Works about GENETIC mutation

Results: 5000

Clinical Effects of RUNX1 Mutations on the Outcomes of Patients with Acute Myeloid Leukemia Treated with Allogeneic Hematopoietic Stem-Cell Transplantation.

Published in:

Current Oncology, 2025, v. 32, n. 6, p. 294, doi. 10.3390/curroncol32060294

By:

Ran, Wei-Jie;
Xu, Lan-Ping;
Zhang, Xiao-Hui;
Chang, Ying-Jun;
Mo, Xiao-Dong;
Sun, Yu-Qian;
Huang, Xiao-Jun;
Wang, Yu

Publication type:

Article

Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action.

Published in:

Current Oncology, 2025, v. 32, n. 6, p. 290, doi. 10.3390/curroncol32060290

By:

Weber, Evan;
Carmona-Gonzalez, Carlos A.;
Boucher, Melanie;
Eisen, Andrea;
Laing, Kara;
Melvin, Jennifer;
Schrader, Kasmintan A.;
Sehdev, Sandeep;
Wong, Stephanie M.;
Gelmon, Karen A.

Publication type:

Article

Perceived cancer risk and genetic counseling: A biopsychological perspective.

Published in:

Journal of Genetic Counseling, 2025, v. 34, n. 3, p. 1, doi. 10.1002/jgc4.70032

By:

Cilli, Eleonora;
Brancati, Francesco;
Di Giacomo, Dina

Publication type:

Article

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2025, v. 34, n. 3, p. 1, doi. 10.1002/jgc4.1993

By:

Miller, Erin M.;
Brown, Emily;
Christian, Susan;
Kelly, Melissa A.;
Knight, Linda M.;
Saberi, Sara;
Rigelsky, Christina;
Ingles, Jodie

Publication type:

Article

Increased Activity‐Dependent Bulk Endocytosis in Huntington's Disease Results From Huntingtin Haploinsufficiency.

Published in:

Journal of Neurochemistry, 2025, v. 169, n. 6, p. 1, doi. 10.1111/jnc.70134

By:

Tan, Han C. G.;
McAdam, Robyn L.;
Morton, Andrew;
Cousin, Michael A.;
Smillie, Karen J.

Publication type:

Article

Long‐Term Benefit of Thalamic Deep Brain Stimulation in POLR3A Mutation‐Associated Action Tremor.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 6, p. 882, doi. 10.1002/mdc3.70002

By:

Minnerop, Martina;
Reinhardt, Alisha;
Nikolov, Petyo;
Bahners, Bahne H.;
Caspers, Julian;
Marae, Julia Gelenar;
Hartmann, Christian J.;
Groiss, Stefan J.;
Amunts, Katrin;
Vesper, Jan;
Schnitzler, Alfons

Publication type:

Article

SLC5A6 Mutations in Axonal Sensorimotor Polyneuropathy Patients Concurrent With Sodium Dependent Multivitamin Transporter Deficiency and Improved Effects by Multivitamin Therapy.

Published in:

Journal of the Peripheral Nervous System, 2025, v. 30, n. 2, p. 1, doi. 10.1111/jns.70030

By:

Pi, Byung Kwon;
Lee, Ah. Jin;
Nam, Soo Hyun;
Chung, Ki Wha;
Choi, Byung‐Ok

Publication type:

Article

PANK2突变致非典型泛酸激酶相关神经变性1例并文献复习.

Published in:

Journal of Nanjing Medical University: Natural Sciences, 2025, v. 45, n. 6, p. 900, doi. 10.7655/NYDXBNSN24111

By:

白玉洁;
俞孝天;
马博敦;
冯红选;
侯晓夏;
胡睿瑶;
桂千;
朱伟;
程庆璋

Publication type:

Article

Treatment of BRCA 1 mutated breast cancer with a PARP inhibitor and an Immune Checkpoint Inhibitor.

