Works matching DE "SEQUENCE analysis"

Results: 5000

A Novel Glucokinase Mutation Causing Maturity-onset Diabetes of the Young: A Case Report.

Published in:

British Journal of Hospital Medicine (17508460), 2025, v. 86, n. 6, p. 1, doi. 10.12968/hmed.2024.1056

By:

Nie, Dongying;
Lou, Xueyong

Publication type:

Article

Exposure to Long- and Short-Chain Per- and Polyfluoroalkyl Substances in Mice and Ovarian-Related Outcomes: An in Vivo and in Vitro Study.

Published in:

Environmental Health Perspectives, 2025, v. 133, n. 5, p. 057024-1, doi. 10.1289/EHP14876

By:

Pattarawat, Pawat;
Tingjie Zhan;
Yihan Fan;
Jiyang Zhang;
Yang, Hilly;
Ying Zhang;
Moyd, Sarahna;
Douglas, Nataki C.;
Urbanek, Margrit;
Buckley, Brian;
Burdette, Joanna;
Qiang Zhang;
Ji-Yong Julie Kim;
Shuo Xiao

Publication type:

Article

Bisphenol S Exposure and MASLD: A Mechanistic Study in Mice.

Published in:

Environmental Health Perspectives, 2025, v. 133, n. 5, p. 057009-1, doi. 10.1289/EHP17057

By:

Shiqi Li;
Yun Fan;
Min Tang;
Xiaorong Wu;
Shengjun Bai;
Xiancheng Yang;
Xueer Zhang;
Chuncheng Lu;
Chenbo Ji;
Wade, Paul A.;
Xu Wang;
Wei Gu;
Guizhen Du;
Yufeng Qin

Publication type:

Article

Recurrent oral ulcer on a man's tongue.

Published in:

Oral Diseases, 2025, v. 31, n. 3, p. 715, doi. 10.1111/odi.15138

By:

Wu, Shuangshuang;
Zhang, Jianyun;
Yan, Zhimin

Publication type:

Article

Prognostic impact of caspase‐8 mutation in oral cavity squamous cell carcinoma.

Published in:

Oral Diseases, 2025, v. 31, n. 3, p. 769, doi. 10.1111/odi.15124

By:

Lu, Hsueh‐Ju;
Su, Chun‐Wen;
Su, Shih‐Chi;
Chang, Lun‐Ching;
Wu, Ming‐Fang;
Lin, Chiao‐Wen;
Yang, Shun‐Fa

Publication type:

Article

A Modified Ligature‐Induced Peri‐Implantitis Murine Model and RNA Sequencing Analysis Compared With Human Subjects.

Published in:

Journal of Clinical Periodontology, 2025, v. 52, n. 5, p. 787, doi. 10.1111/jcpe.14127

By:

Tong, Zi‐an;
Chen, Long;
Shen, Ling;
Lu, Yi‐fan;
Zhang, Jian‐wei;
Qi, Ya‐dong;
Qian, Yin‐jie;
Bao, Si‐qi;
Chen, Wei;
Si, Mi‐si

Publication type:

Article

Isovist 视域分析下传统街巷核心地段 “日常”空间感知与特征研究: ————以广州多宝路历史文化街区为例.

Published in:

Urbanism & Architecture / Chengshi Jianzhu, 2025, v. 22, n. 492, p. 70, doi. 10.19892/j.cnki.csjz.2025.07.17

By:

饶潇;
黄健文;
高子扬

Publication type:

Article

"Do you have a pen?" "Yes.": A cross-cultural and interlanguage analysis of pre-request sequences in Spanish and Chinese.

Published in:

Spanish Journal of Applied Linguistics / Revista Española de Lingüística Aplicada (John Benjamins Publishing Co.), 2025, v. 38, n. 2, p. 510, doi. 10.1075/resla.23004.wan

By:

Wang, Yixin

Publication type:

Article

Career trajectories in retail and wholesale –turnover, retention, and labor status.

Published in:

International Review of Retail, Distribution & Consumer Research, 2025, v. 35, n. 3, p. 334, doi. 10.1080/09593969.2024.2411201

By:

Backman, Mikaela;
Nilsson, Helena;
Öner, Özge

Publication type:

Article

Molecular Diagnosis of Thyroid Nodules Using Next‐Generation Sequencing in the Chinese Population.

