Works matching DE "GENETIC mutation"

Results: 5000

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

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

Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes.

Published in:

European Journal of Endocrinology, 2025, v. 192, n. 5, p. 590, doi. 10.1093/ejendo/lvaf086

By:

Mohan, Dipika R;
Paes, Ticiana;
Mebarak, Jacobo Buelvas;
Meredith, David M;
Soares, Beatriz;
Vaz, Victor;
Carroll, Rona S;
Kaiser, Ursula B;
Smith, Timothy R;
Bi, Wenya L;
Lerario, Antonio M;
Abreu, Ana Paula

Publication type:

Article

Progressive subcortical involvement as spinocerebellar ataxia type 3 advances.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03803-3

By:

Yuan, Pubing;
Huang, Yonghua;
Dai, Minghui;
Jin, Xin;
Zheng, Dingxin;
Xiao, Die;
Deng, Lihua;
Ou, Peiling;
Shi, Linfeng;
Chen, Yifan;
Wang, Jian;
Chen, Wei;
Zhang, Yuanchao;
Liu, Chen

Publication type:

Article

Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03759-4

By:

Wang, Rui;
Zheng, Yu;
Yang, Ge;
Xu, Zhenchao;
Liu, Yaoxi;
Zhao, Weihua;
Wang, Hua;
Mei, Haibo;
Zhu, Guanghui

Publication type:

Article

Pulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03749-6

By:

Xie, Tiange;
Xu, Na;
Zhao, He;
Han, Yingdong;
Wu, Juan;
Di, Hong;
Peng, Min;
Zhang, Ting;
Fan, Hongwei;
Zhang, Yun;
Zeng, Xuejun

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

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

A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00313-3

By:

Miura, Shiroh;
Suenaga, Seria;
Goto, Hana;
Wang, Zhaonan;
Makino, Akane;
Fan, Luoming;
Senzaki, Kensuke;
Ochi, Masayuki;
Ohyagi, Yasumasa;
Shibata, Hiroki

Publication type:

Article

IIT Indore Develops Quantum AI Nanotechnology for Early Cancer Detection.

Published in:: Indian Practitioner, 2025, v. 78, n. 5, p. 42
Publication type:: Article

Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.

Published in:

Respirology, 2025, v. 30, n. 6, p. 523, doi. 10.1111/resp.70039

By:

Franco, Giovanni;
Ba, Ibrahima;
Nathan, Nadia;
Guerin, Cécile;
Lassus, Albane;
Kannengiesser, Caroline;
Froidure, Antoine;
Manali, Effrosyni;
Bunel, Vincent;
Bonniaud, Philippe;
Bouvry, Diane;
Debray, Marie Pierre;
Juge, Pierre Antoine;
Epaud, Ralph;
Louvrier, Camille;
Plessier, Aurélie;
de Fontbrune, Flore Sicre;
Wémeau‐Stervinou, Lidwine;
Adam, Sylvain Marchand;
Chabrol, Alexandre

Publication type:

Article

Rapid diagnosis of adult-type diffuse glioma using a layered scheme.

Published in:

BMC Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12916-025-04124-9

By:

Wu, Jinsong;
Wu, Shuai;
Cao, Dandan;
Xiong, Zhang;
Zhang, Jianhua;
Zou, Yourui;
Wu, Zanyi;
Nie, Yanli;
Luo, Chen;
Yao, Ye;
Song, Yanyan;
Jiao, Yuchen;
Chen, Hong;
Ma, Hui;
Kang, Dezhi;
Mao, Ying;
Yan, Hai

Publication type:

Article

Determinants of artificial intelligence electrocardiogram-derived age and its association with cardiovascular events and mortality: a systematic review and meta-analysis.

Published in:

NPJ Digital Medicine, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s41746-025-01727-7

By:

Mossavarali, Shervin;
Vaezi, Ali;
Gholami, Zahra;
Molaei, Alireza;
Yekaninejad, Mir Saeed;
Asselbergs, Folkert W.;
Shafiee, Akbar

Publication type:

Article

Simultaneous onset of chronic nonbacterial osteomyelitis in siblings.

