1,338,891 results match your criteria: "Genetic Variation"

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Detection of Streptococcus pyogenes M1 in Australia and characterization of the mutation driving enhanced expression of superantigen SpeA.
Mark R Davies, Nadia Keller, Stephan Brouwer, Magnus G Jespersen, Amanda J Cork

Nat Commun· February 2023

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Global landscape of SARS-CoV-2 mutations and conserved regions.
Mohammad Hadi Abbasian, Mohammadamin Mahmanzar, Karim Rahimian, Bahar Mahdavi, Samaneh Tokhanbigli

J Transl Med· February 2023

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Teaching NeuroImage: Intraventricular Fetus-in-Fetu With Extensive De Novo Gain in Genetic Copy Number.
Zongze Li, Li Ma, Yuanli Zhao, Chunde Li

February 2023

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Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens.
Vanja Karamatic Crew, Louise A Tilley, Timothy J Satchwell, Samah A AlSubhi, Benjamin Jones

Blood· January 2023

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DNA damage and somatic mutations in mammalian cells after irradiation with a nail polish dryer.
Maria Zhivagui, Areebah Hoda, Noelia Valenzuela, Yi-Yu Yeh, Jason Dai

January 2023

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Impact of the gut microbiota and associated metabolites on cardiometabolic traits, chronic diseases and human longevity: a Mendelian randomization study.
Eloi Gagnon, Patricia L Mitchell, Hasanga D Manikpurage, Erik Abner, Nele Taba

J Transl Med· January 2023

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Molecular pathology and clinical implications of diffuse glioma.
Ruichao Chai, Shengyu Fang, Bo Pang, Yuqing Liu, Yongzhi Wang

Chin Med J (Engl)· December 2022

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The missing link between genetic association and regulatory function.
Noah J Connally, Sumaiya Nazeen, Daniel Lee, Huwenbo Shi, John Stamatoyannopoulos

Elife· December 2022

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Calreticulin mutations affect its chaperone function and perturb the glycoproteome.
Patrick M Schürch, Liliana Malinovska, Mohammad Hleihil, Marco Losa, Mara C Hofstetter

Cell Rep· November 2022

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Unique molecular characteristics of NAFLD-associated liver cancer accentuate β-catenin/TNFRSF19-mediated immune evasion.
Alissa Michelle Wong, Xiaofan Ding, Aikha Melissa Wong, Mingjing Xu, Luyao Zhang

J Hepatol· August 2022

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A genetic probe into the ancient and medieval history of Southern Europe and West Asia.
Iosif Lazaridis, Songül Alpaslan-Roodenberg, Ayşe Acar, Ayşen Açıkkol, Anagnostis Agelarakis

Science· August 2022

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The molecular epidemiology of multiple zoonotic origins of SARS-CoV-2.
Jonathan E Pekar, Andrew Magee, Edyth Parker, Niema Moshiri, Katherine Izhikevich

August 2022

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Northeastern Asian and Jomon-related genetic structure in the Three Kingdoms period of Gimhae, Korea.
Pere Gelabert, Asta Blazyte, Yongjoon Chang, Daniel M Fernandes, Sungwon Jeon

Curr Biol· August 2022

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New hallmarks of ageing: a 2022 Copenhagen ageing meeting summary.
Tomas Schmauck-Medina, Adrian Molière, Sofie Lautrup, Jianying Zhang, Stefan Chlopicki

Aging (Albany NY)· August 2022

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Neo-Darwinism must Mutate to survive.
Olen R Brown, David A Hullender

August 2022

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A centimeter-long bacterium with DNA contained in metabolically active, membrane-bound organelles.
Jean-Marie Volland, Silvina Gonzalez-Rizzo, Olivier Gros, Tomáš Tyml, Natalia Ivanova

Science· June 2022

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Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking.
Zhenqiu Huang, Shixiang Sun, Moonsook Lee, Alexander Y Maslov, Miao Shi

Nat Genet· April 2022

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Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.
Aysu Okbay, Yeda Wu, Nancy Wang, Hariharan Jayashankar, Michael Bennett

