Xem 1-20 trên 24 kết quả Huntington’s disease
  • Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Failure to confirm influence of Methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease

    pdf3p panasonic01 13-12-2011 21 2   Download

  • Tham khảo sách 'huntington’s disease – core concepts and current advances edited by nagehan ersoy tunali', y tế - sức khoẻ, y học thường thức phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

    pdf566p bachtuocpaul 15-04-2013 24 2   Download

  • Funny turns and chest pain – funny turns are an unusual presentation for cardiac disease in children, much more commonly associated with simple faints, or neurological disease such as epilepsy. Sudden collapse may be due to arrhythmias, and collapse with exercise is a very worrying sign in a child with significant left ventricular outflow tract obstruction such as aortic stenosis. Most chest pain in children is due to musculoskeletal problems, especially in older children. Coronary artery abnormalities, and hence chest pain due to angina, is rare.

    pdf24p connhobinh 10-12-2012 24 1   Download

  • Almost half of the patients experience arthritis in the hips or the shoulders. Up to 30% of the patients suffer from small joint involvement with swelling, pain and stiffness in the inflamed joints. Often these appear as asymmetrical oligoarthritis. Usually they are non- erosive, but deformity and consequently destruction of the hips have been seen. An early involvement of peripheral joints can be an indicator of a more aggressive progress. Peripheral joint involvement can occur at any stage of the disease (Sieper J, Braun J, Rudwaleit M, Boonen A, Zink A) (Gladman DD). ...

    pdf566p wqwqwqwqwq 23-07-2012 20 7   Download

  • The neurons of the corpus striatum receive an excitatory input from the cerebral cortex and the thalamus. The major outputs project to the globus pallidus and the substantia nigra pars reticula (SNr), and use gamma-aminobutyric acid (GABA) as a transmitter. Major efferent pathways from the globus pallidus interna and the SNr project to the thalamus. Feedback to the striatum is through the dopaminergic striatonigral pathway originating in the substantia nigra pars compacta (SNc; Figure 1). These separate pathways utilize different neuropeptides and dopamine receptors.

    pdf81p crius75 04-01-2013 24 4   Download

  • Nucleotide Repeat Expansion Disorders Several diseases are associated with an increase in the number of nucleotide repeats above a certain threshold (Table 62-6). The repeats are sometimes located within the coding region of the genes, as in Huntington disease or the X-linked form of spinal and bulbar muscular atrophy (SBMA, Kennedy syndrome). In other instances, the repeats probably alter gene regulatory sequences. If an expansion is present, the DNA fragment is unstable and tends to expand further during cell division.

    pdf5p konheokonmummim 03-12-2010 31 3   Download

  • Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Gait dynamics in mouse models of Parkinson's disease and Huntington's disease

    pdf13p panasonic03 16-12-2011 20 3   Download

  • Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành hóa học dành cho các bạn yêu hóa học tham khảo đề tài: Gait dynamics in mouse models of Parkinson's disease and Huntington's disease

    pdf13p panasonic08 06-01-2012 26 3   Download

  • How variations in genes contribute to variations in disease risk has been a subject of study for more than 100 years (IOM, 2006). Until fairly recently research focused on single genes that give rise to rare genetic diseases such as cystic fibrosis or Huntington’s disease.

    pdf103p mnemosyne75 02-02-2013 16 3   Download

  • A large number of neurodegenerative diseases in humans result from pro-tein misfolding and aggregation. Protein misfolding is believed to be the primary cause of Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, Creutzfeldt–Jakob disease, cystic fibrosis, Gaucher’s disease and many other degenerative and neurodegenerative disorders.

    pdf19p inspiron33 26-03-2013 10 3   Download

  • Huntington’s disease (HD) is an inherited neurodegenerative disorder characterized by cortico-striatal dysfunction and loss of glutamate uptake. At 7 weeks of age, R6/2 mice, which model an aggressive form of juvenile HD, show a glutamate-uptake deficit in striatum that can be reversed by treatment with ceftriaxone, a b-lactam antibiotic that increases GLT1 expression. Only at advanced ages ( 11 weeks), however, do R6/2 mice show an actual loss of striatal GLT1. Here, we tested whether ceftriaxone can reverse the decline in GLT1 expression that occurs in older R6/2s.

