A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2 by D. E. Ivanoshchuk, E. V. Shakhtshneider, A. K. Ovsyannikova, S. V. Mikhailova, O. D. Rymar, V. I. Oblaukhova, A. A. Yurchenko, M. I. Voevoda

“…Clinical manifestations of MODY are heterogeneous and may vary even among members of the same family, i. e., carriers of identical mutations. This phenotypic variation is due to the interaction of mutations with different genetic backgrounds and the influence of environmental factors (e. g., lifestyle). …”
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A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report by Xin Liu, Kaiqing Liu, Lifu Hu, Zixiao Liu, Xinhua Liu, Jiantao Wang

“…The diagnosis of this disease is mainly based on clinical features combined with the detection of pathogenic gene mutations, mainly mutations in the transforming growth factor-beta (TGF-β) signaling pathway. …”
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EGFR-TKIs or EGFR-TKIs combination treatments for untreated advanced EGFR-mutated NSCLC: a network meta-analysis by Ao Liu, Xiaoming Wang, Lian Wang, Han Zhuang, Liubo Xiong, Xiao Gan, Qian Wang, Guanyu Tao

“…Abstract Background Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) and EGFR-TKI combination treatments have become the standard first-line treatments for EGFR-mutated non-small cell lung cancer (NSCLC) patients. …”
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Circulating resistin levels and mutation burden of the RETN gene variants predict long-term mortality in a Taiwanese population by Lung-An Hsu, Ming-Sheng Teng, Semon Wu, Mei-Siou Liao, Hsin-Hua Chou, Yu-Lin Ko

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Precise Detection of Gene Mutations in Fine-Needle Aspiration Specimens of the Papillary Thyroid Microcarcinoma Using Next-Generation Sequencing by Feng-xia Yu, Min-xia Hu, Han-xue Zhao, Li-juan Niu, Xue-yu Rong, Wei-hua Li, Qiang Zhu, Jian-ming Ying, Ning Lyu

“…Results. BRAF mutation was observed in 59 (81.94%) of 72 specimens. …”
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Aneuploidy Mechanisms in Human Colorectal Preneoplastic Lesions and Barrett’s Esophagus. Is There a Role for K-Ras and p53 Mutations? by Walter Giaretti

“…It appears that aneuploidy is linked with specific gene mutations, i.e., of the tumour suppressor gene p53 in chronic ulcerative colitis and in Barrett’s esophagus, and of the protooncogene K‐ras in colorectal adenomas. …”
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Exploring the role of ESR1 mutations in metastatic hormone receptor-positive breast cancer T cell immune surveillance disruption by Morgane Lopez, Laurie Spehner, Fabrice André, Julien Viot, Evan Seffar, Amélie Marguier, Elsa Curtit, Guillaume Meynard, Erion Dobi, Sylvain Ladoire, Romain Boidot, Romain Loyon, Valentin Derangere, François-Clément Bidard, Christophe Borg, Laura Mansi, Marie Kroemer

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A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles by Kuniyuki Nakamura, Tetsuro Ago, Akihiro Tsuchimoto, Nozomi Noda, Asako Nakamura, Toshiharu Ninomiya, Takeshi Uchiumi, Kazuhiko Tsuruya, Masahiro Kamouchi, Hiroaki Ooboshi, Takanari Kitazono

“…We found a novel heterozygous missense mutation of the NOTCH3 gene, c.4039G>C in exon 24, resulting in a p.Gly1347Arg substitution in its extracellular domain. …”
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CBL mutations in chronic myelomonocytic leukemia often occur in the RING domain with multiple subclones per patient: Implications for targeting. by Kelly Lim, Winnie L Kan, Pramod C Nair, Monika Kutyna, Angel F Lopez, Timothy Hercus, David M Ross, Steven Lane, Chun Yew Fong, Anna Brown, Agnes Yong, David Yeung, Timothy Hughes, Devendra Hiwase, Daniel Thomas

