Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter by Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk

Subjects: Get full text

Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study by Huifeng Fan, Zhiyong Yang, Yuhui Wu, Xiulan Lu, Tian Li, Xuyang Lu, Gen Lu, Liming He, Guoping Lu, Li Huang

Subjects: Get full text

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…”
Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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…”
Get full text

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

Subjects: Get full text

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. …”
Get full text

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

Get full text

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. …”
Get full text

L’activité verrière en France entre le viiie et le xie siècle. Résilience et mutations d’une production artisanale by Inès Pactat

Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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

Get full text

CSF3R Gln776X and ASXL1 mutations in multiple myeloma associated with chronic neutrophilic leukemia: case report and literature review by Ying Han, Yajun Shi, Tao Wu, Jinmao Zhou

Get full text

Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome by Juan M. Marqués-Lespier, Yaritza Diaz-Algorri, Maria Gonzalez-Pons, Marcia Cruz-Correa

“…To our knowledge, this mutation has not been previously reported in the literature. …”
Get full text

Erratum: Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in carcinogenesis by Frontiers Production Office

Subjects: Get full text

Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation by Ruixin Wu, Ruixin Wu, Sihao Chen, Sihao Chen, Yi He, Yi He, Ya Li, Song Mu, Aishun Jin, Aishun Jin

Subjects: Get full text