Works matching DE "GENES"

Results: 5000

Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03800-6

By:

Zhang, Chuan;
Yan, Yousheng;
Zhou, Bingbo;
Gao, Huimin;
Jin, Xiaohua;
Hui, Ling;
Hao, Shengju;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03637-z

By:

Kehrer, Christiane;
Bevot, Andrea;
Martin, Pascal;
Raabe, Christa;
Gregor, Saskia;
Krägeloh-Mann, Ingeborg;
Groeschel, Samuel

Publication type:

Article

ABCB1, SLC22A1, COMT, and OPRM1 genotypes: Study of their influence on plasma methadone levels and clinical response to methadone maintenance treatment in opioid use disorder.

Published in:

Fundamental & Clinical Pharmacology, 2025, v. 39, n. 3, p. 1, doi. 10.1111/fcp.70013

By:

Ait Tayeb, Abd El Kader;
Laforgue, Edouard‐Jules;
Schreck, Benoit;
Grall‐Bronnec, Marie;
Hardouin, Jean‐Benoit;
Leboucher, Juliette;
Victorri‐Vigneau, Caroline;
Verstuyft, Céline

Publication type:

Article

Exploring shared clinical features and successful therapeutic interventions in CARD14‐associated papulosquamous eruption.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2025, v. 39, n. 6, p. e485, doi. 10.1111/jdv.20420

By:

Rossel, S. Vanya J.;
Reich, Adam;
Baniel, Avital;
Wertheim‐Tysarowska, Katarzyna;
Frommherz, Leonie H.;
Nolberczak, Daniel;
Lesiak, Aleksandra;
Kwiek, Bartlomiej;
Osipowicz, Katarzyna;
Bekkenk, Marcel W.;
Spruijt, Liesbeth;
Seyger, Marieke M. B.;
Kołt‐Kamińska, Marta;
Giehl, Kathrin;
Nartbutt, Joanna;
Vreeburg, Maaike;
Steijlen, Peter M.;
Sprecher, Eli;
van Geel, Michel;
Gostyński, Antoni H.

Publication type:

Article

Genetic association of maternal smoking around birth with psoriasis: A two‐sample Mendelian randomization analysis.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2025, v. 39, n. 6, p. e493, doi. 10.1111/jdv.20410

By:

Diaz, Michael J.;
Tran, Jasmine T.;
Forouzandeh, Mahtab;
Grant‐Kels, Jane M.;
Lipner, Shari R.;
Montanez‐Wiscovich, Marjorie E.

Publication type:

Article

Actualización sobre las bases genéticas y perspectivas terapéuticas en la Agammaglobulinemia ligada al X.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2024, v. 28, n. 1, p. 1

By:

Israel Hernández-Pacheco, Julio;
Alberto Lorenzo-Rodriguez, Michel

Publication type:

Article

Pea seed-borne mosaic virus pathotypes isolated from Australian pea (Pisum sativum) seed.

Published in:

Phytopathologia Mediterranea, 2025, v. 64, n. 1, p. 71, doi. 10.36253/phyto-15934

By:

VAN LEUR, JOOP;
AFTAB, MOHAMMAD;
FREEMAN, ANGELA

Publication type:

Article

Identification of Natural Killer Cell‐Related Genes as Potential Diagnostic Biomarkers for Pediatric Sepsis.

Published in:

APMIS, 2025, v. 133, n. 5, p. 1, doi. 10.1111/apm.70030

By:

Liu, Zhihong;
Su, Minghua;
Wan, Peiqi;
Zhen, Xiumei;
He, Lixia;
Liang, Huan

Publication type:

Article

The first report of antibiotic resistance and virulence factor profiles in multidrug-resistant clinical isolates of Klebsiella pneumoniae from Pontianak, Indonesia.

Published in:

Osong Public Health & Research Perspectives, 2025, v. 16, n. 2, p. 160, doi. 10.24171/j.phrp.2024.0242

By:

Mardhia, Mardhia;
Liana, Delima Fajar;
Mahyarudin, Mahyarudin;
Ih, Hariyanto

Publication type:

Article

Genome sequence of the wild species, Spinacia tetrandra, including a phased sequence of the extensive sex‐linked region, revealing partial degeneration in evolutionary strata with unusual properties.

