Search Results - "Genetic mutation"

IDH-mutant gliomas arise from glial progenitor cells harboring the initial driver mutation.

Authors: Park, Jung Won Kwak, Jiehoon Kim, Keon-Woo et al.

Source: Science. 1/8/2026, Vol. 391 Issue 6781, p1-17. 17p.

Modulation of conformational features and oligomerization of MMACHC by cobalamin variants: impact of the R161Q mutation in cblC disease.

Authors: Longo, Lisa Costa, Maria Assunta Carrotta, Rita et al.

Source: European Biophysics Journal. Jun2026, Vol. 55 Issue 3, p427-438. 12p.

Subjects: Vitamin B12, Genetic mutation, Isothermal titration calorimetry, Circular dichroism, Vitamin B12 deficiency, Protein subunits

BRAF oncogenic mutants evade autoinhibition through a common mechanism.

Authors: Lavoie, Hugo Jin, Ting Lajoie, Driss et al.

Source: Science. 5/29/2025, Vol. 388 Issue 6750, p1-12. 12p.

Association Between the nt230(del4) Mutation and c.‐6‐180T>G Polymorphism in the Canine ABCB1 Gene.

Authors: Palócz, Orsolya Wágner, Réka Csikó, György et al.

Source: Veterinary Medicine International. 7/11/2026, Vol. 2026, p1-5. 5p.

Predicting T790M mutation status in non-small cell lung cancer based on radiomics: A systematic review and meta-analysis.

Authors: Chen, Hongyang Fan, Bingjie Yuan, Mengqi et al.

Source: PLoS ONE. 7/8/2026, Vol. 21 Issue 7, p1-23. 23p.

Naturally occurring mutations in replication proteins of a small RNA virus that alter the number, sizes, and relative abundances of subgenomic RNAs.

Authors: Perdoncini Carvalho, Camila Wang, Deya Han, Junping et al.

Source: PLoS Pathogens. 7/7/2026, Vol. 22 Issue 7, p1-17. 17p.

Durable response to salvage gilteritinib, allogeneic stem cell rescue and maintenance therapy in relapsed AML with a FLT3 N676K variant.

Authors: Grigg, Samuel Khot, Amit Wei, Andrew H.

Source: Leukemia & Lymphoma. Jul2026, p1-4. 4p. 1 Illustration.

Defined genetic abnormalities shape the clonal hierarchy in acute myeloid leukemia as founding events.

Authors: Marcinek, Anetta Huber, Sandra Hutter, Stephan et al.

Source: Leukemia & Lymphoma. Jul2026, Vol. 67 Issue 8, p1849-1852. 4p.

Differential responses to sequential menin inhibitor therapy for acute leukemia underscore the complexities of acquired resistance.

Authors: Markosian, Christopher Buckley, Conor W. Chai-Ho, Wanxing et al.

Source: Leukemia & Lymphoma. Jul2026, Vol. 67 Issue 8, p1845-1848. 4p.

CRISPR-cas9-Mediated Gene Editing to Reverse Oncogenic Mutations in Oral Squamous Cell Carcinoma.

Authors: Awinashe, Minal Viswaja, K. Pathath, Abdul Wahab et al.

Source: Annals of African Medicine. Jul/Aug2026, Vol. 25 Issue 4, p805-809. 5p.

Bedaquiline resistance in tuberculosis: mechanisms, implications, and strategies to preserve efficacy.

Authors: Hasnain, Muhammad M. Haider, Muhammad U. Hussain, Hafiz I. et al.

Source: Egyptian Journal of Chest Diseases & Tuberculosis. Jul-Sep2026, Vol. 75 Issue 3, p265-276. 12p.

Cryptorchidism: Novel genetic insights into CCDC149 mutations.

Authors: Du, Shengrong Xu, Shan Yang, Lei et al.

Source: Andrology. Jul2026, Vol. 14 Issue 5, p1155-1163. 9p.

A Novel MYO5A Mutation (c.3508C>T) in a 27‐Month‐Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1.

Authors: AmirKashani, Davoud Hosseini, Soudabeh Mojbafan, Marziyeh et al.

Source: Case Reports in Immunology. 6/28/2026, Vol. 2026, p1-4. 4p.

Non‐Autoimmune Hyperthyroidism Associated With a Novel Germline Mutation (D633N) in the TSH Receptor.

Authors: Mori, Sayuri Osaki, Yoshinori Fukazawa, Hiroshi et al.

Source: Case Reports in Endocrinology. 6/26/2026, Vol. 2026, p1-8. 8p.

A point mutation in the FAT domain constitutively increases the kinase activity of Rad3^ATR and bypasses the requirement for 9-1–1 phosphorylation to activate the DNA replication checkpoint.

Authors: Dev, Kamal Rider Jr., S. Dean Singh, Balveer et al.

Source: PLoS Genetics. 6/22/2026, Vol. 22 Issue 6, p1-21. 21p.

Cone Opsins and Inherited Retinal Disease.

Authors: Tang, Maya Park, Paul S.-H.

Source: Cells (2073-4409). Jun2026, Vol. 15 Issue 12, p1098. 14p.

Emergence of Novel Reassortant H3N2 Avian Influenza Viruses in Southern China: Genetic Complexity and Pathogenicity in Chickens and Mice.

Authors: Chen, Meichi Liang, Yanjiao Jian, Changmao et al.

Source: Animals (2076-2615). Jun2026, Vol. 16 Issue 12, p1765. 25p.

A Unique SLC26A4 Mutation Spectrum in a Mongolian Enlarged Vestibular Aqueduct Cohort via Whole-Exome Sequencing: A Preliminary Study.

Authors: Erdenechuluun, Jargalkhuu Gombojav, Bayasgalan Batsaikhan, Tserendulam et al.

Source: International Journal of Molecular Sciences. Jun2026, Vol. 27 Issue 12, p5364. 19p.

CADASIL type 1 with cysteine-sparing P572L mutation on exon 11 presenting as focal onset epilepsy: a case report.

Authors: Geng, Yumei Li, Huimin Guo, Zhenli et al.

Source: Egyptian Journal of Medical Human Genetics. 6/15/2026, Vol. 27 Issue 1, p1-7. 7p.

Identification of a DPY19L2 Mutation Linking Globozoospermia to Congenital Heart Defects in a Consanguineous Family: A Genetic Analysis.

Authors: Li, Hongjing He, Jun Chen, Chaojun et al.

Source: Andrologia. 6/15/2026, Vol. 2026, p1-6. 6p.