Works matching DE "PHENOTYPES"

Results: 5000

Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1574325

By:

Maggo, Simran;
Pan, Yachen;
Ostrow, Dejerianne;
Nguyen, Jenny Q.;
Biegel, Jaclyn A.;
Deardorff, Matthew A.;
Gai, Xiaowu

Publication type:

Article

Clinical Phenotypic Variability and Significance of Pneumolabyrinth After Tympanum-Penetrating Injury.

Published in:

ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 7, p. NP416, doi. 10.1177/01455613221128132

By:

Yu, Huiqian;
Cai, Guoyu;
Wu, Jingfang;
Li, Qingzhong

Publication type:

Article

Lack of biochemical signalling in GelMA leads to polarity reversion in intestinal organoids independent from mechanoreciprocity.

Published in:

Journal of Tissue Engineering, 2025, v. 16, p. 1, doi. 10.1177/20417314251345000

By:

Vanhove, Lenie;
Van Gansbeke, Thomas;
Devriendt, Bert;
Van der Meeren, Ruben;
Dmitriev, Ruslan I.;
Okkelman, Irina A.

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 Rare Variant c.1024A>C in the ABO*A1.02 Allele Was Associated with an Ael Phenotype.

Published in:

Transfusion Medicine & Hemotherapy, 2025, v. 52, n. 3, p. 216, doi. 10.1159/000539130

By:

Li, Yan;
Ding, Mengyuan;
Ma, Zhaoze;
Zhou, Liling;
Wang, Chenlong

Publication type:

Article

Erratum to: Combining Transcriptome Analysis and Phenotype Assay Reveal the Indirect Role of Lysine Deacetylase CobB Through its Acetylation Regulation in Vibrio alginolyticus.

Published in:

2025

By:

Tang, X.;
Ding, R.;
Ding, Y.

Publication type:

Correction Notice

CRISPR/Cas9-mediated knockout of transcription factor MS1-like and AMS-like genes causes male sterility in tomatoes.

Published in:

Plant Biotechnology Reports, 2025, v. 19, n. 3, p. 301, doi. 10.1007/s11816-025-00975-z

By:

Seol, Young-Joo;
Oh, Jae-Hyeon;
Bae, Seon-Hwa;
Lee, Jinjeong;
Jeong, Hwang-Weon;
Ahn, Il Pyung;
Kim, Eunhee;
Kim, Sung Mi;
Park, Jihee

Publication type:

Article

Upregulation of SIRT1 ameliorates apoptosis of rat nucleus pulposus cells under oxidative stress through FoxO1/β-catenin pathway.

Published in:

Folia Histochemica et Cytobiologica, 2025, v. 63, n. 2, p. 53, doi. 10.5603/fhc.104395

By:

Hongtao Hu;
Sheng Wang;
Haijun Teng;
Sishun Zhao;
Weisheng Hong

Publication type:

Article

The Effect of GLUT-1-XbaI G>T and HaeIII T>C Polymorphisms on 18F-FDG Uptake Rates.

Published in:

Molecular Imaging & Radionuclide Therapy, 2025, v. 34, n. 2, p. N.PAG, doi. 10.4274/mirt.galenos.2025.93797

By:

Kısaarslan, Melih;
Adalı, Yasemin;
Aydın, Veli Kaan;
Berberoğlu, Yasemin;
Yüksel, Doğangün;
Köseler, Aylin

Publication type:

Article

The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 2902, doi. 10.1093/rheumatology/keaf139

By:

Ulu, Kadir;
Coşkuner, Taner;
Baykal, Gülcan Özomay;
Yarar, Murat Hakkı;
Yiğit, Ramazan Emre;
Türkmen, Şeyma;
Tunce, Eray;
Uçar, Sıla Atamyıldız;
Pirim, Gülşah;
Eser, Metin;
Sözeri, Betül

Publication type:

Article

Unveiling the hidden trajectories of gastrointestinal disease in systemic sclerosis Free.