“…Clinically, CBL mutations were associated with increased bone marrow blasts at diagnosis, leukocytosis and splenomegaly, similar to patients harboring NRAS or KRAS mutations. …”
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Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency by Boonchai Boonyawat, Tim Phetthong, Nithipun Suksumek, Chanchai Traivaree

“…All affected males were hemizygous for G6PD mutations and had an average G6PD level of 16.7 ± 11.5 (3–76) IU/ml.RBC. …”
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Widespread anticoagulant resistance in house mice (Mus musculus musculus) linked to the Tyr139Phe mutation in the Czech Republic by Marcela Frankova, Zuzana Starostova, Radek Aulicky, Vaclav Stejskal

“…This study newly analysed the VKORC1 gene in M. m. musculus field populations from Czech farms and grain stores and identified a nonsynonymous mutation Tyr139Phe. This mutation was common throughout the Czech Republic and was present in 80.2% of the 86 individuals sampled. …”
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A single mutation in dairy cow-associated H5N1 viruses increases receptor binding breadth by Marina R. Good, Monica L. Fernández-Quintero, Wei Ji, Alesandra J. Rodriguez, Julianna Han, Andrew B. Ward, Jenna J. Guthmiller

“…We identify a single mutation outside of the receptor binding site, T199I, is responsible for increased binding breadth, as it increases receptor binding site flexibility. …”
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WeiFu: A Novel Pan-Cancer Driver Gene Identification Method Using Incidence-Weighted Mutation Scores by Yanjie Ren, Azlan Mohd Zain, Yan Zhang, Rozita Abdul Jalil, Mahadi Bahari, Norfadzlan Bin Yusup, Mazlina Abdul Majid, Azurah A. Samah, Didik Dwi Prasetya, Nurhafizah Moziyana Mohd Yusop

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Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyperprolificacy phenotype in sheep. by Julie Demars, Stéphane Fabre, Julien Sarry, Raffaella Rossetti, Hélène Gilbert, Luca Persani, Gwenola Tosser-Klopp, Philippe Mulsant, Zuzanna Nowak, Wioleta Drobik, Elzbieta Martyniuk, Loys Bodin

“…Thus, we have identified two novel mutations in the BMP15 gene associated with increased LS and OR. …”
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Unsupervised detection of novel SARS-CoV-2 mutations and lineages in wastewater samples using long-read sequencing by Ignacio Garcia, Rasmus K. Riis, Line V. Moen, Andreas Rohringer, Elisabeth H. Madslien, Karoline Bragstad

“…HERCULES identifies and quantifies mutations and lineages without requiring database-guided deconvolution, enhancing the detection of novel variants. …”
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A Disentangled Representation-Based Multimodal Fusion Framework Integrating Pathomics and Radiomics for KRAS Mutation Detection in Colorectal Cancer by Zhilong Lv, Rui Yan, Yuexiao Lin, Lin Gao, Fa Zhang, Ying Wang

Subjects: “…kras mutation detection…”
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Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment by Qing Liu, Ye Sun, Baodong He, Haodong Chen, Lijing Wang, Gaojie Wang, Kang Zhang, Ximeng Zhao, Xinzhe Zhang, Dongchao Shen, Xue Zhang, Liying Cui

“…Abstract Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but the underlying in vivo mechanisms remain unclear. …”
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PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation by Yin-Li Zhang, Zhanhong Hu, Huifang Jiang, Jiamin Jin, Yan Zhou, Mengru Lai, Peipei Ren, Siya Liu, Ying-Yi Zhang, Yan Rong, Wei Zheng, Shen Zhang, Xiaomei Tong, Songying Zhang

Subjects: “…PATL2 mutation…”
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Responsive afatinib treatment in high-grade salivary gland ductal carcinoma and NSCLC with uncommon EGFR mutations: Treatment outcomes by Sivakamavalli Jeyachandran

“…Similarly, in NSCLC, uncommon EGFR mutations historically resistant to conventional inhibitors respond favorably to afatinib, as evidenced by clinical trials and real-world data. …”
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Clinical Characteristics and Treatment Response of a Novel ELANE Gene Mutation (c.295_303del) in Congenital Neutropenia by Junjie Ning

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