Výsledky vyhľadávania - "GENETIC mutation"

A mutation in the SLC45A2 gene causing the cremello phenotype in a Turkish wild horse.

Autori: GÜCÜYENER HACAN, Özlem ÇELİKELOĞLU, Koray ERDOĞAN, Metin

Zdroj: Veterinary Journal of Ankara University / Ankara Universitesi Veteriner Fakultesi Dergisi. 2025, Vol. 72 Issue 4, p457-462. 6p.

Predmet: Genetic mutation, DNA sequencing, Animal coloration, Phenotypic plasticity, Genes, Wild horses, Horse breeding

Emergence, surge, and fading of the novel feline parvovirus Thr390Ala mutant in Egyptian cats during 2023: insights from a comprehensive full-length VP2 genetic analysis.

Autori: Safwat, Mahmoud S. Xi, Chen M, Samah El-Sayed a ďalší

Zdroj: BMC Veterinary Research. 10/3/2025, Vol. 21 Issue 1, p1-21. 21p.

Predmet: Genetic mutation, Phylogeny, DNA analysis, Viral ecology, Antigenic variation, Feline panleukopenia virus, Cats

Geografický termín: Egypt

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Autori: Mingue Kang Byeongyong Ahn Jaeyeol Shin a ďalší

Zdroj: Journal of Veterinary Science. Jul2025, Vol. 26 Issue 4, p1-11. 11p.

Predmet: Genetic mutation, Genomics, Animal welfare, Dog breeds, Polymerase chain reaction, Genes

Gene mutation estimations via mutual information and Ewens sampling based CNN & machine learning algorithms.

Autori: Dai, Wanyang¹ (AUTHOR) nan5lu8@nju.edu.cn

Zdroj: Journal of Applied Statistics. Sep2025, Vol. 52 Issue 12, p2321-2353. 33p.

Predmety: *MATHEMATICAL optimization, *INFORMATION theory, GENETIC mutation, CONVOLUTIONAL neural networks, GENOME editing, MACHINE learning, PROTEIN expression, SAMPLING (Process)

abCAN: a practical and novel attention network for predicting mutant antibody affinity Open Access.

Autori: Gong, Chen Weng, Nan Liu, Hongjia a ďalší

Zdroj: Briefings in Bioinformatics. Sep2025, Vol. 26 Issue 5, p1-13. 13p.

Predmety: *ARTIFICIAL neural networks, *STATISTICAL correlation, *FORECASTING, GENETIC mutation, DRUG design, MACHINE learning, PREDICTION models, IMMUNOGLOBULINS

Predicting protein stability changes upon mutations with dual-view ensemble learning from single sequence Open Access.

Autori: Nie, Zhiwei Ma, Yiming Liu, Yutian a ďalší

Zdroj: Briefings in Bioinformatics. Jul2025, Vol. 26 Issue 4, p1-12. 12p.

Predmety: PROTEIN stability, GENETIC mutation, BIOLOGICAL evolution, INTERMOLECULAR interactions, PREDICTION models, ENSEMBLE learning, GENOTYPE-environment interaction

Pathway‐level mutational signatures predict breast cancer outcomes and reveal therapeutic targets.

Autori: Posta, Máté Győrffy, Balázs

Zdroj: British Journal of Pharmacology. Dec2025, Vol. 182 Issue 23, p5734-5747. 14p.

Predmety: *BREAST cancer, *GENETIC mutation, *GENOMICS, *SURVIVAL rate, *HUMAN genetic variation, *SURVIVAL analysis (Biometry), *DRUG target

NMD‐insensitive CDH1 mutation as a mechanism for retained E‐cadherin protein expression in lobular carcinoma in situ (LCIS).

Autori: Christgen, Matthias Bartels, Stephan Kreipe, Hans

Zdroj: Histopathology. Dec2025, Vol. 87 Issue 6, p959-962. 4p.

Predmety: *LOBULAR carcinoma, *GENETIC mutation, *CADHERINS, *SCIENTIFIC observation, *IMMUNOHISTOCHEMISTRY

A Novel NRAS Variant Near the Splice Junction in Moroccan Childhood Acute Lymphoblastic Leukemia: A Molecular Dynamics Study.

Autori: Skhoun, Hanaa El Fessikh, Meriem Khattab, Mohammed a ďalší

Zdroj: Biochemical Genetics. Dec2025, Vol. 63 Issue 6, p4811-4828. 18p.

Predmety: *LYMPHOBLASTIC leukemia, *GENETIC mutation, *T cells, *MOLECULAR dynamics, *TREATMENT effectiveness, *PEDIATRIC oncology, *RAS oncogenes

Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes.

Autori: Goschzik, Tobias Yuan, Mathias Pfaff, Elke a ďalší

Zdroj: Acta Neuropathologica Communications. 11/25/2025, Vol. 13 Issue 1, p1-13. 13p.

Predmety: *CYTOGENETICS, *GENETIC mutation, *TUMOR classification, *EPIGENETICS, *MICRORNA, *ONCOGENES

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.

