نتایج جستجو برای: 9 bp deletion
تعداد نتایج: 604247 فیلتر نتایج به سال:
A total of 226 index cases from high-risk hereditary breast and ovarian cancer families of German origin who had tested negative for small nucleotide alterations in BRCA1 and BRCA2 were analyzed for gross genomic rearrangements at the two gene loci by the multiplex ligation-dependent probe amplification technique. Six large genomic alterations were identified in BRCA1, while no gross rearrangem...
The aim of this paper is identification of regulatory sequences downstream of -1683 base pairs (bp) in the rat Col1a1 promoter important for expression in osteoblasts. Previous findings suggest that a rat Col1a1 gene fragment extending from -1719 to + 115 bp linked to the chloramphenicol acetyl transferase (CAT) reporter gene (ColCAT1719) is highly and selectively expressed in osteoblasts. Thre...
We report that diabetic patients with both (a) persistent hyperglycaemia, indicated by HbAlC > 9% of total haemoglobin (Hb) and (b) clinically evident microor macro-vascular disease have a significant increase in the number of detached vascular endothelial cells circulating in their blood relative to age-matched diabetic controls without vascular disease. We find that circulating endothelial ce...
The expression of the leukotoxin of Aggregatibacter actinomycetemcomitans is regulated by the leukotoxin promoter. A 530-bp deletion or an 886-bp insertion sequence (IS) element in this region has earlier been described in highly leukotoxic isolates. Here, we report on highly leukotoxic isolate with a 640-bp deletion, which was detected in an adolescent of Ethiopian origin.
C-repeat-binding factor (CBF)/dehydration-responsive element (DREB) transcription factors play key roles in plant stress responses. However, little information is available on the regulation of CBF/DREB expression. In this study, we isolated and characterized the FeDREB1 promoter sequence from the common buckwheat accession Xinong 9976. To identify the upstream region of the FeDREB1 gene requir...
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature aging, ocular and cutaneous photosensitivity with increased risk of tumors. XP caused mutations in DNA repair genes that protect cells from UV-induced damage. The current study aims to investigate, on clinical genetic basis, Moroccan patients. We explored dire...
In the course of molecular studies on Japanese glucose-6-phosphate dehydrogenase (G6PD) variants using single-strand conformation polymorphisms (SSCP) analysis, we found an unusual class 1 G6PD variant that had nucleotide deletion in exon 9. The patient showed chronic nonspherocytic hemolytic anemia associated with frequent episodes of severe hemolytic attack. The hemolysate exhibited no measur...
The induction and regulation of broodiness is of the most important role of prolactin in avian species.The promoter region of the prolactin gene is an appropriate model for studying tissue-specific andhormonally-regulated activation of gene transcription. In this study, the association between prolactinpromoter region alleles and egg production in Fars native chickens was investigated. In total...
RATIONALE Mutations in MYBPC3 encoding cardiac myosin binding protein C are common genetic cause of hereditary cardiac myopathies. An intronic 25-bp deletion in MYBPC3 at 3' region is associated with dilated (DCM) and hypertrophic (HCM) cardiomyopathies in Southeast Asia. However, the frequency of MYBPC3 25 bp deletion and associated clinical presentation has not been established in an unrelate...
Fetal hemoglobin (HbF) is regulated as a multigenic trait. By genome-wide association study, we confirmed that HBS1L-MYB intergenic polymorphisms (HMIP) and BCL11A polymorphisms are highly associated with HbF in Chinese β-thalassemia heterozygotes. In this population, the variance in HbF resulting from the HMIP is 13.5%; that resulting from the BCL11A polymorphism is 6.4%. To identify the funct...
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