Published in:

2025

By:

Bonomi, Francesco;
Bandini, Giulia;
Guiducci, Serena;
Matucci-Cerinic, Marco;
Randone, Silvia Bellando

Publication type:

Editorial

Combined radiographic and US evaluations to decipher joint involvement in the hands of patients with SSc.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 2756, doi. 10.1093/rheumatology/keae602

By:

Tas, Marine;
Lecigne, Romain;
Belhomme, Nicolas;
Robin, François;
Louis, Thibaut;
Perlat, Antoinette;
Cazalets, Claire;
Coiffier, Guillaume;
Lescoat, Alain

Publication type:

Article

Association of serum interferon alpha-2a levels with disease severity and prognosis in systemic sclerosis.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 2792, doi. 10.1093/rheumatology/keae546

By:

Gerges, Elias;
Cauvet, Anne;
Schwarz, Maximilian;
Avouac, Jérôme;
Allanore, Yannick

Publication type:

Article

The role and mechanism of CRISPLD2 in skin fibrosis of systemic sclerosis.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 3134, doi. 10.1093/rheumatology/keae541

By:

Ding, Liqing;
Bao, Ding;
Dai, Bingying;
Meng, Qiming;
Lv, Chunliu;
Luo, Hui;
Zhu, Honglin

Publication type:

Article

Distinct clinical trajectories of gastrointestinal progression among patients with systemic sclerosis.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 2766, doi. 10.1093/rheumatology/keae469

By:

Perin, Jamie;
Hughes, Michael;
Mecoli, Christopher A;
Paik, Julie J;
Gelber, Allan C;
Wigley, Fredrick M;
Hummers, Laura K;
Shah, Ami A;
Zeger, Scott L;
McMahan, Zsuzsanna H

Publication type:

Article

Comparative B cell epitope profiling in Japanese and North American cohorts of MDA5+ dermatomyositis patients reveals a direct association between immune repertoire and pulmonary mortality.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 2953, doi. 10.1093/rheumatology/keae466

By:

Yamaguchi, Koichi;
Poland, Paul;
Zhu, Lei;
Moghadam-Kia, Siamak;
Aggarwal, Rohit;
Maeno, Toshitaka;
Uchiyama, Akihiko;
Motegi, Sei-ichiro;
Oddis, Chester V;
Ascherman, Dana P

Publication type:

Article

Factors influencing bone mineral density in hyperparathyroidism phenotypes: a prospective study.

Published in:

Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1562340

By:

Giocondo, Margot;
Ponte, Belén;
de Seigneux, Sophie;
Sadowski, Samira M.;
Bédat, Benoît;
Triponez, Frédéric;
Demarchi, Marco Stefano

Publication type:

Article

Genomic insights into the spread of vancomycin- and tigecycline-resistant Enterococcus faecium ST117.

Published in:

Annals of Clinical Microbiology & Antimicrobials, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12941-025-00806-7

By:

Brajerova, Marie;
Nyc, Otakar;
Drevinek, Pavel;
Krutova, Marcela

Publication type:

Article

Network architecture of transcriptomic stress responses in zebrafish embryos.

Published in:

PLoS Computational Biology, 2025, v. 21, n. 6, p. 1, doi. 10.1371/journal.pcbi.1013164

By:

Beine, Kaylee;
Feugere, Lauric;
Turner, Alexander P.;
Wollenberg Valero, Katharina C.

Publication type:

Article

Genetic Dissection of Sorghum Dwarfism Through Systematic Screening of Dw1 – Dw3 Alleles in Chinese Germplasm.

Published in:

Plants (2223-7747), 2025, v. 14, n. 11, p. 1703, doi. 10.3390/plants14111703

By:

Wang, Ping;
Liang, Bingbing;
Li, Zhengjun;
Chen, Le;
Liu, Kejie;
Wang, Lijuan;
Zhang, Lixia;
Lu, Xiaochun

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

Variation and QTL Analysis of Dynamic Tillering in Rice Under Nitrogen and Straw Return Treatments.

