scholarly journals A familial case of cleidocranial dysplasia with a frameshift mutation in the Runt-related transcription factor 2 gene

2017 ◽  
Vol 46 ◽  
pp. 254-255
Author(s):  
N. Moritani ◽  
Y. Yoshioka ◽  
E. Yamachika ◽  
Y. Matsui ◽  
M. Tabata ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Frameshift Mutation ◽  
Familial Case ◽  
Cleidocranial Dysplasia ◽  
Related Transcription Factor

scholarly journals Cleidocranial dysplasia. A molecular and clinical review.

2018 ◽  
Vol 8 (1) ◽  
pp. 35-38
Author(s):  
Andrea Avendaño ◽  
Francisco Cammarata-Scalisi ◽  
Mochamad Fahlevi Rizal ◽  
Sarworini Bagio Budiardjo ◽  
Margaretha Suharsini ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Molecular Mechanisms ◽  
Target Genes ◽  
Autosomal Dominant ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Phenotypic Characteristics ◽  
Autosomal Dominant Disorder ◽  
Dental Abnormalities ◽  
Related Transcription Factor

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases leaving a large number of cases with no defined genetic cause which led us to delve into molecular mechanisms underlying CCD and thus to detect potential target genes to be explored in these patients. In this review we also highlight very broadly the phenotypic characteristics of previously reported patients with CCD.

Detection of deleted in malignant brain tumors 1 and runt-related transcription factor 3 gene expressions in bladder carcinoma

2011 ◽  
Vol 39 (4) ◽  
pp. 4691-4695 ◽  
Author(s):  
Yavuz Dodurga ◽  
Çığır Biray Avcı ◽  
N. Lale Satiroglu-Tufan ◽  
Canten Tataroglu ◽  
Zehra Kesen ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Brain Tumors ◽  
Bladder Carcinoma ◽  
Gene Expressions ◽  
Malignant Brain Tumors ◽  
Related Transcription Factor ◽  
Transcription Factor 3

scholarly journals Synergistic attenuation of ovariectomy-induced bone loss by combined use of fish oil and 17β-oestradiol

2017 ◽  
Vol 117 (4) ◽  
pp. 479-489 ◽  
Author(s):  
Youri Jin ◽  
Myoungsook Lee ◽  
Yongsoon Park
Keyword(s):  
Transcription Factor ◽  
Bone Loss ◽  
Protective Efficacy ◽  
Recovery Period ◽  
Serum Levels ◽  
Protective Mechanism ◽  
Beneficial Effects ◽  
Combined Use ◽  
Related Transcription Factor ◽  
Turnover Markers

AbstractOestrogen and n-3 PUFA, especially EPA and DHA, have been reported to have beneficial effects on bone loss. Thus, the purpose of the present study was to investigate the synergistic bone-protective mechanism of combined treatments of EPA+DHA supplementation and oestrogen injection in ovariectomised rats. Rats were fed a modified American Institute of Nutrition-93G diet with 0 %, 1 % or 2 % n-3 PUFA (EPA+DHA) relative to the total energy intake for 12 weeks. Rats were surgically ovariectomised at week 8, and after a 1-week recovery period rats were injected with either 17β-oestradiol-3-benzoate (E2) or maize oil for the last 3 weeks. Combined use of n-3 PUFA and E2 synergistically increased femoral cortical bone volume, bone mineral content and the bone expression of runt-related transcription factor 2 (RUNX2), but decreased the bone expression of IL-1β. Both n-3 PUFA and E2 decreased the bone expressions of IL-7, TNF-α and PPAR-γ, and increased the bone expression of oestrogen receptor-α. n-3 PUFA in the presence of E2 and E2 alone significantly decreased the bone expressions of IL-1β and IL-6 and increased the bone expression of RUNX2. E2 significantly decreased the serum levels of bone turnover markers and the bone expression of receptor activator of NF-κB ligand, but decreased the bone expression of osteoprotegerin. The combined use of n-3 PUFA and E2 exerted synergistic bone-protective efficacy through up-regulation of RUNX2, an essential transcription factor for bone formation, as well as the suppression of bone-resorbing cytokine IL-1β.

