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X-linked Adrenoleukodystrophy
  • Language: en
  • Pages: 137

X-linked Adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder is characterized by a huge clinical variability both in the age of onset and in symptoms. The two main forms are the childhood cerebral ALD (ccALD) characterized by inflammatory demyelination of the central nervous system, and the adult form called adrenomyeloneuropathy (AMN), characterized by a non-inflammatory slowly progressive demyelination affecting spinal cord and peripheral nerves. Adrenal insufficiency is usually associated with the nervous symptoms, X-ALD being the main cause of Addison's ...

Peroxisomal Disorders and Regulation of Genes
  • Language: en
  • Pages: 434

Peroxisomal Disorders and Regulation of Genes

In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.

The Journal of Cell Biology
  • Language: en
  • Pages: 570

The Journal of Cell Biology

  • Type: Book
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  • Published: 2005
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  • Publisher: Unknown

No. 2, pt. 2 of November issue each year from v. 19 (1963)-47 (1970) and v. 55 (1972)- contain the Abstracts of papers presented at the Annual Meeting of the American Society for Cell Biology, 3d (1963)-10th (1970) and 12th (1972)-

Watershed Evaluation of Beneficial Management Practices WEBs
  • Language: en
  • Pages: 160

Watershed Evaluation of Beneficial Management Practices WEBs

  • Type: Book
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  • Published: 2010
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  • Publisher: Unknown

The Watershed Evaluation of Beneficial Management Practices (WEBs) project was initiated in April 2004 to assess the environmental and economic performance of selected agricultural beneficial management practices (BMPs) at seven small watersheds across Canada. This report summarizes the progress and findings of the first four years of the WEBs project, from May 2004 to August 2007.--Includes text from document.

The Left's Jewish Problem
  • Language: en
  • Pages: 222

The Left's Jewish Problem

New, updated edition of an important and timely critique of Anti-Jewish sentiment on the left. There is a sickness at the heart of left-wing British politics, and in recent years it has silently spread, becoming ever more malignant. Today, it seems hard to believe that until the 1980s, the British left was broadly pro-Israel. And while Jeremy Corbyn's leadership may have thrown a harsher spotlight on the crisis, it is by no means a recent phenomenon. The widening gulf between British Jews and the anti-Israel left, now allying itself with Islamist extremists who demand Israel's destruction, did not happen overnight or by chance: political activists made it happen. This book reveals who they were, why they chose Palestine and how they sold their cause to the left. Based on new academic research, Dave Rich's nuanced and thoughtful guide brings fresh insight to an increasingly fraught debate. As the question becomes more urgent than ever, this new, fully updated edition, taking in events since 2016, provides an essential guide to the left's increasingly controversial 'Jewish problem'.

The Molecular Biology of Neurofibromatosis Type 1
  • Language: en
  • Pages: 81

The Molecular Biology of Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues o...

IGARSS 2002
  • Language: en
  • Pages: 814

IGARSS 2002

  • Type: Book
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  • Published: 2002
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  • Publisher: Unknown

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Architecture intérieure-Créé
  • Language: fr
  • Pages: 556

Architecture intérieure-Créé

  • Type: Book
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  • Published: 1999
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  • Publisher: Unknown

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Annuaire national des universités
  • Language: fr
  • Pages: 1096

Annuaire national des universités

  • Type: Book
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  • Published: 2011
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  • Publisher: Unknown

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