Published in:

Agriculture; Basel, 2025, v. 15, n. 11, p. 1115, doi. 10.3390/agriculture15111115

By:

Shui, Yang;
Guo, Faping;
Peng, Youlin;
Yin, Wei;
Qi, Pan;
Hu, Yungao;
Yan, Shengmin

Publication type:

Article

The Immunomodulatory Role of Galectin-1 in the Tumour Microenvironment and Strategies for Therapeutic Applications.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1888, doi. 10.3390/cancers17111888

By:

Griffiths, Alice;
Udomjarumanee, Palita;
Georgescu, Andrei-Stefan;
Barri, Muruj;
Zinovkin, Dmitry A.;
Pranjol, Md Zahidul I.

Publication type:

Article

Potential of Metabolic MRI to Address Unmet Clinical Needs in Localised Kidney Cancer.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1773, doi. 10.3390/cancers17111773

By:

Horvat-Menih, Ines;
Stewart, Grant D.;
Gallagher, Ferdia A.

Publication type:

Article

The Interplay of SMAD4 and EMT in Oral Squamous Cell Carcinoma.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1761, doi. 10.3390/cancers17111761

By:

Mozalbat, Shiraz;
Nashef, Aysar;
Maalouf, Naseem;
Abdol-Elraziq, Murad;
El-naaj, Imad Abu;
Tadmor, Hagar;
Ghantous, Yasmin

Publication type:

Article

Vitamin D Supplementation in Heart Failure—Confusion Without a Cause?

Published in:

Nutrients, 2025, v. 17, n. 11, p. 1839, doi. 10.3390/nu17111839

By:

Kampka, Zofia;
Czapla, Dominika;
Wojakowski, Wojciech;
Stanek, Agata

Publication type:

Article

The Role of Nutraceuticals and Functional Foods in Mitigating Cellular Senescence and Its Related Aspects: A Key Strategy for Delaying or Preventing Aging and Neurodegenerative Disorders.

Published in:

Nutrients, 2025, v. 17, n. 11, p. 1837, doi. 10.3390/nu17111837

By:

Ristori, Sara;
Bertoni, Gianmarco;
Bientinesi, Elisa;
Monti, Daniela

Publication type:

Article

Dietary Omega-3 PUFAs in Metabolic Disease Research: A Decade of Omics-Enabled Insights (2014–2024).

Published in:

Nutrients, 2025, v. 17, n. 11, p. 1836, doi. 10.3390/nu17111836

By:

Li, Jing;
Lin, Yang-Chi-Dung;
Zuo, Hua-Li;
Huang, Hsi-Yuan;
Zhang, Tao;
Bai, Jin-Wei;
Huang, Hsien-Da

Publication type:

Article

Clinical Phenotypes of Severe Cow's Milk Protein Allergy with Various Responses to Amino Acid-Based Formula.

Published in:

Nutrients, 2025, v. 17, n. 11, p. 1809, doi. 10.3390/nu17111809

By:

Błażowski, Łukasz;
Podlecka, Daniela;
Brzozowska, Agnieszka;
Jerzyńska, Joanna;
Seweryn, Michał;
Błażowski, Marcin;
Majak, Paweł

Publication type:

Article

bT RM Control of Murine Cytomegalovirus CNS Reactivation.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5275, doi. 10.3390/ijms26115275

By:

Chauhan, Priyanka;
Hu, Shuxian;
Sheng, Wen S.;
Prasad, Sujata;
Lokensgard, James R.

