Works about GENETIC mutation

Results: 5000

Colorectal Cancers and Microsatellite Instability.

Published in:

Turkish Journal of Oncology / Türk Onkoloji Dergisi, 2025, v. 40, n. 1, p. 83, doi. 10.5505/tjo.2024.4477

By:

ESMKHANI, Sahra;
EMREM, Mustafa;
ŞAHIN, Ali;
BABAYEV, Hüseyn;
ZEYNELOĞLU, Can;
ARDIÇLI, Sena;
YAZICI, Hilal;
YAZICI, Hülya

Publication type:

Article

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease Open Access.

Published in:

Clinical Kidney Journal, 2025, v. 18, n. 4, p. 1, doi. 10.1093/ckj/sfaf064

By:

Bi, Jingru;
Guo, Wenkai;
Ji, Pengcheng;
Li, Shuang;
Wang, Peng;
Li, Qinggang;
Xie, Yuansheng

Publication type:

Article

Acquired autoinflammatory disorders: a dermatologist's perspective.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 5, p. 928, doi. 10.1093/ced/llae544

By:

Bishnoi, Anuradha;
Sharma, Apoorva;
Baskaran, Narayanan;
Mehta, Hitaishi;
Chatterjee, Debajyoti;
Vinay, Keshavamurthy

Publication type:

Article

Metabolic reprogramming and immune microenvironment profiling in clear cell renal cell carcinoma: implications for prognosis, targeted therapy, and drug resistance.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02401-w

By:

Zheng, Xiao;
Liu, Yongqiang;
Yang, Zixin;
Tian, Yanhua

Publication type:

Article

Assessing the Influence of Maternal Age in Bovine Embryos and Oocytes: A Model for Human Reproductive Aging.

Published in:

Aging & Disease, 2025, v. 16, n. 2, p. 757, doi. 10.14336/AD.2024.0305

By:

Butkiewicz, Aleksander Franciszek;
Amaral, Ana;
Cerveira-Pinto, Marta;
Kordowitzki, Pawel

Publication type:

Article

Effect of Brief Maternal Exposure to Bisphenol A on the Fetal Female Germline in a Mouse Model.

Published in:

Environmental Health Perspectives, 2025, v. 133, n. 3, p. 047002-1, doi. 10.1289/EHP15046

By:

Vrooman, Lisa A.;
Gieske, Mary C.;
Lawson, Crystal;
Cesare, Joseph;
Shuo Zhang;
Bartolomei, Marisa S.;
Garcia, Benjamin A.;
Hassold, Terry J.;
Hunt, Patricia A.

Publication type:

Article

Cross-resistance to 14-, 15- and 16-membered ring macrolides in Salmonella and Campylobacter.

Published in:

Journal of Antimicrobial Chemotherapy (JAC), 2025, v. 80, n. 5, p. 1445, doi. 10.1093/jac/dkaf094

By:

Singh, Ruby;
Mukherjee, Sampa;
Harrision, Lucas B;
McDermott, Patrick F;
Ge, Beilei;
Gilbert, Jeffrey M;
Li, Cong;
Whichard, Jean M;
Fortenberry, Gamola Z;
Dessai, Uday;
Zhao, Shaohua

Publication type:

Article

Associations between pathological features and radioactive iodine-refractory recurrent papillary thyroid carcinoma: with mutation analysis using recurrent samples.

Published in:

BMC Endocrine Disorders, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12902-025-01954-9

By:

Nguyen, Thi Nhung;
Mussazhanova, Zhanna;
Kurohama, Hirokazu;
Hoang, Van Dong;
Le, Ngoc Ha;
Ngo, Thi Minh Hanh;
Nguyen, Van Phu Thang;
Matsuda, Katsuya;
Matsuoka, Yuki;
Tratsiakova, Katsiaryna;
Nguyen, Thi Ngoc Anh;
Sailaubekova, Yerkezhan;
Nguyen, Thi Phuong;
Le, Minh Son;
Nakashima, Masahiro

Publication type:

Article

Holstein Cattle Fertility Haplotypes in Sverdlovsk Oblast.