    pdf5p toshiba23 18-11-2011 20 2   Download

  • After the successful cloning of the first gene for a polyglutamine disease in 1991, the expanded polyglutamine tract in the nine polyglutamine disease proteins became an obvious therapeutic target. Early hypotheses were that misfolded, precipitated protein could be a universal pathogenic mechanism. However, new data are accumulating on Huntington’s disease and other polyglutamine diseases that appear to contradict the toxic aggregate hypothesis.

    pdf11p galaxyss3 07-03-2013 15 2   Download

  • Autophagy is a nonspecific bulk degradation pathway for long-lived cyto-plasmic proteins, protein complexes, or damaged organelles. This process is also a major degradation pathway for many aggregate-prone, disease-cau-sing proteins associated with neurodegenerative disorders, such as mutant huntingtin in Huntington’s disease. I

    pdf8p galaxyss3 07-03-2013 13 2   Download

  • Huntingtin protein (Htt), whose mutation causes Huntington’s disease (HD), interacts with large numbers of proteins that participate in diverse cellular pathways. This observation indicates that wild-type Htt is involved in various cellular processes and that the mutated Htt alters these processes in HD.

    pdf9p galaxyss3 07-03-2013 19 2   Download

  • Recently, we reported that the transient expression of huntingtin exon1 polypeptide containing polyglutamine tracts of various sizes (httEx1-polyQ) in cell models of Huntington disease generated an oxidative stress whose intensity was CAG repeat expansion-dependent.

    pdf14p inspiron33 23-03-2013 7 2   Download

  • Huntington’s disease (HD) is a progressive neurodegenerative disorder characterized by multifarious dysfunctional alterations including mitochon-drial impairment. In the present study, the formation of inclusions caused by the mutation of huntingtin protein and its relationship with changes in energy metabolism and with pathological alterations were investigated both in transgenic and 3-nitropropionic acid-treated mouse models for HD.

    pdf16p inspiron33 23-03-2013 8 2   Download

  • Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học quốc tế cung cấp cho các bạn kiến thức về ngành y đề tài: Connecting the dots in Huntington’s disease with protein interaction networks...

    pdf5p thulanh19 09-11-2011 12 1   Download

  • Neurodegenerative disorders are common and devastating. Rationally, the most effective treatments will target pathogenetic mechanisms. While alternative approaches, based on alleviating the symptoms of patients with Alzheimer disease, Parkinson disease, Huntington disease, prion disorders or amyotrophic lateral sclerosis, can be expected to reduce suffering, studies of pathogenesis of these agerelated disorderswill be most important for enabling early diagnosis and the creation of preventative and curative treatments.

    pdf199p crius75 04-01-2013 16 1   Download

  • Loss of cannabinoid receptors (CB1) occurs prior to neuro-degeneration in Huntington’s disease (HD). The levels and distribution of CB1 RNA were equivalent in 3-week-old mice regardless of genotype demonstrating that the specific factors and appropriate chromatin structure that lead to the transcription ofCB1were present in the striatum of young R6/2 and R6/1 transgenic HD mice.

    pdf12p awards 05-04-2013 16 1   Download

  • Neurodegenerative disorders, such as Huntington’s, Alzheimer’s, and Parkinson’s diseases, affect millions of people worldwide and currently there are few effective treatments and no cures for these diseases. Transgenic mice expressing human transgenes for huntingtin, amyloid precursor protein, and other genes associated with familial forms of neurodegenerative disease in humans provide remarkable tools for studying neurodegeneration because they mimic many of the pathological and behavioural features of the human conditions. ...

    pdf15p awards 06-04-2013 14 1   Download

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