Molecular genetic studies rely on well-characterized organisms that can be easily manipulated. Arabidopsis thaliana--the model system of choice for plant biologists--allows efficient analysis of plant function, combining classical genetics with molecular biology. Although the complete sequence of the Arabidopsis genome allows the rapid discovery of the molecular basis of a characterized mutant, functional characterization of the Arabidopsis genome depends on well-designed forward genetic screens, which remain a powerful strategy to identify genes that are involved in many aspects of the plant life cycle.
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http://dx.doi.org/10.1038/nrg730 | DOI Listing |
Zhonghua Xue Ye Xue Za Zhi
December 2024
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.
Minimal residual disease (MRD), a crucial biomarker for assessing efficacy and predicting recurrence, refers to residual tumor cells remaining in the body of patients with hematological malignancies who achieved complete remission after treatment. This study aimed to conduct a retrospective analysis of the clinical diagnosis, treatment, and MRD monitoring of a pediatric patient with multiple acute B-lymphocytic leukemia relapses, alongside a review of relevant literature. In this case, Ig rearrangement based on next-generation sequencing (NGS) was more accurate in assessing the MRD level, compared with the traditional method of MRD detection, indicating the risk of earlier relapse and guided interventions in time.
View Article and Find Full Text PDFZhonghua Xue Ye Xue Za Zhi
December 2024
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.
This study aimed to primarily discuss the pathogenesis of hereditary coagulation factor Ⅴ (FⅤ) deficiency in a family with a consanguineous cousin marriage. The coagulation indices of the pedigree (three generations with seven individuals) and the thrombin levels of the proband and his father were assessed. All exons of the F5 gene were analyzed with Sanger sequencing, and a new mutation was confirmed with reverse sequencing.
View Article and Find Full Text PDFClin Biochem
January 2025
Health Department, El Colegio de la Frontera Sur, Carretera a Reforma Km. 15.5 s/n Ra, Guineo 2da. Sección, Villahermosa, Tabasco 86280, Mexico. Electronic address:
Introduction: Dyslipidemia is characterized by changes in lipid and lipoprotein levels in the blood where phospholipid transfer protein (PLTP) helps to regulate and modulate the size of high-density lipoproteins (HDL), working on the reverse transport of cholesterol. ApoA-1 is the primary protein component of HDL, and certain genetic variants like rs5072, have been associated with hypertriglyceridemia in children. This study aimed to explore the association between PLTP concentrations and the effect of the genetic variant APOA1 rs5072 on hypertriglyceridemia and atherogenic dyslipidemia (AD) in the pediatric population of Southeastern Mexico.
View Article and Find Full Text PDFESMO Open
January 2025
Translational Genomics and Targeted Therapies in Solid Tumors group, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain; Institute of Cancer and Blood Diseases, Hospital Clinic of Barcelona, Barcelona, Spain; Reveal Genomics, Barcelona, Spain. Electronic address:
Background: The infiltration of tumor-infiltrating B cells and plasma cells in early-stage breast cancer has been associated with a reduced risk of distant metastasis. However, the influence of B-cell tumor infiltration on overall patient survival remains unclear.
Materials And Methods: This study explored the relationship between an antitumor immune response, measured by a 14-gene B-cell/immunoglobulin (IGG) signature, and mortality risk in 9638 breast cancer patients across three datasets.
Sleep Med
December 2024
Department of Neurology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, Henan Province, China. Electronic address:
Fatal familial insomnia (FFI) is a rare autosomal dominant neurodegenerative disorder characterized by rapidly progressive dementia, severe sleep disturbances, and autonomic dysfunction. The clinical manifestations of FFI can exhibit substantial variations, making it crucial to rule out other conditions, such as autoimmune encephalitis and Creutzfeldt-Jakob disease, during early diagnosis. In this study, we describe the case of a 58-year-old man who experienced persistent insomnia, autonomic symptoms, gait instability, and rapidly progressive dementia.
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