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排序方式: 共有774条查询结果,搜索用时 41 毫秒
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Tekin M Kavaz A Berberoğlu M Fitoz S Ekim M Ocal G Akar N 《American journal of medical genetics. Part A》2004,(3):284-287
We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. 相似文献
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Langerhans dendritic cells are antigen presenting cells (APC) that reside within the epidermis and are capable of stimulating naive T cells. Reciprocally, lymphocytes may play a role in Langerhans cells (LC) differentiation. Our results show that the differentiation of skin LC is unaffected in the absence of lymphocytes and/or signaling through the common cytokine receptor gamma chain (gammac) required for IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21 signaling. Migration of LC and other dendritic cells (DC) from the skin to the draining lymph nodes (LNs) after FITC skin sensitization, is unaffected in the absence of lymphocytes or CD40. FITC+ LC/DC sorted from the LNs of lymphoid deficient or control mice stimulated naive T cells with similar efficiency. However, while the absence of lymphocytes did not appear to affect the phenotype or number of emigrating LN DC/LC, their persistence in the LN appears to depend on alphabeta T cells. Thus, DC are strikingly reduced in numbers in the peripheral LNs of T-cell deficient mice. Finally, CD8alpha expression on skin emigrants was low and dependent on the presence of CD8+ lymphocytes, while spleen CD8+ DC were present in the absence of lymphocytes. We conclude that the presence of T cells is not required for the differentiation and migration of resident skin DC but is critical for the maintenance of DC and LC migrating into the LNs. 相似文献
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Molecular Characterization of a Full Genome Turkish Hepatitis C Virus 1b Isolate (HCV-TR1): A Predominant Viral Form in Turkey 总被引:1,自引:0,他引:1
Based on direct sequencing information from 5UTR and NS5B regions, we identified subtype 1b as a predominant hepatitis C virus genome in Turkey, which affected more than 91% of 79 patients studied. Next, the full genome sequence of a Turkish 1b isolate was obtained by the cloning of polypeptide-encoding region into 7 overlapping fragments. Turkish 1b isolate, which was named HCV-TR1, comprises 9361 nucleotides, including 306 nucleotides of 5UTR, a single long open reading frame of 9033 nucleotides, and 22 nucleotides of 3UTR. When compared to HCV 1b polypeptide sequences available at GenBank, the predicted polypeptide displayed a total of 36 amino acid substitutions, of which 16 was specific for HCV-TR1 isolate. Despite these changes, major structural and functional motifs of HCV proteins were maintained in HCV-TR1. In contrast, HCV-TR1 displayed amino acid substitutions in 6 out of 9 major cytotoxic T-cell epitopes. These data suggest that HCV-TR1 encodes functionally intact viral proteins, but it also encodes altered viral epitopes, which may affect host immune-response. 相似文献
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Interaction between a peroxisome proliferator-activated receptor gamma gene polymorphism and dietary fat intake in relation to body mass 总被引:5,自引:0,他引:5
Memisoglu A Hu FB Hankinson SE Manson JE De Vivo I Willett WC Hunter DJ 《Human molecular genetics》2003,12(22):2923-2929
