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101.
Michael Muriello Alexander Y. Kim Krista Sondergaard Schatz Natalie Beck Meral Gunay‐Aygun Julie E. Hoover‐Fong 《American journal of medical genetics. Part A》2019,179(3):410-416
We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. In addition to expanding the phenotype of Feingold 2 syndrome, we suggest management of patients with Feingold 2 syndrome include echocardiography at the time of diagnosis in all patients and consideration of evaluation for growth hormone deficiency in patients with short stature. 相似文献
102.
甘露聚糖结合凝集素(MBL)系胶原凝集素家族成员,是天然免疫系统中的重要分子。血清MBL浓度受其结构基因第一外显子几个点突变的影响和启动子区多态性的调控。MBL基因突变使其血清浓度降低,除导致调理吞噬缺损外,还与自身免疫性疾病如系统性红斑狼疮、类风湿性关节炎、干燥综合征、皮肌炎、克隆病、动脉炎等有关。 相似文献
103.
H. Sinzinger J. Flores F. Rauscha 《Journal of molecular medicine (Berlin, Germany)》1988,66(17):779-783
Summary A screening investigation for the presence of risk factors for the development of atherosclerosis demonstrates a plasma factor deficiency in 0,8% in the Viennese population. These findings are in agreement with the data of a newborn screening performed earlier. All the persons were clinically healthy. In 4 of them at least 1 family member suffered from the same defect. The pathogenetic relevance of the plasma factor defect for thrombophilia at young age is discussed.
Abkürzungsverzeichnis VIP Viennese Initiative for Prostaglandin - PGI2 Prostazyklin - PG Prostaglandin - PF Plasmafaktor - PRP pättchenreiches Plasma - HUS hämolytischurämisches Syndrom - PF4 Plättchenfaktor 4 - TG Thromboglobulin - TXB2 Thromboxan B2 Diese Untersuchung im Rahmen des VIP(VienneseInitiative forProstaglandin)-Screenings wurde vom Medizinisch-Wissenschaftlichen Fonds des Bürgermeisters der Bundeshauptstadt Wien unterstützt 相似文献
Abkürzungsverzeichnis VIP Viennese Initiative for Prostaglandin - PGI2 Prostazyklin - PG Prostaglandin - PF Plasmafaktor - PRP pättchenreiches Plasma - HUS hämolytischurämisches Syndrom - PF4 Plättchenfaktor 4 - TG Thromboglobulin - TXB2 Thromboxan B2 Diese Untersuchung im Rahmen des VIP(VienneseInitiative forProstaglandin)-Screenings wurde vom Medizinisch-Wissenschaftlichen Fonds des Bürgermeisters der Bundeshauptstadt Wien unterstützt 相似文献
104.
饮食性缺铜、缺锌对小鼠细胞因子产生的影响 总被引:1,自引:0,他引:1
3周龄小鼠饲用6周缺铜饮食后,出现胸腺萎缩、肝脏肿大以及明显的缺铜指征,包括血清Cp活性、肝Cu含量、CCO和Cu,Zn-SOD活性明显下降。缺钢小鼠产生的TNF-α、IL-1和IL-6水平明显低于正常组小鼠。小鼠饲予7周缺锌饮食后,出现明显脱毛,虽然肝Zn含量降低不明显,但TNF-α、IL-1和IL-6活性明显降低,说明上述细胞因子是小鼠缺锌的敏感指征之一。本文结果显示正常Cu、Zn水平对TNF-α、IL-1和IL-6产生的重要性,并提示这些细胞因子的改变可能是缺铜、缺锌引起的免疫功能损害的细胞、分子学机理之一。 相似文献
105.