Nat Genet· April 2022

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Omicron and Delta variant of SARS-CoV-2: A comparative computational study of spike protein.
Suresh Kumar, Thiviya S Thambiraja, Kalimuthu Karuppanan, Gunasekaran Subramaniam

J Med Virol· April 2022

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David A Mackey

April 2022

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Tracking SARS-CoV-2 Omicron diverse spike gene mutations identifies multiple inter-variant recombination events.
Junxian Ou, Wendong Lan, Xiaowei Wu, Tie Zhao, Biyan Duan

Signal Transduct Target Ther· April 2022

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De novo mutation rates at the single-mutation resolution in a human gene region associated with adaptation and genetic disease.
Daniel Melamed, Yuval Nov, Assaf Malik, Michael B Yakass, Evgeni Bolotin

Genome Res· March 2022

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A hotspot mutation targeting the R-RAS2 GTPase acts as a potent oncogenic driver in a wide spectrum of tumors.
Isabel Fernández-Pisonero, Laura Clavaín, Javier Robles-Valero, L Francisco Lorenzo-Martín, Rubén Caloto

Cell Rep· March 2022

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Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients.
S Georgin-Lavialle, B Terrier, A F Guedon, M Heiblig, T Comont

March 2022

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Accumulation of somatic mutations leads to genetic mosaicism in cannabis.
Kristian Adamek, Andrew Maxwell Phineas Jones, Davoud Torkamaneh

Plant Genome· March 2022

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Structural basis of SARS-CoV-2 Omicron immune evasion and receptor engagement.
Matthew McCallum, Nadine Czudnochowski, Laura E Rosen, Samantha K Zepeda, John E Bowen

Science· February 2022

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The genetics of obesity: from discovery to biology.
Ruth J F Loos, Giles S H Yeo

Nat Rev Genet· February 2022

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Targeting KRAS G12D: Advances in Inhibitor Design.
Kaiyin Shi, Amin Li

Thorac Cancer· December 2025

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Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissense.
Zhihui Wang, Xuna Shen, Chenyang Xu, Rongyue Wang, Chendi Teng

Mol Genet Genomic Med· December 2025

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QTL mapping for hundred-seed weight in soybean using high-density SLAF-seq technology.
Chunlei Zhang, Huilong Hong, Rongqiang Yuan, Kezhen Zhao, Bire Zha

BMC Plant Biol· December 2025

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Significant clinical and radiologic response to targeted therapy in pediatric cervicomedullary low-grade gliomas harboring the BRAFV600E mutation.
G Abebe Campino, S Shrot, S Constantini, J Roth, A Toren

Childs Nerv Syst· December 2025

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A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea.
Simone Aloisio, Martina De Riggi, Adriana Martini, Sofia Grandolfo, Daniele Birreci

Neurol Sci· December 2025

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Identification of TaqW-6AS, a novel gene controlling WE-AX content in wheat grain.
Qiong Li, Zhankui Zeng, Yue Zhao, Junge Bi, Lei Dong

Theor Appl Genet· December 2025

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CSF3R Mutations Imply Adverse Prognostic Impact in Adult Acute Myeloid Leukemia Patients: A Single-Center Retrospective Study.
Jinjun Yang, Lian Wang, Min Zhu, Xinrong Xiang, Yu Wu

Cancer Med· December 2025

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Rare Coexistence of Hemoglobin D-Iran and Hemoglobin S in a Case from Central India.
Priya Rani, Amol Moon, Umesh Dhumne, Naga Muralidhar Merugu, Swapnil Chandekar

Hemoglobin· November 2025

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Nonsense Variant in the β-Spectrin Gene Causing Hereditary Spherocytosis Identified by Whole-Exome Sequencing in a Child.
Ai- Yang, Ti-Long Huang, Chun-Yan Song, Zu-Gang Xiao, Yun-Bi Lin

Hemoglobin· November 2025

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Genetic evaluation and clinical management of subsequent pregnancies based on previous adverse obstetric history.
Jie Liang, Yu Han, Lin Zhang, Yunmeng Qi, Jiebin Wu