scholarly journals Alteration in the expression of MGMT and RUNX3 due to non-CpG promoter methylation and their correlation with different risk factors in esophageal cancer patients

Tumor Biology ◽  
2017 ◽  
Vol 39 (5) ◽  
pp. 101042831770163 ◽  
Author(s):  
Snigdha Saikia ◽  
Asad Ur Rehman ◽  
Prajjalendra Barooah ◽  
Preeti Sarmah ◽  
Mallika Bhattacharyya ◽  
...  
Keyword(s):  
Esophageal Cancer ◽  
Transcription Factor ◽  
Promoter Methylation ◽  
Messenger Rna ◽  
Dna Methyltransferase ◽  
Rna Expression ◽  
Betel Nut ◽  
Methylguanine Dna Methyltransferase ◽  
Related Transcription Factor ◽  
Transcription Factor 3

Promoter methylation reflects in the inactivation of different genes like O6-methylguanine-DNA methyltransferase DNA repair gene and runt-related transcription factor 3, a known tumor suppressor gene in various cancers such as esophageal cancer. The promoter methylation was evaluated for O6-methylguanine-DNA methyltransferase and runt-related transcription factor 3 in CpG, CHH, and CHG context (where H is A, T, or C) by next-generation sequencing. The methylation status was correlated with quantitative messenger RNA expression. In addition, messenger RNA expression was correlated with different risk factors like tobacco, alcohol, betel nut consumption, and smoking habit. CpG methylation of O6-methylguanine-DNA methyltransferase promoter had a positive association in the development of esophageal cancer (p < 0.05), whereas runt-related transcription factor 3 promoter methylation showed no significant association (p = 1.0) to develop esophageal cancer. However, the non-CpG methylation, CHH, and CHG were significantly correlated with O6-methylguanine-DNA methyltransferase (p < 0.05) and runt-related transcription factor 3 (p < 0.05) promoters in the development of esophageal cancer. The number of cytosine converted to thymine (C→T) in O6-methylguanine-DNA methyltransferase promoter showed a significant correlation between cases and controls (p < 0.05), but in runt-related transcription factor 3 no such significant correlation was observed. Besides, messenger RNA expression was found to be significantly correlated with promoter hypermethylation of O6-methylguanine-DNA methyltransferase and runt-related transcription factor 3 in the context of CHG and CHH (p < 0.05). The CpG hypermethylation in O6-methylguanine-DNA methyltransferase showed positive (p < 0.05) association, whereas in runt-related transcription factor 3, it showed contrasting negative association (p = 0.23) with their messenger RNA expression. Tobacco, betel nut consumption, and smoking habits were associated with altered messenger RNA expression of O6-methylguanine-DNA methyltransferase (p < 0.05) and betel nut consumption and smoking habits were associated with runt-related transcription factor 3 (p < 0.05). There was no significant association between messenger RNA expression of O6-methylguanine-DNA methyltransferase and runt-related transcription factor 3 with alcohol consumption (p = 0.32 and p = 0.15). In conclusion, our results suggest that an aberrant messenger RNA expression may be the outcome of CpG, CHG, and CHH methylation in O6-methylguanine-DNA methyltransferase, whereas outcome of CHG and CHH methylation in runt-related transcription factor 3 promoters along with risk factors such as consumption of tobacco, betel nut, and smoking habits in esophageal cancer from Northeast India.

scholarly journals Leukemia-related transcription factor TEL accelerates differentiation of Friend erythroleukemia cells

Oncogene ◽  
2003 ◽  
Vol 22 (1) ◽  
pp. 59-68 ◽  
Author(s):  
Kazuo Waga ◽  
Yuichi Nakamura ◽  
Kazuhiro Maki ◽  
Honoka Arai ◽  
Tetsuya Yamagata ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Erythroleukemia Cells ◽  
Related Transcription Factor ◽  
Friend Erythroleukemia Cells
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