Works matching DE "GENETIC mutation"

Results: 5000

Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1541946

By:

Wang, Chenglin

Publication type:

Article

Nationwide implementation and evaluation of the Tumor‐First workflow for genetic testing in ovarian carcinoma.

Published in:

International Journal of Cancer, 2025, v. 157, n. 3, p. 504, doi. 10.1002/ijc.35440

By:

Witjes, Vera M.;
de Hullu, Joanne A.;
Hermkens, Dorien M. A.;
Smolders, Yvonne H. C. M.;
Swillens, Julie E. M.;
Slob, Sarah‐Lotte;
Bosse, Tjalling;
Mourits, Marian J. E.;
Ausems, Margreet G. E. M.;
Ligtenberg, Marjolijn J. L.;
Hoogerbrugge, Nicoline;
Cillessen, Saskia A.G.M.;
Gille, Johan J.P.;
Komdeur, Fenne L.;
Mom, Constantijne H.;
Snijders, Malou L.H.;
Collée, J. Margriet;
Dubbink, Hendrikus J.;
Groenendijk, Floris H.;
Korpershoek, Esther

Publication type:

Article

Hematologic and molecular responses to ropeginterferon alfa‐2b therapy of polycythemia vera: 48‐week results from a prospective study.

Published in:

International Journal of Cancer, 2025, v. 157, n. 3, p. 526, doi. 10.1002/ijc.35411

By:

Yoon, Seug Yun;
Yoon, Sung‐Soo;
Yang, Deok‐Hwan;
Lee, Gyeong‐Won;
Sohn, Sang Kyun;
Shin, Ho‐Jin;
Bae, Sung Hwa;
Choi, Chul Won;
Choi, Eun‐Ji;
Cheong, June‐Won;
Bang, Soo‐Mee;
Park, Joon Seong;
Oh, Suk Joong;
Park, Yong;
Park, Young Hoon;
Lee, Sung‐Eun

Publication type:

Article

Lung transplantation for interstitial lung disease.

Published in:

Breathe, 2025, v. 21, n. 2, p. 1, doi. 10.1183/20734735.0169-2024

By:

Ronan, Nicola J.;
Helly, Feargal;
Murray, Michelle A.

Publication type:

Article

Comparative analysis of isoxazoline activity on human and canine GABA receptors expressed in Xenopus oocytes.

Published in:

Parasites & Vectors, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13071-025-06847-3

By:

Sager, Heinz;
Sarr, Anouk;
Kuntz, Emmanuelle;
Rufener, Lucien

Publication type:

Article

In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.

Published in:

Biochemical Genetics, 2025, v. 63, n. 3, p. 2489, doi. 10.1007/s10528-024-10836-z

By:

Vetriselvan, Yogesh;
Manoharan, Aarthi;
Murugan, Manoranjani;
Jayakumar, Swetha;
Govindasamy, Chandramohan;
Ravikumar, Sambandam

Publication type:

Article

Lipoic acid in metabolic dysfunction-associated steatotic liver disease: a review.

Published in:

Nutrition & Metabolism, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12986-025-00954-9

By:

Liu, Fangli;
Lv, Jingjing;
Chen, Yuanyuan;
Wang, Linfeng;
Liu, Zhuoxin;
Li, Xingke

Publication type:

Article

PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100037

By:

Yuanfan Yuan;
Qianqian Huang;
Jiehan Zhang;
Zehua Zhou;
Qing Wan;
Lulu Chen;
Tianshu Zeng;
Huiqing Li;
Qiao Zhang;
Xiang Hu

Publication type:

Article

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100033

By:

Leonardi, R.;
Pellino, G.;
Floridia, E.;
Bianco, M. Lo;
Ruggieri, M.;
Cho, S. Y.;
Pavone, V.;
Pavone, P.;
Polizzi, A.

Publication type:

Article

Mutations that prevent phosphorylation of the BMP4 prodomain impair proteolytic maturation of homodimers leading to lethality in mice.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.105018

By:

Hyung-Seok Kim;
Sanchez, Mary L.;
Silva, Joshua;
Schubert, Heidi L.;
Dennis, Rebecca;
Hill, Christopher P.;
Christian, Jan L.

Publication type:

Article

A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03833-x

By:

Zhao, Rong;
Fan, Yali;
Li, Jieyan;
Li, Lin;
Yin, Chenghong

Publication type:

Article

A 6‐year‐old female with synchronous cerebellar and thalamic masses.

Published in:

Brain Pathology, 2025, v. 35, n. 4, p. 1, doi. 10.1111/bpa.70005

By:

Luo, Wenjun;
Sun, Cuiyun;
Jiang, Zhendong;
Zhang, Rongju;
Zhang, Wengao;
Yu, Shizhu

Publication type:

Article

Molecular profile of adult primary leptomeningeal gliomatosis aligns with glioblastoma, IDH‐wildtype.

