Works matching DE "GENETIC variation"

Results: 5000

Genomic and Developmental Models to Predict Cognitive and Adaptive Outcomes in Autistic Children.

Published in:

JAMA Pediatrics, 2025, v. 179, n. 6, p. 655, doi. 10.1001/jamapediatrics.2025.0205

By:

Bourque, Vincent-Raphaël;
Schmilovich, Zoe;
Huguet, Guillaume;
England, Jade;
Okewole, Adeniran;
Poulain, Cécile;
Renne, Thomas;
Jean-Louis, Martineau;
Saci, Zohra;
Zhang, Xinhe;
Rolland, Thomas;
Labbé, Aurélie;
Vorstman, Jacob;
Rouleau, Guy A.;
Baron-Cohen, Simon;
Mottron, Laurent;
Bethlehem, Richard A. I.;
Warrier, Varun;
Jacquemont, Sébastien

Publication type:

Article

Congenital Hypothyroidism with Thyroid in situ: A Case Report with NKX2-1 and DUOX2 Hypomorphic Variants.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 289, doi. 10.1159/000538895

By:

Uehara, Erika;
Hori, Naoaki;
Tanase-Nakao, Kanako;
Akiba, Kazuhisa;
Sueoka, Hidefumi;
Matsubara, Keiko;
Narumi, Satoshi

Publication type:

Article

Identification of heterozygous mutations of ABCC8 gene responsible for maturity-onset diabetes of the young with exome sequencing.

Published in:

Acta Diabetologica, 2025, v. 62, n. 6, p. 935, doi. 10.1007/s00592-024-02410-1

By:

Liu, Yanxia;
Ren, Shuxin;
Zhu, Chaofeng;
Chen, Sufang;
Zhang, Huijuan;
Zhang, Juan;
Li, Jianhua;
Jiang, Yanyan

Publication type:

Article

Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00315-1

By:

Kobayashi, Yuki;
Adachi, Takeya;
Tahara, Umi;
Tanaka, Moemi;
Arakawa, Hiroki;
Funatsu, Yohei;
Moritani, Kazunori;
Yamada, Mamiko;
Kosaki, Kenjiro;
Inazumi, Toyoko

Publication type:

Article

Postnatal Outcomes of Fetal Variants of Unknown Significance in Prenatal Chromosomal Microarray Analysis: A Single-Center Study.

Published in:

Fetal Diagnosis & Therapy, 2025, v. 52, n. 3, p. 225, doi. 10.1159/000542147

By:

Yin, Lizhong;
Wang, Jing;
Zhang, Bin;
Wang, Wenli;
Yu, Bin

Publication type:

Article

Chlorella vulgaris mutants with altered cell walls show increased permeability and enhanced extractability of intracellular molecules.

Published in:

Biotechnology for Biofuels & Bioproducts, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13068-025-02663-0

By:

Canteri, Paolo;
Battarra, Claudia;
Mandalà, Giulia;
Monti, Francesca;
Bellini, Erika;
Hidasi, Nora;
Guardini, Zeno;
Ferrari, Simone;
Bassi, Roberto;
Dall'Osto, Luca

Publication type:

Article

Household clustering and seasonal genetic variation of Plasmodium falciparum at the community-level in The Gambia.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.103047

By:

Guery, Marc-Antoine;
Ceesay, Sukai;
Drammeh, Sainabou;
Jaiteh, Fatou K.;
D'Alessandro, Umberto;
Bousema, Teun;
Conway, David J.;
Claessens, Antoine

Publication type:

Article

Broadening the gene base of peanut breeding using incompatible wild species.

Published in:

Oil Crop Science, 2025, v. 10, n. 1, p. 44, doi. 10.1016/j.ocsci.2024.11.004

By:

Chunjiao Jiang;
Jiakai Li;
Haojie Sun;
Zhiwei Wang;
Zhen Yang;
Chuantang Wang

Publication type:

Article

Does genetically determined variation in C-reactive protein affect disease activity assessment in rheumatoid arthritis?

Published in:

2025

By:

Acosta-Herrera, Marialbert;
Martin, Javier;
González-Gay, Miguel A

Publication type:

Editorial

Contributing to the Functional Classification of Missense Variants in RAG1 Protein from Structural Perspective.

