Gene Mutation

Latest research

1. Bioinformatic analysis of missense SNPs in the KCNJ10 gene associated with neurological disorders

   • Tamer Gür
   • Ömer Faruk Karasakal
   • Mesut Karahan

   in Egyptian Journal of Medical Human Genetics

   Article Open access 19 October 2025

   

2. Clinicopathological features of PDGFRA D842Y-mutant gastrointestinal stromal tumors: insights from four cases

   • Tatsuo Kanda
   • Hiroshi Ichikawa
   • Toshifumi Wakai

   in International Cancer Conference Journal

   Article 18 October 2025

   

3. Invasive breast carcinoma in a patient with PHTS: a case report

   • Haiying Zhan
   • Neal Fischbach
   • Paul Cohen

   in Diagnostic Pathology

   Article Open access 17 October 2025

   

4. Should ITSN1 be considered as a Mendelian Parkinson’s disease gene? Description of three novel families

   • Guillaume Cogan
   • Christelle Tesson
   • Alexis Brice

   in npj Parkinson's Disease

   Article Open access 17 October 2025

   

5. TET2 repression contributes to EGFR TKI resistance in EGFR-mutant non-small cell lung cancer through regulating AXIN2 methylation

   • Hangjie Ying
   • Yamei Chen
   • Ying Jin

   in Scientific Reports

   Article Open access 17 October 2025

   

6. Association of genetic variants in m¹A modification core genes and neuroblastoma risk

   • Susu Jiang
   • Siqi Dong
   • Zhenjian Zhuo

   in BMC Cancer

   Article Open access 17 October 2025

   

7. Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients

   • Mohammad Miryounesi
   • Mohadeseh Fathi
   • Shadab Salehpour

   in Neurogenetics

   Article 17 October 2025

8. Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population

   • Hongyang Wang
   • Tao Shi
   • Qiuju Wang

   in Orphanet Journal of Rare Diseases

   Article Open access 17 October 2025

   

9. Comprehensive evaluation of NAT+/HBsAg– blood donors: confirmation strategies, serial testing outcomes, and S gene mutations associated with occult HBV infection

   • Rongsong Du
   • Wenbo Gao
   • Huaqin Liang

   in BMC Infectious Diseases

   Article Open access 17 October 2025

   

10. Tumour spectrum, distinguishing features and management recommendations for NTHL1-associated tumour syndrome: a systematic review

    • Weilun Gao
    • Chuyi Liao
    • Richarda M. de Voer

    in Hereditary Cancer in Clinical Practice

    Article Open access 17 October 2025

    

11. Impact of TP53 somatic mutations on prognosis in endometrial cancer: a systematic review and meta-analysis

    • Nayara Rozalem Moretti
    • Hideki Zimermann Kamitani
    • Francisco Cezar Aquino de Moraes

    in Clinical and Translational Oncology

    Article 17 October 2025

    

12. Brooke-Spiegler-Syndrom: Dermatochirurgie bei ausgedehntem Befund an den Ohren

    • Lea Braun
    • Edgar Dippel
    • Christoph Löser

    in Die Dermatologie

    Article 16 October 2025

    

13. A MGMT Enhancer Variant is Associated with Glioma Susceptibility and Progression

    • Shu Zhang
    • Yiji Chen
    • Liming Huang

    in Cellular and Molecular Neurobiology

    Article Open access 16 October 2025

    

14. Genomic determinants of the diffusely infiltrative gliomatosis cerebri phenotype

    • Pushan Dasgupta
    • Samir A. Dagher
    • Nazanin K. Majd

    in Journal of Neuro-Oncology

    Article 16 October 2025

    

15. Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers

    • Setor Amuzu
    • Amy X. Xie
    • Jian Carrot-Zhang

    in Nature Genetics

    Article Open access 16 October 2025

    

16. Evaluation of the Sixth Exon of IL12RB1 in Patients Afflicted by the Non-Healing Form of Cutaneous Leishmaniasis

    • Mohammad Moafi
    • Hossien Rezvan
    • Roya Sherkat

    in Current Genetic Medicine Reports

    Article 16 October 2025

    

17. A Deleterious Variant in MBOAT7 Causes Intellectual Disability in an Iranian Family: An Example of Reassignment of Variants of Uncertain Significance

    • Naghmeh Saba
    • Maryam Naghinejad
    • Mohammad Taheri

    in Biochemical Genetics

    Article 16 October 2025

    

18. Impact of Wilms’ tumor 1 gene (WT1) mutation on outcome of allogeneic hematopoietic-cell transplantation for acute myeloid leukemia: a retrospective multicenter cohort study from the ALWP/EBMT registry

    • Arnon Nagler
    • Jordi Esteve
    • Mohamad Mohty

    in Bone Marrow Transplantation

    Article Open access 16 October 2025

    

19. Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations

    • Joshua S. Weinstock
    • Sharjeel A. Chaudhry
    • Marios Arvanitis

    in Nature Communications

    Article Open access 16 October 2025

    

20. This gene causes obesity — and shields against heart disease

    • Heidi Ledford

    in Nature

    Article 16 October 2025

    

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