1,338,924 results match your criteria: "Genetic Variation"

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Sustained human outbreak of a new MPXV clade I lineage in eastern Democratic Republic of the Congo.
Emmanuel Hasivirwe Vakaniaki, Cris Kacita, Eddy Kinganda-Lusamaki, Áine O'Toole, Tony Wawina-Bokalanga

Nat Med· October 2024

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Quantifying Triglyceride-Rich Lipoprotein Atherogenicity, Associations With Inflammation, and Implications for Risk Assessment Using Non-HDL Cholesterol.
Elias Björnson, Martin Adiels, Anders Gummesson, Marja-Riitta Taskinen, Stephen Burgess

J Am Coll Cardiol· October 2024

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SMIM1 absence is associated with reduced energy expenditure and excess weight.
Luca Stefanucci, Camous Moslemi, Ana R Tomé, Samuel Virtue, Guillaume Bidault

Med· September 2024

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A new Finnish flavor of feline coat coloration, "salmiak," is associated with a 95-kb deletion downstream of the KIT gene.
Heidi Anderson, Milla Salonen, Sari Toivola, Matthew Blades, Leslie A Lyons

Anim Genet· August 2024

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Datasets-Based Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic.
Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xiaoyun Jia

Curr Eye Res· August 2024

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The rate and nature of mitochondrial DNA mutations in human pedigrees.
Erla R Árnadóttir, Kristján H S Moore, Valdís B Guðmundsdóttir, S Sunna Ebenesersdóttir, Kamran Guity

Cell· July 2024

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Multiple mutations in the Nav1.4 sodium channel of New Guinean toxic birds provide autoresistance to deadly batrachotoxin.
Kasun H Bodawatta, Haofu Hu, Felix Schalk, Jan-Martin Daniel, Gibson Maiah

May 2024

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Putting the STING back into BH3-mimetic drugs for TP53-mutant blood cancers.
Sarah T Diepstraten, Yin Yuan, John E La Marca, Savannah Young, Catherine Chang

Cancer Cell· May 2024

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A glycolytic metabolite bypasses "two-hit" tumor suppression by BRCA2.
Li Ren Kong, Komal Gupta, Andy Jialun Wu, David Perera, Roland Ivanyi-Nagy

Cell· April 2024

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Phase II Study of Erdafitinib in Patients With Tumors With Fibroblast Growth Factor Receptor Mutations or Fusions: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol K2.
Jun Gong, Alain C Mita, Zihan Wei, Heather H Cheng, Edith P Mitchell

JCO Precis Oncol· April 2024

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Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management.
Ayalew Tefferi, Alessandro Maria Vannucchi, Tiziano Barbui

Am J Hematol· April 2024

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Discovery of Red-Shifting Mutations in Firefly Luciferase Using High-Throughput Biochemistry.
Clair M Colee, Nicole M Oberlag, Marcell Simon, Owen S Chapman, Lyndsey C Flanagan

Biochemistry· March 2024

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CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut.
Shanzhen Peng, Jing Jing Li, Wanying Song, Ye Li, Lei Zeng

March 2024

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Comprehensive review of CRISPR-based gene editing: mechanisms, challenges, and applications in cancer therapy.
Mohammad Chehelgerdi, Matin Chehelgerdi, Milad Khorramian-Ghahfarokhi, Marjan Shafieizadeh, Esmaeil Mahmoudi

Mol Cancer· January 2024

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Genomic evidence for West Antarctic Ice Sheet collapse during the Last Interglacial.
Sally C Y Lau, Nerida G Wilson, Nicholas R Golledge, Tim R Naish, Phillip C Watts

December 2023

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HERTHENA-Lung01, a Phase II Trial of Patritumab Deruxtecan (HER3-DXd) in Epidermal Growth Factor Receptor-Mutated Non-Small-Cell Lung Cancer After Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor Therapy and Platinum-Based Chemotherapy.
Helena A Yu, Yasushi Goto, Hidetoshi Hayashi, Enriqueta Felip, James Chih-Hsin Yang

J Clin Oncol· December 2023

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Clinical Efficacy of ONC201 in H3K27M-Mutant Diffuse Midline Gliomas Is Driven by Disruption of Integrated Metabolic and Epigenetic Pathways.
Sriram Venneti, Abed Rahman Kawakibi, Sunjong Ji, Sebastian M Waszak, Stefan R Sweha

Cancer Discov· November 2023

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Neural signal propagation atlas of Caenorhabditis elegans.
Francesco Randi, Anuj K Sharma, Sophie Dvali, Andrew M Leifer