Published in:

Journal of Oncology Pharmacy Practice, 2025, v. 31, n. 5, p. 850, doi. 10.1177/10781552251320049

By:

Hoppe, Christina;
Roubal, Kiera;
Pavuluri, Sushma;
Lupak, Oleksandra

Publication type:

Article

A Neutrosophic Genetic Algebraic Model for Financial Risk Evaluation in Technology Innovation Enterprises.

Published in:

Neutrosophic Sets & Systems, 2025, v. 86, p. 921

By:

Yushan Zhou

Publication type:

Article

A cutaneous nodule revealing Münchmeyer's disease.

Published in:

Oxford Medical Case Reports, 2025, v. 2025, n. 5, p. 1, doi. 10.1093/omcr/omaf045

By:

Rkiek, Yasmine;
Jouari, Ouiame El;
Rimani, Mouna;
Haddad, Meriem;
Gallouj, Salim

Publication type:

Article

Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 6, p. 1, doi. 10.1002/mgg3.70110

By:

Atas, Nurgul;
Karaoglan, Murat;
Nacarkahya, Gülper

Publication type:

Article

Composite Lymphoma: A Rare Case of Vomiting.

Published in:

2025

By:

Liu, Changqin;
Han, Dongyan;
Sun, Xiaomin

Publication type:

Case Study

Evaluation of potential of targeted sequencing through mutational signature simulation.

Published in:

PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0326071

By:

Kodama, Keisuke;
Ling, Yiwei;
Ichikawa, Hiroshi;
Wakai, Toshifumi;
Okuda, Shujiro

Publication type:

Article

Based on quorum sensing: reverse effect of traditional Chinese medicine on bacterial drug resistance mechanism.

Published in:

Frontiers in Cellular & Infection Microbiology, 2025, p. 1, doi. 10.3389/fcimb.2025.1582003

By:

Qiu, Ningning;
Liu, Wenlong;
Zhang, Xili

Publication type:

Article

Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait.

Published in:

Journal of Intellectual Disability Research, 2025, v. 69, n. 7, p. 582, doi. 10.1111/jir.13238

By:

Spolaor, Fabiola;
Beghetti, Federica;
Piatkowska, Weronika;
Guiotto, Annamaria;
Polli, Roberta;
Bettella, Elisa;
Liani, Valentina;
di Giorgio, Elisa;
Sawacha, Zimi

Publication type:

Article

Identification of an AweakB phenotype caused by significant ABO gene deletion in a Chinese woman.

Published in:

Vox Sanguinis, 2025, v. 120, n. 6, p. 625, doi. 10.1111/vox.70008

By:

Gao, Tian;
Jiang, Feiyu;
Xu, Shoufang;
Zhang, Yingying;
Zheng, Weiwei;
Wang, Xinhui;
Liu, Zhiwei

Publication type:

Article

A Novel Glucokinase Mutation Causing Maturity-onset Diabetes of the Young: A Case Report.

Published in:

British Journal of Hospital Medicine (17508460), 2025, v. 86, n. 6, p. 1, doi. 10.12968/hmed.2024.1056

By:

Nie, Dongying;
Lou, Xueyong

Publication type:

Article

Hb A2-Getafe [δ 132 (H10) Lys > Thr, HBD: c.88C > A]: New Mutation in the δ-Globin Gene in a Spanish Patient.

Published in:

Hemoglobin, 2025, v. 49, n. 3, p. 233, doi. 10.1080/03630269.2025.2511984

By:

Torrado Carrión, Ramiro Antonio;
López Moreno, Rafael;
Blanco Barros, Carmen;
Pabón, Lisset;
Ropero Gradilla, Paloma

Publication type:

Article

Heterozygous Beta Thalassemia with Segmental Duplication of chr16p13.3 Leading to Thalassemia Intermedia Phenotype: A Report of 2 Cases with Review of Literature.

Published in:

Hemoglobin, 2025, v. 49, n. 3, p. 222, doi. 10.1080/03630269.2025.2492696

By:

Jajodia, Ekta;
Arora, Neeraj;
Haque, Moquitul;
Ganguly, Tusti;
Kumar, Mukesh;
Chaudhary, Spandan;
Ahmad, Firoz;
Chaudhary, Pooja;
Jitani, Ankit

Publication type:

Article

Resistance and Hormetic Responses to Acetyl‐Coenzyme A Carboxylase‐Inhibitors Observed in a Beckmannia syzigachne Population Holding the I1781L Target‐Site Mutation.

