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Eloisa Arbustini et al.
Human mutation, 26(5), 494-494 (2005-10-14)
Marfan Syndrome (MFS) is an autosomal dominant disorder of the connective tissue due to mutations of Fibrillin-1 gene (FBN1) in more than 90% of cases and Transforming Growth Factor-Beta-Receptor2 gene (TGFB2R) in a minority of cases. Genotyping is relevant for
R H Hill et al.
Environmental research, 71(2), 99-108 (1995-11-01)
We measured 12 analytes in urine of 1000 adults living in the United States to establish reference range concentrations for pesticide residues. We frequently found six of these analytes: 2,5-dichlorophenol (in 98% of adults); 2,4-dichlorophenol (in 64%); 1-naphthol (in 86%);
Douglas G Hayes et al.
Colloids and surfaces. B, Biointerfaces, 160, 144-153 (2017-09-19)
Bicontinuous microemulsions (BμEs), consisting of water and oil nanodomains separated by surfactant monolayers of near-zero curvature, are potentially valuable systems for purification and delivery of biomolecules, for hosting multiphasic biochemical reactions, and as templating media for preparing nanomaterials. We formed
K Nakajima et al.
The Journal of urology, 165(2), 612-615 (2001-02-15)
We tested the hypothesis that genotype changes in the promoter region of tumor necrosis factor-alpha and exon 1 are associated with renal cell carcinoma. We analyzed genotypic changes at the 3 polymorphic loci of tumor necrosis factor-alpha -238, -308 and
Xiaosong Ge et al.
Medical oncology (Northwood, London, England), 30(2), 588-588 (2013-05-04)
Long noncoding RNAs (lncRNA) are emerging as key molecules in human cancer. Prostate cancer-associated ncRNA transcripts 1 (PCAT-1), a lncRNA, has been recently revealed involving in human prostate cancer progression. However, whether PCAT-1 could serve as novel biomarker to predict
Nils Habbe et al.
Cancer biology & therapy, 8(4), 340-346 (2008-12-25)
Intraductal papillary mucinous neoplasms (IPMNs) are non-invasive precursor lesions of pancreatic cancer. Misexpression of microRNAs (miRNAs) is commonly observed in pancreatic adenocarcinoma. In contrast, miRNA abnormalities in pancreatic cancer precursor lesions have not been documented. Relative expression levels of a
Georgina S Butler et al.
The Journal of biological chemistry, 277(20), 17511-17519 (2002-03-14)
Mannose-binding lectin (MBL) plays a critical role in innate immunity. Point mutations in the collagen-like domain (R32C, G34D, or G37E) of MBL cause a serum deficiency, predisposing patients to infections and diseases such as rheumatoid arthritis. We examined whether MBL
J Braun et al.
Tissue antigens, 51(5), 563-566 (1998-07-22)
Graves' disease (GD) and Hashimoto's thyroiditis (HT) are T-cell mediated organ-specific autoimmune disorders with a genetic predisposition. The cytotoxic T-lymphocyte antigen 4 (CTLA-4) molecule is the predominant receptor for B7 on activated T cells and represents a negative regulator for
Ki-Hyuk Shin et al.
International journal of oncology, 21(5), 997-1001 (2002-10-09)
PTEN, a tumor suppressor gene, has been found to be inactivated by structural abnormalities or epigenetic changes in several types of human cancers. Recently, several studies have also suggested the possibility that the PTEN gene is a target of genomic
C G Bien et al.
European journal of neurology, 24(1), 175-186 (2016-10-28)
To clarify the relevance of titres of IgG antibodies against contactin-associated protein-2 (CASPR2) in diagnosing anti-CASPR2 encephalitis and to describe features and outcomes. This was a retrospective analysis of 64 patients with CASPR2 antibodies, categorized independently as 'autoimmune encephalitis' or
J F Gregory et al.
The Journal of nutrition, 130(12), 2949-2952 (2000-12-09)
Folate turnover involves urinary excretion, fecal excretion, and catabolism that involves cleavage of the C9-N10 bond to yield pterins and para-aminobenzoylglutamate (pABG). Little is known about the relationship between the function of folate pools and their rates of catabolism. We
Mark Okon et al.
FEBS letters, 517(1-3), 139-143 (2002-06-14)
The apolipoprotein A-I (apoA-I) solution structure in the presence of sodium dodecyl sulfate (SDS) was determined by combination of chemical shift index and torsion angle likelihood obtained from shift and sequence similarity methods. ApoA-I in lipid-mimetic solution is composed of
J T Powell et al.
Journal of applied physiology (Bethesda, Md. : 1985), 99(3), 1036-1040 (2005-08-17)
Aortic stiffness is a predictor of cardiovascular mortality. The mechanical properties of the arterial wall depend on the connective tissue framework, with variation in fibrillin-1 and collagen I genes being associated with aortic stiffness and/or pulse pressure elevation. The aim
Konstantinos Grintzalis et al.
Free radical research, 43(9), 803-808 (2009-06-24)
The time-related alterations of superoxide radical measured in vivo by employing an ultrasensitive fluorescent assay in the liver, intestine, kidney and brain of rats with experimentally induced obstructive jaundice was investigated. Eighteen rats were randomly divided into Group A, rats
Giuseppe Perrone et al.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 22(1), 71-78 (2008-10-07)
Caveolin-1 is the principal structural protein of caveolae, and caveolin-1 gene plays a role as a tumour suppressor gene in human mammary cancer-derived cells. However, limited data are available concerning caveolin-1 expression in human breast cancer tissue. We evaluated caveolin-1
C G Bien et al.