J Matern Fetal Neonatal Med· December 2026

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"Fertile" Mutations in SARS-CoV-2 RNA More Frequently Occurred in Hairpin Loops That Determine Virus Evolution.
Philippe Colson, Pierre Pontarotti, Jacques Fantini, Anthony Levasseur, Christian Devaux

APMIS· December 2025

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Neonatal severe hypertriglyceridaemia: A novel lipoprotein lipase gene splicing variant.
P Anil Kumar, Hari Prasath C

BMJ Case Rep· December 2025

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Cell-type-specific genetic architecture of postpartum depression: A single-cell Mendelian randomization framework for causal gene discovery.
Ya-Jing Huang, Qiu-Han Xu, Ke-Wei Chen, Huai-Fang Li, Yang Yang

J Affect Disord· December 2025

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Extracellular vesicle microRNAs as an epigenetic biosignature of arsenic-associated diabetes in the Strong Heart Study.
Christian K Dye, Allison Kupsco, Gabriela L Jackson, Ronald A Glabonjat, Abbas Hakim

Environ Res· December 2025

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Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.
Moslem Hoseinbeyki, Shirin Moradifard, Fatemeh Mirkhani, Fatemeh Sadat Shariati, Parastoo Ehsani

Iran Biomed J· November 2025

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The association between APOA1 (rs5069) gene polymorphism and insulin resistance surrogates and metabolic indices among obese individuals with different glycemic statuses (euglycemic and T2DM).
Nagla Usama, Amr E Ahmed, Salma Mekheimer, Khaled Elhadidy, Mahmoud Farid

Sci Rep· December 2025

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Epigenetics of glaucoma in the trabecular meshwork.
Zhihao Liu, Yajuan Zheng, Jing Zhao

Clin Epigenetics· December 2025

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Chromosomal variations and evolution in Arachis species revealed by single-copy FISH karyotyping.
Guoquan Chen, Qian Wang, Haojie Sun, Liuyang Fu, Xiaobo Wang

Theor Appl Genet· December 2025

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Genome-wide variation reveal that goats were introduced into Asia via multiple migrations.
Takahiro Yonezawa, Jiaqi Wu, Ryo Masuko, Kenta Iso, Yuto Nomura

Sci Rep· December 2025

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Kinetochore mutations and histone phosphorylation pattern changes accompany holo- and macro-monocentromere evolution.
Yi-Tzu Kuo, Pavel Neumann, Jianyong Chen, Jörg Fuchs, Veit Schubert

Nat Commun· December 2025

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Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability.
Ben Lundie, Sze Yee Chai, Alicia B Byrne, Dimitar Azmanov, John Christodoulou

J Mol Diagn· December 2025

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Allele, Diplotype and Phenotype Frequency Distribution of CYP2B6, CYP2C19 and CYP2D6 in Han Population in North China.
Yueyao Luan, Qixuan Sun, Yiyuan Wang, Binliang Tong, Liguang Duan

J Mol Diagn· December 2025

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Integrative multi-omics reveals microbial genomic variants driving altered host-microbe interactions in autism spectrum disorder.
Wanning Chen, Xinjun Wang, Ruixin Zhu, Wenxing Gao, Liwen Tao

Cell Rep Med· December 2025

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miRNA modules for precise, tunable control of gene expression.
Rongrong Du, Michael J Flynn, Karan Mahe, Monique Honsa, Bo Gu

Mol Cell· December 2025

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Detection and mapping of gm13, a QTL governing recessive resistance to rice gall midge.
Fugang Huang, Chunlan Teng, Huayu Huang, Haiyan Cheng, Guihua Zhou

J Plant Physiol· December 2025

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Characterization of gut microbiomes in rural Honduras reveals uncharacterized species and associations with human genetic variation.
Francesco Beghini, Ilana L Brito, Mark Gerstein, Nicholas A Christakis

Cell Rep· December 2025

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Genetic diversity and haplotype distribution of ticks across Europe, including new data from the Baltic States region.
Algimantas Paulauskas, Matas Galdikas, Asta Aleksandravičienė, Loreta Griciuvienė, Dalytė Mardosaitė-Busaitienė

J Vector Ecol· December 2025

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