Works matching DE "GENES"

Results: 5000

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

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

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

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

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

Phylogenetic Variation of Periophthalmus Species Living in the Mekong Delta, Vietnam, Using Cytb Sequence.

Published in:

Ecology & Evolution (20457758), 2025, v. 15, n. 5, p. 1, doi. 10.1002/ece3.71389

By:

Dinh, Quang Minh;
Lam, Tran Thi Huyen;
Phan, Gieo Hoang;
Nguyen, Ton Huu Duc

Publication type:

Article

Metachronous colorectal cancer risks after extended or segmental resection in MLH1, MSH2, and MSH6 Lynch syndrome: multicentre study from the Prospective Lynch Syndrome Database.

Published in:

British Journal of Surgery, 2025, v. 112, n. 4, p. 1, doi. 10.1093/bjs/znaf061

By:

Zalevskaja, K;
Ojala, K;
Petrov, A;
Haupt, S;
Sunde, L;
Bernstein, I;
Jenkins, M A;
Aretz, S;
Nielsen, M;
Capella, G;
Balaguer, F;
Evans, D G;
Burn, J;
Holinski-Feder, E;
Bertario, L;
Bonanni, B;
Lindblom, A;
Levi, Z;
Macrae, F;
Winship, I

Publication type:

Article

大豆抗裂荚基因pdhl在育成品种中的分布.

Published in:

Chinese Journal of Oil Crop Sciences, 2025, v. 47, n. 2, p. 338, doi. 10.19802/j.issn.1007-9084.2023315

By:

邓克林;
郝青南;
窦玲;
屈艳慧;
陈水莲;
杨红丽;
单志慧

Publication type:

Article

Response to Letter to the Editor from de Zegher and Ibáñez: "Rare Variation in LMNA Underlies Polycystic Ovary Syndrome (PCOS) in Two Independent Cohorts".

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1724, doi. 10.1210/clinem/dgae906

By:

Bauer, Rosemary;
Urbanek, Margrit

Publication type:

Article

β-Cell Dedifferentiation in HOMA-β<sup>low</sup> and HOMA-β<sup>high</sup> Subjects Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1430, doi. 10.1210/clinem/dgae538

By:

Kang, Fuyun;
Zhang, Zhuo;
Fu, Hui;
Sun, Jiajun;
Zhang, Jun;
Wang, Qidi

Publication type:

Article

Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 219, doi. 10.4274/jcrpe.galenos.2023.2023-3-11

By:

González-Rodríguez, Juan D.;
Inglés-Torres, Esther Q.;
Cabrera-Sevilla, José E.;
Ibáñez-Micó, Salvador;
Bermejo-Costa, Francisca;
Vera-Carbonell, Ascensión;
Bafalliu-Vidal, Juan A.;
Cortés-Mora, Pedro;
Lorente-Nicolás, Ana;
Donate-Legaz, José María

Publication type:

Article

Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 191, doi. 10.4274/jcrpe.galenos.2024.2024-8-14

By:

Büyükyılmaz, Gönül;
Çavdarlı, Büşranur;
Koca, Serkan Bilge;
Adıgüzel, Keziban Toksoy;
Topaloğlu, Oya;
Aydın, Cevdet;
Hepşen, Sema;
Çakal, Erman;
Gündüz, Nur Semerci;
Boyraz, Mehmet;
Gürbüz, Fatih;
Demirbilek, Hüseyin

Publication type:

Article

Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement.

Published in:

Journal of Audiology & Otology, 2025, v. 29, n. 2, p. 151, doi. 10.7874/jao.2024.00143

By:

Miolo, Gianmaria;
Margiotta, Francesco;
Murgia, Alessandra;
Puppa, Lara Della;
Corona, Giuseppe

Publication type:

Article

WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance.

Published in:

Children, 2025, v. 12, n. 5, p. 595, doi. 10.3390/children12050595

By:

Costin, Mariana;
Cinteză, Eliza Elena;
Croitoru, Anca;
Popa, Ionela-Loredana;
Stanciu, Alexandra;
Popescu, Irina;
Petre, Nicoleta;
Olivotto, Bettyna;
Căpitănescu, Andrei;
Resceanu, Sofia;
Cotfasa, Elena;
Bologa, Cristina

Publication type:

Article

Novel KIF11 Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up.

