Works matching DE "GENETIC mutation"

Results: 5000

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

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

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

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

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

Unexplained fever with consumptive syndrome in the elderly: two cases of VEXAS syndrome with inflammasome dysregulation.

Published in:

Clinical & Experimental Immunology, 2024, v. 218, n. 2, p. 213, doi. 10.1093/cei/uxae069

By:

Mendonça, Leonardo Oliveira;
Leal, Vinicius N C;
Roa, Mariela E G V;
Barros, Samar Freschi;
Kalil, Jorge;
Pontillo, Alessandra

Publication type:

Article

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 591, doi. 10.1111/pde.15820

By:

Hanna, Hyvönen;
Kaisa, Kettunen;
Kristiina, Avela;
Sirpa, Kivirikko;
Leila, Jeskanen;
Sinikka, Suominen;
Päivi, Salminen;
Katariina, Hannula‐Jouppi

Publication type:

Article

Facial Sebaceous Hyperplasia in an Adolescent With Hypohidrotic Ectodermal Dysplasia.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 655, doi. 10.1111/pde.15751

By:

Pinto‐Pulido, Elena Lucía;
Noguera‐Morel, Lucero;
Colmenero, Isabel;
Torrelo, Antonio;
Hernández‐Martín, Ángela

Publication type:

Article

3 Things You Should Know About Advances in CLL Management.

Published in:

Oncology (08909091), 2025, v. 39, n. 4, p. 164

By:

Brown, Jennifer R.;
Danilov, Alexey V.;
Davids, Matthew S.

Publication type:

Article

Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene Mutation.

Published in:

Genes, 2025, v. 16, n. 5, p. 588, doi. 10.3390/genes16050588

By:

Luppino, Giovanni;
Wasniewska, Malgorzata;
Giordano, Mara;
Pepe, Giorgia;
Morabito, Letteria Anna;
Porri, Debora;
Aversa, Tommaso;
Corica, Domenico

Publication type:

Article

Establishment of Reference Measurement Procedure for TP53 R175H/R248W Detection and a Novel Preparation Method for ctDNA Reference Material.

Published in:

Genes, 2025, v. 16, n. 5, p. 576, doi. 10.3390/genes16050576

By:

Tang, Yanru;
Niu, Chunyan;
Zhang, Jiejie;
Dong, Lianhua;
Yang, Jingya

Publication type:

Article

Analysis of Selected Eye Disorders in a Group of Predisposed Breeds of Dogs: Molecular Diagnostics of Collie Eye Anomaly and Progressive Retinal Atrophy.

Published in:

Genes, 2025, v. 16, n. 5, p. 474, doi. 10.3390/genes16050474

By:

Bučan, Jaroslav;
Holečková, Beáta;
Galdíková, Martina;
Halušková, Jana;
Schwarzbacherová, Viera

Publication type:

Article

Establishment of Two Novel Ovarian Tumor Cell Lines with Characteristics of Mucinous Borderline Tumors or Dedifferentiated Carcinoma—Implications for Tumor Heterogeneity and the Complex Carcinogenesis of Mucinous Tumors.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1716, doi. 10.3390/cancers17101716

By:

Sohel, Hasibul Islam;
Zahan, Umme Farzana;
Kiyono, Tohru;
Ishikawa, Masako;
Razia, Sultana;
Kanno, Kosuke;
Yamashita, Hitomi;
Sonia, Shahataj Begum;
Nakayama, Kentaro;
Kyo, Satoru

Publication type:

Article

Storage Time and DNA Quality Determine BRCA1/2 Sequencing Success in Prostate Cancer: A Multicentre Analysis with Therapeutic Implications.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1705, doi. 10.3390/cancers17101705

By:

Vescovo, Mariavittoria;
Raspollini, Maria Rosaria;
Nibid, Lorenzo;
Castiglione, Francesca;
Nardi, Eleonora;
de Biase, Dario;
Massari, Francesco;
Giunchi, Francesca;
Pepe, Francesco;
Troncone, Giancarlo;
Malapelle, Umberto;
Carosi, Mariantonia;
Casini, Beatrice;
Melucci, Elisa;
Fassan, Matteo;
Toffolatti, Luisa;
Guerini-Rocco, Elena;
Conversano, Federica;
Rappa, Alessandra;
Tommasi, Stefania

Publication type:

Article

Current and Emerging Insights into the Causes, Immunopathogenesis, and Treatment of Cutaneous Squamous Cell Carcinoma.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1702, doi. 10.3390/cancers17101702

By:

Anderson, Ronald;
Mkhize, Nomzamo M.;
Kgokolo, Mahlatse M. C.;
Steel, Helen C.;
Rossouw, Theresa M.;
Anderson, Lindsay;
Rapoport, Bernardo L.