Published in:

Experimed, 2025, v. 15, n. 1, p. 31, doi. 10.26650/experimed.1562959

By:

Kutlu, Asli;
Isikgil, Begum;
Firtina, Sinem

Publication type:

Article

Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00315-1

By:

Kobayashi, Yuki;
Adachi, Takeya;
Tahara, Umi;
Tanaka, Moemi;
Arakawa, Hiroki;
Funatsu, Yohei;
Moritani, Kazunori;
Yamada, Mamiko;
Kosaki, Kenjiro;
Inazumi, Toyoko

Publication type:

Article

The genetic landscape of pediatric postural orthostatic tachycardia syndrome.

Published in:

Clinical Autonomic Research, 2025, v. 35, n. 3, p. 431, doi. 10.1007/s10286-025-01110-2

By:

Qu, Huiqi;
Qu, Jingchun;
Chang, Xiao;
Williams, Nolan;
Mentch, Frank;
Snyder, James;
Lemma, Maria;
Nguyen, Kenny;
Behr, Meckenzie;
March, Michael;
Connolly, John;
Glessner, Joseph;
Boris, Jeffrey R.;
Hakonarson, Hakon

Publication type:

Article

EVALUATION ON GENETIC DIVERSITY OF PHENOTYPIC TRAITS IN MYROBALAN PLUM (Prunus Cerasifera EHRH.).

Published in:

South-Western Journal of Horticulture Biology & Environment, 2018, v. 9, n. 1, p. 25

By:

COSMULESCU, Sina Niculina;
IONICA, Mira Elena;
MUTU, Nicoleta

Publication type:

Article

The Impact of Adverse Childhood Experiences on the Development of Adolescent Risk-Taking: The Mediating Effect of Self-Control and Moderating Effect of Genetic Variations.

Published in:

Journal of Youth & Adolescence, 2025, v. 54, n. 6, p. 1356, doi. 10.1007/s10964-025-02136-5

By:

Wang, Lin-Xin;
Li, Jian-Bin;
Liu, Zi-Hao;
Zeng, Jin;
Dou, Kai

Publication type:

Article

Selective Diversity in RNA Viruses: Do They Know How to Evolve? A Hypothesis.

Published in:

BioEssays, 2025, v. 47, n. 4, p. 1, doi. 10.1002/bies.202400281

By:

Nemchinov, Lev G.

Publication type:

Article

Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes.

Published in:

BioEssays, 2025, v. 47, n. 4, p. 1, doi. 10.1002/bies.202400232

By:

Rodriguez‐Algarra, Francisco;
Whittaker, Elliott;
del Castillo del Rio, Sandra;
Rakyan, Vardhman K.

Publication type:

Article

Clinical, Immunologic, and Genetic Characteristics in Patients With Syndrome of Undifferentiated Recurrent Fevers.

Published in:

Arthritis & Rheumatology, 2025, v. 77, n. 5, p. 596, doi. 10.1002/art.43065

By:

Macaraeg, Marci;
Baker, Elizabeth;
Handorf, Elizabeth;
Matt, Michael;
Baker, Elizabeth K.;
Brunner, Hermine;
Grom, Alexei A.;
Henrickson, Michael;
Huggins, Jennifer;
Zhang, Wenying;
Lee, Pui;
Marsh, Rebecca;
Schulert, Grant S.

Publication type:

Article

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult‐Onset Still's Disease.

Published in:

Arthritis & Rheumatology, 2025, v. 77, n. 5, p. 582, doi. 10.1002/art.43054

By:

Topping, Joanne;
Chang, Leon;
Nadat, Fatima;
Poulter, James A.;
Ibbotson, Alice;
Lara‐Reyna, Samuel;
Watson, Christopher M.;
Carter, Clive;
Pournara, Linda P.;
Zernicke, Jan;
Ross, Rebecca L.;
Cargo, Catherine;
Lyons, Paul A.;
Smith, Kenneth G. C.;
Del Galdo, Francesco;
Rech, Jürgen;
Fautrel, Bruno;
Feist, Eugen;
McDermott, Michael F.;
Savic, Sinisa

Publication type:

Article

Long-term outcome of CblC deficiency complicated with pulmonary hypertension.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03839-5

By:

Ding, Si;
Deng, Yuxin;
Hao, Lili;
Qiu, Wenjuan;
Wu, Shengnan;
Chen, Yongxing;
Chen, Ting;
Zhan, Xia;
Han, Lianshu;
Jiao, Xianting

Publication type:

Article

Cryptic absence and genetic variation of Plasmodium falciparum PfHRP2 and PfHRP3 from isolates in Papua, Indonesia.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-02834-x

