Gene Mutation

Latest research

1. Differential effects of KRAS G-domain and hypervariable region mutants on cancer phenotypes

   • James Allen D. de Borja
   • Kim Denyse J. Hao Lin
   • Reynaldo L. Garcia

   in Scientific Reports

   Article Open access 03 November 2025

   

2. Familial hyponatremia conditioned by the R137C mutation with constitutive activation of the vasopressin receptor

   • Hanna Szymanik-Grzelak
   • Maria Daniel
   • Małgorzata Pańczyk-Tomaszewska

   in Journal of Applied Genetics

   Article Open access 03 November 2025

3. Oncogenic KRAS mutations drive immune suppression through immune-related regulatory network and metabolic reprogramming

   • Lin Tian
   • Hui Li
   • Ying Cheng

   in Cell Death & Disease

   Article Open access 03 November 2025

   

4. A rare case report of activated PI3K delta syndrome (APDS): diagnostic pitfalls

   • Mohamad Qazreen Ahmad Shawaludin
   • Zarina Thasneem Zainudeen
   • Intan Juliana Abd Hamid

   in BMC Pediatrics

   Article Open access 03 November 2025

5. Functional dominance in the central dogma of tumor mitochondrial genetics

   in Nature Genetics

   Article 03 November 2025

   

6. asxl1 C-terminal truncation and SRSF2 mutation drive leukemogenesis via immune reprogramming

   • Lingge Tu
   • Fangfang He
   • Xuan Sun

   in Leukemia

   Article Open access 03 November 2025

   

7. Serial cross-sectional school surveys identifies C469Y, P553L, R561H and A675V kelch 13 mutations associated with artemisinin resistance in Western Kenya

   • Victor Osoti
   • Kevin Wamae
   • L. Isabella Ochola-Oyier

   in Scientific Reports

   Article Open access 03 November 2025

   

8. Mutational analysis of the mitochondrial tRNA genes and flanking regions in lymphocytes from long-term pediatric cancer survivors given doxorubicin chemotherapy for acute lymphoblastic leukemia

   • Vernon E. Walker
   • Neha Bansal
   • Steven E. Lipshultz

   in Cardio-Oncology

   Article Open access 03 November 2025

   

9. Functionally dominant hotspot mutations of mitochondrial ribosomal RNA genes in cancer

   • Sonia Boscenco
   • Jacqueline Tait-Mulder
   • Payam A. Gammage

   in Nature Genetics

   Article Open access 03 November 2025

   

10. Transcription factor 4 and Fuchs’ endothelial corneal dystrophy (FECD) association: Perspectives for novel targeted therapeutics

    • Angeliki Margoni
    • Kostas A. Papavassiliou
    • Athanasios G. Papavassiliou

    in Eye

    Article 02 November 2025

11. Association of human papillomavirus infection and epidermal growth factor receptor mutations in inverted sinonasal papilloma: a systematic review and meta-analysis

    • Xinru Li
    • Jian Ma
    • Yu Ding

    in European Archives of Oto-Rhino-Laryngology

    Article 01 November 2025

    

12. A case of POLG-related mitochondrial DNA maintenance defect

    • Junyi Wang
    • Changhong Tan
    • Lifen Chen

    in Acta Neurologica Belgica

    Article 31 October 2025

    

13. The Tenth International Symposium on Hereditary Breast and Ovarian Cancer

    in Familial Cancer

    Article 31 October 2025

    

14. Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient

    • Joanna Janiak
    • Weronika Piątkowska
    • Maria Mazurkiewicz-Bełdzińska

    in Acta Neurologica Belgica

    Article 31 October 2025

    

15. Small cell lung cancer: relationship with HLA-I alleles and gene mutation

    • Xuanpeng Wu
    • Fei Xue
    • Qifei Wu

    in Journal of Cardiothoracic Surgery

    Article Open access 31 October 2025

    

16. Exploratory analysis of lamivudine legacy and clonal selection of HBs truncation mutants in HBV-related hepatocellular carcinoma

    • Yu-De Chu
    • Pei-Huan Ho
    • Chau-Ting Yeh

    in Infectious Agents and Cancer

    Article Open access 31 October 2025

    

17. Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact

    • Prashant Warang
    • Pradnya Dehadrai
    • Prabhakar S. Kedar

    in Journal of Human Genetics

    Article 31 October 2025

    

18. Brushite nephrolithiasis and the overinterpretation of genetic variants

    • Noor-ul-Eman Haider
    • Mehwish Amjad
    • Sadaf Khan

    in Urolithiasis

    Article 31 October 2025

19. Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia

    • Debjani Bhattacharya
    • Patricia da Silva-Buttkus
    • Christian Behrends

    in Cell Death & Disease

    Article Open access 31 October 2025

    

20. 5′ UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy

    • Siping Liu
    • Ke Xiong
    • Bei Jia

    in Orphanet Journal of Rare Diseases

    Article Open access 31 October 2025

    

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