نتایج جستجو برای: aberrant phenotype
تعداد نتایج: 189478 فیلتر نتایج به سال:
Oscillatory activity in neural populations and temporal synchronization within these populations are important mechanisms contributing to perception and cognition. In schizophrenia, perception and cognition are impaired. Aberrant gating of irrelevant sensory information, which has been related to altered oscillatory neural activity, presumably contributes to these impairments. However, the link...
Background and Objectives: Staphylococcus aureus is an important cause of nosocomial and community-acquired infections in every region of the world. Clindamycin is one of the alternative agents used to treat S. aureus infections and accurate identification of clindamycin resistance is important to prevent therapeutic failure. Unfortunately, inducible clindamycin resistance is ...
The CUP-SHAPED COTYLEDON (CUC) genes (CUC1, CUC2 and CUC3) regulate organ boundary formation in Arabidopsis. However, the functions of their homologous rice (Oryza sativa) are still unknown. Here, we have identified an orthologous gene CUC1 rice, named OsNAM. Subcellular localization yeast two-hybrid assay results suggested that OsNAM encodes a conserved nuclear NAC (NAM/ATAF1/CUC2) protein wit...
Leukocyte adhesion deficiency (LAD) is a heritable deficiency of the LFA-1, Mac-1, p150,95 family of leukocyte alpha beta heterodimers (the leukocyte integrins). We have studied the defect in patients who synthesize an aberrantly small form of the beta subunit common to all three proteins. S1 nuclease protection showed the presence of a 90-nucleotide mismatch in RNA from patients and relatives,...
High mobility group AT-hook 2 (HMGA2) is an architectural transcription factor that is negatively regulated by let-7 microRNA through binding to it's 3'-untranslated region. Transgenic mice expressing Hmga2 with a truncation of its 3'-untranslated region has been shown to exhibit a myeloproliferative phenotype. To decipher the let-7-HMGA2 axis in myeloproliferative neoplasms, we employed an in ...
BACKGROUND Cigarette smoke, the major risk factor for COPD, is known to activate matrix metalloproteinases in airway epithelium. We investigated whether metalloproteinases, particularly A Disintegrin and Metalloproteinase (ADAM)17, contribute to increased pro-inflammatory epithelial responses with respect to the release of IL-8 and TGF-α, cytokines implicated in COPD pathogenesis. METHODS We ...
DNA copy number alterations are a hallmark of cancer. Understanding their role in tumor progression can help improve diagnosis, prognosis and therapy selection for cancer patients and can contribute to the development of personalised therapies. High-resolution, genome-wide measurements of DNA copy number changes for large cohorts of tumors are currently available, owing to the rapid development...
Genetic abnormalities of cholangiocarcinoma have been widely studied; however, epigenomic changes related to cholangiocarcinogenesis have been less well characterized. We have profiled the DNA methylomes of 28 primary cholangiocarcinoma and six matched adjacent normal tissues using Infinium's HumanMethylation27 BeadChips with the aim of identifying gene sets aberrantly and epigenetically regula...
Inactivation of methylcytosine dioxygenase, ten-eleven translocation (TET) is known to be associated with aberrant DNA methylation in cancers. Tumors with a CpG island methylator phenotype (CIMP), a distinct subgroup with extensive DNA methylation, show characteristic features in the case of colorectal cancer. The relationship between TET inactivation and CIMP in colorectal cancers is not well ...
Maple syrup urine disease (MSUD) or branched-chain a -ketoaciduria is an autosomally inherited disorder in the catabolism of branched-chain amino acids leucine, isoleucine, and valine. The disease is characterized by severe ketoacidosis, mental retardation, and neurological impairments. MSUD can be classified into genetic subtypes according to the genes of the branched-chain a -ketoacid dehydro...
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