Published in:

Weed Biology & Management, 2025, v. 25, n. 2, p. 1, doi. 10.1111/wbm.70003

By:

Chen, Guoqi;
Xue, Jiahao;
Yu, Hang;
Mao, Haiyan

Publication type:

Article

A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.

Published in:

2025

By:

Li, Lei;
Fan, Yong;
Du, Guoli;
Xu, Jing;
Jiang, Sheng

Publication type:

Case Study

Recurrent Panuveitis as a Manifestation of a Novel PIK3CD Gene Mutation: A Diagnostic and Management Challenge.

Published in:

2025

By:

Rana, Vipin;
Jindal, Ankur;
Krishna, Vamshi;
Dogra, Mohit;
Tripathi, Amit Nandan;
Machhua, Sanghamitra

Publication type:

Case Study

Response to: Nephrectomy for congenital nephrotic syndrome: unanswered questions.

Published in:

2025

By:

Uğurlu, Yüksel;
Gülhan, Bora;
Dursun, İsmail;
Nalçacıoğlu, Hulya;
Kaya Aksoy, Gülşah;
Canpolat, Nur;
Bayazıt, Aysun;
Özçakar, Zeynep Birsin;
Yüksel, Selcuk;
Parmaksız, Gönül;
Özdemir, Gülşah;
Kurt-Şükür, Eda Didem;
Düzova, Ali;
Hayran, Mutlu;
Ozaltin, Fatih

Publication type:

Letter

Nephrectomy for congenital nephrotic syndrome: unanswered questions.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 8, p. 2711, doi. 10.1007/s00467-025-06813-2

By:

Saher, Laiba

Publication type:

Article

Publisher Correction: The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?

Published in:

2025

By:

Uğurlu, Yüksel;
Gülhan, Bora;
Dursun, İsmail;
Nalçacıoğlu, Hülya;
Kaya Aksoy, Gülşah;
Canpolat, Nur;
Bayazıt, Aysun;
Özçakar, Zeynep Birsin;
Yüksel, Selcuk;
Parmaksız, Gönül;
Özdemir, Gülşah;
Kurt-Şükür, Eda Didem;
Düzova, Ali;
Hayran, Mutlu;
Ozaltin, Fatih

Publication type:

Correction Notice

The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?

Published in:

Pediatric Nephrology, 2025, v. 40, n. 8, p. 2505, doi. 10.1007/s00467-025-06774-6

By:

Uğurlu, Yüksel;
Gülhan, Bora;
Dursun, İsmail;
Nalçacıoğlu, Hülya;
Kaya Aksoy, Gülşah;
Canpolat, Nur;
Bayazıt, Aysun;
Özçakar, Zeynep Birsin;
Yüksel, Selcuk;
Parmaksız, Gönül;
Özdemir, Gülşah;
Kurt-Şükür, Eda Didem;
Düzova, Ali;
Hayran, Mutlu;
Ozaltin, Fatih

Publication type:

Article

重新思考肿瘤.

Published in:

Chinese Journal of Oncology, 2025, v. 47, n. 6, p. 463

By:

罗伟仁

Publication type:

Article

Chromosomal gain and mutations of platelet-derived growth factor receptor-α gene in canine high-grade oligodendroglioma.

Published in:

Veterinary Pathology, 2025, v. 62, n. 4, p. 478, doi. 10.1177/03009858241309396

By:

Yoshida, Kio;
Chambers, James K.;
Uchida, Kazuyuki

Publication type:

Article

Imaging Implications in Diagnosis and Treatment of Sphenoid Wing Dysplasia.

Published in:

Radiologic Technology, 2025, v. 96, n. 6, p. 463

By:

Money, Amanda T.

Publication type:

Article

Amyotrophic Lateral Sclerosis.

