Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
GATA2 mutation is associated with immune dysfunction and increased Mycobacterium haemophilum susceptibility in immunocompromised individuals.
Gupta A et al.
Jci Insight, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
Novel Mutations in Acute Erythroid Leukemia-A Case Report with Review of Literature.
Jena D et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
High frequency of GATA2 variants in patients with pulmonary fungal disease without immunocompromised risk factors: a retrospective study.
Zhuansun Y et al.
Journal of Thoracic Disease, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Successful allogeneic hematopoietic stem cell transplantation for myelodysplastic neoplasms complicated with secondary pulmonary alveolar proteinosis and Behçet's disease harboring GATA2 mutation.
Sato Y et al.
International Journal of Hematology, 2023
Extreme Gradient Boosting Tuned with Metaheuristic Algorithms for Predicting Myeloid NGS Onco-Somatic Variant Pathogenicity.
Pellegrino E et al.
Bioengineering (basel, Switzerland), 2023
Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.
Perani A et al.
Frontiers in Oncology, 2023
Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.
Tsukahara S et al.
Scientific Reports, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
GATA2 rs2335052 and GATA2 rs78245253 single-nucleotide polymorphisms in Chinese patients with acute myelocytic leukemia.
Fang F et al.
International Journal of Laboratory Hematology, 2021
Germline mutations among Polish patients with acute myeloid leukemia.
Bąk A et al.
Hereditary Cancer in Clinical Practice, 2021
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Acute myeloid leukemia associated with a novel GATA2 mutation: a case report and the importance to identify GATA2 haplodeficiency.
Mendes-de-Almeida DP et al.
Leukemia & Lymphoma, 2020
Frequency and characteristics of the JAK2 V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis.
Ma Q
The Journal of International Medical Research, 2020
Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report.
Blanco ML et al.
Clinical Case Reports, 2020
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ et al.
Leukemia, 2020
SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.
Li J et al.
Frontiers in Genetics, 2020
TP53 deficiency permits chromosome abnormalities and karyotype heterogeneity in acute myeloid leukemia.
Cazzola A et al.
Leukemia, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report.
Bosch-Vilaseca A et al.
Clinical Case Reports, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.
Liu F et al.
Therapeutic Advances in Medical Oncology, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
GATA2 zinc finger 1 mutations are associated with distinct clinico-biological features and outcomes different from GATA2 zinc finger 2 mutations in adult acute myeloid leukemia.
Tien FM et al.
Blood Cancer Journal, 2018
Mutation profiling by targeted sequencing of "triple-negative" essential thrombocythaemia patients.
Ju M et al.
British Journal of Haematology, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
GATA2 gene analysis in several forms of hematological malignancies including familial aggregations.
Hamadou WS et al.
Annals of Hematology, 2017
Novel near-diploid ovarian cancer cell line derived from a highly aneuploid metastatic ovarian tumor.
Rozenblum E et al.
Plos One, 2017
Peripheral blood cell-free DNA is an alternative tumor DNA source reflecting disease status in myelodysplastic syndromes.
Suzuki Y et al.
Cancer Science, 2016