Works matching DE "GENES"

Results: 5000

CLIC1 Supports Mechanisms Related to Platelet Activation and Thrombosis.

Published in:

Transfusion Medicine & Hemotherapy, 2025, v. 52, n. 3, p. 178, doi. 10.1159/000544115

By:

Knowles, Lynn M.;
Ampofo, Emmanuel;
Menger, Michael D.;
Drawz, Anna;
Eichler, Hermann;
Pilch, Jan

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

An Uncharacterized Domain Within the N‐Terminal Tail of Histone H3 Regulates the Transcription of FLO1 via Cyc8.

Published in:

Molecular Microbiology, 2025, v. 123, n. 6, p. 547, doi. 10.1111/mmi.15362

By:

Singh, Ranu;
Tomar, Raghuvir Singh

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

The pathogenic role of calcitonin gene‐related peptide and predictors of new‐onset migraine and long‐term outcomes after transcatheter atrial septal defect closure.

Published in:

Headache: The Journal of Head & Face Pain, 2025, v. 65, n. 5, p. 791, doi. 10.1111/head.14885

By:

Su, Tzu‐Hsuan;
Wang, Jou‐Kou;
Kuo, Ping‐Hung;
Chang, Shu‐Hui;
Chiou, Lih‐Chu;
Lee, Wang‐Tso;
Fan, Pi‐Chuan

Publication type:

Article

Causal relationships between alterations in shear stress-related genes and aneurysmal subarachnoid hemorrhage.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03784-3

By:

Wu, Xiaoxin;
Dai, Yuanyuan;
Niu, Xingyang;
Zhang, Minghao;
Li, Jiaoxing;
Xie, Yi;
Sheng, Wenli;
Ye, Fei

Publication type:

Article

Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 705, doi. 10.1111/cge.14725

By:

Essid, Miriam;
Karoui, Sana;
Zribi, Mouna;
Ben Younes, Thouraya;
Januel, Louis;
Lafont, Estelle;
Labalme, Audrey;
Ben Hafsa, Meriem;
Hun Seo, Go;
Khatrouch, Safa;
Boudabous, Hela;
Ben Chehida, Amel;
Sanlaville, Damien;
Jilani, Houweyda;
Benjemaa, Lamia;
Kraoua, Ichraf;
Lesca, Gaetan;
Chatron, Nicolas

Publication type:

Article

Digenic Inheritance of Monoallelic MUTYH and POLE Germline Variants in Adrenocortical Carcinoma: Implications for Tumorigenesis and Immunotherapy.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 699, doi. 10.1111/cge.14721

By:

Lopez, Jonathan;
Buisson, Adrien;
Ounnas, Adel;
Tachon, Gaelle;
Viari, Alain;
De Fraipont, Florence;
Albuisson, Juliette;
Barritault, Marc;
Bringuier, Pierre‐Paul;
Feugeas, Jean‐Paul;
Mc Leer, Anne;
Bouras, Ahmed

Publication type:

Article

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 646, doi. 10.1111/cge.14701

By:

Trujillano, Laura;
Valenzuela, Irene;
Costa‐Roger, Mar;
Cuscó, Ivon;
Fernandez‐Alvarez, Paula;
Cueto‐González, Anna;
Lasa‐Aranzasti, Amaia;
Masotto, Bárbara;
Abulí, Anna;
Codina‐Solà, Marta;
del Campo, Miguel;
Ruiz Moreno, Juan Antonio;
Pardo Domínguez, Cristina;
Palma Milla, Carmen;
Pérez de la Fuente, Rubén;
Quesada‐Espinosa, Juan Francisco;
Núñez‐Enamorado, Noemí;
Gener, Blanca;
Ballesta‐Martínez, María Juliana;
Brea‐Fernández, Alejandro J.

Publication type:

Article

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver–Russell Syndrome and Intellectual Disability.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 694, doi. 10.1111/cge.14699

By:

de Souza, Vanessa Sodré;
Wawruk, Halinna Dornelles;
Mehrjouy, Mana M.;
Bak, Mads;
da Cunha, Gabriela Corassa Rodrigues;
Gonçalves, Ana Caroline Gabriel;
Cordoba, Mara Santos;
Tommerup, Niels;
Mazzeu, Juliana F.