Published in:

Russian Journal of Genetics, 2025, v. 61, n. 4, p. 390, doi. 10.1134/S1022795424701783

By:

Bogatova, P. S.;
Lihodeevskaya, O. E.;
Lihodeevskiy, G. A.

Publication type:

Article

A&I ANÄSTHESIOLOGIE & INTENSIVMEDIZIN.

Published in:: Anaesthesiologie & Intensivmedizin, 2025, v. 66, n. 5, p. S86
Publication type:: Article

Cystic Fibrosis and Abnormal Lung Function.

Published in:

RT: The Journal for Respiratory Care Practitioners, 2025, v. 38, n. 2, p. 6

By:

PRUITT, BILL

Publication type:

Article

Increased Expression of RCN1P2, TPM3P9, and HSP90AB3P as Non-Coding RNA in Gastric Cancer Linked to Proliferative, Inflammatory and Metastatic Pathways through a Competing Endogenous RNAs Network.

Published in:

Iranian Journal of Public Health, 2025, v. 54, n. 5, p. 1074, doi. 10.18502/ijph.v54i5.18642

By:

Sadeghi, Ensieh Sagheb;
Bioky, Zahra Amrollahy;
Hokmabadi, Mahsa;
Asadollahi, Samira;
Sarhadi, Fatemeh;
Dolatabadi, Nasrin Fattahi;
Zamani, Atefeh;
Mahdevar, Mohammad;
Peymani, Maryam

Publication type:

Article

Safe Continuation of Pegvisomant During Pregnancy in a Patient With Fibrous Dysplasia/McCune-Albright Syndrome Open Access.

Published in:

2025

By:

Tan, Jia Yong;
Chemmanam, Julie;
Burt, Morton G;
Nguyen, Huyen Thi Thanh;
Ho, Jui Ting

Publication type:

Case Study

The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.

Published in:

Gastroenterology & Hepatology from Bed to Bench, 2024, v. 17, n. 4, p. 357, doi. 10.22037/ghfbb.v17i4.2960

By:

Kheirandish, Ali;
Hosseini, Reza Shah;
Yaghoobpoor, Shirin;
Bahrami, Ashkan;
Aghajani, Alireza;
Fathi, Mobina;
Alipour, Milad;
Zarebidoki, Ameneh;
Mohamadkhani, Ashraf

Publication type:

Article

Alloimmunization against platelet‐specific antigen Dik on glycoprotein IIb in a case of fetal–neonatal alloimmune thrombocytopenia.

Published in:

Transfusion, 2025, v. 65, n. 5, p. E18, doi. 10.1111/trf.18194

By:

Greger, N.;
Xu, X. Z.;
Doescher, A.;
Hassenpflug, W.;
Fu, Y. S.;
Kiefel, V.;
Santoso, S.

Publication type:

Article

VEXAS Syndrome: An Overlooked Threat.

Published in:

Balkan Medical Journal, 2025, v. 42, n. 3, p. 185, doi. 10.4274/balkanmedj.galenos.2025.2025-170425

By:

Uğurlu, Serdal;
Kılıç, Berkay

Publication type:

Article

Clinical and demographic characteristics of Becker muscular dystrophy cases.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2025, v. 19, n. 3, p. 123, doi. 10.12956/tchd.1557901

By:

Güzin, Yiğithan;
Doğan, Sevcan Deniz;
Uzan, Gamze Sarıkaya;
Doğan, Gizem;
Özyılmaz, Berk;
Tuncay, Bakiye;
Baydan, Figen

Publication type:

Article

Clonal hematopoiesis of indeterminate potential and risk of immune thrombocytopenia.