Published in:

Modern Rheumatology Case Reports, 2025, v. 9, n. 1, p. 20, doi. 10.1093/mrcr/rxae035

By:

Patel, Jenny A.;
Thomas, Kristen B.;
Ristagno, Elizabeth H.;
Basiaga, Matthew L.

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

Milpa Diet for MASLD in Mesoamerican Populations: Feasibility, Advantages, and Future Perspectives.

Published in:

Life (2075-1729), 2025, v. 15, n. 5, p. 812, doi. 10.3390/life15050812

By:

Huerta-Álvarez, Aline;
Arellano, Mariana;
Chávez-Méndez, Clyo Anahí;
Carpinteyro-Espin, Paulina;
Palacios-Reyes, Carmen;
Pérez-Escobar, Juanita

Publication type:

Article

Exploring Risk and Protective Factors in Parkinson's Disease.

Published in:

Cells (2073-4409), 2025, v. 14, n. 10, p. 710, doi. 10.3390/cells14100710

By:

Beheshti, Iman

Publication type:

Article

Radon Exposure and Cancer Risk: Assessing Genetic and Protein Markers in Affected Populations.

Published in:

Biology (2079-7737), 2025, v. 14, n. 5, p. 506, doi. 10.3390/biology14050506

By:

Kashkinbayev, Yerlan;
Kazhiyakhmetova, Baglan;
Altaeva, Nursulu;
Bakhtin, Meirat;
Tarlykov, Pavel;
Saifulina, Elena;
Aumalikova, Moldir;
Ibrayeva, Danara;
Bolatov, Aidos

Publication type:

Article

Mutation of the Polygalacturonase Gene AcoPG3 Deferred Softening of Pineapple Fruit.

Published in:

Biology (2079-7737), 2025, v. 14, n. 5, p. 474, doi. 10.3390/biology14050474

By:

Shu, Haiyan;
Luan, Aiping;
Wang, You;
He, Junhu;
Wei, Qing;
Zhan, Rulin;
Chang, Shenghe

Publication type:

Article

Comprehensive review of male breast cancer: Understanding a rare condition.

Published in:

Oncology Research, 2025, v. 33, n. 6, p. 1289, doi. 10.32604/or.2025.058790

By:

JAMIL, ABDUR;
SIDDIQUE, RIMSHA;
ALTAF, FARYAL;
WARRAICH, DANIYAL;
AHMED, FAIZAN;
QURESHI, ZAHEER

Publication type:

Article

Somatic DICER1-Mutant Benign Thyroid Nodules in Adults: A Group of Follicular Nodular Disease With Continuous Growth.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 6, p. 1559, doi. 10.1210/clinem/dgae750

By:

Meng, Lingyang;
Li, Haorong;
Fu, Yi'an;
Yu, Danyan;
Tang, Jiamin;
Hu, Yan;
Fei, Xiaochun;
Yang, Kaiyu;
Liu, Ziyuan;
Peng, Rongguang;
Zhou, Yulin;
Wang, Shu;
Yan, Jiqi;
Shen, Liyun;
Han, Rulai;
Ye, Lei

Publication type:

Article

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1303, doi. 10.1210/clinem/dgaf010

By:

Punt, Lauren D;
Kooijman, Sander;
Mutsters, Noa J M;
Yue, Kaiming;
Kaay, Daniëlle C M van der;
Tellingen, Vera van;
Waarde, Willie M Bakker-van;
Boot, Annemiek M;
Akker, Erica L T van den;
Boekholt, Anneke A van;
Groote, Kirsten de;
Kruijsen, Anne R;
Maren, Nancy H G van Nieuwaal-van;
Woltering, M Claire;
Heijligers, Malou;
Heyden, Josine C van der;
Bannink, Ellen M N;
Rinne, Tuula;
Hannema, Sabine E;
Waal, Wouter J de

Publication type:

Article

Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1358, doi. 10.1210/clinem/dgae533

By:

Chen, Rong;
Cui, Lijia;
Du, Juan;
Zhang, Shujie;
Jiang, Yan;
Li, Mei;
Xing, Xiaoping;
Wang, Ou;
Xia, Weibo

Publication type:

Article

Mutations in RNU4ATAC Are Associated With Chilblain‐Like Lesions and Enhanced Type I Interferon Signalling.

