• To investigate further the clinical and mutational spectrum

  2023-02-13

  

  To investigate further the clinical and mutational spectrum associated with -related dyskinesia, we here performed a screen in a large series of patients affected with an unexplained hyperkinetic movement disorder, resulting in the identification of 2 pediatric patients presenting with a novel pheno

• Introduction Adenosine kinase ADK ATP adenosine

  2023-02-13

  

  Introduction Adenosine kinase (ADK; ATP: adenosine 5′-phosphotransferase, EC 2.7.1.20), is isolated from yeast cells by Kornberg for the first time in 1951 [1]. ADK belongs to the ribokinase protein family and is one of the most abundant nucleoside kinases in mammalian tissues [2,3]. As the first i

• The AChR is composed of five homologous membrane

  2023-02-13

  

  The AChR is composed of five homologous, membrane-spanning subunits. AChRs containing two α, one β, one δ and one γ subunit (AChRγ) predominate during embryonic development and mice lacking AChRγ die at birth (Takahashi et al., 2002). After birth, the AChRγs are replaced during the first 2 postnatal

• 94 8 Recent findings imply that proper Na K ATPase function

  2023-02-10

  

  Recent findings imply, that proper Na+/K+-ATPase function is crucial for unimpaired development of the vertebrate heart. Targeted knockout of Na+/K+-ATPase α1 in mice led to early embryonic lethality whereas heterozygous knockout mice displayed severe hypocontractile hearts [52]. Pharmacological inh

• br Introduction Lung cancer is the leading cause of

  2023-02-10

  

  Introduction Lung cancer is the leading cause of cancer death worldwide and is one of the most refractory of solid tumors along with pancreatic cancer. Since 1975 there have been notable improvements in the 5-year survival rate of patients with lung cancer [1]. This improvement in survival is tho

• br Conclusions In summary the

  2023-02-10

  

  Conclusions In summary, the present results showed that ageing diminished arginase activity only in clearance tissues and that l-arginine supplementation did not induce major changes in arginase activity thus refuting a role of arginase in the potential deleterious effects of l-arginine supplemen

• br Concluding remarks It is clear that a disordered

  2023-02-10

  

  Concluding remarks It is clear that a disordered l-arginine homeostasis by changes in arginase, NOS and ADMA activity and expression, is not only vital in the chronic airway diseases, LIMKi 3 and COPD, but also seems to play an important role in many co-morbidities. Unknown, however, is whether

• Wound healing without blastema formation causes partial rest

  2023-02-10

  

  Wound healing without blastema formation causes partial restoration of lost tissue, and gives rise to fibrotic scars. Healing by fibrotic scarring rather than by regeneration leads to tissue dysfunction, and can place a huge burden for the health of the animal [4]. Therefore, understanding the molec

• br Materials and methods br Results br

  2023-02-10

  

  Materials and methods Results Discussion Pulmonary fibrosis is a progressive and chronic lung disease and its typical features include 3-Methyladenine proliferation, epithelial injury, chronic interstitial inflammation, increased extracellular matrix (ECM) production, and collapse of alveo

• To date attention has been directed

  2023-02-10

  

  To date, attention has been directed towards new molecular targets in luminal phenotype (ER-positive), such as CDK4/6 and, to a lesser extent, androgen receptor (AR) pathways [8]. While the role of CDK4/6 has been elucidated and their inhibitors have shown a benefit in luminal BC, the role of AR in

• Cells have developed strategies aiming to

  2023-02-08

  

  Cells have developed strategies aiming to enhance both the efficiency of proteins with chaperone activity as well as their overall antioxidant capacity to maintain proteostasis under oxidative stress conditions (Miyata et al., 2012). For instance, 2-Cys peroxiredoxin is an abundantly expressed, anti

• In vivo CA mediate hypoxic nutritional

  2023-02-08

  

  In vivo CA mediate hypoxic, nutritional, and neurologic stress responses. Stimulation of ADRα2A by these hormones to reduce β-cell metabolism has an obvious role in suppressing insulin secretion (Arun, 2004). Since β-cell metabolism and insulin secretion are linked, mechanisms that inhibit metabolis

• br Experimental procedure br Introduction Migraine

  2023-02-08

  

  Experimental procedure Introduction Migraine is a debilitating neurovascular disorder characterized by recurring unilateral pulsating headaches of moderate to severe intensity, associated with nausea, photophobia and/or phonophobia, lasting from 4 to 72 h (Headache Classification Committee of

• Although the effects of adenosine receptor

  2023-02-08

  

  Although the effects of adenosine receptor signaling in acute renal IRI have been attributed to the generation of high concentrations of adenosine, we have recently reported an increase in kidney levels of both AMP and adenosine, with a concomitant fall in ATP and ADP. We have also previously demons

• Patients with ADA SCID may experience

  2023-02-08

  

  Patients with ADA-SCID may experience autoimmune AEs after SCT (and/or during ERT) that are thought to be related to immune dysregulation prior to achieving complete immune reconstitution. The more common autoimmune manifestations include hemolytic anemia, hypothyroidism, and immune thrombocytopenia

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