumor did not contain any common RET mutations but did harbor a BRAF V600E mutation. Only one other well-confirmed example of the BRAF V600E mutation has been reported in an MTC patient. …”
Get full text

Point Mutations in the folP Gene Partly Explain Sulfonamide Resistance of Streptococcus mutans by W. Buwembo, S. Aery, C. M. Rwenyonyi, G. Swedberg, F. Kironde

“…Therefore, folP point mutations only partially explain bacterial resistance to sulfonamide.…”
Get full text

Theoretical and Empirical Analyses of an Improved Harmony Search Algorithm Based on Differential Mutation Operator by Longquan Yong, Sanyang Liu, Jianke Zhang, Quanxi Feng

“…In this paper, an improved harmony search method based on differential mutation operator (IHSDE) is proposed to deal with the optimization problems. …”
Get full text

A Mutation in IL4RA Is Associated with the Degree of Pathology in Human TB Patients by Christoph Hölscher, Lisa Heitmann, Ellis Owusu-Dabo, Rolf D. Horstmann, Christian G. Meyer, Stefan Ehlers, Thorsten Thye

Get full text

Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation by Sanjanaa Srinivasa, Sumedha Ballal, Preetha Tilak, Savitha Murali, Madhukara Jithendriya

Subjects: “…cathepsin c gene mutation…”
Get full text

Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency by Ana María Navarro, Gabriela Mantilla, Jorge Andrés Fernández, Mario Fernando Unigarro, Alfonso Suárez, María Claudia Ortega

Get full text

Effect of KRAS mutation status on clinicopathological characteristics and overall survival in patients with rectal cancer by Shengbin Zheng, Zhijie You, Guodon Guo, Zhijing Lin, Siming Wang, Guohua Yang

Subjects: Get full text

Tumor mutational burden quantification from targeted gene panels: major advancements and challenges by Sara Gandini, Laura Fancello, Pier Giuseppe Pelicci, Luca Mazzarella

“…Tumor mutational burden (TMB), the total number of somatic coding mutations in a tumor, is emerging as a promising biomarker for immunotherapy response in cancer patients. …”
Get full text

Diffusively-Coupled Rock-Paper-Scissors Game with Mutation in Scale-Free Hierarchical Networks by Takashi Nagatani, Genki Ichinose

“…We present a metapopulation dynamic model for the diffusively-coupled rock-paper-scissors (RPS) game with mutation in scale-free hierarchical networks. We investigate how the RPS game changes by mutation in scale-free networks. …”
Get full text

Commentary on LRAs targeting NF‐κB with epigenetic and mutational impacts on HIV latency by Shaoming Chen

Get full text

Corrigendum to “Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress” by Anna Tarocco, Elisa Ballardini, Maria Raffaella Contiero, Giampaolo Garani, Silvia Fanaro

Get full text

Solitary fibular metastasis from lung adenocarcinoma with gene mutation: a case report by Jiechen Chen, Ahmad Alkhatatbeh, Yinbing Lin, Xiaolin Lu, Bin Chen, Hongjiang Chen, Xiaohui Lu, Hansheng Wu, Jun Hu

“…Imaging revealed bony destruction of the right fibular head, and further investigations with chest CT, PET/C, pathologic biopsy and genetic testing identified a primary lung adenocarcinoma with EGFR exon 19 deletion mutation. The patient was treated with Osimertinib, resulting in significant tumor reduction. …”
Get full text

NOTIFICATION: The Role of Pathologists in Recognition of Morphologic and Biologic Features of Genetically Mutated Breast Cancer by The Breast Journal

Get full text

Characteristic craniofacial defects associated with a novel USP9X truncation mutation by Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro

“…Abstract Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. …”
Get full text

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome by Thi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen, Huy Hoang Nguyen

“…In patient 2, one heterozygous variant p.Glu117Lys and one novel heterozygous missense mutation p.Ser324Ala were identified. Finally, a novel missense mutation p.Arg802Leu and a novel nonsense mutation (c.2442C>G causing p.K792⁎) were identified in patient 3.…”
Get full text

Genomic and mutational analysis of Pseudomonas syringae pv. tagetis EB037 pathogenicity on sunflower by Jude E. Maul, John Lydon, Dilip Lakshman, Colin Willard, Hyesuk Kong, Daniel P. Roberts

“…The pTagA-like plasmid contained a complete Type IV secretion system (T4SS) with associated putative killer protein. Mutational analysis using transposon insertions within genes functioning in the T3SS and T4SS confirmed the role of both secretion systems and these plasmids in apical chlorosis. …”
Get full text