نتایج جستجو برای: aberrant phenotype
تعداد نتایج: 189478 فیلتر نتایج به سال:
Dystrophic epidermolysis bullosa (DEB) is an inheritable blistering disease caused by mutations in COL7A1, which encodes type VII collagen. To address the issue of genotype-phenotype correlations DEB, analyzing consequences COL7A1 using mRNA indispensable. Herein we established a novel method for testing effect DEB extracted from peripheral blood mononuclear cells (PBMCs). We investigated four ...
common treatment for buccal gingival recession caused by an aberrant frenal attachment includes elimination of the frenum and treatment of the gingival recession by soft tissue graft to increase the width of the attached gingiva that in turn results in root coverage. keratinised gingival, if present in adequate amount, maintains the gingival health by protecting the marginal gingiva. this not o...
Alternative splicing can alter genome sequence and as a consequence, many genes change to oncogenes. This event can also affect protein function and diversity. The growing number of study elucidate the pathological influence of impaired alternative splicing events on numerous disease including cancer. Here, we would like to highlight the significant role of alternative splicing in cancer biolog...
background:there is no comprehension data on anatomicalindices of nigerian goats. objectives: to show osteometricvalues of some cranial indices in nigerian goats. methods:sixty (60) goat skulls that were found around makurdi, kwande,katsina-ala and the neighbouring adamawa state of nigeria,were studied by investigating the 30 craniometric values.results: the measured distance from the facial tu...
introduction dendritic cells (dcs) are bone marrow-derived cells, which migrate to lymphoid and non-lymphoid organs via blood. liver dcs are believed to play an important role in the regulation of hepatic allograft acceptance. however, because of inherent difficulties in isolating adequate numbers of dcs from liver, limited information is available on the phenotype and functions of liver dcs. t...
Cytogenetic analysis of melanoma and nonmelanoma skin cancers has revealed recurrent aberrations, the frequency of which is reflective of malignant potential. Highly aberrant karyotypes are seen in melanoma, squamous cell carcinoma, actinic keratosis, Merkel cell carcinoma and cutaneous lymphomas with more stable karyotypes seen in basal cell carcinoma, keratoacanthoma, Bowen's disease and derm...
The insulin-like growth factor I receptor (IGF-IR) is a transmembrane tyrosine kinase that is essential to growth and development and also thought to provide a survival signal for the maintenance of the transformed phenotype. There has been increasing interest in further understanding the role of IGF-I signaling in cancer and in developing receptor antagonists for therapeutic application. We de...
Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing DRS and deafness. Using genotype-phenotype correlations in humans and Mafb-knockout mice, we propose a threshold mo...
Narrowed intervertebral disc (IVD) space is a characteristic of IVD degeneration. EP sclerosis is associated with IVD, however the pathogenesis of EP hypertrophy is poorly understood. Here, we employed two spine instability mouse models to investigate temporal and spatial EP changes associated with IVD volume, considering them as a functional unit. We found that aberrant mechanical loading lead...
Tumor cells preferentially use anaerobic glycolysis rather than oxidative phosphorylation to generate energy. Hexokinase II (HK-II) is necessary for anaerobic glycolysis and displays aberrant expression in malignant cells. The current study aimed to evaluate the role of HK-II in the survival and biological function of nasopharyngeal carcinoma (NPC). Our study demonstrated that high expression o...
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