Autori: Wang, Qiong Duan, Jiang Zhao, Xiaolong a ďalší

Zdroj: Orphanet Journal of Rare Diseases. 11/25/2025, Vol. 20 Issue 1, p1-10. 10p.

Predmety: *GENETIC mutation, *DISEASE incidence, *PHENYLKETONURIA, *NEWBORN screening, *GENETIC counseling, *PROVINCES

Geografický termín: SOUTHWEST China, CHINA, YUNNAN Sheng (China)

Functional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely Pathogenic.

Autori: Walpole, Sebastian Santiago‐Vela, Miren Itxaso Birkedal, Ulf a ďalší

Zdroj: Clinical Genetics. Nov2025, p1. 6p. 3 Illustrations.

Predmety: *GENETIC mutation, *GENETIC variation, *PATHOLOGICAL anatomy, *MEDICAL databases, *FUNCTIONAL assessment

Multifocal micronodular pneumocyte hyperplasia in a patient with undiagnosed tuberous sclerosis: next-generation sequencing of a lung biopsy reveals TSC1 mutation—a case report.

Autori: Kornafeld, Anna Krencz, Ildiko Kipp, Benjamin R. a ďalší

Zdroj: Journal of Medical Case Reports. 11/21/2025, Vol. 19 Issue 1, p1-5. 5p.

Predmety: *TUBEROUS sclerosis, *GENETIC mutation, *MOLECULAR diagnosis, *DIAGNOSIS, *PULMONARY nodules, *BIOPSY

Analysis of genes involved in immune response in children with HLH – case series.

Autori: Gowin, Ewelina Szaflarski, Witold Januszkiewicz-Lewandowska, Danuta

Zdroj: Pediatric Rheumatology. 11/21/2025, Vol. 23 Issue 1, p1-6. 6p.

Predmety: *IMMUNE response, *GENETIC mutation, *GENES, *GENETIC testing, *MACROPHAGE activation syndrome, *REGULATOR genes, *CHILD patients, *NLRP3 protein

Mutation in the knockdown resistance gene and population genetic structure in Culex tritaeniorhynchus from Guizhou Province.

Autori: Li, Weiyi Liu, Zhihao Tang, Xiaomin a ďalší

Zdroj: Parasites & Vectors. 11/21/2025, Vol. 18 Issue 1, p1-10. 10p.

Predmety: *POPULATION genetics, *GENETIC mutation, *MITOCHONDRIAL DNA, *INSECTICIDE resistance, *GENETIC variation, *JAPANESE B encephalitis, *JAPANESE encephalitis viruses

Geografický termín: GUIZHOU Sheng (China), CHINA

Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.

Autori: Bouramtane, Abdelhamid Elmakhzen, Badreddine Elmouhi, Hinde a ďalší

Zdroj: International Journal of Immunogenetics. Nov2025, p1. 10p. 2 Illustrations.

Predmety: *GENES, *GENETIC mutation, *AUTOINFLAMMATORY diseases, *NUCLEOTIDE sequencing, *MEDICAL literature, *PHENOTYPIC plasticity

Apocrine carcinoma of the breast: distinctive metabolic reprogramming and high‐frequency PIK3CA mutations revealed by molecular and immunohistochemical analysis.

Autori: Nakamura, Harumi Kukita, Yoji Kittaka, Nobuyoshi a ďalší

Zdroj: Histopathology. Nov2025, p1. 20p. 6 Illustrations.

Predmety: *METABOLIC reprogramming, *GENETIC mutation, *PROTEIN expression, *LIPID metabolism, *BREAST cancer, *IMMUNOHISTOCHEMISTRY

Identification of Compound Heterozygous DPM1 Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie.

Autori: Song, Wei Zhou, Wenzhi Yang, Liu a ďalší

Zdroj: Case Reports in Pediatrics. 11/19/2025, Vol. 2025, p1-6. 6p.

Predmety: *GLYCOSYLATION, *GENETIC mutation, *EYE abnormalities, *GENETIC variation, *CONGENITAL disorders, *HEARING disorders, *CHILD patients, *METABOLIC disorders

Proliferative Nodule With Unusual Features in a Giant Congenital Melanocytic Nevus.

Autori: Aparício Martins, André Martins, Francisco Cardoso, José Carlos a ďalší

Zdroj: Pediatric Dermatology. Nov2025, p1. 4p. 4 Illustrations.

Predmety: *MELANOCYTES, *GENETIC mutation, *SOFT tissue tumors, *HISTOPATHOLOGY, *MOLECULAR biology, *MELANOMA

A Novel De NovoKDM3B Variant in the Youngest Reported Male Patient With Diets‐Jongmans Syndrome and Facial Asymmetry.

Autori: Jo, Somin Lee, Christine White, Lori a ďalší

Zdroj: Clinical Genetics. Nov2025, p1. 5p. 2 Illustrations.

Predmety: *GENETIC variation, *GENETIC mutation, *RARE diseases, *FACIAL abnormalities, *INTELLECTUAL disabilities, *DEVELOPMENTAL delay, *GENES, *GENETIC disorders