Publication type:

Article

Serums miR-24-3p and miR-1301-3p as Potential Biomarkers in MEN1 Syndrome.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5076, doi. 10.3390/ijms26115076

By:

Donati, Simone;
Aurilia, Cinzia;
Marini, Francesca;
Giusti, Francesca;
Palmini, Gaia;
Falsetti, Irene;
Cioppi, Federica;
Ranaldi, Francesco;
Iantomasi, Teresa;
Moro, Arcangelo;
Tonelli, Francesco;
Brandi, Maria Luisa

Publication type:

Article

Association of Functional Gene Variants in DYSF–ZNF638, MTSS1 and Ferroptosis-Related Genes with Multiple Sclerosis Severity and Target Gene Expression.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 4986, doi. 10.3390/ijms26114986

By:

Djuric, Tamara;
Djordjevic, Ana;
Kuveljic, Jovana;
Stefanovic, Milan;
Dincic, Evica;
Kolakovic, Ana;
Zivkovic, Maja

Publication type:

Article

Emotional Dysregulation and Cognitive Disengagement Syndrome: Exploring Their Relationship Through the Lens of Twin Studies.

Published in:

Applied Sciences (2076-3417), 2025, v. 15, n. 11, p. 6067, doi. 10.3390/app15116067

By:

De Giuli, Gaia;
Amico, Cecilia;
De Francesco, Stefano;
Giani, Ludovica;
Tüzün, Gülşah;
Galli, Federico;
Caputi, Marcella;
Forresi, Barbara;
Scaini, Simona

Publication type:

Article

Genomic Landscape of Mixed Phenotype Acute Leukemia Associated With Immunophenotypic Lineage Predominance: Impact on Diagnosis and Treatment.

Published in:

European Journal of Haematology, 2025, v. 114, n. 6, p. 1041, doi. 10.1111/ejh.14414

By:

Zheng, Ruifang;
Gagan, Jeffrey R.;
Botten, Giovanni A.;
Koduru, Prasad;
Weinberg, Olga K.;
Chen, Mingyi;
Cantu, Miguel D.;
Jaso, Jesse;
Germans, Sharon;
Luu, Hung S.;
Han, Lina;
Slone, Tamra L.;
Dickerson, Kathryn E.;
John, Samuel;
Madanat, Yazan F.;
Chung, Stephen;
Collins, Robert;
Marinos, Alejandro;
Fuda, Franklin;
Chen, Weina

Publication type:

Article

Maternal Phenotype, Infant Size and Breast Milk Composition in Women Living With HIV.

Published in:

Maternal & Child Nutrition, 2025, v. 21, n. 3, p. 1, doi. 10.1111/mcn.13807

By:

Gilfillan, Marlene;
Wenhold, Friedeburg. A. M.;
Mulol, Helen;
Feucht, Ute. D.

Publication type:

Article

Prediction and annotation of alternative transcription starts and promoter shift in the chicken genome.

Published in:

Journal of Bioinformatics & Computational Biology, 2025, v. 23, n. 2, p. 1, doi. 10.1142/S0219720025500040

By:

Grushina, Valentina A.;
Yevshin, Ivan S.;
Gusev, Oleg A.;
Kolpakov, Fedor A.;
Stanishevskaya, Olga I.;
Fedorova, Elena S.;
Zinovieva, Natalia A.;
Pintus, Sergey S.

Publication type:

Article

Identification of an IncHI5-like plasmid co-harboring bla NDM−1 and bla OXA−1 in mcr-8.1 -positive Klebsiella pneumoniae isolate.

Published in:

Frontiers in Microbiology, 2025, p. 1, doi. 10.3389/fmicb.2025.1601035

By:

Liu, Xu;
Zhang, Tingting;
Yu, Zhiyang;
Qin, Shangshang;
Zhang, Muchen;
Li, Yan

Publication type:

Article

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1549685

By:

Serban, Costela Lacrimioara;
Mihailescu, Alexandra;
Miclea, Diana;
Zimbru, Cristian G.;
Stoica, Florina;
Chirita-Emandi, Adela

Publication type:

Article

Reduced Parallel Gene Expression Evolution With Increasing Genetic Divergence—A Hallmark of Polygenic Adaptation.