Published in:

New Phytologist, 2025, v. 246, n. 6, p. 2765, doi. 10.1111/nph.70165

By:

She, Hongbing;
Liu, Zhiyuan;
Xu, Zhaosheng;
Zhang, Helong;
Wu, Jian;
Wang, Xiaowu;
Cheng, Feng;
Charlesworth, Deborah;
Qian, Wei

Publication type:

Article

Bring back the phenotype.

Published in:

New Phytologist, 2025, v. 246, n. 6, p. 2440, doi. 10.1111/nph.70138

By:

Marín, César;
Wade, Michael J.

Publication type:

Article

Oral Presentations: Functional tests as a means to elucidate the role of variants in hearing loss genes -- minigene assay in verification of pathogenicity.

Published in:

Journal of Hearing Science, 2025, v. 15, n. 1, p. 108

By:

Gan, N.;
Leja, M. L.;
Ozieblo, D.;
Baldyga, N.;
Skarzynski, H.;
Oldak, M.

Publication type:

Article

METTL16 accelerates lung adenocarcinoma progression by inducing N6-methyladenosine modification of GTSE1 to regulate p53 pathway and cell cycle.

Published in:

Cell Division, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13008-025-00156-y

By:

Liu, Fang;
Jin, Sheng

Publication type:

Article

Paediatrics and genetics.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 5, p. 1057, doi. 10.1093/ced/llaf006

By:

Boyle, Aoife;
Moloney, Fergal J

Publication type:

Article

Mendelian randomization analysis reveals the potential of the IKZF1 gene as a therapeutic target in colorectal cancer.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02683-0

By:

Lin, Junzuo;
Xu, Qian;
Zhao, Zhengfei

Publication type:

Article

Study on the molecular mechanism of UBA52 and BARD1 regulating hepatocellular carcinoma through the PI3 K/AKT signaling pathway.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02600-5

By:

Yang, Chenrui;
Zhang, Yanzhong;
Liu, Yajuan;
Wu, Xiaoyong;
Sun, Fangyuan

Publication type:

Article

Effect of Brief Maternal Exposure to Bisphenol A on the Fetal Female Germline in a Mouse Model.

Published in:

Environmental Health Perspectives, 2025, v. 133, n. 3, p. 047002-1, doi. 10.1289/EHP15046

By:

Vrooman, Lisa A.;
Gieske, Mary C.;
Lawson, Crystal;
Cesare, Joseph;
Shuo Zhang;
Bartolomei, Marisa S.;
Garcia, Benjamin A.;
Hassold, Terry J.;
Hunt, Patricia A.

Publication type:

Article

Fine Particulate Matter (PM<sub>2.5</sub>) and the Blood-Testis Barrier: An in Vivo and in Vitro Mechanistic Study.

Published in:

Environmental Health Perspectives, 2025, v. 133, n. 3, p. 047006-1, doi. 10.1289/EHP14447

By:

Shaokai Zheng;
Nannan Zhao;
Xiaojun Lin;
Lianlian Jiang;
Chong Qiu;
Jinchen Jiang;
Zhenhao Shu;
Yingyun Qian;
Bo Liang;
Lianglin Qiu

Publication type:

Article

Transcriptomic analysis identifies muscle-specific mitochondrial and vesicular transport genes as methylmercury toxicity targets in a Drosophila model of congenital Minamata disease.

Published in:

Toxicological Sciences, 2025, v. 205, n. 1, p. 106, doi. 10.1093/toxsci/kfaf018

By:

Beamish, Catherine R;
Becker, Jennifer;
Tam, Lok Ming;
Love, Tanzy;
Rand, Matthew D

Publication type:

Article

Metabolic Reconstruction of Pichia pastoris for β-Carotene Biosynthesis.

