Association of a non-synonymous substitution in the condensin NCAPG gene with traits of eggs in laying hens by O. Yu. Barkova, M. G. Smaragdov

Subjects: “…single nucleotide non-synonymous mutation…”
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Polymer interaction of the genes SHY2 and MSG1, NPH4 and IAR2 in the inheritance of the Arabidopsis thaliana (L.) Heynh. root system by S. G. Hablak

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Complete Genome Sequence Analysis of the First Imported Mpox Virus Clade Ib Variant in China by Yin Song, Yong Yan, Jingyu Xu, Shencong Lv, Ganglin Ren, Yamei Zhou, Wanchen Song, Rui Ge, Peihua Xu, Guoying Zhu, Zhongwen Chen

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Hereditary breast cancer risk gene assessment and counseling: interpretation of NCCN guidelines and Ruijin Hospital clinical practice by HAN Mengyuan, CHEN Xiaosong

Subjects: “…|breast cancer|hereditary risk gene|gene mutation|nccn guidelines|practice…”
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Elucidating the effects of manganese on the growth and cadmium accumulation of OsNRAMP5 mutant rice by Xian’an Yu, Qiuqin Zhou, Xin-Yuan Huang, Mingxue Chen, Jiawen Zhou, Tong Zhou, Pengjie Hu, Xia Pan, Miaomiao Cheng, Yongming Luo, Peter Christie, Longhua Wu

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Identifying Multiomic Signatures of X‐Linked Retinoschisis‐Derived Retinal Organoids and Mice Harboring Patient‐Specific Mutation Using Spatiotemporal Single‐Cell Transcriptomics by Yueh Chien, You‐Ren Wu, Chih‐Ying Chen, Yi‐Ping Yang, Lo‐Jei Ching, Bo‐Xuan Wang, Wei‐Chao Chang, I‐Hsun Chiang, Pong Su, Shih‐Yu Chen, Wen‐Chang Lin, I‐Chieh Wang, Tai‐Chi Lin, Shih‐Jen Chen, Shih‐Hwa Chiou

“…Herein, a multimodal approach is demonstrated combining high‐throughput scRNA‐seq and ST to elucidate XLRS‐specific transcriptomic signatures in two XLRS‐like models with retinal splitting phenotypes, including genetically engineered (Rs1emR209C) mice and patient‐derived retinal organoids harboring the same patient‐specific p.R209C mutation. Through multiomics transcriptomic analysis, the endoplasmic reticulum (ER) stress/eukryotic initiation factor 2 (eIF2) signaling, mTOR pathway, and the regulation of eIF4 and p70S6K pathways are identified as chronically enriched and highly conserved disease pathways between two XLRS‐like models. …”
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Machine Learning-Based Radiomics Analysis for Identifying KRAS Mutations in Non-Small-Cell Lung Cancer from CT Images: Challenges, Insights and Implications by Mirjam Schöneck, Nicolas Rehbach, Lars Lotter-Becker, Thorsten Persigehl, Simon Lennartz, Liliana Lourenco Caldeira

“…Kirsten Rat Sarcoma viral oncogene homolog (KRAS) is a frequently occurring mutation in non-small-cell lung cancer (NSCLC) and influences cancer treatment and disease progression. …”
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Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene by Katarzyna Ignasiak-Budzyńska, Mikołaj Danko, Janusz Książyk

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HBV DNA integration and somatic mutations in HCC patients with HBV-HCV dual infection reveals profiles intermediate between HBV- and HCV-related HCC by Chiao-Ling Li, Chia-Lang Hsu, You-Yu Lin, Ming-Chih Ho, Rey-Heng Hu, Sheng-Tai Tzeng, Ya-Chun Wang, Yasuhito Tanaka, Pei-Jer Chen, Shiou-Hwei Yeh

“…Results Next generation sequencing revealed that 55% of HBCV-HCCs exhibited clonal HBV integration, which falls between the rates observed in HBV-HCCs (88%) and HCV-HCCs (7%), with similar integration patterns to HBV-HCCs. Common HCC somatic mutation analysis indicated HCV superinfection in HBCV-HCCs correlated with increased mutation rates in the telomerase reverse transcriptase (TERT) promoter and beta-catenin genes. …”
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Food Intake and Core Body Temperature of Pups and Adults in a db Mouse Line Deficient in the Long Form of the Leptin Receptor without Misty Mutation by Wijang Pralampita Pulong, Miharu Ushikai, Emi Arimura, Masaharu Abe, Hiroaki Kawaguchi, Masahisa Horiuchi