Published in:

Journal of Internal Medicine, 2025, v. 297, n. 6, p. 672, doi. 10.1111/joim.20092

By:

Liu, Qianwei;
Wästerlid, Tove;
Smedby, Karin E.;
Xue, Huiwen;
Boberg, Erik;
Fang, Fang;
Liu, Xinyuan

Publication type:

Article

Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00312-4

By:

Tanaka, Satoshi;
Akagawa, Hiroyuki;
Hase, Michiyo;
Iwasaki, Naoko

Publication type:

Article

Zn Al-layered double hydroxide nanocarriers for 5-Fluorouracil delivery: enhanced therapeutic efficacy against cervical cancer (HeLa Cells).

Published in:

Applied Physics A: Materials Science & Processing, 2025, v. 131, n. 5, p. 1, doi. 10.1007/s00339-025-08538-3

By:

B, Bency Mary;
C, Anchana Devi;
Fernandez, Alison Christina;
K, Meera

Publication type:

Article

Epidemiological, Genetic, Clinical, and Treatment Differences of Generalized Pustular Psoriasis and Acrodermatitis Continua of Hallopeau Across Ethnicities: A Systematic Review.

Published in:

American Journal of Clinical Dermatology, 2025, v. 26, n. 3, p. 395, doi. 10.1007/s40257-025-00937-9

By:

Hsu, Francis Li-Tien;
Tsai, Tsen-Fang

Publication type:

Article

Suitability of Different Cytological Preparations for Molecular Analysis of Advanced Non-Small Cell Lung Cancers.

Published in:

Acta Cytologica, 2025, v. 69, n. 2, p. 191, doi. 10.1159/000543739

By:

Maffei, Elisabetta;
Ciaparrone, Chiara;
D'Ardia, Angela;
Giudice, Valentina;
Sabbatino, Francesco;
Giangrasso, Antonino;
Zeppa, Pio;
Caputo, Alessandro

Publication type:

Article

Insights into Thyroid and Salivary Gland Cytopathology: Highlights from a 45th European Congress of Cytology Slide Seminar.

Published in:

Acta Cytologica, 2025, v. 69, n. 2, p. 171, doi. 10.1159/000543225

By:

Brochard, Camille;
Kowalewski, Adam;
Vigliar, Elena;
Luis, Rita;
Aydin, Ozlem;
Klijanienko, Jerzy;
Canberk, Sule

Publication type:

Article

Mit KI vom Molekül zum Therapeutikum.

Published in:

Kompass Ophthalmologie, 2025, v. 11, n. 2, p. 54, doi. 10.1159/000545950

By:

Strauß, Olaf

Publication type:

Article

Correction to: A patient with pontine autosomal dominant microangiopathy and leukoencephalopathy caused by a de novo 3′ untranslated region mutation of COL4A1 gene: case report and literature review.

Published in:

2025

By:

Xie, Fei;
Li, Shuang;
Hu, Xingyue;
Li, Wenyu

Publication type:

Correction Notice

Mutation mitigates finite-size effects in spatial evolutionary games.

Published in:

Communications Physics, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42005-025-02120-2

By:

Shen, Chen;
He, Zhixue;
Shi, Lei;
Tanimoto, Jun

Publication type:

Article

The evolution and convergence of mutation spectra across mammals.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08181-x

By:

Talenti, Andrea;
Wilkinson, Toby;
Morrison, Liam J.;
Prendergast, James G. D.

Publication type:

Article

Somatic Tumor Next-Generation Sequencing in US Veterans With Metastatic Prostate Cancer.

Published in:

JAMA Network Open, 2025, v. 8, n. 5, p. e259119, doi. 10.1001/jamanetworkopen.2025.9119

By:

Valle, Luca F.;
Li, Jiannong;
Desai, Heena;
Hausler, Ryan;
Haroldsen, Candace;
Chatwal, Monica;
Ojo, Matthias;
Kelley, Michael J.;
Rebbeck, Timothy R.;
Rose, Brent S.;
Rettig, Matthew B.;
Nickols, Nicholas G.;
Garraway, Isla P.;
Yamoah, Kosj;
Maxwell, Kara N.

Publication type:

Article

Race, Ethnicity, and Tumor Genomic Testing in Prostate Cancer.