Published in:

Modern Food Science & Technology, 2025, v. 41, n. 4, p. 141, doi. 10.13982/j.mfst.1673-9078.2025.4.0476

By:

LI Yanru;
ZHANG Xinying;
LIANG Shuli

Publication type:

Article

Say It with Presentations.

Published in:

Lingua (Language & Culture), 2024, v. 23, n. 2, p. 130

By:

Balaban, Maria-Zoica Eugenia

Publication type:

Article

Matrix Remodeling Associated Genes (MXRAs): structural diversity, functional significance, and therapeutic potential in tumor microenvironments.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02728-4

By:

Zeng, Chao;
Lv, Xiao;
Wang, Feng;
Huang, Yaomin;
Ren, Yanxian;
Zhang, Hengwei

Publication type:

Article

Mendelian randomization analysis reveals the potential of the IKZF1 gene as a therapeutic target in colorectal cancer.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02683-0

By:

Lin, Junzuo;
Xu, Qian;
Zhao, Zhengfei

Publication type:

Article

Interaction between Dectin-1 gene polymorphisms and low weight on the risk of invasive pulmonary aspergillosis in patients with lung cancer undergoing surgery.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02577-1

By:

Jin, Wenfang;
Yao, Yu;
Lv, Yanling

Publication type:

Article

Publisher Correction: Role of functional genes for seed vigor related traits through genome-wide association mapping in finger millet (Eleusine coracana L. Gaertn.).

Published in:

2025

By:

Kannababu, Netyam;
Nanjundappa, Sandeep;
Narayanan, Neha;
Vetriventhan, Mani;
Venkateswarlu, Ronda;
Das, Indra Kanta;
Srikanth, Arutla;
Viswanath, Aswini;
Singh, Swati;
Malipatil, Renuka;
Satyavathi, Tara C.;
Thirunavukkarasu, Nepolean

Publication type:

Correction Notice

The role of FAM111B in the malignant progression and molecular regulation of human glioma through the PI3K/Akt pathway.

Published in:

Chinese Neurosurgical Journal, 2025, v. 11, n. 1, p. 1, doi. 10.1186/s41016-025-00395-6

By:

Wang, Heng;
Zhu, Junrou;
Wang, Haiyang;
Zheng, Wenhao;
Wang, Linjie;
Zhu, Jinhao;
Wang, Zheng;
Du, Quan

Publication type:

Article

Genetic influence of the brain imaging phenotypes, brain and cerebrospinal fluid metabolites and brain genes on migraine subtypes: a Mendelian randomization and multi-omics study.

Published in:

Journal of Headache & Pain, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s10194-025-02063-7

By:

Zhang, Ping-An;
Wang, Jie-Lin;
Dong, Mei-Hua;
Huang, Xiang-Chun;
Li, Nai-Jian;
Qin, Run-Dong;
Li, Jing

Publication type:

Article

A pan-crop metagenomic exploration of microbial communities linked to pesticide and xenobiotic degradation pathways in agricultural microbiomes.

Published in:

Discover Agriculture, 2025, v. 3, n. 1, p. 1, doi. 10.1007/s44279-025-00237-0

By:

Prabha, Ratna;
Samota, Mahesh K.;
Verma, M. K.;
Gupta, Shailendra;
Rai, Anil;
Dubey, S. C.;
Singh, D. P.

Publication type:

Article

Cystic Fibrosis and Abnormal Lung Function.

Published in:

RT: The Journal for Respiratory Care Practitioners, 2025, v. 38, n. 2, p. 6

By:

PRUITT, BILL

Publication type:

Article

Identification of ECI2 as Potential Prognostic Biomarkers Based on a Fatty Acid Metabolism‐Related Gene Model in Clear Cell Renal Cell Carcinoma.

Published in:

Genetics Research, 2025, v. 2025, p. 1, doi. 10.1155/genr/2237539

By:

Cui, Di;
Yang, Wenye;
Guan, Bo;
Wu, Wenxu;
Yu, Wenjiang;
Sun, Yaying

Publication type:

Article

Upregulated Expression of SHMT2 Predicts Poor Survival of Lung Adenocarcinoma.

