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排序方式: 共有10000条查询结果,搜索用时 15 毫秒
991.
Nuno Maia Nekane Ibarluzea Mala Misra-Isrie Daniel C. Koboldt Isabel Marques Gabriela Soares Rosário Santos Carlo L. M. Marcelis Riikka Keski-Filppula Miriam Guitart Elisabeth Gabau Vila April Lehman Scott Hickey Mari Mori Paulien Terhal Irene Valenzuela Amaia Lasa-Aranzasti Anna Maria Cueto-González Brian H. Chhouk Rebecca C. Yeh Jennifer E. Neil Bassam Abu-Libde Tjitske Kleefstra Mariet W. Elting Andrea Császár Judit Kárteszi Beáta Bessenyei Hans van Bokhoven Paula Jorge Johanna M. van Hagen Arjan P. M. de Brouwer 《American journal of medical genetics. Part A》2023,191(1):135-143
We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.993, χ2 test), but mostly outside the functional domains (p = 0.004; χ2 test). Statistical analyses did not show a correlation between the MED12-related phenotypes and the locations of the variants (p = 0.295; Pearson correlation), nor the protein domain involved (p = 0.422; Pearson correlation). In conclusion, establishing a genotype–phenotype correlation in MED12-related diseases remains challenging. Therefore, we think that patients with a causative MED12 variant are currently underdiagnosed due to the broad patients' clinical presentations. 相似文献
992.
Joshua A. Mott Isabel Bergeri Hannah C. Lewis Anthony W. Mounts Sylvie C. Briand 《Influenza and other respiratory viruses》2023,17(3):e13122
It is impossible to address the many complex needs of respiratory virus surveillance with a single system. Therefore, multiple surveillance systems and complementary studies must fit together as tiles in a “mosaic” to provide a complete picture of the risk, transmission, severity, and impact of respiratory viruses of epidemic and pandemic potential. Below we present a framework (WHO Mosaic Respiratory Surveillance Framework) to assist national authorities to identify priority respiratory virus surveillance objectives and the best approaches to meet them; to develop implementation plans according to national context and resources; and to prioritize and target technical assistance and financial investments to meet most pressing needs. 相似文献
993.
994.
In recent years, a large group of familial epilepsies and hereditary ataxias have emerged, caused by an extraordinary type of a novel pentanucleotide repeat expansion that has arisen in a preexisting nonpathogenic repeat tract. Remarkably, these insertions have occurred in noncoding regions of genes expressed in the cerebellum, but with highly diverse functions. These conditions, clinically very heterogeneous, may remain underdiagnosed in patients with atypical phenotypes and age at onset. They share, however, many genetic and phenotypic features, and discovery or detection of their pathogenic pentanucleotide repeats for diagnostic purposes can be achieved using recent bioinformatic methods. Here, we focus on the latest advances regarding the peculiar group of pentanucleotide repeat-related disorders beyond epilepsies. 相似文献
995.
996.
Antonio Lahera Laura Vela-Martín Pilar López-Nieva Rocío N. Salgado Sandra Rodríguez-Perales Raúl Torres-Ruiz José L. López-Lorenzo Javier Cornago Pilar Llamas Pablo Fernández-Navarro Rebeca Sánchez-Domínguez José C. Segovia Isabel Sastre María Á. Cobos-Fernández Pablo Menéndez Javier Santos José Fernández-Piqueras María Villa-Morales 《British journal of haematology》2023,202(3):693-698
997.
Lu Jui-fen Rachel Chen Ying Isabel Eggleston Karen Chen Chih-Hung Chen Brian 《The European journal of health economics》2023,24(5):717-733
The European Journal of Health Economics - Pay-for-Performance (P4P) to better manage chronic conditions has yielded mixed results. A better understanding of the cost and benefit of P4P is needed... 相似文献
998.
999.
Puerto M Gutiérrez-Praena D Prieto AI Pichardo S Jos A Miguel-Carrasco JL Vazquez CM Cameán AM 《Ecotoxicology (London, England)》2011,20(2):479-490
The increasing occurrence of toxic cyanobacterial blooms in eutrophic water bodies is nowadays of worldwide concern due to
their ability to produce toxins such as microcystins (MCs). These cyanobacterial toxins have been shown to affect aquatic
organisms such as fish, resulting in oxidative stress. Among the antioxidant enzymes, glutathione peroxidase (GPx) and soluble
glutathione-S-transferases (sGST) play an important role in the detoxification of MCs. In the present work tilapia (Oreochromis
niloticus) were orally exposed to cyanobacterial cells containing MCs and non-containing MCs for 21 days. The activity and relative
mRNA expression by real-time PCR of both enzymes and the GST protein abundance by Western blot analysis were evaluated in
liver and kidney. Also the induction of lipid peroxidation (LPO) was assayed. MCs containing cyanobacterial cells induced
an increase of LPO products in both organs, and MCs containing and MCs non-containing cyanobacterial cells altered the activity,
gene expression and protein abundance of the enzymes, indicating the importance of GPx and sGST in MCs detoxification. Moreover,
liver, the main organ involved in biodegradation and biotransformation, experienced an adaptative response to the toxic insult.
These results show for the first time that the subchronic exposure to cyanobacterial cells causes changes in antioxidant and
detoxification enzymes and that GPx and GST gene expression are good markers of these alterations in tilapia. 相似文献
1000.
Marta Martínez-Gil José Miguel Quesada María Isabel Ramos-González María Isabel Soriano Ricardo E. de Cristóbal Manuel Espinosa-Urgel 《Research in microbiology》2013,164(5):382-389
The extracellular matrix of bacterial biofilms has at least two key functions: to serve as a structural scaffold for the multicellular community, and to play a protective role against external stress. In this work, we report a compensatory effect whereby Pseudomonas putida reacts to the lack of either of the two main surface proteins involved in biofilm formation, LapA and LapF, by increasing expression and production of a species-specific EPS. Elevated levels of the second messenger molecule cyclic di-GMP alter the balance of extracellular matrix components, and the phenotypes of lapA and lapF mutants under these conditions are indicative of direct interactions taking place between large secreted proteins and exopolysaccharides. Our data suggest the existence of a mechanism by which bacteria would sense alterations in the composition of the extracellular matrix, leading to changes in expression of the different elements. 相似文献