Summary Yeast strains bearing a deficiency in trehalose-6-phosphate synthase activity are unable to accumulate trehalose on any carbon source unless they contain one of the MAL genes. If the gene is inducible then synthesis of trehalose occurs specifically during growth on maltose when the MAL gene is constitutive then trehalose accumulation can also be seen when cells are grown on glucose. Different systems for trehalose synthesis were suggested: one of them would require the UDPG-linked trehalose synthase whereas the second would utilize an alternative pathway. We proposed a mechanism by which the gene-product of a MAL gene would serve as a common positive regulator for the expression of the genes coding for maltose permease, -glucosidase and some component of the trehalose accumulation system. In order to elucidate this novel pathway a strain lacking UDPG-linked trehalose synthase activity and harboring a defect in maltose uptake was constructed. Excessive maltose uptake resulted in accumulation of intracellular maltose, and twice as much trehalose as in a control strain. Partial inhibition of hexokinase by xylose affected the ratio between internal maltose and trehalose and significantly reduced glycogen synthesis. Sodium fluoride also blocked glycogen synthesis but allowed for trehalose accumulation. Moreover, a mutant which lacks hexokinase I and II was unable to accumulate trehalose when grown on glucose in spite of the presence of a constitutive MAL2 gene. These results suggest that trehalose synthesis would require G-6-P formation derived from maltose. Such a deviation would allow for slowing down the glycolytic flux which, in turn, would favour efficient maltose utilization. Therefore, trehalose synthesis during growth in media containing glucose serves as an additional parameter for assessing constitutivity of MAL genes. 相似文献
106.
Lodewyckx L Vandevyver C Vandervorst C Van Steenbergen W Raus J Michiels L 《Human mutation》2001,18(3):243-250
A method for mutation detection in the alpha-1 antitrypsin gene (protease inhibitor 1; PI) has been developed using denaturing gradient gel electrophoresis of PCR amplified gene fragments. Using this experimental approach, all common phenotypes and mutations could be detected. Denaturing gradient gel electrophoresis (DGGE) was compared with standard isoelectric focusing (IEF) in 20 potential alpha1-antitrypsin deficient patients and their relatives. The genotype determined by DGGE was found to be more reliable in some cases than IEF, which is essential for a proper diagnosis of alpha-1 antitrypsin malfunctioning. 相似文献
107.
δ-aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency 总被引:1,自引:0,他引:1
The inheritance of a deficient delta-aminolevulinic acid dehydrase (ALA-D; synonym: porphobilinogen synthase; EC 4.2.1.24) was studied in blood samples of two families over three generations. The propositus in each family was a young male acute hepatic porphyria patient with an almost complete ALA-D deficiency in the homozygous state (ALA-D activity less than 2% of controls). Heterozygotes are clinically non-affected (mean ALA-D 36% of controls). The mode of transmission could be traced by enzyme activity and electrophoretic polymorphism studies. Heterozygotes are detected by the demonstration of enzyme activity in the gel. The notation D was used for the gene expressing the defective enzyme. The "phenotype" D-1 was observed in six, the "phenotype" D-2 in three of all heterozygotes studied. These results are compatible with a single normal allele in heterozygotes responsible for enzyme activity. Quantitative assays and the segregation pattern in both families suggest a 3-allele-system for the inheritance of ALA-D deficiency. 相似文献
108.
109.
Two sisters from a large consanguineous Turkish family with Sanfilippo C disease presented within the first 2 years of life. They had coarse facial features, organomegaly and discrete radiological signs of dysostosis multiplex. Urinary glycosaminoglycan excretion was elevated, heparan sulfate being the major component. The uptake of radioactive sulfate into fibroblasts from both patients was abnormal. A deficiency of acetylCoA: alpha-glucosamine transferase was demonstrated in fibroblasts from one patient. To our knowledge, this is the first report of the disease presenting in early infancy. 相似文献
110.
Jehane Fadlallah Delphine Sterlin Claire Fieschi Christophe Parizot Karim Dorgham Hela El Kafsi Gaëlle Autaa Pascale Ghillani-Dalbin Catherine Juste Patricia Lepage Marion Malphettes Lionel Galicier David Boutboul Karine Clément Sébastien André Florian Marquet Christophe Tresallet Alexis Mathian Guy Gorochov 《The Journal of allergy and clinical immunology》2019,143(4):1575-1585.e4