By:

Puspitasari, Agatha Mia;
Sutanto, Edwin;
Syauqi, Khilal;
Amalia, Ristya;
Nisa, Fahira Ainun;
Trianty, Leily;
Sidhartha, Elizabeth;
Kenangalem, Enny;
Poespoprodjo, Jeanne Rini;
Ahmed, Rukhsana;
Owusu, Ewurama;
Carlier, Lise;
Tetteh, Kevin K. A.;
Cheng, Qin;
Noviyanti, Rintis

Publication type:

Article

Investigating the non‐linear association between sleep duration and type 2 diabetes: conventional and Mendelian randomization analyses from the UK Biobank.

Published in:

Journal of Diabetes Investigation, 2025, v. 16, n. 6, p. 1126, doi. 10.1111/jdi.70039

By:

Kuroda, Hiroyuki;
Yeung, Shiu Lun Au;
Fujii, Ryosuke;
Iwagami, Masao;
Goto, Atsushi

Publication type:

Article

Polymorphism of splicing factor 3A subunit 3/PstI gene and its association with the performance of Madura cows (Bos indicus).

Published in:

Veterinary World, 2025, v. 18, n. 5, p. 1306, doi. 10.14202/vetworld.2025.1306-1312

By:

Bayu Putra, Widya Pintaka;
Hartati, Hartati;
Margawati, Endang Tri;
Mariyono, Mariyono;
Maulana, Tulus;
Tyasi, Thobela Louis

Publication type:

Article

Pytrf: a python package for finding tandem repeats from genomic sequences.

Published in:

BMC Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12859-025-06168-3

By:

Du, Lianming;
Sun, Dalin;
Chen, Jiahao;
Zhou, Xinyi;
Zhao, Kelei;
Zeng, Qianglin;
Yang, Nan

Publication type:

Article

Sodium azide mutagenesis induces a unique pattern of mutations.

Published in:

PLoS Genetics, 2025, v. 21, n. 6, p. 1, doi. 10.1371/journal.pgen.1011634

By:

Liu, Chaochih;
Frascarelli, Giulia;
Stec, Adrian O.;
Heinen, Shane;
Lei, Li;
Wyant, Skylar R.;
Legg, Erik;
Spiller, Monika;
Muehlbauer, Gary J.;
Smith, Kevin P.;
Fay, Justin C.;
Morrell, Peter L.

Publication type:

Article

扇穗茅全长转录组 SSR 特征分析及分子标记开发.

Published in:

Acta Prataculturae Sinica, 2025, v. 35, n. 7, p. 107, doi. 10.11686/cyxb2024304

By:

富贵;
刘玉萍;
苏旭;
曲荣举;
才让扎西

Publication type:

Article

不同种源乌拉尔甘草种子萌发及幼苗生长比较研究.

Published in:

Acta Prataculturae Sinica, 2025, v. 35, n. 7, p. 196, doi. 10.11686/cyxb2024313

By:

白小红;
陈文燕;
李琴;
王奕璇;
张雪;
王磊;
曲文杰;
朱林

Publication type:

Article

暗褐脉柄牛肝菌种质资源遗传多样性.

Published in:

Mycosystema, 2025, v. 44, n. 5, p. 1, doi. 10.13346/j.mycosystema.250009

By:

李凡;
曹瑶;
杨爱霞;
罗祥英;
雷洪涛;
孟国良;
董彩虹;
李荣春

Publication type:

Article

RNA‐sequencing: A reliable tool to unveil transcriptional landscape of paediatric B‐other acute lymphoblastic leukaemia.

Published in:

British Journal of Haematology, 2025, v. 206, n. 5, p. 1355, doi. 10.1111/bjh.20056

By:

Vicente‐Garcés, Clara;
Fernández, Guerau;
Esperanza‐Cebollada, Elena;
Richarte‐Franqués, Mercè;
Crespo‐Carrasco, Alba;
Montesdeoca, Sara;
Isola, Ignacio;
Sarrate, Edurne;
Cuatrecasas, Esther;
Rives, Susana;
Dapena, José Luis;
Camós, Mireia;
Vega‐García, Nerea

Publication type:

Article

Heterozygous germline TET2 loss‐of‐function variants associated with an ALPS‐like phenotype.