Published in:

Children, 2025, v. 12, n. 5, p. 560, doi. 10.3390/children12050560

By:

Yaskanich, Ashley H.;
Patel, Ami;
Leys, Monique

Publication type:

Article

Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.

Published in:

Children, 2025, v. 12, n. 5, p. 536, doi. 10.3390/children12050536

By:

Demirtas Guner, Duygu;
Bildik, Hacer Neslihan;
Demir, Hulya;
Cagdas, Deniz;
Saltik Temizel, Inci Nur;
Ozgul, Riza Koksal;
Hizarcioglu Gulsen, Hayriye;
Tan, Cagman;
Cicek, Begum;
Ozen, Hasan;
Yuce, Aysel;
Tezcan, Ilhan

Publication type:

Article

The Role of Gene Alterations in the Pathogenesis of Polycystic Ovary Syndrome.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 10, p. 3347, doi. 10.3390/jcm14103347

By:

Carmina, Enrico

Publication type:

Article

First Identification of the MHC‐DPA1 Alleles in Tibetan Macaques (Macaca thibetana).

Published in:

HLA: Immune Response Genetics, 2025, v. 105, n. 5, p. 1, doi. 10.1111/tan.70198

By:

Min, S. K.;
Zhang, X. S.;
Chen, H.

Publication type:

Article

Investigating Culturable Bacterial Profile in Gastritis and Gastric Atrophy: Implications for Microbiome Research.

Published in:

Iranian Journal of Medical Microbiology, 2025, v. 19, n. 1, p. 1, doi. 10.30699/ijmm.19.1.1

By:

Kazemi, Maryam;
Saniee, Parastoo;
Ramezani, Mohaddaseh;
Ghadersoltani, Paria;
Najafi-disfani, Moammadreza

Publication type:

Article

Genome-wide analysis of genetic loci and candidate genes related to teat number traits in Dongliao black pigs.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1593395

By:

Ke, Juan;
Chen, Changyi;
Fei, Junwen;
Luo, Ke;
Cheng, Yu;
Yu, Huimin;
Cheng, Chao;
Yan, Yiqing;
Zhang, Xiaoran;
Liang, Shuang;
Sun, Hao;
Bai, Chunyan;
Sun, Boxing

Publication type:

Article

Identification of angiogenesis-related genes and molecular subtypes for psoriasis based on random forest algorithm.

Published in:

Clinical & Experimental Immunology, 2024, v. 218, n. 2, p. 199, doi. 10.1093/cei/uxae052

By:

Zhang, Meng-Jie;
Xue, Ting-Ting;
Fei, Xiao-Ya;
Zhang, Ying;
Luo, Ying;
Ru, Yi;
Jiang, Jing-Si;
Song, Jian-Kun;
Kuai, Le;
Luo, Yue;
Wang, Rui-Ping;
Li, Bin

Publication type:

Article

Midface Toddler Excoriation Syndrome (MiTES): A Review.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 469, doi. 10.1111/pde.15917

By:

Patel, Varniraj;
Yadav, Deepika;
Patel, Maitri;
Modi, Vaishnavi;
Barman, Krishna Deb;
Gaurav, Vishal

Publication type:

Article

PLACK Syndrome in Two Unrelated Indian Children Caused by Novel Pathogenic Variants in the CAST Gene.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 596, doi. 10.1111/pde.15823

By:

Srinivas, Sahana M.;
Basavapura, Shashikumar

Publication type:

Article

SAM Syndrome Presenting With Pulmonary Stenosis: A Case Report and Literature Review.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 584, doi. 10.1111/pde.15811

By:

Balan, Batuhan Kerem;
Ersoy‐Evans, Sibel;
Isıyel, Emel;
Alehan, Dursun

Publication type:

Article

Expanding the Phenotypic Spectrum of SecVAUS: Report of Two Cases.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 683, doi. 10.1111/pde.15801

By:

Descos, Marion;
Kuentz, Paul;
Labrèze, Christine;
Bigorre, Michèle;
Vabres, Pierre;
Bessis, Didier

Publication type:

Article

Recent ADC Approvals and Their Impact on the Breast Cancer Space.