Published in:

European Journal of Immunology, 2025, v. 55, n. 5, p. 1, doi. 10.1002/eji.202451518

By:

Robertson, Nic;
Joshi, Aakash;
Ritchie, Francesca;
Schim van der Loeff, Ina;
Royan, David;
Duker, Angela L.;
Rice, Gillian I.;
Bober, Michael B.;
Mansour, Sahar;
Campbell, David I.;
Brennan, Mary;
Brown, Lindsay;
Jones, Laura;
Williams, Eleri;
Jackson, Andrew P.;
Crow, Yanick J.

Publication type:

Article

Inborn Errors of Nucleic Acid Sensing and Type I Interferon Signaling Determine Viral Susceptibility in Humans.

Published in:

European Journal of Immunology, 2025, v. 55, n. 5, p. 1, doi. 10.1002/eji.202451382

By:

Naesens, Leslie;
Callens, Steven;
Kerre, Tessa;
Tavernier, Simon J.;
Haerynck, Filomeen

Publication type:

Article

Updates on Toll‐Like Receptor 10 Research.

Published in:

European Journal of Immunology, 2025, v. 55, n. 5, p. 1, doi. 10.1002/eji.202551840

By:

Riva, Federica;
Muzio, Marta

Publication type:

Article

Artificial base mismatches-mediated PCR (ABM-PCR) for detecting clinically relevant single-base mutations.

Published in:

Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 7, p. 1301, doi. 10.1515/cclm-2024-0962

By:

Lau, Cia-Hin;
Guo, Kejiang;
Chen, Gang;
Zou, Minghai;
Zhou, Zhongqi;
Wang, Tao;
Huang, Zhihao;
Li, Jiaqi;
Dong, Wenjiao;
Huang, Yumei;
Lo, Pik Kwan;
Xue, Hongman;
Huang, Xiaojun;
Xu, Meijing;
Tin, Chung;
Zhu, Haibao

Publication type:

Article

In-Silico Analysis of FANCD2 mutations presents in the FANCD2 protein MLS and their subsequent impacts.

Published in:

Bulletin of Pure & Applied Sciences-Zoology, 2024, v. 43A, n. 2, p. 242

By:

Mahto, Ram Balak

Publication type:

Article

Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 211, doi. 10.4274/jcrpe.galenos.2023.2022-8-7

By:

Yamei Li;
Ting Han;
Yingxia Wang;
Jie Gao;
Jianglin Zhang;
Yinglan Wu

Publication type:

Article

Recent Advances and Achievements in Mutation Breeding of Fruit Crops: A Review.

Published in:

Agricultural Reviews, 2025, v. 46, n. 2, p. 220, doi. 10.18805/ag.R-2616

By:

Sebastian, Karishma;
Bindu, B.;
Arya, M. S.

Publication type:

Article

Ears of the Lynx Sign in Lipoyl Transferase-2 (LIPT2) Deficiency.

Published in:

Neurology India, 2025, v. 73, n. 3, p. 634, doi. 10.4103/neurol-india.Neurol-India-D-24-00717

By:

Sharma, Yashu;
Gunasekaran, Pradeep Kumar;
Saini, Arushi Gahlot;
Bhatia, Vikas

Publication type:

Article

Sensorimotor Neuropathy with Chronic Kidney Disease: A Rare Etiology.