Publication type:

Article

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 636, doi. 10.1111/cge.14697

By:

Frazier, Zoë J.;
Kilic, Seyda;
Osika, Hailey;
Mo, Alisa;
Quinn, Meg;
Ballal, Sonia;
Katz, Tamar;
Shearer, A. Eliot;
Horlbeck, Max A.;
Pais, Lynn S.;
Dies, Kira A.;
O'Donnell‐Luria, Anne;
Kossowsky, Joe;
Lipton, Jonathan O.;
Kleefstra, Tjitske;
Srivastava, Siddharth

Publication type:

Article

Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 680, doi. 10.1111/cge.14696

By:

Zhang, Changlong;
Zhao, Shuai;
Zhang, Honghui;
Su, Wei;
Wang, Yang;
Cui, Ying;
Yang, Bohan;
Wang, Yikun;
Zhao, Han

Publication type:

Article

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 668, doi. 10.1111/cge.14690

By:

Morais, Sara;
Leal Loureiro, José;
Brandão, Eva;
Sequeiros, Jorge;
Stevanin, Giovanni;
Santos, Mariana

Publication type:

Article

A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 663, doi. 10.1111/cge.14685

By:

Silva, Sebastián;
Venegas, Viviana;
Valenzuela, Marcela;
Retamales‐Moreno, Álvaro;
Muñoz‐Castro, Carolina;
Acevedo, Hernán;
Marengo, Juan‐José;
Okubo, Mariko;
Takada, Sanami;
Miyake, Noriko

Publication type:

Article

Research Progress on Embryonic Development, Genetic Regulation and Clinical Management of Congenital Middle Ear Malformations.

Published in:

Flavour & Fragrance Journal, 2025, v. 40, n. 3, p. 393, doi. 10.1002/ffj.3836

By:

Gao, Xiaochen;
Li, Chengzhilin;
Yuan, Fanyu;
Cao, Xue;
Liu, Chengcheng;
Qi, Wenwen;
Xie, Fengyang;
Xia, Ming

Publication type:

Article

Genome-wide identification and characterisation of the glycoside hydrolase gene family in Penicillium expansum.

Published in:

New Zealand Journal of Crop & Horticultural Science, 2025, v. 53, n. 3, p. 587, doi. 10.1080/01140671.2025.2481686

By:

Wang, Kaili;
Pan, Tengxia;
Song, Yusi;
Chen, Hongbin;
Wang, Hua;
Ackah, Michael;
Godana, Esa Abiso;
Yang, Qiya;
Zhang, Hongyin

Publication type:

Article

Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100010

By:

Moura Raftopoulos, Karolyne Michele;
Nascimento Chiang, Fernanda Sousa;
de Melo Gama, Lorena;
Farage, Luciano;
Neves Medina, Cristina Touguinha

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

In vitro activity of ceftazidime-avibactam and meropenemvaborbactam against carbapenem-resistant Enterobacterales in Egyptian Hospitals: A challenge for clinical practice.

Published in:

Microbes & Infectious Diseases, 2025, v. 6, n. 2, p. 752, doi. 10.21608/MID.2024.323549.2247

By:

ElFeky, Dalia Saad;
Awad, Alaa Reda;
Raafat Hamed, Reham Mohammad;
Baddour, Manal Mohamed;
Mowafy, Hagar Lotfy

Publication type:

Article

Correction to: Season-specific dominance broadly stabilizes polymorphism under symmetric and asymmetric multivoltinism Free.

Published in:: 2025
Publication type:: Correction Notice

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

Parameters that influence bipartite reporter system expression in Caenorhabditis elegans.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf076

By:

Knoebel, Emma;
Brinck, Anna;
Nonet, Michael 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

Causal network inference of cis- and trans-gene regulation of expression quantitative trait loci across human tissues.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf064

By:

Kvamme, Jarred;
Badsha, Md Bahadur;
Martin, Evan A;
Wu, Jiayu;
Wang, Xiaoyue;
Fu, Audrey Qiuyan

Publication type:

Article

Identification of regions required for allelic specificity at the cell wall remodeling allorecognition checkpoint in Neurospora crassaOpen Access.