Publication type:

Article

Effects of DHA Oral Supplementation on Plasma Resolvin D1 and D2 Levels in Naïve Breast Cancer Patients.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1694, doi. 10.3390/cancers17101694

By:

Molfino, Alessio;
Imbimbo, Giovanni;
Salerno, Gerardo;
Lionetto, Luana;
De Luca, Alessandro;
Simmaco, Maurizio;
Gallicchio, Carmen;
Picconi, Orietta;
Amabile, Maria Ida;
Muscaritoli, Maurizio

Publication type:

Article

High KYNU Expression Is Associated with Poor Prognosis, KEAP1 / STK11 Mutations, and Immunosuppressive Metabolism in Patient-Derived but Not Murine Lung Adenocarcinomas.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1681, doi. 10.3390/cancers17101681

By:

Cai, Ling;
Rogers, Thomas J.;
Mousavi Jafarabad, Reza;
Vu, Hieu;
Yang, Chendong;
Novaresi, Nicole;
Galán-Cobo, Ana;
Girard, Luc;
Ostrin, Edwin J.;
Fahrmann, Johannes F.;
Kim, Jiyeon;
Heymach, John V.;
O'Donnell, Kathryn A.;
Xiao, Guanghua;
Xie, Yang;
DeBerardinis, Ralph J.;
Minna, John D.

Publication type:

Article

Short Tandem Repeat (STR) Somatic Mutation in Non-Melanoma Skin Cancer (NMSC): Association with Transcriptomic Profile and Potential Implications for Therapy.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1669, doi. 10.3390/cancers17101669

By:

Kibriya, Muhammad G.;
Almazan, Armando;
Argos, Maria;
Islam, Tariqul;
Shea, Christopher R.;
Ahsan, Habibul;
Jasmine, Farzana

Publication type:

Article

Survival Outcomes Associated with the Location of BRCA Mutations in Ovarian Cancer: A Systematic Review and Meta-Analysis.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1661, doi. 10.3390/cancers17101661

By:

Kim, Ji Hyun;
Yoon, Hyung Joon;
Ha, Hyeong In;
Kim, Eun Taeg;
Kim, Dongkyu Eugene;
Kim, Sangeon;
Bae, Jae Kyung;
Lim, Myong Cheol

Publication type:

Article

Clinical Characteristics and Survival of Ovarian Cancer Patients According to Homologous Recombination Deficiency Status.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1628, doi. 10.3390/cancers17101628

By:

Sisman, Yagmur;
Schejbel, Lone;
Schnack, Tine Henrichsen;
Høgdall, Claus;
Høgdall, Estrid

Publication type:

Article

The Use of Mutational Signatures to Decipher the Inter-Relationship of Reactive Oxygen Species with Homologous Recombination and Non-Homologous End-Joining Deficiencies as Well as Their Effects on APOBEC Mutagenesis in Breast Cancer.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1627, doi. 10.3390/cancers17101627

By:

Farmanbar, Amir;
Kneller, Robert;
Firouzi, Sanaz

Publication type:

Article

TP53 Mutation-Specific Dysregulation of Store-Operated Calcium Entry and Apoptotic Sensitivity in Triple-Negative Breast Cancer.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1614, doi. 10.3390/cancers17101614

By:

Rabab, Kaneez E.;
Buchanan, Paul J.;
Colley, Grace;
White, Anita;
Murphy, Aisling;
McCormack, Chloe;
Eustace, Alex J.

Publication type:

Article

Whispers in the Lungs: Small Extracellular Vesicles in Lung Cancer and COPD Crosstalk.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1612, doi. 10.3390/cancers17101612

By:

Aleka, Yetemwork;
Biadglegne, Fantahun;
Sack, Ulrich

Publication type:

Article

The Central Role of Ribosomal Proteins in p53 Regulation.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1597, doi. 10.3390/cancers17101597

By:

Lindström, Mikael S.

Publication type:

Article

Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review.

Published in:

Clinical Medicine Insights: Case Reports, 2025, p. 1, doi. 10.1177/11795476251342637

By:

Aamir, Muhammad;
Faizullah, Fahad;
Khan, Malik W. Z.;
Azeem, Touba;
Khan, Muhammad Awais

Publication type:

Article

The Gut Microbiome as a Key Determinant of the Heritability of Body Mass Index.