Published in:

Molecular Ecology, 2025, v. 34, n. 12, p. 1, doi. 10.1111/mec.17803

By:

Thorhölludottir, Dagny A. V.;
Hsu, Sheng‐Kai;
Barghi, Neda;
Mallard, François;
Nolte, Viola;
Schlötterer, Christian

Publication type:

Article

Identification of a Novel TP63 Variant in a Chinese Patient with Orofacial Clefts and Ectrodactyly: Case Report and Literature Review.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 7, p. 1263, doi. 10.1177/10556656241241132

By:

Jiang, Leheng;
Jiang, Chanyuan;
Song, Tao;
Wang, Yongqian;
Si, Nuo;
Li, Haidong;
Yin, Ningbei

Publication type:

Article

Variation and Inheritance of an Atypical Form of the Anterior Lobe of M1 of Lemmus trimucronatus chrysogaster (Rodentia, Arvicolinae).

Published in:

Biology Bulletin, 2025, v. 52, n. 3, p. 1, doi. 10.1134/S1062359024612394

By:

Cheprakov, M. I.

Publication type:

Article

Predicting bacterial phenotypic traits through improved machine learning using high-quality, curated datasets.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08313-3

By:

Koblitz, Julia;
Reimer, Lorenz Christian;
Pukall, Rüdiger;
Overmann, Jörg

Publication type:

Article

A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant.

Published in:

2025

By:

Cai, Haoyu;
Huang, Xu'an;
Chen, Haojie;
Zhao, Junduo;
Sun, Heng;
Huang, Yizhen;
Guo, Jiayue;
Shen, Jianxiong

Publication type:

Case Study

Pod-pose : an efficient top-down keypoint detection model for fine-grained pod phenotyping in mature soybean.

Published in:

Plant Methods, 2025, v. 21, n. 1, p. 1, doi. 10.1186/s13007-025-01399-0

By:

Liu, Fei;
Liu, Hang;
Wu, Qiong;
Han, Zhongzhi;
Pang, Shanchen;
Wang, Shudong;
Zhao, Longgang

Publication type:

Article

Leveraging shared variation among traits for the discovery of genetic variants in complex phenotypes such as obesity.

Published in:

Obesity (19307381), 2025, v. 33, n. 6, p. 1025, doi. 10.1002/oby.24313

By:

Fernández‐Verdejo, Rodrigo;
Hughes, David;
Ravussin, Eric

Publication type:

Article

A multigenerational population-growth assay to capture subtle fitness phenotypes in C. elegans and other nematodes.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf073

By:

Tintori, Sophia C;
Çağlar, Derin;
Rockman, Matthew V

Publication type:

Article

Estimation of heritabilities and genetic correlations by time slices using predictivity in large genomic models Open Access.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf066

By:

Misztal, Ignacy;
Gowane, Gopal

Publication type:

Article

Replacement of Arabidopsis H2A.Z with human H2A.Z orthologs reveals extensive functional conservation and limited importance of the N-terminal tail sequence for Arabidopsis development.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf065

By:

Sijacic, Paja;
Holder, Dylan H;
Silver, Brianna D;
Krall, Ellen G;
Willett, Courtney G;
Foroozani, Maryam;
Deal, Roger B

Publication type:

Article

Effects of hybridization and gene flow on gene co-expression networks.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf057

By:

Runghen, Rogini;
Bolnick, Daniel I

Publication type:

Article

Vitamin B12 partially rescues embryonic cell migration defects in Caenorhabditis elegans ephrin mutants by improving propionic acid breakdown and one-carbon cycle metabolism.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf054

By:

Ganjawala, Tushar H;
Hsiao, Erin;
Amom, Prativa;
Molaei, Radmehr;
Goodwin, Samantha;
Zacharias, Amanda L

Publication type:

Article