Published in:

Genetics, 2025, v. 230, n. 2, p. 1, doi. 10.1093/genetics/iyaf062

By:

Rico-Ramirez, Adriana M;
Glass, N Louise

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

FTO Aggravates the Infiltration of Inflammatory Cells and Pulmonary Fibrosis in Silicosis Though Inducing the Imbalance of Macrophages Polarization.

Published in:

Microbiology & Immunology, 2025, v. 69, n. 6, p. 339, doi. 10.1111/1348-0421.13216

By:

Fan, Jian‐min;
Zhang, Xu

Publication type:

Article

Targeting NLRC4 for potential therapeutic strategies in lung adenocarcinoma.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02839-y

By:

Xu, Xue;
Zhang, Meng-Yu;
Fan, Jia-Qi;
Li, Guo-Dong;
Li, Jun-Yi;
Chen, Xiao

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

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

Mir-509-3p targets SLC25A13 to regulate ferroptosis and protect retinal endothelial cells in diabetic retinopathy.

Published in:

Acta Diabetologica, 2025, v. 62, n. 6, p. 831, doi. 10.1007/s00592-024-02400-3

By:

Ren, Meiqing;
Xu, Qian;
Luan, Jie;
Ni, Yan;
Xie, Bo

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

Genetic factors predisposing to atopic dermatitis: selected genes related to the skin barrier and immune response.

Published in:

Polish Journal of Allergology / Alergologia Polska, 2025, v. 12, n. 2, p. 126, doi. 10.5114/pja.2025.151305

By:

Nowak, Tomasz;
Cieśla, Dominika

Publication type:

Article

Immunotherapies versus small-molecule therapies of cancers with RAS oncogene mutations.

Published in:

Polish Journal of Allergology / Alergologia Polska, 2025, v. 12, n. 2, p. 111, doi. 10.5114/pja.2025.148075

By:

Rieske, Piotr

Publication type:

Article

Hedgehog Signaling during Gut Formation in the Freshwater Leech, Helobdella austinensis.

Published in:

Cells Tissues Organs, 2025, v. 214, n. 3, p. 194, doi. 10.1159/000543782

By:

Medina-Jiménez, Brenda I.;
Kwak, Hee-Jin;
Aryal, Yam Prasad;
Lee, Chan-Jun;
Jeong, Geon-Hwi;
Pyo, In-Hyeok;
Park, Hyeonwoo;
Kim, Sangjune;
Park, Soon Cheol;
Cho, Sung-Jin

Publication type:

Article

HNF4α-TET2- FBP1 axis contributes to gluconeogenesis and type 2 diabetes.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.103663

By:

Hongchen Li;
Xinchao Zhang;
Xiaoben Liang;
Shuyan Li;
Ziyi Cui;
Xinyu Zhao;
Kai Wang;
Bingbing Zha;
Haijie Ma;
Ming Xu;
Lei Lv;
Yanping Xu

Publication type:

Article

Post-fertilization transcription initiation in an ancestral LTR retrotransposon drives lineage- specific genomic imprinting of ZDBF2.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.94502

By:

Hisato Kobayashi;
Tatsushi Igaki;
Soichiro Kumamoto;
Keisuke Tanaka;
Tomoya Takashima;
Nagaoka, So I.;
Shunsuke Suzuki;
Masaaki Hayashi;
Renfree, Marilyn B.;
Manabu Kawahara;
Shun Saito;
Toshihiro Kobayashi;
Hiroshi Nagashima;
Hitomi Matsunari;
Kazuaki Nakano;
Ayuko Uchikura;
Hiroshi Kiyonari;
Mari Kaneko;
Hiroo Imai;
Kazuhiko Nakabayashi

Publication type:

Article

Inhibition of mitochondrial protein import and proteostasis by a pro-apoptotic lipid.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.93621

By:

Fita-Torró, Josep;
Garrido-Huarte, José Luis;
López-Gil, Lucía;
Michel, Agnès H.;
Kornmann, Benoit;
Pascual-Ahuir, Amparo;
Proft, Markus

Publication type:

Article

Identification of a Risk Allele at SLC41A3 and a Protective Allele HLA-DPB1*02:01 Associated with Sarcopenia in Japanese.