Published in:

2025

By:

Ozay, Zeynep Irem;
Agarwal, Neeraj

Publication type:

Opinion

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-01563-5

By:

Fathi, Mohadeseh;
Khalilian, Sheyda;
Miryounesi, Mohammad;
Ghafouri-Fard, Soudeh

Publication type:

Article

Prevalence of Dental Anomalies in Adult Orthodontic Patients with Oral Radiological Point: A Systematic Review.

Published in:

Sudan Journal of Medical Sciences, 2025, v. 20, n. 1, p. 99, doi. 10.18502/sjms.v20i1.17393

By:

Abbassi, Samareh;
Tajbakhsh, Neda

Publication type:

Article

Germline Variants in Idiopathic Erythrocytosis Identified by Multigene Panel Sequencing.

Published in:

2025

By:

Park, Min‐Seung;
Kim, Boram;
Kim, Hyun‐Young;
Jung, Chul Won;
Jang, Jun Ho;
Kim, Hee‐Jin

Publication type:

Letter to the Editor

Dysfibrinogenemia With the γSer358Cys Variant, Fibrinogen Milano VII, Escapes From the Clauss‐CWA Classification.

Published in:

2025

By:

Suzuki, Atsuo;
Suzuki, Nobuaki;
Tamura, Shogo;
Okamoto, Shuichi;
Kanematsu, Takeshi;
Kojima, Tetsuhito;
Matsushita, Tadashi

Publication type:

Letter to the Editor

Novel Mutations in SUPT5H Gene Associated With Beta‐Thalassemia Phenotype.

Published in:

2025

By:

Agarwal, Archana M.;
Rets, Anton;
Mani, Coumarane

Publication type:

Letter to the Editor

Cryptic KMT2A::MLLT10 Rearrangement in a Highly Aggressive Acute Myeloid Leukemia.

Published in:

2025

By:

Tsilimidos, Gerasimos;
Scarpelli, Ilaria;
Solly, Françoise;
Gossin, Marine;
Segot, Amandine;
Schoumans, Jacqueline Pouw;
Blum, Sabine

Publication type:

Letter to the Editor

Clinicopathologic and Molecular Characterization of NUP98‐Rearranged Acute Leukemias.

Published in:

International Journal of Laboratory Hematology, 2025, v. 47, n. 3, p. 445, doi. 10.1111/ijlh.14422

By:

Sajjan, Sujata;
Oertling, Estelle E.;
Fuda, Franklin;
Gagan, Jeffrey;
Koduru, Prasad;
Garcia, Rolando;
Kwon, Adelaide;
Lin, Elisa;
Cantu, Miguel;
Wilson, Kathleen;
Weinberg, Olga K.;
Chen, Mingyi;
Jaso, Jesse Manuel;
Slone, Tamra L.;
Truscott, Jamie;
Thiebaud, Julio Alvarenga;
Chung, Stephen;
Madanat, Yazan F.;
Chen, Weina

Publication type:

Article

An Unusual Presentation of EATL.

Published in:

2025

By:

Chiriac, Radu;
Baseggio, Lucile

Publication type:

Case Study

Acute Mast Cell Leukemia With Complex Karyomorphism and Karyotypes.

Published in:

International Journal of Laboratory Hematology, 2025, v. 47, n. 3, p. 378, doi. 10.1111/ijlh.14384

By:

Li, Sha;
Zhao, Yantian

Publication type:

Article

腎癌ゲノム医療最前線現状と将来展望.

Published in:

Nishinihon Journal of Urology, 2025, v. 87, n. 4, p. 163

By:

穴見俊樹;
神波大己

Publication type:

Article

Telomeres, the nuclear lamina, and membrane remodeling: Orchestrating meiotic chromosome movements.

Published in:

Journal of Cell Biology, 2025, v. 224, n. 5, p. 1, doi. 10.1083/jcb.202412135

By:

Hiroki Shibuya

Publication type:

Article

Unveiling drug resistance pathways in high-grade serous ovarian cancer(HGSOC): recent advances and future perspectives.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1556377

By:

Fu, Ruiting;
Hu, Ruiyue;
Li, Wenting;
Lv, Xifang;
Zhao, Hanwei;
Li, Fuxia

Publication type:

Article

Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation.