Published in:

Genetics Research, 2025, v. 2025, p. 1, doi. 10.1155/genr/6104753

By:

Guo, Qi;
Huang, Guang-Hong;
Chen, Pu;
Guo, Chao;
Liu, Hongda

Publication type:

Article

Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00312-4

By:

Tanaka, Satoshi;
Akagawa, Hiroyuki;
Hase, Michiyo;
Iwasaki, Naoko

Publication type:

Article

Chromosome-level draft genome assembly of Hypomesus nipponensis reveals transposable element expansion reshaping the genome structure.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1502681

By:

Zhu, Chenzhao;
Kuang, Youyi;
Li, Zhe;
Tang, Fujiang

Publication type:

Article

Alpelisib in pediatric PIK3CA- and TIE-2–mutant vascular anomalies: a case series on safety, efficacy, and drug exposure.

Published in:

Pediatric Hematology & Oncology, 2025, v. 42, n. 4, p. 228, doi. 10.1080/08880018.2025.2498660

By:

Etingin, Albert;
Remy, Amandine;
Sonea, Thomas;
Fortin, Francis;
Dubois, Josée;
Essouri, Sandrine;
Ondrejchak, Sandra;
Lapointe, Chantal;
Théôret, Yves;
Denoncourt, Audrey;
Garcia-Bournissen, Facundo;
Ducruet, Thierry;
Coulombe, Jérôme;
Powell, Julie;
Tran, Thai Hoa;
Kleiber, Niina

Publication type:

Article

Identification and verification of a polyamine metabolism-related gene signature for predicting prognosis and immune infiltration in osteosarcoma.

Published in:

Journal of Orthopaedic Surgery & Research, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13018-025-05716-0

By:

Qiu, Shuo;
Tan, Chen;
Cheng, Dongdong;
Yang, Qingcheng

Publication type:

Article

Inhibition of DLK1 regulates AT2 differentiation and alleviates established pulmonary fibrosis by upregulating TTF-1/CLDN6.

Published in:

Respiratory Research, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12931-025-03264-z

By:

Li, Yinzhen;
Zhou, Chen;
Sun, Jiaxing;
Wang, Enhao;
Wang, Chunmei;
Liu, Xuan;
Zhou, Xiaohui;
Bai, Jianwen

Publication type:

Article

Causal relationships between four types of lipids and breast cancer risk with potential mediators: evidence from Mendelian randomization study and bioinformatics analysis.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02597-x

By:

Li, Xu-Chu;
Wang, Bangqi;
Tang, Yu

Publication type:

Article

构建基于染色质重塑相关基因的皮肤黑色素瘤预后预测模型.

Published in:

Practical Oncology Journal, 2025, v. 39, n. 2, p. 134, doi. 10.11904/j.issn.1002-3070.2025.02.009

By:

李勇;
刘冰梅

Publication type:

Article

Managing Late-Onset ERF-Related Craniosynostosis With Cranial Vault Distraction Osteogenesis.

Published in:

FACE (2732-5016), 2025, v. 6, n. 2, p. 259, doi. 10.1177/27325016241313390

By:

Ferry, Andrew M.;
Marx-Albuquerque, Leandro;
Burch, Samantha J.;
Meza-Rochin, Ana;
Balumuka, Darius;
Howell, Lori K.;
Selden, Nathan R.;
Wolfswinkel, Erik M.

Publication type:

Article

PSMD14 Transcriptionally Activated by MEF2A Promotes Pancreatic Cancer Development by Upregulating SPON2 Expression.

Published in:

Kaohsiung Journal of Medical Sciences, 2025, v. 41, n. 5, p. 1, doi. 10.1002/kjm2.70007

By:

Hao, Yun‐He;
Yang, Cheng‐Ru;
Shi, Wu‐Jiang;
Zhong, Xiang‐Yu

Publication type:

Article

Novel Mutations in SUPT5H Gene Associated With Beta‐Thalassemia Phenotype.

Published in:

2025

By:

Agarwal, Archana M.;
Rets, Anton;
Mani, Coumarane

Publication type:

Letter to the Editor

Exploring potential diagnostic markers and therapeutic targets for type 2 diabetes mellitus with major depressive disorder through bioinformatics and in vivo experiments.