Published in:

Brain Pathology, 2025, v. 35, n. 4, p. 1, doi. 10.1111/bpa.13326

By:

Zhu, Yi;
Carabenciov, Darin D.;
Johnson, Derek R.;
Trejo‐Lopez, Jorge A.;
Nguyen, Aivi T.;
Raghunathan, Aditya;
Lanzino, Giuseppe;
Ida, Cristiane M.;
Zepeda‐Mendoza, Cinthya J.;
Dasari, Surendra;
Russler‐Germain, Emilie;
Dahiya, Sonika;
Quezado, Martha;
Aldape, Kenneth;
Giannini, Caterina

Publication type:

Article

Astragalus polysaccharide protects against cardiac injury in a tnnt2a mutant zebrafish model of dilated cardiomyopathy.

Published in:

BMC Complementary Medicine & Therapies, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12906-025-04925-8

By:

Zhou, Chang;
Zhao, Hui;
Peng, Longping;
Dong, Yidan;
Wu, Qiong;
Wang, Xu;
Xu, Yingjia;
Wang, Youhua

Publication type:

Article

Diploidy confers genomic instability in Schizosaccharomyces pombeOpen Access.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf078

By:

Park, Joshua M;
Pinski, Daniel F;
Forsburg, Susan L

Publication type:

Article

Improved sampling of genotypes and species reveals new insights on de novo gene history and regulatory origins.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf074

By:

Blair, Logan K;
Cridland, Julie M;
Luo, Yige;
Begun, David J;
Kopp, Artyom

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

Pairing between homologous sequences on the X and chromosome 3 in Drosophila male meiosis.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf059

By:

Hylton, Christopher A;
Hansen, Katie;
Dean, John E Tomkiel

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

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.

Published in:

Acta Paediatrica, 2025, v. 114, n. 7, p. 1720, doi. 10.1111/apa.70029

By:

Zhan, Shumin;
He, Qin;
Yuan, Jinna;
Xu, Xiaoqin;
Huang, Ke;
Dong, Guanping;
Fu, Junfen;
Wu, Dingwen;
Wu, Wei

Publication type:

Article

Analysis of the differences in immune indexes of common gene mutations and 5q- chromosome karyotype mutations in MDS.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02845-0

By:

Zheng, Hanxue;
Meng, Zilu;
Zhang, Liansheng;
Li, Lijuan

Publication type:

Article

Siblings With Abnormal Thyroid Function Tests.

Published in:

Clinical Pediatrics, 2025, v. 64, n. 7, p. 1037, doi. 10.1177/00099228241304511

By:

Gornisiewicz, Savanna;
Kessler, Aleeza;
Dayton, Kristin

Publication type:

Article

A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 274, doi. 10.1159/000538388

By:

Tanaka, Hiroyuki;
Tamura, Mayuko;
Muto, Mirai;
Kinoshita, Yuka;
Ito, Nobuaki;
Oka, Akira;
Kitanaka, Sachiko

Publication type:

Article

A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 282, doi. 10.1159/000536621

By:

Pugnaloni, Flaminia;
Martini, Ludovica;
De Rose, Domenico Umberto;
Landolfo, Francesca;
Giliberti, Paola;
Ruta, Rosario;
Novelli, Antonio;
Rapini, Novella;
Barbetti, Fabrizio;
Toscano, Alessandra;
Conforti, Andrea;
Bagolan, Pietro;
Capolupo, Irma;
Dotta, Andrea

Publication type:

Article

Identification and segregation of genes with improved recurrent neural network trained with optimal gene level and mutation level features.

Published in:

Computer Methods in Biomechanics & Biomedical Engineering, 2025, v. 28, n. 8, p. 1111, doi. 10.1080/10255842.2024.2311322

By:

Pukhta, Irfan Rashid;
Rout, Ranjeet Kumar

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

DR SPUR'S MYSTERY CASE.

Published in:

Current Allergy & Clinical Immunology, 2025, v. 38, n. 2, p. 118

By:

van den Berg, Sylvia;
Brauer, Marieke;
van Niekerk, André

Publication type:

Article

Identification of Two Subtypes with Distinct Immune Features in Lung Adenocarcinoma by Utilizing Immune and Metabolism-Related Genes to Assist Immunotherapy.

Published in:

Tohoku Journal of Experimental Medicine, 2025, v. 266, n. 1, p. 1, doi. 10.1620/tjem.2024.J086

By:

Mengna Wang;
Hongbo Xia

Publication type:

Article

Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis.