Published in:

Cancer Medicine, 2025, v. 14, n. 9, p. 1, doi. 10.1002/cam4.70930

By:

Liu, Qi;
Xu, Fanhuan;
Guo, Juan;
Xu, Feng;
Huang, Xinhui;
Chen, Jianan;
Jin, Jiacheng;
Zhou, Liyu;
He, Qi;
Wu, Dong;
Song, Luxi;
Zhang, Zheng;
Guo, Cha;
Su, Jiying;
Zhang, Yumei;
Yan, Meng;
Chang, Chunkang;
Li, Xiao;
Wu, Lingyun

Publication type:

Article

Search for Mutations Connected With Non‐Response to Anti‐EGFR Therapy in mCRC in the Morphologically Defined Regions of Primary Tumours.

Published in:

Cancer Medicine, 2025, v. 14, n. 9, p. 1, doi. 10.1002/cam4.70910

By:

Čarnogurská, Martina;
Vasylieva, Valeriia Serhiivna;
Macháčková, Táňa;
Boudná, Marie;
Pifková, Lucie;
Orlíčková, Jana;
Ivkovic, Tina Catela;
Slabý, Ondrej;
Bencsiková, Beatrix;
Popovici, Vlad;
Budinská, Eva

Publication type:

Article

Genomic Analysis of Terbinafine Resistance in Microsporum canis Isolated from a Feline Dermatophytosis.

Published in:

Medical Mycology Journal, 2025, v. 66, n. 1, p. 17, doi. 10.3314/mmj.24-00024

By:

Nojol, Honoka;
Watanabet, Akira;
Makimura, Koichi;
Kano, Rui

Publication type:

Article

Acquired ROS1 fusion and iruplinalkib response in advanced NSCLC after multiple lines of systematic therapy: a case report.

Published in:

Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1571512

By:

Liu, Jiarui;
Jiao, Zhichao;
Zhou, Jun;
Yuan, Yuan;
Li, Qiguang;
Zhou, Wei;
Zhang, Shuai;
Yang, Shuping

Publication type:

Article

International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders.

Published in:

Pediatric Rheumatology, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12969-025-01109-z

By:

Alkwai, Hend M.;
Almaghlouth, Ibrahim A.;
Mendonça, Leonardo Oliveira;
Elkhalifa, Shuayb;
Abolhassani, Hassan;
Aljumaah, Suliman;
Al-Mousa, Hamoud;
Alosaimi, Mohammed F.;
AlSaleem, Alhanouf;
Avcin, Tadej;
Chan, Winnie KY;
Espada, Graciela;
Frémond, Marie-Louise;
Gül, Ahmet;
Hadef, Djohra;
Movahedi, Nasim;
Wittkowski, Helmut;
Al-Mayouf, Sulaiman M.

Publication type:

Article

UPDATED HUMAN CHROMOSOME MAP OF LYMPHEDEMA-LYMPHANGIOGENESIS GENES: TEMPLATE FOR CURRENT AND FUTURE DISCOVERY.

Published in:

Lymphology, 2024, v. 57, n. 4, p. 186

By:

Brouillard, P.;
Witte, M.;
Erickson, R.;
Luy, L.;
Vikkula, M.

Publication type:

Article

Reply to the Letter to the Editor on "The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion" [1].

Published in:

2025

By:

Radziwonik-Frączyk, Wiktoria;
Sułek, Anna;
Elert-Dobkowska, Ewelina

Publication type:

Letter

The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion.

Published in:

2025

By:

Finsterer, Josef

Publication type:

Letter

The protective effect of emergency fourth-dose vaccination issued to county-level hospital nurses against the Omicron infection peak: evidence from China.

Published in:

BMC Nursing, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12912-025-03172-z

By:

Zhang, Lanyue;
Yang, Lei;
Zhou, Wuping;
Jian, Weiyan

Publication type:

Article