Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia by Jessica Obst, Fabian N. Fries, Maryam Amini, Annamária Náray, Cristian Munteanu, Tanja Stachon, Shweta Suiwal, Neil Lagali, Berthold Seitz, Barbara Käsmann-Kellner, Nóra Szentmáry

“…Genetic testing was performed in 187 (55.5%) patients. A PAX6 mutation was detected in 174 of 187 (93%) cases, of which 20 (10.7%) had WAGR(O) syndrome. …”
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Systematic Review and Network Meta-Analysis on Treating Hormone Receptor-Positive Metastatic Breast Cancer After CDK4/6 Inhibitors by Neha Pathak, Abhenil Mittal, Sudhir Kumar, Chitrakshi Nagpal, Eitan Amir, Partha Haldar, Bharath B. Gangadharaiah, Akash Kumar, Ashutosh Mishra, Atul Batra

“…Three molecular subgroups were analyzed: HER2-low, PI3K/AKT/mTOR, and the ESR1 mutation subgroup for selective estrogen receptor degrader (SERD). …”
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Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses by Moriel H. Singer-Berk, Kelly E. Knickelbein, Zachary T. Lounsberry, Margo Crausaz, Savanna Vig, Nikhil Joshi, Monica Britton, Matthew L. Settles, Christopher M. Reilly, Ellison Bentley, Catherine Nunnery, Ann Dwyer, Mary E. Lassaline, Rebecca R. Bellone

“…Squamous cell carcinoma (SCC) is the most common periocular cancer in horses and the second most common tumor of the horse overall. A missense mutation in damage-specific DNA-binding protein 2 (DDB2, c.1012 C>T, p.Thr338Met) was previously found to be strongly associated with ocular SCC in Haflinger and Belgian horses, explaining 76% of cases across both breeds. …”
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Consequences of insecticide overuse in Hungary: assessment of pyrethroid resistance in Culex pipiens and Aedes albopictus mosquitoes by Rebeka Csiba, Zsaklin Varga, Dorina Pásztor, Bianka Süle, Vera Ihuoma Ogoke Mxinwa, Zoltán Soltész, Brigitta Zana, Krisztián Bányai, Gábor Kemenesi, Kornélia Kurucz

“…Results In Cx. pipiens, the kdr mutation was detected across all five collection sites, with resistance allele frequencies ranging from 18.1% to 36.3%. …”
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A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review by Ying Yang, Liqing Chen, Zhenzhen Wang, Yaling Ding, Yan Liu

“…Genotypes in non‐classic cases included missense mutations (40.9%), frameshift mutations (31.8%), splice site variants (9.1%), nonsense mutations (9.1%), deletions (4.5%), and truncations (4.5%). …”
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Tp53 determines the spatial dynamics of M1/M2 tumor-associated macrophages and M1-driven tumoricidal effects by Yi-Jing Hsiao, Min-Shu Hsieh, Gee-Chen Chang, Yin-Chen Hsu, Chia-Yu Wang, Yan-Ming Chen, Yi-Ling Chen, Pan-Chyr Yang, Sung-Liang Yu

“…EGFR and TP53 are among the most frequently mutated genes in lung adenocarcinoma. We characterized the mutation status and density of M1/M2 TAMs within tumor islets and stroma in 117 lung adenocarcinomas using next-generation sequencing and immunohistochemistry, respectively. …”
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Myristoylated Eepd1 Enhances Lipolysis and Thermogenesis through PKA Activation to Combat Obesity by Suzhen Chen, Yanping Wang, Qian Zhou, Qiqi Qian, Quanxin Jiang, Chuchu Liu, Yan Liu, Peihui Zhou, Jie Xiong, Yao Zhang, Ning Wang, Yang Emma Li, Limin Yin, Hongyuan Yang, Junli Liu