Published in:

Fetal Diagnosis & Therapy, 2025, v. 52, n. 3, p. 280, doi. 10.1159/000543190

By:

Charach, Ron;
Pérez-Cruz, Míriam;
Masoller, Narcis;
Illa, Míriam;
Monterde, Elena;
Martínez-Crespo, Josep Maria;
Borrell, Antoni;
Gómez-Chiari, Marta;
Rebollo-Polo, Mónica;
Borregan, Mar;
Gómez, Olga;
Eixarch, Elisenda

Publication type:

Article

Structural and dynamic impacts of single-atom disruptions to guide RNA interactions within the recognition lobe of Geobacillus stearothermophilus Cas9.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.99275

By:

Belato, Helen B.;
Knight, Alexa L.;
D'Ordine, Alexandra M.;
Pindi, Chinmai;
Zhiqiang Fan;
Jinping Luo;
Palermo, Giulia;
Jogl, Gerwald;
Lisi, George P.

Publication type:

Article

Unraveling Burden of Isocitrate Dehydrogenase Mutations in Acute Myeloid Leukemia; Clinico-Hematological Correlation and Prognostic Relevance.

Published in:

2025

By:

Abbas, S.Hina;
Ujjan, Ikram din;
Hassan, Jawad;
Anwar, Nida

Publication type:

Case Study

Abnormal CHD4 and ZMYM3 gene variants - case report.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, p. 112

By:

Gunia, Katarzyna;
Pyrkosz, Antoni

Publication type:

Article

A patient with dysmorphic features and spastic paraparesis of the lower extremities with mutations of GRID2 and SETX genes.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, p. 111

By:

Nyankovska, Yana;
Pyrkosz, Antoni

Publication type:

Article

Advancing Precision Oncology: Whole-Exome Sequencing in Endometrial Cancer Liquid-Based Cytology.

Published in:

Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 6, p. 561, doi. 10.5858/arpa.2024-0137-OA

By:

Reika Takamatsu;
Kohei Nakamura;
Tatsuyuki Chiyoda;
Kosuke Tsuji;
Ryutaro Kawano;
Naoki Yoshimi;
Wataru Yamagami;
Hiroshi Nishihara

Publication type:

Article

Analytical and Clinical Validation of the Oncomine Dx Target Test to Assess HER2 Mutation Status in Tumor Tissue Samples From Patients With Non-Small Cell Lung Cancer Treated With Trastuzumab Deruxtecan in the DESTINY-Lung01 and DESTINY-Lung02 Studies.

Published in:

Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 6, p. 542, doi. 10.5858/arpa.2024-0014-OA

By:

Zhenhao Qi;
Ha, Thomas;
Wenqin Feng;
Karnoub, Maha;
Pereira, Kaline;
Ryota Shiga;
Smit, Egbert F.;
Yasushi Goto;
De Langen, Adrianus Johannes;
Koichi Goto;
Velasco Roth, Anne Marie;
Khambata-Ford, Shirin

Publication type:

Article

Emerging Plasmodium falciparum K13 gene mutation to artemisinin-based combination therapies and partner drugs among malaria-infected population in sub-Saharan Africa.

Published in:

Parasites, Hosts & Diseases, 2025, v. 63, n. 2, p. 109, doi. 10.3347/PHD.24053

By:

Oyegbade, Samuel Adeniyi;
Mameh, Emmanuel Ojochegbe;
Balogun, Daniel Oluwatobiloba;
Aririguzoh, Victoria-Grace Onyekachi;
Akinduti, Paul Akinniyi

Publication type:

Article

VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

Published in:

Rheumatology, 2025, v. 64, n. 6, p. 3747, doi. 10.1093/rheumatology/keaf094

By:

García-Escudero, Paula;
López-Gómez, Marta;
López, Berta Magallares;
Dorta, Alicia García;
Frade-Sosa, Beatriz;
Lizarzaburu, Meritxell Sallés;
Rúa-Figueroa, Íñigo;
Fiallo, Dolly Viviana;
Miera, Francisco Javier Toyos Sáenz de;
Melero-Gonzalez, Rafael Benito;
Santos, Diego Dios;
Miranda, José Alberto;
Belando, Clara García;
Boselli, Giuliano;
Boteanu, Alina Lucica;
Villalobos, Lourdes;
Selaya, Cristina Corrales;
Santos, Cristiana Sieiro;
Álvarez, Elvira Díez;
Font, Judit

Publication type:

Article

Comment on: Comparing clinical features between males and females with VEXAS syndrome: data from literature analysis of patient reports: Reply.

Published in:

Rheumatology, 2025, v. 64, n. 6, p. 4091, doi. 10.1093/rheumatology/keae619

By:

Lacombe, Valentin;
Echerbault, Robin;
Bourguiba, Rim;
Georgin-Lavialle, Sophie

Publication type:

Article

Comment on: Comparing clinical features between males and females with VEXAS syndrome: data from literature analysis of patient reports.