European journal of neurology, 24(1), 175-186 (2016-10-28)
To clarify the relevance of titres of IgG antibodies against contactin-associated protein-2 (CASPR2) in diagnosing anti-CASPR2 encephalitis and to describe features and outcomes. This was a retrospective analysis of 64 patients with CASPR2 antibodies, categorized independently as 'autoimmune encephalitis' or
Giovanna Crisante et al.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 28(11), 4792-4805 (2014-08-21)
Serine proteases, serine protease inhibitors, and protease-activated receptors (PARs) are responsible for several human skin disorders characterized by impaired epidermal permeability barrier function, desquamation, and inflammation. In this study, we addressed the consequences of a catalytically dead serine protease on
Katrin Blumbach et al.
The Journal of biological chemistry, 287(9), 6431-6440 (2012-01-03)
Mice with a combined deficiency in the α2β1 and α11β1 integrins lack the major receptors for collagen I. These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life. Dwarfism correlates with
S Araki et al.
Diabetes, 49(12), 2190-2195 (2000-12-16)
The goal of this study was to examine the association between known polymorphisms in the apolipoprotein E gene (APOE) and diabetic nephropathy (DN) in type 1 diabetes. We used both a case-control comparison and a family-based study design known as
Takuryu Sha et al.
Shock (Augusta, Ga.), 35(2), 205-209 (2010-08-20)
Sepsis is characterized by an excessive host response to infection. Toll-like receptors (TLRs) are essential for triggering this type of host immune response. Toll-like receptor 4 mediates recognition of LPS from gram-negative bacteria and is an important initiator of sepsis.
Gokhan Kus et al.
In vitro cellular & developmental biology. Animal, 51(10), 1056-1063 (2015-07-15)
Ceramidases are key enzymes that decrease ceramide levels in cells. A reduction in ceramide concentration impairs ceramide signalling, and results in apoptosis resistance in cancer cells. This study investigates the potential for ceranib-2, a novel ceramidase inhibitor, to affect the
Małgorzata Bednarska-Makaruk et al.
Journal of the neurological sciences, 324(1-2), 172-175 (2012-11-28)
Paraoxonase 1 (PON1) activity and metabolic syndrome traits were evaluated in 169 demented patients (81 recognized as AD, 32 as VaD, 56 as MD) and in 64 control individuals. Paraoxonase activity was determined spectrophotometrically using phenyloacetate as substrate. Metabolic syndrome
D G Schatz et al.
The New biologist, 4(3), 188-196 (1992-03-01)
The existence of somatic, site-specific recombination in the central nervous system (CNS) has long been hypothesized but has been difficult to investigate experimentally. The finding that RAG-1, which is thought to encode a component of the site-specific recombination machinery of
Maneesha Chhikara et al.
PloS one, 4(12), e8139-e8139 (2009-12-04)
Carbon monoxide (CO) is an endogenous messenger that suppresses inflammation, modulates apoptosis and promotes vascular remodeling. Here, microarrays were employed to globally characterize the CO (250 ppm) suppression of early (1 h) LPS-induced inflammation in human monocytic THP-1 cells. CO
H Saito et al.
Annals of oncology : official journal of the European Society for Medical Oncology, 24(4), 1067-1073 (2012-11-03)
We evaluated the efficacy and safety of single-dose fosaprepitant in combination with intravenous granisetron and dexamethasone. Patients receiving chemotherapy including cisplatin (≥70 mg/m(2)) were eligible. A total of 347 patients (21% had received cisplatin with vomiting) were enrolled in this
B A Amendt et al.
The Journal of clinical investigation, 79(5), 1303-1309 (1987-05-01)
We describe two patients with short-chain acyl-coenzyme A (CoA) dehydrogenase (SCADH) deficiency. Neonate I excreted large amounts of ethylmalonate and methylsuccinate; ethylmalonate excretion increased after a medium-chain triglyceride load. Neonate II died postnatally and excreted ethylmalonate, butyrate, 3-hydroxybutyrate, adipate, and
S J Mandriota et al.
Circulation research, 83(8), 852-859 (1998-10-20)
Angiopoietin-2 (Ang2) is a ligand for the endothelial cell tyrosine kinase receptor Tie2 and counteracts blood vessel maturation/stability mediated by angiopoietin-1 (Ang1), the other known ligand of Tie2. Using degenerate oligonucleotides and reverse transcriptase-polymerase chain reaction, we have screened bovine
Rute A Tomaz et al.
Clinical endocrinology, 77(6), 926-933 (2012-08-14)
FOXE1 is a transcription factor required for thyroid differentiation and function. FOXE1 locus polymorphisms (chromosome 9q22.33) were recently associated with increased sporadic thyroid cancer risk. In this study, we aimed to investigate the association of FOXE1 variants with nonmedullary thyroid
Tadashi Hasegawa et al.
Human pathology, 44(7), 1271-1277 (2013-01-08)
Previously, we showed that the expression of potassium channel tetramerization domain-containing 12 (KCTD12), which was discovered by a proteomics approach, is associated with high-risk behavior of gastrointestinal stromal tumors (GISTs). Here, we examined the distribution and expression of this protein
Jiandong Zhang et al.
American journal of physiology. Renal physiology, 301(4), F723-F732 (2011-07-29)
The limited antifibrotic effect of therapeutic angiotensin blockade, the fact that angiotensin blockade dramatically elevates renin levels, and recent evidence that renin has an angiotensin-independent, receptor-mediated profibrotic action led us to hypothesize that combining renin receptor inhibition and ANG II
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