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

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

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

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

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

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

Fork-barrier-independent roles of topoisomerase I in the ribosomal DNA.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf052

By:

Molinar, Temistocles;
Sultanov, Daniel;
Klein, Hannah;
Hochwagen, Andreas

Publication type:

Article

Kin investment biases of aunts and uncles: associations with phenotypic resemblance and sociodemographic characteristics.

Published in:

Anthropologischer Anzeiger, 2025, v. 82, n. 2, p. 123, doi. 10.1127/anthranz/2024/1787

By:

Nikakhtar, Alireza;
Kirchengast, Sylvia;
Bazram, Adel;
Rafezi, Zohreh

Publication type:

Article

Assessment and Correlates of Different Phenotypical Characteristics of Psychological Flexibility in Adapting to Chronic Pain: A Feasibility Study.

Published in:

Pain Practice, 2025, v. 25, n. 5, p. 1, doi. 10.1111/papr.70047

By:

Legierse, Ivo P.;
van Middendorp, Henriët;
Borgonjen, Maike;
Bronkhorst, Ewald M.;
Pisters, Martijn F.;
Vissers, Kris C. P.;
Steegers, Monique A. H.

Publication type:

Article

Genetic Relationship and Diversity among Pea (Pisum sativum L.) Genotypes Assessed using Morphological and Molecular Markers.

Published in:

Legume Research: An International Journal, 2025, v. 48, n. 6, p. 919, doi. 10.18805/LR-5057

By:

Latha, G. K.;
Kerure, Prakash;
Ramesh, A. N.;
Srinivasa, V.;
Devaraju;
Kantharaj, Y.;
Aghora, T. S.;
Santhosh, D. B.;
Patil, Akshata

Publication type:

Article

Environmental data provide marginal benefit for predicting climate adaptation.

Published in:

PLoS Genetics, 2025, v. 21, n. 6, p. 1, doi. 10.1371/journal.pgen.1011714

By:

Li, Forrest;
Gates, Daniel J.;
Buckler, Edward S.;
Hufford, Matthew B.;
Janzen, Garrett M.;
Rellán-Álvarez, Rubén;
Rodríguez-Zapata, Fausto;
Romero Navarro, J. Alberto;
Sawers, Ruairidh J. H.;
Snodgrass, Samantha J.;
Sonder, Kai;
Willcox, Martha C.;
Hearne, Sarah J.;
Ross-Ibarra, Jeffrey;
Runcie, Daniel E.

Publication type:

Article

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60339-7

By:

Wei, Angela;
Border, Richard;
Fu, Boyang;
Cullina, Sinéad;
Brandes, Nadav;
Jang, Seon-Kyeong;
Sankararaman, Sriram;
Kenny, Eimear E.;
Udler, Miriam S.;
Ntranos, Vasilis;
Zaitlen, Noah;
Arboleda, Valerie A.

Publication type:

Article

Prevalence, Phenotype, and Correlates of Avoidant/Restrictive Food Intake Disorder Symptoms in the Gulf Cooperation Council: An Underserved Region.

Published in:

International Journal of Eating Disorders, 2025, v. 58, n. 6, p. 1060, doi. 10.1002/eat.24400

By:

Melisse, Bernou;
Fakhri, Hassan;
Kennedy, Lynne;
Figueiras, Maria J.;
Alshebali, Munirah;
Taha, Hala Abu;
el Khazen, Carine;
Alkazemi, Dalal;
Mulkens, Sandra

Publication type:

Article

臺灣絨鼠毛色相關基因之鑑定.

Published in:

Journal of the Chinese Society of Animal Science, 2024, v. 53, p. 375

By:

鄭卉妤;
蕭雅芠;
黃德維;
游顗蓉;
賴子殷;
張啟聖

Publication type:

Article

台灣地區不同遺傳背景母豬繁殖性狀分析與資料庫建立.

Published in:

Journal of the Chinese Society of Animal Science, 2024, v. 53, p. 214

By:

葉瑞庭;
蔡長宏;
邱奕旼;
王迪槊;
姜中鳳

Publication type:

Article

Inhaled LAMA in the management of asthma: when to add an anticholinergic versus increase inhaled corticosteroid dose.

Published in:

Polish Journal of Allergology / Alergologia Polska, 2025, v. 12, n. 2, p. 106, doi. 10.5114/pja.2025.151349

By:

Pawliczak, Rafał

Publication type:

Article

Clinical manifestation of autosomal dominant hyper-IgE syndrome with associated autism.

Published in:

Polish Journal of Allergology / Alergologia Polska, 2025, v. 12, n. 2, p. 140, doi. 10.5114/pja.2025.151308

By:

Muciek, Adrianna;
Rutkowska-Zapała, Magdalena;
Szaflarska, Anna

Publication type:

Article

Jacobsen syndrome in a patient with combined immunodeficiency, thrombocytopenia, congenital heart disease and facial dysmorphism: a case report and review of literature.

Published in:

Polish Journal of Allergology / Alergologia Polska, 2025, v. 12, n. 2, p. 147, doi. 10.5114/pja.2025.151295

By:

Özdemir, Öner;
Dikici, Ümmügülsüm;
Yarar, Murat Hakkı

Publication type:

Article

Diversification of CLE expression patterns and nonmeristematic roles for CLAVATA receptor‐like kinases in a moss.

Published in:

New Phytologist, 2025, v. 247, n. 1, p. 325, doi. 10.1111/nph.70170

By:

Nemec‐Venza, Zoe;
Greiff, George R. L.;
Harrison, C. Jill

Publication type:

Article