Published in:

International Journal of Endocrinology, 2025, v. 2025, p. 1, doi. 10.1155/ije/7728360

By:

Chen, Hui;
Liu, Wei;
Chen, Yan;
Jiang, Zhengzeng;
Ren, Yuanyuan;
Wu, Jiajia;
Liu, Rui;
Zhu, Min;
Zhang, Hongfeng;
Ji, Yuan;
Saleem, Suraiya

Publication type:

Article

Clinical, diagnostic, and therapeutic aspects of Kallmann syndrome with an FGFR1 gene variant in a female adolescent.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2025, v. 100, n. 1, p. 105, doi. 10.5114/polp.2025.148232

By:

Matusiak, Karina;
Walewska-Wolf, Małgorzata

Publication type:

Article

Hyperandrogenism as a clinical manifestation of familial partial lipodystrophy type 2 in an adolescent female patient.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2025, v. 100, n. 1, p. 97, doi. 10.5114/polp.2025.148646

By:

Błaszczyk, Ewa;
Tobolska-Lorek, Dominika;
Januszek-Trzciąkowska, Aleksandra;
Karbowska, Dorota;
Gawlik-Starzyk, Aneta

Publication type:

Article

Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2025, v. 100, n. 1, p. 86, doi. 10.5114/polp.2025.149052

By:

Ręka, Gabriela;
Górecki, Mateusz;
Wojciechowska, Katarzyna;
Lejman, Monika

Publication type:

Article

A hypothesis-free approach to identifying potential effects of relative age in school year: an instrumental variable phenome-wide association study in the UK Biobank Open Access.

Published in:

American Journal of Epidemiology, 2025, v. 194, n. 6, p. 1673, doi. 10.1093/aje/kwae331

By:

Lange, Melanie A de;
Davies, Neil M;
Millard, Louise A C;
Tilling, Kate

Publication type:

Article

Factor XIII Polymorphism and Risk of Coagulation Factor XIII A Subunit Deficiency: Evaluation of Risks.

Published in:

International Tinnitus Journal, 2024, p. 108, doi. 10.5935/0946-5448.2024.S1.18

By:

Ahmed, Namariq Aamer;
Saud, Asmaa Mohammed

Publication type:

Article

Safety assessment of autochthonous starter cultures Latilactobacillus sakei subsp. sakei LM0405 and Lactiplantibacillus plantarum LM0705 and their effects on microbial profile and biogenic amine accumulation in lap xuong fermented sausage.

Published in:

Biologia, 2025, v. 80, n. 7, p. 1881, doi. 10.1007/s11756-025-01950-3

By:

Hoang, Lan Anh Thi;
Nguyen, Ha Viet;
Le, Hue Thi Thanh;
Trinh, Trung Thanh

Publication type:

Article

Isolation, Identification and Phylogeny of Actinobacteria from Island Soils Using Different Isolation Methods.

Published in:

Gazi University Journal of Science, 2025, v. 38, n. 2, p. 576, doi. 10.35378/gujs.1568577

By:

TOPKARA, Ahmet Ridvan;
SARICAOGLU, Salih;
ISIK, Kamil

Publication type:

Article

Characterization of large transgene integrations in Chinese hamster ovary cells using a bioengineered mammalian transposase.

Published in:

Biotechnology Progress, 2025, v. 41, n. 3, p. 1, doi. 10.1002/btpr.3524

By:

Marx, Nicolas;
Otte, Anna‐Maria;
Leitner, Klaus;
Sitepu, Rehmadanta;
Berger, Thomas;
Schäpertöns, Veronika;
Huber, Christian G.;
Zhu, Quan;
Nema, Sandeep;
Higgins, Joseph J.;
Borth, Nicole

Publication type:

Article

GENETIC CHARACTERIZATION OF Corynebacterium pseudotuberculosis ISOLATES IN EGYPT.

Published in:

Journal of Applied Veterinary Sciences, 2021, v. 6, n. 2, p. 15, doi. 10.21608/javs.2021.154576

By:

El-Sebay, Nadine A.;
Mohamed, Marwah M.;
El-Sergany, Elham F.;
Abbas, Ashraf M.;
Osman, Roukaya M.;
Abd El-Moaty, Dalia A. M.

Publication type:

Article

Application of Artificial Intelligence in Genome Sequence Analysis of COVID-19 and Similar Viruses.