“…Notably, cold exposure enhances Eepd1’s myristoylation, facilitating its anchorage to adipocyte membranes and subsequent activation of PKA, while a mutation at the myristoylation site of Eepd1 disrupts this process. …”
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Combined pyrotinib and fulvestrant for hormone receptor‐positive and HER2‐positive metastatic breast cancer: A multicenter, single‐arm, phase II trial by Jianli Zhao, Yunfang Yu, Wei Ren, Linxiaoxiao Ding, Yongjian Chen, Peng Yuan, Jian Yue, Yaping Yang, Guorong Zou, Tao Chen, Jie Chai, Li Zhang, Wenjing Wu, Yinduo Zeng, Xiujuan Gui, Yangyang Cai, Simin Luo, Zhongyu Yuan, Kang Zhang, Herui Yao, Ying Wang

“…Responses were observed in patients with low tumor mutation burden and ZNF217 mutation. Importantly, no grade 4 or higher treatment‐related adverse events or deaths were reported, indicating a favorable safety profile. …”
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Lipoprotein Lipase and PPAR Alpha Gene Polymorphisms, Increased Very-Low-Density Lipoprotein Levels, and Decreased High-Density Lipoprotein Levels as Risk Markers for the Developme... by Márcia Dias Teixeira Carvalho, Diego Peres Alonso, Célia Maria Vieira Vendrame, Dorcas Lamounier Costa, Carlos Henrique Nery Costa, Guilherme Loureiro Werneck, Paulo Eduardo Martins Ribolla, Hiro Goto

“…High TAG (P = 0.021) and VLDL-C (P = 0.023) levels were associated with susceptibility to VL, whereas low HDL (P = 0.006) levels with resistance to infection. The mutated LPL and the PPARα Leu/Val genotypes may be considered risk markers for the development of VL.…”
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Template switching during DNA replication is a prevalent source of adaptive gene amplification by Julie N Chuong, Nadav Ben Nun, Ina Suresh, Julia Cano Matthews, Titir De, Grace Avecilla, Farah Abdul-Rahman, Nathan Brandt, Yoav Ram, David Gresham

“…Copy number variants (CNVs) are an important source of genetic variation underlying rapid adaptation and genome evolution. Whereas point mutation rates vary with genomic location and local DNA features, the role of genome architecture in the formation and evolutionary dynamics of CNVs is poorly understood. …”
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HPK1 kinase inhibitor: a sufficient approach to target HPK1 to modulate T cell activation in cancer immunotherapy compared with degraders by Qin Wang, Xinyi Zhu, Jing Li, Sanjia Xu, Ali Wang, Xinwen Zhang, Xingxing Wang, Xiaopeng Cai, Haimei Xing, Ye Liu, Xuesong Liu, Zhiwei Wang, Lai Wang, Lai Wang, Xi Yuan

“…The activation of HPK1-null cells, HPK1-wildtype cells and HPK1-kinase-inactive cells was compared through ectopic expression of HPK1 in HPK1 knockout cells or direct HPK1 mutation. Besides genetic validation, a series of compounds that selectively target HPK1 (with or without HPK1-degradation activity) were used to assess the potential scaffold function of HPK1 in regulation of human primary T cell activation and cytotoxic activity.Results and conclusionAugmented T-cell receptor (TCR)-induced activation in HPK1-knockout Jurkat cells was inhibited by complementation of wildtype, but not kinase-dead HPK1. …”
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Development of the novel gene chip and restriction fragment length polymorphism (RFLP) methods for rapid detection of Mycobacterium tuberculosis complex in broth culture by Wen-Hung Wang, Chun-Yu Lin, Shu-Huei Jain, Po-Liang Lu, Yen-Hsu Chen

“…False negatives in two isolates were due to a mutation in the AfeI site. Additionally, five cases showed MTBC presence when nontuberculous Mycobacterium species grew in cultures. …”
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Detection of Circulating Tumor DNA in Patients with Thyroid Nodules by Krupal B. Patel, Nicholas Cormier, James Fowler, Allison Partridge, Julie Theurer, Morgan Black, Nicole Pinto, John Yoo, Kevin Fung, Danielle MacNeil, William Stecho, Christopher Howlett, Muriel Brackstone, John W. Barrett, Anthony Nichols