“…In the most available db mouse line, wild-type (WT) mice have a mutation in the dedicator of cytokinesis 7 gene, named misty, which was recently revealed to be involved in neuronal development. …”
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L’activité verrière en France entre le viiie et le xie siècle. Résilience et mutations d’une production artisanale by Inès Pactat

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Reverse mutational scanning of SARS-CoV-2 spike BA.2.86 identifies epitopes contributing to immune escape from polyclonal sera by Najat Bdeir, Tatjana Lüddecke, Henrike Maaß, Stefan Schmelz, Ulfert Rand, Henning Jacobsen, Kristin Metzdorf, Upasana Kulkarni, Anne Cossmann, Metodi V. Stankov, Markus Hoffmann, Stefan Pöhlmann, Wulf Blankenfeldt, Alexandra Dopfer-Jablonka, Georg M. N. Behrens, Luka Čičin-Šain

“…Here we generate 33 BA.2.86 mutants, each reverting a single mutation back to BA.2. We use this library in an approach that we call reverse mutational scanning to define distinct neutralization titers against each epitope. …”
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A nonactivating ITGB3 mutation in the β3 cytoplasmic region causes macrothrombocytopenia with an impaired αIIbβ3/RhoA pathway by Keiichi Nakata, Keigo Akuta, Takaya Endo, Midori Koike, Daisuke Motooka, Daisuke Okuzaki, Hisashi Kato, Yoshiaki Tomiyama, Naoki Hosen, Hirokazu Kashiwagi

“…Abstract: Almost all mutations of ITGA2B or ITGB3 identified in congenital macrothrombocytopenia induce constitutive activation of αIIbβ3. …”
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Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis by YuZhi Shi, Bin Chen, SongTao Niu, XinGao Wang, ZaiQiang Zhang

“…Abstract Background A correlation between various sites or types of mutations in mitochondrial DNA ND3 and the development of a specific mitochondrial disease or phenotype has yet to be fully established. …”
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Phages adapt to recognize an O-antigen polysaccharide site by mutating the “backup” tail protein ORF59, enabling reinfection of phage-resistant Klebsiella pneumoniae by Ping Li, Wenjie Ma, Jun Cheng, Cuixing Zhan, Hongzhou Lu, Jiayin Shen, Xin Zhou

“…Upon exposure to phage predation, mutations in genes wbaP, wbaZ or wzc, which encode the synthesis of the CPS, conferred resistance by reducing phage adsorption. …”
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Secondary Acute Myeloid Leukemia in a One-Year-Old Girl Diagnosed with JAK2-V617F Mutation Positive Myeloproliferative Neoplasm by Gary M. Woods, Rajinder P. S. Bajwa, Samir B. Kahwash, Terri Guinipero

“…Myeloproliferative neoplasms (MPNs) are a group of clonal disorders characterized by hyperproliferation of hematologic cell lines and have been associated with tyrosine kinase JAK2-V617F mutations. Secondary acute myeloid leukemia (sAML) is a known complication of JAK2-V617F+ MPNs and bears a poor prognosis. …”
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Mokhtar Ben Barka, Le Protestantisme évangélique nord-américain en mutation : La gauche évangélique des origines à l'ère Obama by Dominique CADINOT

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Medullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients by Guenda Di Benedetto, Ignazio Barca, Laura De Gregorio, Claudia Scollo, Fiorenza Gianì, Federica Martorana, Marco Russo, Francesco Frasca, Gabriella Pellegriti, Gabriella Pellegriti, Giulia Sapuppo

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Guaaybess Tourya, Télévisions arabes sur orbite. Un système médiatique en mutation (1960-2004), CNRS Éditions, Paris, 2005, 264 p. by Larbi Chouikha

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ERRATUM: Acknowledgments Correction. Annotation of Genes Having Candidate Somatic Mutations in Acute Myeloid Leukemia with Whole-Exome Sequencing Using Concept Lattice Analysis by Kye Hwa Lee, Jae Hyeun Lim, Ju Han Kim

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