The peroxisome proliferator-activated receptor gamma (PPAR gamma) is a critical regulator of adipogenesis. PPAR gamma+/- mice are resistant to high-fat diet-induced obesity and thus PPAR gamma may mediate physiological responses to dietary fat in other mammals. The aim of this study was to determine whether the human PPAR gamma proline to alanine substitution polymorphism (Pro12Ala) modifies the association between dietary fat and adiposity and plasma lipids. Subjects (n=2141) were controls selected for three case-control studies nested within the Nurses' Health Study, a large ongoing prospective cohort study. Associations between intake of total fat, fat subtypes and BMI were different in PPAR gamma 12Ala variant allele-carriers compared with non-carriers. Among homozygous wild-type Pro/Pro individuals, those in the highest quintile of total fat intake, had significantly higher mean body mass index (BMI) compared with those in the lowest quintile (27.3 versus 25.4 kg/m2, respectively; P-trend<0.0001) whereas among 12Ala variant allele-carriers there was no significant trend observed between dietary fat intake and BMI (P-trend=0.99; P-interaction=0.003). In contrast, intake of monounsaturated fat was not associated with BMI among homozygous wild-type women but was inversely associated with BMI among 12Ala variant allele-carriers (mean in lowest quintile=27.6 versus mean in highest quintile=25.5 kg/m2; P-trend=0.006; P-interaction=0.003). The relationship between dietary fat intake and plasma lipid concentrations also differed according to PPAR gamma genotype. These data suggest that PPAR gamma genotype is an important factor in physiological responses to dietary fat in humans. 相似文献
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Burak Tekin MD Mehmet Salih Gurel MD Zeynep Topkarci MD Filiz Topaloglu Demir MD Sema Aytekin MD Filiz Cebeci Kahraman MD Ralfi Singer MD Vefa Asli Erdemir MD Tugba Kevser Uzuncakmak MD Sirin Yasar MD Necmettin Akdeniz MD Ilknur Kivanc Altunay MD Emek Kocaturk MD Zafer Turkoglu MD Bilgen Erdogan MD 《Pediatric dermatology》2018,35(5):651-659
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Asli Gamze Sener İlhan Afsar Mustafa Demirci 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2014,122(12):1167-1170
The presence of antinuclear antibodies (ANAs), directed against intracellular antigens, is a hallmark of systemic autoimmune rheumatic diseases. The indirect immunofluorescence (IIF) assay is among the most commonly used routine methods for ANA detection as the screening test. The objective of the study was to evaluate ANA patterns in a 4‐year period retrospectively. All 19 996 serum samples that were sent to the Laboratory of Medical Microbiology of the tertiary Hospital by any hospital department between 1 January 2009 and 1 January 2013 with a request to test for ANA, anti‐ENA or both were included in the study. Of these samples, 4375 (21.9%) were ANA‐IIF‐positive and 15621 (78.1%) were ANA‐IIF‐negative. The presented ANA‐positive samples consisted of 2392 (54.67%) homogenous, 818 (18.70%) speckled, 396 (9.05%) centromere, 242 (5.53%) nucleolar, 213 (4.87%) nuclear dots, 178 (4.07%) cytoplasmic (except for actin and golgi), 24 (0.55%) actin, 9 (0.21%) golgi, 53 (1.21%) nuclear membrane and 50 (1.14%) mixed pattern. Totally 7800 samples were examined by LIA. Of these samples, 3440 were positive and 4307 were negative with IIF and LIA. In addition, 22 samples were detected as IIF‐positive but LIA‐negative, whereas the rest 31 samples were IIF‐negative but LIA‐positive. ANA patterns in 22 IIF‐positive samples were homogenous (9), speckled (5), golgi (4), cytoplasmic (3) and nucleolar (1). SSA/Ro‐52, SSB/La and Scl‐70 positivity were detected in 31 IIF‐negative/LIA‐positive samples by LIA. The present study comes forward with its overall scope, which covers 4‐year data obtained in tertiary hospital located in the western part of Turkey. 相似文献
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Gonenc Kocabay MD Serdar Yilmazer MD Yetkin Korkmaz MD Asli Karadeniz MD Nilufer Eksi Duran MD 《Echocardiography (Mount Kisco, N.Y.)》2017,34(1):141-142
We report a case of cyst was initially labeled as left ventricular noncompaction cardiomyopathy. An accurate diagnosis is essential to establish the most effective treatment strategy. In particular, echocardiographic examination assists in identifying the correct diagnosis. In this case, two‐dimensional and three‐dimensional echocardiography and computed tomography were used for definitive diagnosis of cardiac hydatid cyst. 相似文献