Published in:

Nutrients, 2025, v. 17, n. 10, p. 1713, doi. 10.3390/nu17101713

By:

Barber, Thomas M.;
Kabisch, Stefan;
Pfeiffer, Andreas F. H.;
Weickert, Martin O.

Publication type:

Article

Molecular and Pathological Heterogeneity of Synchronous Small and Large Duct Intrahepatic Cholangiocarcinoma—A Case Series.

Published in:

Current Oncology, 2025, v. 32, n. 5, p. 255, doi. 10.3390/curroncol32050255

By:

Popovska, Savelina;
Nankov, Vladislav;
Ilcheva, Boriana;
Dimitrov, George

Publication type:

Article

Morphological Markers of Chromosomal Instability: A Useful Aid in Effusion Cytology.

Published in:

Journal of Cytology, 2025, v. 42, n. 2, p. 95, doi. 10.4103/joc.joc_15_24

By:

Buch, Archana;
Agarwal, Mallika;
Londhe, Mangesh;
Singh, Madhuri;
Raj, Akshi;
Gore, Charusheela

Publication type:

Article

CRISPR/Cas9-Based Modeling of JAK2 V617F Mutation in K562 Cells Reveals Enhanced Proliferation and Sensitivity to Therapeutic Agents.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4600, doi. 10.3390/ijms26104600

By:

Nilsri, Nungruthai;
Mekchaaum, Rujira;
Kalasin, Supaporn;
Jongjitwimol, Jirapas;
Daowtak, Krai

Publication type:

Article

Signature Gene Mutations in Colorectal Cancer: Potential Neoantigens for Cancer Vaccines.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4559, doi. 10.3390/ijms26104559

By:

Yoon, Jaegoo;
Moon, Haeun;
Jeon, Yuna;
Choe, Soohyun;
Yoon, Hyunho

Publication type:

Article

Large-scale single-virus genomics uncovers hidden diversity of river water viruses and diversified gene profiles.

Published in:

ISME Journal: Multidisciplinary Journal of Microbial Ecology, 2024, v. 18, n. 1, p. 1, doi. 10.1093/ismejo/wrae124

By:

Nishikawa, Yohei;
Wagatsuma, Ryota;
Tsukada, Yuko;
Chia-ling, Lin;
Chijiiwa, Rieka;
Hosokawa, Masahito;
Takeyama, Haruko

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

Molecular genetic analysis of pulmonary benign metastasizing leiomyoma and intravenous leiomyomatosis: a comparative study using whole exome sequencing.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02551-x

By:

Li, Jin;
Zeng, Jiafei;
Luo, Shuai;
Wang, Jinjing

Publication type:

Article

Analysis of Colorectal Cancer Gene Mutations and Application of Long Blocker Displacement Amplification Technology for High-Throughput Mutation Detection.

Published in:

Biosensors (2079-6374), 2025, v. 15, n. 5, p. 308, doi. 10.3390/bios15050308

By:

Lu, Ping;
Su, Xinglei;
Leong, Sirui;
Xiu, Xuehao;
Song, Ping;
Peng, Junjie;
Si, Yunpei

Publication type:

Article

Two Chinese Patients of Auriculocondylar Syndrome 2: A Novel PLCB4 Splicing Variant and 5-Year Follow-up.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 6, p. 914, doi. 10.1177/10556656241234575

By:

Lin, Yunting;
Zhang, Ye;
Ma, Jian;
Liu, Shu;
Liu, Yongxi;
Yang, Chaoxiang;
Zeng, Chunhua;
Luo, Xianqiong

Publication type:

Article

Functions, interactions and prognostic role of POLE: a bioinformatics analysis.

Published in:

Journal of Gynecologic Oncology, 2025, v. 36, n. 3, p. 1, doi. 10.3802/jgo.2025.36.e45

By:

Carvajal-Veloza, Jonathan;
Galindo-Morales, Fredy;
Gutierrez-Castañeda, Luz Dary

Publication type:

Article

A Dominant Mutation in G<sub>α</sub>s‐Protein Increases Hair Pigmentation.

Published in:

Pigment Cell & Melanoma Research, 2025, v. 38, n. 3, p. 1, doi. 10.1111/pcmr.70025

By:

Goff, Philip S.;
Budd, Peter;
Logan, Darren W.;
Keighren, Margaret;
Cantero, Marta;
McKie, Lisa;
Montoliu, Lluis;
Jackson, Ian J.;
Sviderskaya, Elena V.

Publication type:

Article