“…Quantitative PCR was used to determine the levels of the BRAF (V600E) mutation preoperatively and postoperatively. Results. …”
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The expression landscape and clinical significance of methyltransferase-like 17 in human cancer and hepatocellular carcinoma: a pan-cancer analysis using multiple databases by Yezhou Ding, Mingyang Feng, Wanqing Chi, Xiaoyin Wang, Baoyan An, Kehui Liu, Shike Lou, Xiaolin Wang, Hui Wang

“…An array of bioinformatics methods was employed to explore the potential oncogenic roles of METTL17, including analyzing its related prognosis, mutation, landscapes, tumor stemness index, immune cell infiltration, and other factors among different tumors. …”
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Insights in biomarkers complexity and routine clinical practice for the diagnosis of thyroid nodules and cancer by Maria de Lurdes Godinho de Matos, Mafalda Pinto, Ana Gonçalves, Sule Canberk, Maria João Martins Bugalho, Paula Soares

“…The specificity of BRAF mutation in the diagnosis of papillary thyroid carcinoma (PTC) is nearly 100% but its sensitivity is below 35%. …”
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Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinic... by Guanfeng Lin, Yang Yang, Zefu Chen, Sen Zhao, Yuchen Niu, You Du, Yiwei Zhao, Shengru Wang, Nan Wu, Jianguo Zhang

“…Conclusions TACS patients had better surgical outcomes than NTACS patients, which means that genetic diagnosis of the TBX6 gene mutation in CS before surgery can help predict better surgical outcomes. …”
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Myosin-based nucleation of actin filaments contributes to stereocilia development critical for hearing by Zane G. Moreland, Fangfang Jiang, Carlos Aguilar, Melanie Barzik, Rui Gong, Ghazaleh Behnammanesh, Jinho Park, Arik Shams, Christian Faaborg-Andersen, Jesse C. Werth, Randall Harley, Daniel C. Sutton, James B. Heidings, Stacey M. Cole, Andrew Parker, Susan Morse, Elizabeth Wilson, Yasuharu Takagi, James R. Sellers, Steve D. M. Brown, Thomas B. Friedman, Gregory M. Alushin, Michael R. Bowl, Jonathan E. Bird

“…Moreover, a deafness-causing mutation in the MYO15A actin-binding interface inhibits nucleation activity but still preserves some movement on filaments in vitro and partial trafficking on stereocilia in vivo. …”
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Molecular characterization of EBV-associated primary pulmonary lymphoepithelial carcinoma by multiomics analysis by Meiling Yang, Guixian Zheng, Fukun Chen, Haijuan Tang, Yaoyao Liu, Xuan Gao, Yu Huang, Zili Lv, Benhua Li, Maolin Yang, Qing Bu, Lixia Zhu, Pengli Yu, Zengyu Huo, Xinyan Wei, Xiaoli Chen, Yanbing Huang, Zhiyi He, Xuefeng Xia, Jing Bai

“…Results Compared with other types of NSCLC and EBV+-NPC, pLEC patients exhibited a lower somatic mutation burden and extensive copy number deletions, including 1p36.23, 3p21.1, 7q11.23, and 11q23.3. …”
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Integrating single-cell RNA-Seq and bulk RNA-Seq data to explore the key role of fatty acid metabolism in hepatocellular carcinoma by Hua Dai, Xin Tao, Yuansen Shu, Fanrong Liu, Xiaoping Cheng, Xiushen Li, Bairui Shu, Hongcheng Luo, XuXiang Chen, Zhaorui Cheng

“…Further analytical procedures involved functional enrichment analysis, evaluation of immune infiltration, and examination of the mutation landscape.PTGES3 was identified as a pivotal gene associated with lipid metabolism. …”
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Lactate Dehydrogenase-A-Forming LDH5 Promotes Breast Cancer Progression by Fang T, Hu L, Chen T, Li F, Yang L, Liang B, Wang W, Zeng F

“…Patients’ nodal status, histological types, TP53 mutation status and PAM50 subtypes were significant factors influencing the LDHA expression. …”
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