Published in:

British Journal of Haematology, 2025, v. 206, n. 5, p. 1330, doi. 10.1111/bjh.20042

By:

Harrop, Sean;
Casan, Joshua;
Rose, Hannah;
Sullivan, Michael;
Mehr, Sam;
Ngu, Henry;
Caldwell, Imogen;
McKendrick, Joseph;
Anderson, Mary Ann;
Den Elzen, Nicole;
Goode, Erin;
Fox, Lucy C.;
Lade, Stephen;
Blombery, Piers

Publication type:

Article

Editorial: A year in review: discussions in human and medical genomics.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1618183

By:

Freidin, Maxim B.;
Roach, Jared C.

Publication type:

Article

Wastewater dataset on the SARS-CoV-2 sublineages circulating in Central Arkansas, USA, post-COVID-19 pandemic.

Published in:

Scientific Data, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41597-025-05100-x

By:

Tryndyak, Volodymyr P.;
Kudlyk, Tetyana;
Shores, Patricia;
Vanlandingham, Michelle M.;
Mullis, Lisa;
Camacho, Luísa;
Azevedo, Marli;
Silva, Camila S.

Publication type:

Article

Clinicopathological characteristics of progressive gastrointestinal stromal tumors and heterogeneity analyses of secondary mutations.

Published in:

Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf110

By:

Li, Jiaxin;
Sun, Lin;
Liu, Shasha;
Liu, Huimin;
Li, Bin;
Zhan, Hongjie;
Sun, Yan

Publication type:

Article

Zmienność genetyczna i fenotypowa linii jarej pszenicy zwyczajnej (Triticum aestivum L.) o wysokim potencjale hodowlanym.

Published in:

Agronomy Science, 2025, v. 80, n. 1, p. 51, doi. 10.24326/as.2025.5470

By:

JĘDZURA, SYLWIA;
MAŃKOWSKI, DARIUSZ;
MATYSIK, PRZEMYSŁAW;
NIEDZIELA, AGNIESZKA

Publication type:

Article

Fabry disease in Argentina: Clinical, Biochemical and Molecular Correlation in all reported GLA variants.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 322

By:

Politei, Juan;
Ceci, Romina;
Procopio, Domingo;
Silvestroff, Lucas;
Valdez, Rita;
Rozenfeld, Paula A.

Publication type:

Article

Fabry disease in Argentina: Clinical, Biochemical and Molecular Correlation in all reported GLA variants.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 322

By:

Politei, Juan;
Ceci, Romina;
Procopio, Domingo;
Silvestroff, Lucas;
Valdez, Rita;
Rozenfeld, Paula A.

Publication type:

Article

Optimizing integrated distributed flexible job-shop scheduling and customer order delivery.

Published in:

Journal of Industrial & Production Engineering, 2025, v. 42, n. 4, p. 440, doi. 10.1080/21681015.2024.2435847

By:

Fathi, Masood;
Beheshtinia, Mohammad Ali;
Ghobakhloo, Morteza;
Al-Emran, Mostafa

Publication type:

Article

Exploring Genetic Diversity: Optimizing Simple Sequence Repeat (SSR) Markers in Crotalaria for Enhanced Precision in Biodiversity Research.

Published in:

Scientifica, 2025, v. 2025, p. 1, doi. 10.1155/sci5/2409286

By:

Odhoch, Phenny Sharon;
Budambula, Nancy L. M.;
Kiprotich, Felix;
Muli, Joshua Kiilu;
Rahimi, Mehdi

Publication type:

Article

Two major human phenotypes of MICA molecules and their differential activation to NK cells via NKG2D receptor.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1563872

By:

Luo, Qizhi;
Yin, Xiangli;
Zhu, Quan;
Luo, Weiguang;
Liu, Rongjiao;
Wei, Leiyan;
Zou, Yizhou

Publication type:

Article

MDA5 variants trade antiviral activity for protection from autoimmune disease.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02171-y

By:

Wallace, Chris;
Singh, Rahul;
Modis, Yorgo

Publication type:

Article

Genetics in a Danish Common Variable Immunodeficiency Cohort.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01896-w

By:

Drabe, Camilla Heldbjerg;
Laustsen, Mira Marie;
Marquart, Hanne Vibeke;
Hartling, Hans Jakob;
Marvig, Rasmus L.;
Helweg-Larsen, Jannik;
Hansen, Ann-Brit Eg;
Lundgren, Jens;
Helleberg, Marie;
Borgwardt, Line;
Katzenstein, Terese L.