Nature· November 2023

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Rare variant associations with plasma protein levels in the UK Biobank.
Ryan S Dhindsa, Oliver S Burren, Benjamin B Sun, Bram P Prins, Dorota Matelska

Nature· October 2023

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Simultaneous Covalent Modification of K-Ras(G12D) and K-Ras(G12C) with Tunable Oxirane Electrophiles.
Zhongtang Yu, Xiaoqiang He, Ruiliu Wang, Xinxin Xu, Zhang Zhang

September 2023

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Mutational landscape of intestinal crypt cells after long-term in vivo exposure to high fat diet.
Mathilde Meyenberg, Anna Hakobyan, Nikolina Papac-Milicevic, Laura Göderle, Franziska L Langner

Sci Rep· August 2023

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Duchenne muscular dystrophy: pathogenesis and promising therapies.
Mengyuan Chang, Yong Cai, Zihui Gao, Xin Chen, Boya Liu

August 2023

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Maximum mutational robustness in genotype-phenotype maps follows a self-similar blancmange-like curve.
Vaibhav Mohanty, Sam F Greenbury, Tasmin Sarkany, Shyam Narayanan, Kamaludin Dingle

J R Soc Interface· July 2023

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Male origin microchimerism and brain cancer: a case-cohort study.
Mads Kamper-Jørgensen, Marianne Antonius Jakobsen, Anne Tjønneland, Jane Skjøth-Rasmussen, Gitte Lindved Petersen

July 2023

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Discovering functionally important sites in proteins.
Matteo Cagiada, Sandro Bottaro, Søren Lindemose, Signe M Schenstrøm, Amelie Stein

Nat Commun· July 2023

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Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Elise Brimble, Kathryn G Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R Z Ruzhnikov

Orphanet J Rare Dis· June 2023

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Tumour mutations in long noncoding RNAs enhance cell fitness.
Roberta Esposito, Andrés Lanzós, Tina Uroda, Sunandini Ramnarayanan, Isabel Büchi

Nat Commun· June 2023

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Deep learning-based MRI model for predicting P53-mutated hepatocellular carcinoma.
Lulu Jia, Qing Yang, Hanchen Jiang, Gang Huang, Zhijun Wang

BMC Med Imaging· December 2025

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Phylogenetic and pathogenic description of Enterococcus faecalis at a Northern Chinese hospital.
Jingliang Qin, Jiayi Zhang, Jing Wang, Yongming Shen, Nan Chen

BMC Microbiol· December 2025

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Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene.
Hideaki Moteki, Shin-Ya Nishio, Shin-Ichi Usami

Sci Rep· December 2025

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The fru gene specifies male cooperative behaviors in honeybee colonies.
Sven Köhnen, Pia Ulbricht, Alina Sturm, Julie Carcaud, Jean-Christophe Sandoz

Nat Commun· December 2025

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Spatially resolved whole-transcriptomic profiling of EGFR-mutated lung adenocarcinomas stratified by PD-L1 expression.
Chenxi Yu, Chenxi Shi, Hao Zhou, Na Li, Ruyi Ma

Cell Oncol (Dordr)· December 2025

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Differential expression genes in the eye-transcriptomes of the riverine and marine grass puffer (Takifugu niphobles).
Misa Osada, Yohey Terai

Sci Rep· December 2025

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Improving the performance of polymerase chain reaction for microsatellite instability testing in endometrial cancer.
Marta Mendiola, Victoria Heredia-Soto, Amparo Baillo, Ignacio Ruz-Caracuel, Rocio Mena

Sci Rep· December 2025

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Genetic diversity analysis and multi-fingerprint map construction of Naematelia aurantialba germplasm resources.
Yukang Zeng, Zhenhui Shen, Yao Cao, Xiangying Luo, Linlei Yang

Sci Rep· December 2025

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Comparative chloroplast genomics of Teucrium species reveals genome evolution, phylogenetic relationships, and candidate molecular markers.
Fatemeh Alsadat Hejazi, Parisa Mohammadi, Aboozar Soorni

Sci Rep· December 2025

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Oncolytic adenovirus delivery of neoantigens sensitizes low-mutation tumors to anti-PD-1 therapy and prevents metastasis.
Ke-Yu Shen, Shi-Zhe Yu, Ying-Han Su, Sun-Zhe Xie, Chen Zhang

