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1.
Hematology ; 29(1): 2306444, 2024 Dec.
Article in English | MEDLINE | ID: mdl-38305210

ABSTRACT

Acute myeloid leukemia (AML) is the common blood cancer in hematopoietic system-related diseases and has a poor prognosis. Studies have shown that long non-coding RNAs (lncRNAs) are closely related to the pathogenesis of a variety of diseases, including AML. However, the specific molecular mechanism remains unclear. Hence, the objective of this study was to investigate the effect and mechanism of lncRNA X inactive specific transcript (lncRNA XIST) on AML. To achieve our objective, some tests were performed. Quantitative real-time polymerase chain reaction (qRT-PCR) was utilized to detect the expression of lncRNA XIST, miR-142-5p and the platelet isoform of phosphofructokinase (PFKP). The targeting relationship between miR-142-5p and lncRNA XIST and PFKP was verified by Pearson correlation analysis, dual-luciferase reporter assay, and pull-down assay. Functional experiments were used to analyze the effect and mechanism of action of knocking down lncRNA XIST on THP-1 and U937 cells. Compared with bone marrow cells, lncRNA XIST and PFKP expression levels were up-regulated and miR-142-5p expression levels were down-regulated in AML. Further analysis revealed that lncRNA XIST targeted and bound to miR-142-5p, and PFKP was a target gene of miR-142-5p. Knockdown of lncRNA XIST significantly promoted miR-142-5p expression to down-regulate PFKP in THP-1 and U937 cells, while the cell proliferation, cell viability, and cell cycle arrest were inhibited and apoptosis was increased. Knockdown of miR-142-5p reversed the functional impact of lncRNA XIST knockdown on AML cells. In conclusion, down-regulation of lncRNA XIST can affect the progression of AML by regulating miR-142-5p.


Subject(s)
Leukemia, Myeloid, Acute , MicroRNAs , RNA, Long Noncoding , Humans , Apoptosis/genetics , Cell Proliferation/genetics , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/pathology , MicroRNAs/genetics , MicroRNAs/metabolism , Phosphofructokinases , RNA, Long Noncoding/genetics , RNA, Long Noncoding/metabolism , Gene Knockdown Techniques
2.
BMJ Case Rep ; 12(2)2019 Feb 22.
Article in English | MEDLINE | ID: mdl-30798276

ABSTRACT

This 37-year-old man presented with left sided facial warmth and numbness associated with new sudden-onset right hemiparesis. The patient first developed sudden numbness of his left lip and warmth in left ear which travelled to the rest of left face. His past medical history was significant for hypertension, Hodgkin lymphoma treated with radiation therapy at the age of 10, and sleeve gastrectomy for obesity 1 year ago complicated by bilateral ischaemic cerebral infarctions with residual left hemiparesis. No acute infarcts were found on MRI. Transesophageal echocardiography revealed a complex atheroma near the sinotubular junction in ascending aorta.


Subject(s)
Aortic Valve/physiology , Heart Valve Diseases/diagnosis , Paresis/etiology , Stroke/diagnosis , Adult , Anticholesteremic Agents/therapeutic use , Aortic Valve/diagnostic imaging , Aspirin/therapeutic use , Echocardiography, Transesophageal , Factor Xa Inhibitors/therapeutic use , Heart Valve Diseases/drug therapy , Heart Valve Diseases/physiopathology , Humans , Male , Paresis/physiopathology , Rivaroxaban/therapeutic use , Rosuvastatin Calcium/therapeutic use , Stroke/drug therapy , Stroke/physiopathology , Treatment Outcome
3.
Zhonghua Nan Ke Xue ; 17(1): 32-7, 2011 Jan.
Article in Chinese | MEDLINE | ID: mdl-21351529

ABSTRACT

OBJECTIVE: To analyze the mutation of the KAL1 gene in male patients with idiopathic hypogonadotropic hypogonadism (IHH). METHODS: We analyzed the exon mutation of the KAL1 gene in 30 IHH patients using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with the PCR product direct sequencing technique. RESULTS: Three cases of the KAL1 gene mutation were found among the total number of patients, including 1 case of nonsense mutation (c. 1270C > T,p. R424X), and 2 cases of frameshift mutation, (c. 279_280delAG,p. G94fs) and (c. 1886_1887delTT,p. L629fs). CONCLUSION: Of the 3 cases of the KAL1 gene mutation we detected, 2 are new and 1 already reported in the literature. The results of our study have provided valuable information on the molecular genetics of the IHH syndrome.


Subject(s)
Extracellular Matrix Proteins/genetics , Hypogonadism/genetics , Mutation , Nerve Tissue Proteins/genetics , Adolescent , Adult , Base Sequence , Child , DNA Mutational Analysis , Exons , Humans , Kallmann Syndrome/genetics , Male , Polymorphism, Single-Stranded Conformational , Young Adult
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