Publication type:

Article

Genotyping of Clinical Samples of Methicillin‐Resistant Staphylococcus aureus Isolates in Isfahan Using Multilocus Sequence Typing (MLST).

Published in:

Canadian Journal of Infectious Diseases & Medical Microbiology, 2025, v. 2025, p. 1, doi. 10.1155/cjid/7307394

By:

Ahmadi, Yasaman;
Shekarchizadeh, Farnoosh;
Khajavirad, Farnood;
Shekarchizadeh, Afrouz;
Shokri, Dariush;
Marasini, Bishnu P.

Publication type:

Article

Genetic Factors Associated with Posttransplant Diabetes Mellitus (PTDM) in Renal Transplant Patients: A Synthesis of Current Knowledge.

Published in:

Medicina Fluminensis, 2025, v. 61, n. 2, p. 149, doi. 10.21860/medflum2025_330048

By:

Bulić, Luka;
Brenner, Eva;
Cvitić, Marin;
Vareško, Aurora;
Kraljević, Ivana

Publication type:

Article

Latitude-driven adaptive evolution of body length in diverse pig breeds across China.

Published in:

BMC Biology, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12915-025-02265-0

By:

Wang, Yifei;
Feng, Ran;
Hu, Xiao;
Shan, Dai;
Zhang, Xukun;
Gou, Yuwei;
Zheng, Ting;
Li, Yujing;
Fei, Kaixin;
Zhang, Qibin;
Gong, Zhengyin;
Jiang, Yanzhi

Publication type:

Article

Metabolic reaction fluxes as amplifiers and buffers of risk alleles for coronary artery disease.

Published in:

Molecular Systems Biology, 2025, v. 21, n. 6, p. 676, doi. 10.1038/s44320-025-00097-2

By:

Foguet, Carles;
Jiang, Xilin;
Ritchie, Scott C;
Persyn, Elodie;
Xu, Yu;
Ben-Eghan, Chief;
Taylor, Henry J;
Di Angelantonio, Emanuele;
Danesh, John;
Butterworth, Adam S;
Lambert, Samuel A;
Inouye, Michael

Publication type:

Article

Exploring Mobile Genetic Elements in Vibrio choleraeOpen Access.

Published in:

Genome Biology & Evolution, 2025, v. 17, n. 5, p. 1, doi. 10.1093/gbe/evaf079

By:

Dörr, Natália C Drebes;
Lemopoulos, Alexandre;
Blokesch, Melanie

Publication type:

Article

Correlation analysis of mitochondrial DNA maintenance-related genes with HCC prognosis, tumor mutation burden and tumor microenvironment features.

Published in:

PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0325033

By:

Rong, Fan;
Cheng, Bin;
Guo, Ling;
Zeng, Shaobo;
Xu, Xunliang;
Meng, Zhongji

Publication type:

Article

Comparative Phylogenetics Reveal Clade-specific Drivers of Recombination Rate Evolution Across Vertebrates Open Access.

Published in:

Molecular Biology & Evolution, 2025, v. 42, n. 5, p. 1, doi. 10.1093/molbev/msaf100

By:

Szasz-Green, Taylor;
Shores, Katherynne;
Vanga, Vineel;
Zacharias, Luke;
Lawton, Andrew K;
Dapper, Amy L

Publication type:

Article

Genetic Differentiation is Constrained to Chromosomal Inversions and Putative Centromeres in Locally Adapted Populations With Higher Gene Flow Open Access.

Published in:

Molecular Biology & Evolution, 2025, v. 42, n. 5, p. 1, doi. 10.1093/molbev/msaf092

By:

Akopyan, Maria;
Tigano, Anna;
Jacobs, Arne;
Wilder, Aryn P;
Therkildsen, Nina O

Publication type:

Article

Ectopic Gene Conversion Causing Quantitative Trait Variation Open Access.

Published in:

Molecular Biology & Evolution, 2025, v. 42, n. 5, p. 1, doi. 10.1093/molbev/msaf086

By:

Pfalz, Marina;
Naadja, Seïf-Eddine;
Shykoff, Jacqui Anne;
Kroymann, Juergen

Publication type:

Article

Genome-wide insights into selection signatures for transcription factor binding sites in cattle ROH regions.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 541, doi. 10.1007/s00335-025-10113-3

By:

Nayak, Sonali Sonejita;
Panigrahi, Manjit;
Dutt, Triveni

Publication type:

Article