Published in:

International Review of Automatic Control, 2025, v. 18, n. 1, p. 23, doi. 10.15866/ireaco.v18i1.25339

By:

Yaakoubi, Ouafa;
El Fatmi, Abdelhakim;
Hasnaoui, My Lahcen

Publication type:

Article

Degradation Characteristics of Diesel by Petroleum Hydrocarbon-degrading Bacterium Delftia tsuruhatensis LD1.

Published in:

Environmental Science & Technology (10036504), 2025, v. 48, n. 5, p. 80, doi. 10.19672/j.cnki.1003-6504.2218.24.338

By:

LUO Qiuyu;
LIANG Yan;
JIANG Erxiao;
WU Jingyan

Publication type:

Article

Deciphering the relationship between sarcopenia and aging: A combined text mining and bioinformatics approach.

Published in:

Geriatrics & Gerontology International, 2025, v. 25, n. 6, p. 806, doi. 10.1111/ggi.70042

By:

Kamihara, Takahiro;
Omura, Takuya;
Shimizu, Atsuya

Publication type:

Article

Una aproximación al análisis del humor verbal en interacciones publicitarias en la red social Instagram.

Published in:

Culture, Language & Representation / Cultura, Lenguaje y Representación, 2025, v. 36, p. 153, doi. 10.6035/clr.8328

By:

MANCERA RUEDA, ANA

Publication type:

Article

EPIPDLF: a pretrained deep learning framework for predicting enhancer–promoter interactions Open Access.

Published in:

Bioinformatics, 2025, v. 41, n. 5, p. 1, doi. 10.1093/bioinformatics/btae716

By:

Xiao, Zhichao;
Li, Yan;
Ding, Yijie;
Yu, Liang

Publication type:

Article

Brief communication: characteristics of primary drug resistance in newly diagnosed HIV-infected individuals in Ganzhou, China.

Published in:

AIDS Research & Therapy, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12981-025-00758-0

By:

Huang, Dan-Dan;
Liu, Jun-Jie;
Chen, Ya-Ting;
Yang, Rong-Rong;
Su, Jun-Zhi;
Gao, Qian;
Chen, Xin

Publication type:

Article

A bioinformatic method to predict the 5′ ends of primer sequences in multiple STR kits.

Published in:

International Journal of Legal Medicine, 2025, v. 139, n. 4, p. 1465, doi. 10.1007/s00414-025-03444-y

By:

Kutsuwada, Yukinobu;
Matsuda, Takumi;
Satoh, Tetsuya;
Sakurada, Koichi

Publication type:

Article

Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.

Published in:

2025

By:

Gowda, Vykuntaraju K;
Srinivasan, Varunvenkat M;
Krishnanada, Vikas;
Sathyakumar, Rima;
Mahadevan, Anita

Publication type:

Letter

Novel Variant in C19orf12 Gene Causing Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) – Case Report and a Brief Review of Indian Literature on MPAN.

Published in:

2025

By:

Saibaba, Jayaram;
Sibi, Sandeep;
Amalnath, Deepak;
Subrahmanyam, Dharanipragada Krishna Suri

Publication type:

Letter

Genetic Profiling of Polymicrogyria in a South Indian Cohort.

Published in:

Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 422, doi. 10.4103/aian.aian_1096_24

By:

Iype, Mary;
James, Jesmy;
Surendran, Mithran O;
Anitha, Ayyappan

Publication type:

Article

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.

Published in:

Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 353, doi. 10.4103/aian.aian_1068_24

By:

Özdemir, Taha Reşid;
Gençpınar, Pınar;
Sarıteke, Roza;
Dagdas, Safa M;
Haspolat, Senay;
Tiftikcioglu, Bedile I;
Dündar, Nihal Olgaç;
Özyılmaz, Berk

Publication type:

Article

Eno1 in sepsis-induced coagulopathy: a pleiotropic mechanism hypothesis involving immunomodulation and endothelial dysfunction.

Published in:

Thrombosis Journal, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12959-025-00750-8

By:

Qin, Ke;
Chen, Xiao;
Li, Xiaoling;
Zhang, Wenbin;
Song, Xinnan;
Wang, Yuan;
Hu, Xiaowen;
Zhang, Jianfeng

Publication type:

Article

A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.

Published in:

Thrombosis Journal, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12959-025-00746-4

By:

Chen, Wanling;
Hu, Jiasheng

Publication type:

Article

Gut Microbiota Composition of American Horseshoe Crabs (Limulus polyphemus) from Yucatan Peninsula.