Signal Transduct Target Ther· December 2025

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The comet assay as a tool in human biomonitoring studies: Effects of confounding factors.
Peter Møller, Goran Gajski, Marko Gerić, Lisa Giovannelli, Amaya Azqueta

Mutat Res Rev Mutat Res· December 2025

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Cytosolic DNA in radiotherapy: relevance, mechanisms, and detection.
Emily Poulton, Ayeisha Desjardins, Shane M Harding, Lucie Malbeteau, Marianne Koritzinsky

Radiother Oncol· January 2026

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Generation of an induced pluripotent stem cell line (HPCHi002-A) derived from a dilated cardiomyopathy patient harboring heterozygous mutations c.644G > T (p.Arg215Leu) in the TNNT2 gene.
Yongjuan Yuan, Xiaowei Li, Ningyu Ding, Jianzeng Dong, Youjian Zhang

Stem Cell Res· December 2025

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Generation of two induced pluripotent stem cell lines (FDCHi011-A and FDCHi016-A) from different patients with NBIA5 syndrome carrying WDR45 m.700C > T and m.888G > A mutation.
Tingting Yin, Ping Dong, XiaoJuan Shi, Zhelan Huang, Xiaohong Guo

Stem Cell Res· December 2025

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The role of IL-4 -589C/T and IL-5 - 746C>T polymorphisms in susceptibility to tuberculosis infection in a Sudanese population: A case-control study.
Salma A Moharrum, Naser Eldin Bilal, Najwa A Mhmoud

Int J Infect Dis· January 2026

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Effect of the rs7858836 Single-Nucleotide Polymorphisms of the ASTN2 Gene on Pain-Related Phenotypes in Japanese Women Who Underwent Laparoscopic Gynecologic Surgery.
Rie Inoue, Daisuke Nishizawa, Shoko Okahara, Atsuko Hara, Hisako Okada

Neuropsychopharmacol Rep· March 2026

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[Molecular epidemiological characteristics of human coronavirus NL63 in Shanghai City from 2019 to 2024].
H R Wang, J J Liu, F Yuan, J Y Zhang, W J Zhang

Zhonghua Yu Fang Yi Xue Za Zhi· December 2025

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[Analysis of genetic evolution and mutation patterns of HIV-1 drug-resistant strains in Changzhou City from 2019 to 2023].
J Y Jiang, F M Wang, J T Wang, J Xu, S Zhen

Zhonghua Yu Fang Yi Xue Za Zhi· December 2025

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[Study on the genetic correlation between polyunsaturated fatty acids and knee osteoarthritis].
J Y Zhou, X Y Zhao, X Wu, X Jiang, J Xu

Zhonghua Liu Xing Bing Xue Za Zhi· December 2025

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[Clinicopathological and genetic features of thyroid tumors with PTEN mutations].
Y W Zhao, H Q Li, J G Wang, D J Hu, J Chen

Zhonghua Yi Xue Za Zhi· December 2025

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[Follicular thyroid carcinoma combined with anaplastic thyroid carcinoma: a report of two cases].
Q Zhang, M Yang, Y L Wang

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi· December 2025

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Suboptimal codon pairs trigger ribosome collisions and cellular quality control responses in tRNA modification mutants.
Jie Wu, Cristian Eggers, Olga Sin, Łukasz Koziej, Hector Mancilla

Nucleic Acids Res· November 2025

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Genetic links between periodontal disease and circulating leptin and resistin: A Mendelian randomization study.
Yanan Jing, Junfei Zhu

J Int Med Res· December 2025

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Associations of genetic polymorphisms with boldness, stress response, and route efficiency in homing pigeons (Columba livia).
Sherif I Ramadan, Tin Hang Hung, Mathilde Delacoux, Fumihiro Kano, Miho Inoue-Murayama

Physiol Behav· December 2025

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Small-molecule inhibition of γ-glutamyl carboxylase reveals a novel anticoagulant strategy.
Guomin Shen, Dan Song, Shixin Li, Xuejie Chen, Catherine E Richter

Blood Adv· December 2025

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A Common Ancestry-Specific Sodium Channel Variant Increases Susceptibility to Drug-Induced QTc Prolongation: Evidence From a Large Biobank.
Russell Stewart, Brandon D Lowery, Eric Farber-Eger, Yuko Wada, Dan M Roden

Circulation· December 2025

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DNA extrusion size determines pathway choice during CAG repeat expansion.
Mayuri Bhatia, Ashutosh S Phadte, Anna Lakhina, Anthony R Monte Carlo Iii, Sarah Barndt

Nucleic Acids Res· November 2025

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