Works matching DE "GENES"

Results: 5000

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

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

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

De novo whole-genome assembly of the critically endangered southern muriqui (Brachyteles arachnoides) Open Access.

Published in:

G3: Genes | Genomes | Genetics, 2025, v. 15, n. 4, p. 1, doi. 10.1093/g3journal/jkaf034

By:

Faulk, Christopher;
Walls, Carrie;
Nelson, Brandie;
Arakaki, Paloma R;
Gonzalez, Irys H L;
Banevicius, Nancy;
Teixeira, Rodrigo H F;
Medeiros, Marina A;
Silva, Gessiane P;
Talebi, Mauricio;
Chung, Wilson C J;
Takeshita, Rafaela S C

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

Monitoring the KMT2A gene post‐chemotherapy independently predicts the relapse and survival risk after allogeneic haematopoietic stem cell transplantation.

Published in:

British Journal of Haematology, 2025, v. 206, n. 5, p. 1418, doi. 10.1111/bjh.20036

By:

Liu, Jing;
Zhao, Xiao‐Su;
Chang, Ying‐Jun;
Qin, Ya‐Zhen;
Jiang, Qian;
Jiang, Hao;
Zhang, Xiao‐Hui;
Xu, Lan‐Ping;
Wang, Yu;
Lv, Meng;
Liu, Kai‐Yan;
Huang, Xiao‐Jun;
Zhao, Xiang‐Yu

Publication type:

Article

The IKZF1 N159S mutation is associated with poor outcome and a distinct molecular profile in adult patients with AML.

Published in:

British Journal of Haematology, 2025, v. 206, n. 5, p. 1373, doi. 10.1111/bjh.20027

By:

Stasik, Sebastian;
Eckardt, Jan‐Niklas;
Röllig, Christoph;
Baldus, Claudia D.;
Platzbecker, Uwe;
Serve, Hubert;
Müller‐Tidow, Carsten;
Schäfer‐Eckart, Kerstin;
Kaufmann, Martin;
Krause, Stefan W.;
Sauer, Tim;
Hänel, Mathias;
Neubauer, Andreas;
Ehninger, Gerhard;
Bornhäuser, Martin;
Schetelig, Johannes;
Middeke, Jan M.;
Thiede, Christian

Publication type:

Article

Response to a novel type II RAF inhibitor in diffuse leptomeningeal glioneuronal tumor with BRAF fusion.

Published in:

Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf093

By:

Chun, Brie M;
Youngworth, Sandra;
Abtin, Vicki;
Stull, David;
Starkey, Jay;
Kummar, Shivaani

Publication type:

Article

Identification of novel susceptibility loci for testicular germ cell tumors through multi-omics analysis.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02775-x

By:

Xu, Yuangao;
Shi, Hua;
Xiong, Jieyu;
Wu, Yikun;
Wu, Xiaoyu;
Xu, Yuanbo;
Wang, Yuanlin;
Xu, Shuxiong

Publication type:

Article

Relation between Alzheimer's type dementia and GDNF-AS1 gene polymorphisms.

Published in:

Medicine Science, 2025, v. 14, n. 2, p. 482, doi. 10.5455/medscience.2025.02.040

By:

Dondu, Ayse;
Boyacioglu, Seda Orenay

Publication type:

Article

Desbuquois dysplasia and cardiovascular complications: a retrospective cohort study.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 7, p. 1, doi. 10.1007/s00431-025-06231-4

By:

Öztürk, Musa;
Türk, Merve Tanrısever;
Demir, Gizem Ürel;
Ütine, Gülen Eda;
Ertuğrul, İlker;
Aypar, Ebru;
Karagöz, Tevfik;
Alehan, Dursun;
Kiper, Pelin Özlem Şimşek;
Aykan, Hayrettin Hakan

Publication type:

Article

A novel PNP variant causes lymphopenia, hypouricemia and neurological deficit.

Published in:

Paediatrica Indonesiana, 2025, v. 65, n. 2, p. 171, doi. 10.14238/pi65.2.2025.171-8

By:

Abd Hamid, Intan Juliana;
Bee Chin Chen;
Huey Yin Leong;
Yusnita Yakob;
Abd Azize, Nor Azimah;
Mohd Khalid, Mohd Khairul Nizam;
Gaik Siew Ch'ng;
Wee Teik Keng;
Lock Hock Ngu

Publication type:

Article

Role of single‐nucleotide polymorphism microarray in the classification of BAP1‐inactivated melanocytic tumours.

Published in:

Histopathology, 2025, v. 87, n. 1, p. 110, doi. 10.1111/his.15434

By:

Durgin, Joseph S.;
Zoumberos, Nicholas A.;
Novice, Taylor;
Fullen, Douglas R.;
Hristov, Alexandra C.;
Lowe, Lori;
Patel, Rajiv M.;
Harms, Paul W.;
Andea, Aleodor A.;
Bresler, Scott C.

Publication type:

Article

Yield of Hearing Loss Gene Panel and Audiometric Findings in a Retrospective Cohort of Children With Permanent Childhood Hearing Impairment.