Published in:

Microbiology (00262617), 2025, v. 94, n. 3, p. 442, doi. 10.1134/S0026261724609187

By:

Nic-Matos, J. G.;
Puch-Hau, C. A.;
Mukul-Uhh, L. R.;
Quintanilla-Mena, M. A.;
Osorio-Montalvo, P. M.;
Sandoval-Gío, J. J.

Publication type:

Article

Integrative single-cell and cell-free plasma RNA transcriptomics identifies biomarkers for early non-invasive AD screening.

Published in:

Frontiers in Aging Neuroscience, 2025, p. 1, doi. 10.3389/fnagi.2025.1571783

By:

Wu, Li;
Zhang, Renxin;
Wang, Yichao;
Dai, Shaoxing;
Yang, Naixue

Publication type:

Article

Genomic Landscape of Advanced Solid Tumors in Middle East and North Africa Using Circulating Tumor DNA in Routine Clinical Practice.

Published in:

Oncology, 2025, v. 103, n. 6, p. 508, doi. 10.1159/000541571

By:

Dawood, Shaheenah;
Sandhir, Nippun;
Akasheh, Marwan;
El Khoury, Maroun;
Otsmane, Sonia;
Alnassar, Muath;
Abulkhair, Omalkhair;
Farhat, Fadi;
Olsen, Steve

Publication type:

Article

Single-Tube Multiplex PCR-SSP for the Detection of RHD Variant Alleles Commonly Found in Serologically D− Phenotype Individuals in a Thai Population.

Published in:

Transfusion Medicine & Hemotherapy, 2025, v. 52, n. 3, p. 169, doi. 10.1159/000544107

By:

Pittayabumrung, Ornuma;
Leelayuwat, Chanvit;
Romphruk, Amornrat V.;
Simtong, Piyapong

Publication type:

Article

A Novel c.459_460insC Variation in the XK Gene Associated with McLeod Syndrome.

Published in:

Transfusion Medicine & Hemotherapy, 2025, v. 52, n. 3, p. 211, doi. 10.1159/000539875

By:

Zhang, Bing;
Yu, Shifang;
Hong, Xiaozhen;
Xu, Xianguo;
Zhu, Faming

Publication type:

Article

Effect on DNA Stability of a Novel Pellet Storing Method for Liquid-Based Cytology Specimens Fixed Using an Alcohol-Based Preservation Solution: Studies Using EGFR Mutation Detection on a Lung Adenocarcinoma Cell Line.

Published in:

Acta Cytologica, 2025, v. 69, n. 3, p. 259, doi. 10.1159/000545062

By:

Matsuo, Yukiko;
Yoshida, Tsutomu;
Yamashita, Kazuya;
Satoh, Yukitoshi

Publication type:

Article

Програмовні пристрої з керованою багаторівневою деградацією: моделі, методи реконфігурації та аналізу реконфігуропридатності.

Published in:

Èlektronnoe Modelirovanie, 2025, v. 47, n. 1, p. 53, doi. 10.15407/emodel.47.01.053

By:

Вдовіченко, О. О.;
Харченко, В. С.

Publication type:

Article

Development of a qRT - PCR Diagnostic Kit for the Detection of FCoV.

Published in:

Cyprus Journal of Medical Sciences, 2025, v. 10, p. 1, doi. 10.4274/cjms.2025.2024-136

By:

Dereboylu, Gülten Tuncel;
Akan, Gökçe;
Kalaycı, Melis;
Özverel, Cenk Serhan;
Şanlıdağ, Tamer

Publication type:

Article

Genetic Diagnosis and Combinational Treatment With Pharmacomechanical Thrombectomy and Transjugular Intrahepatic Portosystemic Shunt for Non-cirrhotic and Non-malignant Portal Vein Thrombosis.

Published in:

Vascular & Endovascular Surgery, 2025, v. 59, n. 6, p. 631, doi. 10.1177/15385744251334793

By:

Chen, Feng;
Xiong, Qing Gen;
Lu, Fei;
Luo, Zhi Jian;
Luo, Wei;
Zhou, Wei

Publication type:

Article

Exercise alters transcriptional profiles of senescence and gut barrier integrity in intestinal crypts of aging mice.