Published in:

2025

By:

Yazici, Yusuf

Publication type:

Letter to the Editor

Vasculitis associated with VEXAS syndrome Open Access.

Published in:

Rheumatology, 2025, v. 64, n. 6, p. 3889, doi. 10.1093/rheumatology/keae550

By:

Sullivan, Megan M;
Mead-Harvey, Carolyn;
Sartori-Valinotti, Julio C;
Kalantari, Kambiz;
Kusne, Yael N;
Patnaik, Mrinal M;
Mangaonkar, Abhishek A;
Go, Ronald S;
Montes, Daniel;
Reichard, Kaaren K;
Olteanu, Horatiu;
Bois, Melanie C;
Hines, Alexander S;
Warrington, Kenneth J;
Koster, Matthew J

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

Heartbeat signature for predicting motor and non-motor involvement among nonparkinsonian LRRK2 G2019S mutation carriers.

Published in:

Clinical Autonomic Research, 2025, v. 35, n. 3, p. 407, doi. 10.1007/s10286-024-01104-6

By:

Carricarte Naranjo, Claudia;
Marras, Connie;
Visanji, Naomi P.;
Cornforth, David J.;
Sanchez‑Rodriguez, Lazaro;
Schüle, Birgitt;
Goldman, Samuel M.;
Estévez, Mario;
Stein, Phyllis K.;
Jelinek, Herbert F.;
Lang, Anthony E.;
Machado, Andrés

Publication type:

Article

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.

Published in:

BJU International, 2025, v. 135, n. 5, p. 792, doi. 10.1111/bju.16620

By:

Axelsson, Tomas Andri;
Sydén, Filip;
Eisfeldt, Jesper;
Eriksson, Ylva;
Lundberg, Gustav Göthner;
Jaremko, Georg;
Gyllensten, Ollanta Cuba;
Tham, Emma;
Brehmer, Marianne

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

Emergence and Spread of Clostridioides difficile Isolates With Reduced Fidaxomicin Susceptibility in an Acute Care Hospital.

Published in:

Clinical Infectious Diseases, 2025, v. 80, n. 5, p. 984, doi. 10.1093/cid/ciaf028

By:

Redmond, Sarah N;
Cadnum, Jennifer L;
Jencson, Annette L;
Kaple, Claire E;
Wilson, Brigid M;
Skinner, Andrew M;
Gargis, Amy S;
Hwang, Munok;
Choi, Hosoon;
Chatterjee, Piyali;
Jinadatha, Chetan;
Donskey, Curtis J

Publication type:

Article

Clinical Characterization and Outcomes of Human Clade IIb Mpox Virus Disease: A European Multicenter Mpox Observational Cohort Study (MOSAIC) Open Access.

Published in:

Clinical Infectious Diseases, 2025, v. 80, n. 5, p. 1060, doi. 10.1093/cid/ciae657

By:

Pesonel, Elise;
Laouénan, Cédric;
Guiraud, Laetitia;
Bourner, Josephine;
Hoffmann, Isabelle;
Molino, Diana;
Tardivon, Coralie;
Bachelet, Delphine;
Mentré, France;
Amstutz, Alain;
Merson, Laura;
Rojek, Amanda;
Gonzalez, Minerva Cervantes;
Antinori, Andrea;
Castagna, Antonella;
Nozza, Silvia;
Pourcher, Valérie;
Libois, Agnès;
Dunning, Jake;
Tacconelli, Evelina

Publication type:

Article

Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations.

Published in:

European Journal of Endocrinology, 2025, v. 192, n. 5, p. K38, doi. 10.1093/ejendo/lvaf094

By:

Helvacioglu, Didem;
Canbaz, Aylin Tugba;
Tekmenuray-Unal, Aysel;
Ada, Yasin;
Yapici, Ozge;
Genc, Emine;
Kilavuz, Sebile;
Tosun, Busra Gurpinar;
Hismi, Burcu Ozturk;
Guran, Tulay

Publication type:

Article

Primary adrenal insufficiency in patients with CPOX gene mutations.

Published in:

European Journal of Endocrinology, 2025, v. 192, n. 5, p. K31, doi. 10.1093/ejendo/lvaf089

By:

Kelestemur, Elif;
Yarar, Murat Hakki;
Tosun, Busra Gurpinar;
Karaca, Meryem;
Goler, Ayse Mine Yilmaz;
Yilmaz, Betul Karademir;
Yapici, Ozge;
Gokcay, Gulden;
Guran, Tulay

Publication type:

Article

Sexual dimorphism in benign adrenocortical tumours Open Access.

Published in:

European Journal of Endocrinology, 2025, v. 192, n. 5, p. R1, doi. 10.1093/ejendo/lvaf088

By:

Suntornlohanakul, Onnicha;
Ronchi, Cristina L;
Arlt, Wiebke;
Prete, Alessandro

Publication type:

Article