Results 111 to 120 of about 226,034 (265)

Genetic Syndromes Associated with Craniosynostosis

Journal of Korean Neurosurgical Society, 2016
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management.
openaire   +2 more sources

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Genetic analyses reveal a role for vitamin D insufficiency in HCV-associated hepatocellular carcinoma development [PDF]

, 2013
Background: Vitamin D insufficiency has been associated with the occurrence of various types of cancer, but causal relationships remain elusive. We therefore aimed to determine the relationship between genetic determinants of vitamin D serum levels and ...
Jörg Bojunga, Stéphanie Bibert (3279381), Lange, Christian M., Mullhaupt, B., Ochi Hidenori, Thomas Berg (186372), Müller Tobias, Ochi, H., David Semela (416437), Gouttenoire, J., Müllhaupt, Beat, Kenichi Morikawa (416434), Nischalke, Hans-Dieter, Ulrich Spengler (205545), Ochi, Hidenori, Lange, Christian M, Dufour, J. F., David Semela, Malinverni Raffaele, Meri Gorgievski-Hrisoho (416435), Bochud Pierre-Yves, Francesco Negro (205592), Semela, David, Beat Müllhaupt (416436), Nischalke, H. D., Chayama, Kazuaki, Bochud, P. Y., Gouttenoire Jérôme, Negro, F., Cerny, A., Zoltan Kutalik, Kazuaki Chayama (128675), Lange, Christian, Negro Francesco, Pierre-Yves Bochud, Morikawa, Kenichi, Bibert, S., Malinverni, R., Spengler, U., Bibert, Stéphanie, Moradpour, Darius, Darius Moradpour (15815), Bochud, P.Y., Dufour, J.F., Hans-Dieter Nischalke (416433), Heim Markus H., Raffaele Malinverni (316140), Jean-François Dufour, Meri Gorgievski-Hrisoho, Berg Thomas, Miki, D., Vinciguerra, Manlio, Hidenori Ochi (128649), Gorgievski-Hrisoho, M., Andreas Cerny, Dufour, Jean-François, Kazuaki Chayama, Ulrich Spengler, Heim, M. H., Muller, T., Hans-Dieter Nischalke, Francesco Negro, Gorgievski-Hrisoho, Meri, Berg, Thomas, Markus H Heim, Darius Moradpour, Chayama, K., Kenichi Morikawa, Miki Daiki, Dufour Jean-François, Pierre-Yves Bochud (205597), Daiki Miki (128628), Miki, Daiki, Raffaele Malinverni, Bojunga Jörg, Jérôme Gouttenoire, Spengler Ulrich, Berg, T., Nischalke, H.D., Hidenori Ochi, Spengler, Ulrich, Cerny Andreas, Kutalik, Z., Zoltan Kutalik (3965672), Andreas Cerny (189787), Christian M Lange, Gouttenoire, Jérôme, Dufour, Jean-François Jacques, Gorgievski, Meri, Thomas Berg, Malinverni, Raffaele, Moradpour Darius, Beat Müllhaupt, Semela David, Daiki Miki, Chayama Kazuaki, Bojunga, Jörg, Stéphanie Bibert, Gorgievski-Hrisoho Meri, Tobias Müller (163591), Swiss Hepatitis C Cohort Study Group, Christian M. Lange (316130), Bojunga, J., Kutalik Zoltan, Tobias Müller, Lange, C. M., Lange Christian M., Cerny, Andreas, Markus H. Heim (237987), Lange, C.M., Kutalik, Zoltán, Heim, M.H., Nischalke Hans-Dieter, Moradpour, D., Morikawa, K., Semela, D., Jörg Bojunga (316147), Morikawa Kenichi, Negro, Francesco, Müller, Tobias, Hiroshima Liver Study Group, Bochud, Pierre-Yves, Bibert Stéphanie, Heim, Markus H., Müllhaupt Beat, Heim, Markus H, Jérôme Gouttenoire (235184), Jean-François Dufour (5654965)   +127 more
core   +1 more source

Lack of association between VNTR polymorphism of dopamine transporter gene (SLC6A3) and schizophrenia in a Brazilian sample Ausência de associação entre o polimorfismo VNTR do gene do transportador de dopamina (SLC6A3) e esquizofrenia em uma população brasileira

Arquivos de Neuro-Psiquiatria, 2004
A role of dopaminergic dysfunction has been postulated in the aetiology of schizophrenia. We hypothesized that variations in the dopamine transporter gene (SLC6A3) may be associated with schizophrenia.
Quirino Cordeiro, Michael Talkowski, Joel Wood, Eliza Ikenaga, Homero Vallada   +4 more
doaj   +1 more source

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

Metabolic syndrome in inflammatory bowel disease: Association with genetic markers of obesity and inflammation

, 2019
Metabolic syndrome (MS) and inflammatory bowel disease (IBD) share common pathophysiological features including chronic inflammation in visceral adipose tissue. However, the interplay of these two pathologies is still unraveled.
Stanković, Biljana, Klaassen, Kristel, Dragašević, Sanja, Kotur, Nikola, Pavlović, Sonja, Sržentić Drazilov, Sanja, Popović, Dragan   +6 more
core  

Prospective genetic screening decreases the incidence of Abacavir hypersensitivity reactions in the Western Australian HIV cohort study

, 2005
Abacavir therapy is associated with significant drug hypersensitivity in ∼8% of recipients, with retrospective studies indicating a strong genetic association with the HLA-B*5701 allelle.
McKinnon, E., Martin, A., Nolan, D., Rauch, A, Almeida, C., McKinnon, E, Rauch, A., Martin, A, Almeida, C, Nolan, D, Mallal, Simon, Mallal, S.   +11 more
core   +1 more source

Web Usage Mining with Evolutionary Extraction of Temporal Fuzzy Association Rules [PDF]

, 2013
In Web usage mining, fuzzy association rules that have a temporal property can provide useful knowledge about when associations occur. However, there is a problem with traditional temporal fuzzy association rule mining algorithms. Some rules occur at the
Gongora, Mario A., Matthews, Stephen G., Gongora, Mario Augusto, Hopgood, Adrian, Hopgood, Adrian A., Ahmadi, Samad   +5 more
core   +1 more source

Lack of association between the G681C polimorphism in the 5-HT1Dbeta autoreceptor gene and schizophrenia Ausência de associação entre o polimorfismo G861C do gene do auto-receptor 5-HT1Dbeta e esquizofrenia

Arquivos de Neuro-Psiquiatria, 2005
A major role of the serotonergic system has been hypothesized in the pathogenesis of schizophrenia, mostly based on the evidence of action of atypical antipsychotics.
Quirino Cordeiro, Homero Vallada
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source