Published in:

NPJ Aging, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41514-025-00242-z

By:

Jeon, Hyeonuk;
Lee, Siyeon;
Kim, Yumin;
Kim, Yeongmin;
Shin, Soyeon;
Lee, Yoseob;
Kim, Minki;
Ko, Eunbin;
Lee, Eunsu;
Song, Brian Min;
Choi, Hojeong;
Hwang, Nahee;
Han, Se-eun;
Hwang, Byungjin;
Kim, Jae-Woo;
Oh, Chang-Myung;
Fang, Sungsoon

Publication type:

Article

RNA sequencing uncovers key players of cartilage calcification: potential implications for osteoarthritis pathogenesis Open Access.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 3151, doi. 10.1093/rheumatology/keae587

By:

Bernabei, Ilaria;
Faure, Elodie;
Wegrzyn, Julien;
Bertheaume, Nicolas;
Falgayrac, Guillaume;
Hugle, Thomas;
Nasi, Sonia;
Busso, Nathalie

Publication type:

Article

Exploring genetic and immune cell dynamics in systemic lupus erythematosus patients with Epstein–Barr virus infection via machine learning.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 2656, doi. 10.1093/rheumatology/keae537

By:

Gui, Jiajun;
Fang, Mengyuan;
Tu, Jianxin;
Chen, Xiaowei;
Sun, Li

Publication type:

Article

Intestinal epithelial expression of human TNF is sufficient to induce small bowel inflammation and sacroiliitis, mimicking human spondyloarthritis.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 3116, doi. 10.1093/rheumatology/keae507

By:

Debusschere, Karlijn;
Souza, Donald;
Nabozny, Gerald H;
Dumas, Emilie;
Verheugen, Eveline;
Coudenys, Julie;
Manuello, Teddy;
Stappers, Flore;
Decruy, Tine;
Maelegheer, Margaux;
Schryvers, Nadia;
Gilis, Elisabeth;
Elewaut, Dirk

Publication type:

Article

Majeed syndrome: first description in a patient of central-European ancestry Open Access.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 3069, doi. 10.1093/rheumatology/keae480

By:

Drago, Enrico;
Bertoni, Arinna;
Grossi, Alice;
Damasio, Maria Beatrice;
Anfigeno, Lorenzo;
Miano, Maurizio;
Papa, Riccardo;
Volpi, Stefano;
Ceccherini, Isabella;
Gattorno, Marco;
Caorsi, Roberta

Publication type:

Article

Modifiable risk factors and inflammation-related proteins in polymyalgia rheumatica: genome-wide meta-analysis and Mendelian randomization Open Access.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 3012, doi. 10.1093/rheumatology/keae308

By:

Zhao, Sizheng Steven;
Mackie, Sarah L;
Larsson, Susanna C;
Burgess, Stephen;
Yuan, Shuai

Publication type:

Article

A Fragment Insertion of AgDFR Results in a White Flower Phenotype in Arundina graminifolia (Orchidaceae).

Published in:

Plants (2223-7747), 2025, v. 14, n. 11, p. 1680, doi. 10.3390/plants14111680

By:

Li, Jie;
Wei, Yonglu;
Jin, Jianpeng;
Gao, Jie;
Xie, Qi;
Yang, Fengxi;
Zhu, Genfa

Publication type:

Article

Phase Ia/Ib Study of Afatinib with Capecitabine in Patients with Refractory Solid Tumors and Pancreaticobiliary Cancers.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1830, doi. 10.3390/cancers17111830

By:

King, Gentry G.;
Baker, Kelsey K.;
Coveler, Andrew L.;
Harris, William P.;
Cohen, Stacey A.;
Shankaran, Veena;
Zhen, David B.;
Safyan, Rachael A.;
Lee, Hannah H.;
Alidina, Annie;
Hensel, Jeniece;
Hibbert, Reina;
Durm, Greg A.;
LaFary, Yvonne C.;
Younger, Anne;
Kugel, Sita;
Collisson, Eric;
Konnick, Eric Q.;
Redman, Mary W.;
Schneider, Bryan P.

Publication type:

Article

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1819, doi. 10.3390/cancers17111819

By:

Munch, Anne K.;
Feldner, Elisabeth S.;
Bækgaard, Caroline H.;
Larsen, Mie B.;
Slemming-Adamsen, Naja;
Boonen, Desirée S.;
Møller, Nanna B.;
Pedersen, Inge S.;
Hansen, Thomas V. O.;
Terkelsen, Thorkild;
Burton, Mark;
Hao, Qin;
Boonen, Susanne E.;
Thomassen, Mads

Publication type:

Article