Published in:

Discover Mechanical Engineering, 2025, v. 4, n. 1, p. 1, doi. 10.1038/s41598-025-01175-z

By:

Zhang, Yikai;
Wu, Linyue;
Zheng, Chuanjie;
Xu, Huihui;
Lin, Weiye;
Chen, Zheng;
Cao, Lingyong;
Qu, Yiqian

Publication type:

Article

GeOKG: geometry-aware knowledge graph embedding for Gene Ontology and genes Open Access.

Published in:

Bioinformatics, 2025, v. 41, n. 4, p. 1, doi. 10.1093/bioinformatics/btaf160

By:

Jeong, Chang-Uk;
Kim, Jaesik;
Kim, Dokyoon;
Sohn, Kyung-Ah

Publication type:

Article

Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling Open Access.

Published in:

Bioinformatics, 2025, v. 41, n. 4, p. 1, doi. 10.1093/bioinformatics/btaf136

By:

Saunders, Christopher T;
Holt, James M;
Baker, Daniel N;
Lake, Juniper A;
Belyeu, Jonathan R;
Kronenberg, Zev;
Rowell, William J;
Eberle, Michael A

Publication type:

Article

AlertGS: determining alerts for gene sets Open Access.

Published in:

Bioinformatics, 2025, v. 41, n. 4, p. 1, doi. 10.1093/bioinformatics/btaf133

By:

Kappenberg, Franziska;
Rahnenführer, Jörg

Publication type:

Article

DNA methylation signatures of cervical pre‐invasive and invasive disease: An epigenome‐wide association study.

Published in:

International Journal of Cancer, 2025, v. 157, n. 2, p. 305, doi. 10.1002/ijc.35406

By:

Bowden, Sarah J.;
Bodinier, Barbara;
Paraskevaidi, Maria;
Kalliala, Ilkka;
Nasioutziki, Maria;
Ellis, Laura Burney;
Zuehlke, Ruben Colindres;
Flanagan, James M.;
Kyrgiou, Maria;
Chadeau‐Hyam, Marc

Publication type:

Article

GENOME-WIDE ASSOCIATION STUDY IDENTIFIED QTLS FOR BEHAVIORAL TRAITS IN KOREAN SAPSAREE DOGS.

Published in:

JAPS: Journal of Animal & Plant Sciences, 2025, v. 35, n. 2, p. 546, doi. 10.36899/japs.2025.2.0045

By:

Haque, Md Azizul;
Kim, Na-Kuang;
Yeji, Ryu;
Lee, B.;
Ha, Ji-Hong;
Lee, Yun-Mi;
Il, Han-Kook;
Kim, Jong-Joo

Publication type:

Article

Predicting Human Essential Genes Using Deep Learning: MLP with Adaptive Data Balancing.

Published in:

International Journal of Advanced Computer Science & Applications, 2025, v. 16, n. 4, p. 314, doi. 10.14569/ijacsa.2025.0160433

By:

AbdElsalam, Ahmed;
Abdallah, Mohamed;
Refaat, Hossam

Publication type:

Article

MULTI-IMAGE HYBRID ENCRYPTION ALGORITHM BASED ON PIXEL SUBSTITUTION AND GENE THEORY.

Published in:

Fractals, 2023, v. 31, n. 6, p. 1, doi. 10.1142/S0218348X23401114

By:

GAO, XINYU;
MOU, JUN;
LI, BO;
BANERJEE, SANTO;
SUN, BO

Publication type:

Article

The bxd PRE from Bithorax Complex of Drosophila melanogaster Has Weak Insulator Activity.

Published in:

Doklady Biochemistry & Biophysics, 2025, v. 521, n. 1, p. 183, doi. 10.1134/S1607672924601513

By:

Ibragimov, A. N.;
Kyrchanova, O. V.;
Vorontsova, Y. E.;
Kozlov, E. N.;
Dubrovskaya, V. O.;
Georgiev, P. G.

Publication type:

Article