Published in:

Clinical Otolaryngology, 2025, v. 50, n. 4, p. 780, doi. 10.1111/coa.14316

By:

Kulkarni, Alpana M.;
Majeithia, Henna;
Busby, Louise

Publication type:

Article

Multi-omics unveils BCAA metabolism markers L-leucine and HMGCS1 as prognostic marker for immunotherapy efficacy in non-small cell lung cancer.

Published in:

Respiratory Research, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12931-025-03277-8

By:

Dai, Liyuan;
Wang, Xinzheng;
Lou, Ning;
Li, Lin;
Huang, Liling;
Tang, Le;
Yao, Jiarui;
Shi, Yuankai;
Han, Xiaohong

Publication type:

Article

Comprehensive genome-wide identification and expression analysis of the EPF/EPFL gene family in oat.

Published in:

BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11585-y

By:

Jiang, Qingxue;
Ma, Lin;
Guo, Siyuan;
Zhou, Xinyue;
Zhang, Zhipeng;
Cui, Yanhong;
Tang, Jun;
Yi, Dengxia;
Wang, Xuemin

Publication type:

Article

SC2Spa: a deep learning based approach to map transcriptome to spatial origins at cellular resolution.

Published in:

BMC Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12859-025-06173-6

By:

Liao, Linbu;
Madan, Esha;
Palma, António M.;
Kim, Hyobin;
Kumar, Amit;
Bhoopathi, Praveen;
Winn, Robert;
Trevino, Jose;
Fisher, Paul;
Brakebusch, Cord Herbert;
Kim, Gahyun;
Kim, Junil;
Gogna, Rajan;
Won, Kyoung Jae

Publication type:

Article

SARS-CoV-2 infection of human cortical cells is influenced by the interaction between aneuploidy and biological sex: insights from a Down syndrome in vitro model.

Published in:

Acta Neuropathologica, 2025, v. 149, n. 1, p. 1, doi. 10.1007/s00401-025-02895-2

By:

Lioudyno, Maria I.;
Sevrioukov, Evgueni A.;
Olivarria, Gema M.;
Hitchcock, Lauren;
Javonillo, Dominic I.;
Campos, Sydney M.;
Rivera, Isabel;
Wright, Sierra T.;
Head, Elizabeth;
Fortea, Juan;
Wisniewski, Thomas;
Cuello, A. Claudio;
Do Carmo, Sonia;
Lane, Thomas E.;
Busciglio, Jorge

Publication type:

Article

甘肃临洮地区绵羊捻转血矛线虫病流行情况及系统发育分析.

Published in:

China Herbivore Science, 2025, v. 45, n. 3, p. 106, doi. 10.3969/j.issn.2095-3887.2024.00.090

By:

李永光;
盖文燕;
郑小红;
吴耀辉;
雒和静;
王筠茹

Publication type:

Article

喀什地区绵羊品种中多羔主效基因 FecB 的分布.

Published in:

China Herbivore Science, 2025, v. 45, n. 3, p. 97, doi. 10.3969/j.issn.2095-3887.2024.00.085

By:

贺小云;
肖国亮;
储明星

Publication type:

Article

A Japanese case of VEXAS syndrome after COVID-19 vaccination: Comparison with previously reported cases.

Published in:

Modern Rheumatology Case Reports, 2025, v. 9, n. 1, p. 218, doi. 10.1093/mrcr/rxae054

By:

Yui Miyagi;
Hiroshi Kobayashi;
Yoshihiro Umebayashi;
Akira Okimura;
Munehide Nakatsugawa;
Ayaka Maeda;
Yohei Kirino;
Akiko Aoki

Publication type:

Article

Zinc Treatment Effects on the Expression of Enzyme Genes Related to Lysine Synthesis Pathway in Flammulina filiformis Mycelia.

Published in:

Agronomy, 2025, v. 15, n. 5, p. 1107, doi. 10.3390/agronomy15051107

By:

Qu, Yu;
Yao, Fangjie;
Lu, Lixin;
Shan, Xianqi;
Qu, Shengtao

Publication type:

Article

Genome-Wide Identification and Characterization of bHLH Transcription Factors and Their Expression Profile in Potato (Solanum tuberosum L.).

Published in:

Agronomy, 2025, v. 15, n. 5, p. 1070, doi. 10.3390/agronomy15051070

By:

Ye, Jiali;
Zhang, Lingzhi;
Liu, Shuaikang;
Diao, Yi;
Yin, Lina;
Deng, Xiping;
Wang, Shiwen

Publication type:

Article

RETRACTION: lncRNA BZRAP1‐AS1 Alleviates Rheumatoid Arthritis by Regulating miR‐1286/COL5A2 Axis.

Published in:: Immunity, Inflammation & Disease, 2025, v. 13, n. 5, p. 1, doi. 10.1002/iid3.70204
Publication type:: Article

The Role of PANoptosis‐Related Genes in Predicting Breast Cancer Survival and Immune Prospect.

Published in:

BioMed Research International, 2025, v. 2025, p. 1, doi. 10.1155/bmri/3423698

By:

Zhang, Yuxi;
Liu, Zheming;
Zhang, Yixuan;
Zhang, Xue;
Yao, Yi;
Zhang, Chi;
Chakraborty, Supriya

Publication type:

Article