Published in:

Gerontology, 2025, v. 71, n. 5, p. 376, doi. 10.1159/000545298

By:

Furutani, Motoki;
Kimura, Tetsuaki;
Fukunaga, Koya;
Suganuma, Mutsumi;
Takemura, Marie;
Matsui, Yasumoto;
Satake, Shosuke;
Nakano, Yukiko;
Mushiroda, Taisei;
Niida, Shumpei;
Ozaki, Kouichi;
Hosoyama, Tohru;
Shigemizu, Daichi

Publication type:

Article

High-Throughput Hybridization Assay as First-Line Diagnostic Test for Sarcomas: Clinical Assessment in a Tertiary Referral Center.

Published in:

Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 6, p. 511, doi. 10.5858/arpa.2024-0202-OA

By:

Salguero-Aranda, Carmen;
Perez, Marco;
Vargas-Padilla, María Victoria;
Beltrán-Povea, Amparo;
Delgado-Bellido, Daniel;
Marcilla, David;
Civantos, Gema;
de Álava, Enrique;
Díaz-Martín, Juan

Publication type:

Article

Multifactorial etiology of progressive supranuclear palsy (PSP): the genetic component.

Published in:

Acta Neuropathologica, 2025, v. 149, n. 1, p. 1, doi. 10.1007/s00401-025-02898-z

By:

Müller, Ulrich;
Höglinger, Günter;
Dickson, Dennis W.

Publication type:

Article

Impact of a Missense Mutation in TRAPPC12 in Patients with Progressive Encephalopathy, Brain Atrophy and Spasticity Phenotype without Microcephaly and Epilepsy.

Published in:

Experimed, 2025, v. 15, n. 1, p. 41, doi. 10.26650/experimed.1584823

By:

Goncu, Beyza;
Sayin, Gozde Yesil;
Aslanger, Ayca Dilruba;
Yucesan, Emrah

Publication type:

Article

HNRNPH1 promotes autophagy to inhibit the development of lung adenocarcinoma via the HSP90AB1/MAP1LC3B axis.

Published in:

Respiratory Research, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12931-025-03280-z

By:

Li, Rong;
Li, Fen;
Liu, Qian;
Wu, Xu;
Tan, Xiaowu

Publication type:

Article

The lactylation–immune regulatory axis: a potential therapeutic target for migraine prevention and treatment.

Published in:

Journal of Headache & Pain, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s10194-025-02075-3

By:

Wang, Liu;
Lan, Zhixuan;
He, Ying;
Cheng, Yue;
He, Ruilin;
Jiang, Zongbin

Publication type:

Article

Effect of Osteogenic Genes Expression on Bone Tissue Treatment; an Engineered Animal Model.

Published in:

Iranian Journal of War & Public Health, 2025, v. 17, n. 1, p. 43, doi. 10.58209/ijwph.17.1.43

By:

Dhiya, A.;
Ghasem Kashani, M. Haji;
Osamah, N. W.;
Salehi, M.;
Manouchehri, B.;
Elaheh, A.

Publication type:

Article

Correction: Study of the population genetic structure of Opisthorchis-like eggs in northern Thailand using mitochondrial genes.

Published in:

2025

By:

Suwannahitatorn, Picha;
Mungthin, Mathirut;
Subrungruang, Ittisak;
Charoensuk, Lakhanawan;
Aksorn, Nithikoon;
Buathong, Saiwasan

Publication type:

Correction Notice

Dynamic changes in gene expression through aging in Drosophila melanogaster heads Open Access.

Published in:

G3: Genes | Genomes | Genetics, 2025, v. 15, n. 4, p. 1, doi. 10.1093/g3journal/jkaf039

By:

Hanson, Katherine M;
Macdonald, Stuart J

Publication type:

Article