Published in:

Radiologic Technology, 2025, v. 96, n. 6, p. 441

By:

Weber, Daria

Publication type:

Article

Imaging for Huntington Disease.

Published in:

Radiologic Technology, 2025, v. 96, n. 6, p. 433

By:

Leide, MiKayla S.

Publication type:

Article

Integrating multi-omics data to optimize immunotherapy in endometrial cancer: a comprehensive study.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02978-2

By:

Guan, Xin;
Cao, Rongchuan;
Liu, Longbi;
Ma, Lin;
Gao, Ning;
Yang, Yanfei;
Xiao, Mingyue;
Du, Rui;
Su, Yuzhe;
Wang, Zhen;
Liu, Xiaofeng;
Han, Lu

Publication type:

Article

Detection of single nucleotide polymorphisms associated with litter size in goats using genotyping-by-sequencing and association analysis.

Published in:

Animal Bioscience, 2025, v. 38, n. 8, p. 1580, doi. 10.5713/ab.24.0533

By:

Satoshi Kubota;
Thara Wongdee;
Pramote Paengkoum

Publication type:

Article

KLF4 variants in palmoplantar, nonsyndromic and syndromic epidermal differentiation disorder phenotypes.

Published in:

British Journal of Dermatology, 2025, v. 193, n. 1, p. 8, doi. 10.1093/bjd/ljaf117

By:

Gruber, Robert W;
Schmuth, Matthias

Publication type:

Article

PIVKA-II as a biomarker in pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency: implications for vitamin K therapy.

Published in:

British Journal of Dermatology, 2025, v. 193, n. 1, p. 171, doi. 10.1093/bjd/ljaf078

By:

Miyamoto, Suzuka;
Shinkuma, Satoru;
Yada, Koji;
Hamada, Kengo;
Ogawa, Kohei;
Nogami, Keiji;
Asada, Hideo

Publication type:

Article

A FAM8A1 frameshift variant is associated with REM sleep behavior disorder, urinary retention, and mydriasis in Russian Blue cats.

Published in:

Animal Genetics, 2025, v. 56, n. 3, p. 1, doi. 10.1111/age.70013

By:

Stee, Kimberley;
Van Poucke, Mario;
Huguet, Jaume Alomar;
Batlle, Martí Pumarola;
Bossens, Kenny;
Cohen‐Solal, Ariel;
Van Brantegem, Leen;
Kromhout, Kaatje;
Bhatti, Sofie F. M.;
Peelman, Luc;
Cornelis, Ine

Publication type:

Article

Prognostic impact of caspase‐8 mutation in oral cavity squamous cell carcinoma.

Published in:

Oral Diseases, 2025, v. 31, n. 3, p. 769, doi. 10.1111/odi.15124

By:

Lu, Hsueh‐Ju;
Su, Chun‐Wen;
Su, Shih‐Chi;
Chang, Lun‐Ching;
Wu, Ming‐Fang;
Lin, Chiao‐Wen;
Yang, Shun‐Fa

Publication type:

Article

A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02050-3

By:

Dong, Yuehua;
Pei, Shaohua;
Yang, Zirao;
Xue, Yanyan;
Wang, He

Publication type:

Article

Unilateral breast Darier disease: A case report and literature review.

Published in:

Medicine International (2754-3242), 2025, v. 5, n. 4, p. N.PAG, doi. 10.3892/mi.2025.244

By:

Pshtiwan, Lana R.A.;
Tofiq, Shaban Latif;
Hiwa, Dilan S.;
Fatih, Harzal Hiwa;
Mohammed, Karukh K.;
Salih, Abdulwahid M.;
Omar, Diyar A.;
Najar, Kayhan A.;
Kakamad, Fahmi H.

Publication type:

Article

Spiritual Well-Being and Phenoconversion in Huntington's Disease: Analysis from the Prospective Huntington at Risk Observational Study.