Published in:

2025

By:

Kakkanattu, Tom;
Sethi, Jasmine;
Divyaveer, Smita;
Mahesh, KV;
Ramachandran, Raja;
Kohli, Harbir S

Publication type:

Letter

Expanding Phenotype of ATP1A3 Mutation.

Published in:

2025

By:

Cherian, Ajith;
Nandana, J;
Divya, K P

Publication type:

Letter

Orbital mass in newborn: neuroblastoma.

Published in:

Pediatric Radiology, 2025, v. 55, n. 6, p. 1331, doi. 10.1007/s00247-025-06215-4

By:

Keceli, Merter;
Öztürk, Özge;
Ertuna, E. Yagiz

Publication type:

Article

The performance of GPT-3.5 and GPT-4 on genetic tests at PhD-level: GPT-4 as a promising tool for genomic medicine and education.

Published in:

Journal of Clinical & Basic Research, 2024, v. 8, n. 4, p. 22, doi. 10.29252/JCBR.8.4.22

By:

Khosravi, Teymoor;
Rahimzadeh, Arian;
Motallebi, Farzaneh;
Vaghefi, Fatemeh;
Al Sudani, Zainab Mohammad;
Oladnabi, Morteza

Publication type:

Article

Biological Traits and Isoenzymatic Characterization of Triplophysa strauchii from the Turks River.

Published in:

Fishes (MDPI AG), 2025, v. 10, n. 5, p. 239, doi. 10.3390/fishes10050239

By:

Serekbol, Gulden;
Wang, Chengxin;
Yang, Liting;
Wang, Huanhuan;
Liu, Jiaxuan;
Huo, Qiang;
Xu, Hao;
Song, Yong;
Ren, Daoquan;
Chen, Shengao

Publication type:

Article

Identification and Functional Characterization of a Novel SOX4 Mutation Predisposing to Coffin–Siris Syndromic Congenital Heart Disease.

Published in:

Children, 2025, v. 12, n. 5, p. 608, doi. 10.3390/children12050608

By:

Yan, Zi;
Dong, Bin-Bin;
Li, Yan-Jie;
Yang, Chen-Xi;
Xu, Ying-Jia;
Huang, Ri-Tai;
Liu, Xing-Yuan;
Yang, Yi-Qing

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

常见消化系统肿瘤患者 TP53 和 KRAS 基因突变的全外显子杂交捕获基因测序及其临床意义.

Published in:

Journal of Jilin University (Medicine Edition), 2025, v. 51, n. 2, p. 471, doi. 10.13481/j.1671⁃587X.20250221

By:

王潇;
熊婵玉;
张赟;
纪娟娟;
周玉

Publication type:

Article

Detection of the HLA‐B54:21 Allele, a Variant of B54:01:01:01, in a Taiwanese Individual.

Published in:

HLA: Immune Response Genetics, 2025, v. 105, n. 5, p. 1, doi. 10.1111/tan.70243

By:

Yang, Kuo‐Liang;
Lin, Py‐Yu

Publication type:

Article

Four New Variants of HLA‐C Identified by Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 105, n. 5, p. 1, doi. 10.1111/tan.70244

By:

Loginova, Maria;
Obukhov, Ivan;
Paramonov, Igor

Publication type:

Article

Listeriolysin O Gene-Based Detection and Phylogenetic Investigation of Listeria monocytogenes in Food and Environmental Samples.

Published in:

Iranian Journal of Medical Microbiology, 2025, v. 19, n. 1, p. 40, doi. 10.30699/ijmm.19.1.40

By:

Mohammadjani, Mahdis;
Harzandi, Naser;
Haddadi, Azam

Publication type:

Article

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1574255

By:

Cheng, Wenjie;
Pan, Chaolan;
Sun, Zhe;
Sun, Peiyi;
Li, Jiawen;
Yao, Zhirong;
Wang, Xiaoxiao;
Zhang, Jia

Publication type:

Article