Published in:

Oncology (08909091), 2025, v. 39, n. 4, p. 138

By:

Iyengar, Neil M.

Publication type:

Article

Mechanical Conditioning (MeCo) Score Progressively Increases Through the Metastatic Cascade in Breast Cancer via Circulating Tumor Cells.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1632, doi. 10.3390/cancers17101632

By:

Mouneimne, Ghassan;
Connors, Casey;
Watson, Adam;
Grant, Adam;
Campo, Daniel;
Ring, Alexander;
Kaur, Pushpinder;
Lang, Julie E.

Publication type:

Article

The Presence of an ESBL-Encoding Plasmid Reported During a Klebsiella pneumoniae Nosocomial Outbreak in the United Kingdom.

Published in:

Microbiology Research, 2025, v. 16, n. 5, p. 90, doi. 10.3390/microbiolres16050090

By:

Fordham, Stephen Mark Edward;
Mantzouratou, Anna;
Sheridan, Elizabeth

Publication type:

Article

Retraction of: CYP4A22 loss-of-function causes a new type of vitamin D–dependent rickets (VDDR1C).

Published in:: Journal of Bone & Mineral Research, 2025, v. 40, n. 3, p. 447, doi. 10.1093/jbmr/zjaf001
Publication type:: Article

A new Col1a1 conditional knock-in mouse model to study osteogenesis imperfecta.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 1, p. 114, doi. 10.1093/jbmr/zjae189

By:

Dimori, Milena;
Toulany, Mahtab;
Sultana, Lira Samia;
Onal, Melda;
Thostenson, Jeff D;
Carroll, John L;
O'Brien, Charles A;
Morello, Roy

Publication type:

Article

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 1, p. 154, doi. 10.1093/jbmr/zjae185

By:

Jarayseh, Tamara;
Debaenst, Sophie;
De Saffel, Hanna;
Rosseel, Toon;
Milazzo, Mauro;
Bek, Jan Willem;
Hudson, David M;
Van Nieuwerburgh, Filip;
Gansemans, Yannick;
Josipovic, Iván;
Boone, Matthieu N;
Witten, P Eckhard;
Willaert, Andy;
Coucke, Paul J

Publication type:

Article

Inhibition of protein phosphatase-1 is linked to phosphorylation of p53 and apoptosis.

Published in:

Apoptosis, 2002, v. 7, n. 1, p. 31, doi. 10.1023/A:1013508811252

By:

Long, X.;
Wu, G.;
Gaa, S. T.;
Rogers, T. B.

Publication type:

Article

Process of apoptosis induced by TNF-α in murine fibroblast Ltk-cells: Continuous observation with video enhanced contrast microscopy.

Published in:

Apoptosis, 2002, v. 7, n. 1, p. 77, doi. 10.1023/A:1013569029907

By:

Okamoto, K.;
Mizuno, M.;
Nakahara, N.;
Natsume, A.;
Yoshida, J.;
Mori, T.;
Hori, S.;
Kobayashi, H.

Publication type:

Article

A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03823-z

By:

Zhang, Jialong;
Chen, Xinyu;
Yan, Chong;
Gu, Xinyu;
Zhu, Wenhua;
Cao, Xuwei;
Zhou, Lei;
Luo, Sushan;
Lin, Jie;
Li, Zunbo;
Lu, Jiahong;
Zhao, Chongbo;
Qiao, Kai;
Yu, Xuefan;
Xi, Jianying

Publication type:

Article

A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03823-z

By:

Zhang, Jialong;
Chen, Xinyu;
Yan, Chong;
Gu, Xinyu;
Zhu, Wenhua;
Cao, Xuwei;
Zhou, Lei;
Luo, Sushan;
Lin, Jie;
Li, Zunbo;
Lu, Jiahong;
Zhao, Chongbo;
Qiao, Kai;
Yu, Xuefan;
Xi, Jianying

Publication type:

Article