Published in:

Journal of Palliative Medicine, 2025, v. 28, n. 6, p. 803, doi. 10.1089/jpm.2024.0227

By:

Sokol, Leonard L.;
Ashner, Marissa C.;
Bega, Danny;
Kluger, Benzi M.;
Smith, Alexander K.;
Marder, Karen S.;
Garcia, Tanya P.

Publication type:

Article

Hypopigmented Junctional BAP1‐Inactivated Melanocytoma: A Paradigm Shift.

Published in:

Journal of Cutaneous Pathology, 2025, v. 52, n. 6, p. 428, doi. 10.1111/cup.14808

By:

Gunesch, Ali;
Yeh, Iwei;
McCalmont, Timothy;
Berry, Elizabeth;
Vanderbeek, Gretchen;
White, Kevin P.

Publication type:

Article

Next Generation Sequencing Based Gene Identification Techniques as a Diagnostic Approach For Patients with the CVID Phenotype.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2025, v. 23, n. 1, p. 32, doi. 10.21911/aai.2025.728

By:

KOSTEL BAL, Sevgi;
SEVINC, Selin;
HASKOLOGLU, Sule;
ISLAMOGLU, Candan;
BASKIN, Kubra;
JIMENEZ HEREDIA, Raul;
FROHNE, Alexandra;
AYTEKIN, Caner;
BOZTUG, Kaan;
DOGU, Figen;
IKINCIOGULLARI, Aydan

Publication type:

Article

Wastewater sequencing from a rural community enables identification of widespread adaptive mutations in a SARS-CoV-2 alpha variant.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-03771-5

By:

Conway, Michael J.;
Novay, Michael P.;
Pusch, Carson M.;
Ward, Avery S.;
Abel, Jackson D.;
Williams, Maggie R.;
Uzarski, Rebecca L.;
Alm, Elizabeth W.

Publication type:

Article

Coma, hyperammonemia, metabolic acidosis, and mutation: Lessons learned in the acute management of late onset urea cycle disorders.

Published in:

Hemodialysis International, 2012, v. 16, n. 1, p. 95, doi. 10.1111/j.1542-4758.2011.00591.x

By:

Iyer, Hari;
Sen, Mithu;
Prasad, Chitra;
Rupar, C. Anthony;
Lindsay, Robert M.

Publication type:

Article

Role of Genetic Factors in Vascular Access Thrombosis in Hemodialysis Patients.

Published in:

Hemodialysis International, 2004, v. 8, n. 1, p. 81, doi. 10.1111/j.1492-7535.2004.0085k.x

By:

Özdemir, F. N.;
Atac, F. B.;
Akçay, A.;
Ozbek, N.;
Haberal, M.

Publication type:

Article

Personal neoantigen cancer vaccines.

Published in:

OncoImmunology, 2014, v. 3, n. 6, p. N.PAG, doi. 10.4161/onci.29311

By:

Fritsch, Edward F;
Hacohen, Nir;
Wu, Catherine J

Publication type:

Article

Biological insights into BRAFV600 mutations in melanoma patient.

Published in:

OncoImmunology, 2013, v. 2, n. 8, p. 1, doi. 10.4161/onci.25594

By:

Improta, Giuseppina;
Pelosi, Giuseppe;
Tamborini, Elena;
Donia, Marco;
Santinami, Mario;
De Braud, Filippo;
Fraggetta, Filippo

Publication type:

Article

In silico prediction of tumor antigens derived from functional missense mutations of the cancer gene census.

Published in:

OncoImmunology, 2012, v. 1, n. 8, p. 1281, doi. 10.4161/onci.21511

By:

Khalili, Jahan S.;
Hanson, Russell W.;
Szallasi, Zoltan

Publication type:

Article

Development of genetically diverse breeding lines through induced mutagenesis for the improvement of Chinigura and Kataribhog aromatic rice (Oryza sativa L.) landraces.

Published in:

International Journal of Radiation Biology, 2025, v. 101, n. 7, p. 761, doi. 10.1080/09553002.2025.2498982

By:

Rani, Mohammad Hasanuzzaman;
Hasibuzzaman, Abu Sayeed Md;
Begum, Shamsun Nahar

Publication type:

Article