Clinical genetics articles within Nature Communications

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• Article
  14 February 2012 | Open Access

  PPARγ contributes to PKM2 and HK2 expression in fatty liver

  Molecular factors, regulating the expression of specific glycolytic enzymes that favour biosynthetic processes, have remained unknown. Panasyuket al. identify PPARγ as a novel transcription factor turning on pyruvate kinase M2 and hexokinase 2, which are frequently upregulated in pathophysiological growth.

  • Ganna Panasyuk
  • , Catherine Espeillac
  •  & Mario Pende

• Article | 10 January 2012

  Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

  Hereditary haemorrhagic telangiectasia (HTT) is caused by mutations in TGFβ/bone morphogenetic protein signalling genes. Here, Benzinouet al. show that variants of PTPN14, a gene within a mouse Tgfb1 modifier locus, associate with pulmonary arteriovenous malformation in HTT patients, shedding light on the molecular aetiology of this disease.

  • Michael Benzinou
  • , Frederic F. Clermont
  •  & Rosemary J. Akhurst

• Article
  18 January 2011 | Open Access

  PAR2 absence completely rescues inflammation and ichthyosis caused by altered CAP1/Prss8 expression in mouse skin

  The activity of serine proteases, including CAP1/Prss8, is altered in some human skin disorders; however, the downstream effectors of these proteins are relatively unknown. Here, using animal models, the authors show that protease-activated receptor-2 is a critical component of the CAP1/Prss8 signalling cascade.

  • Simona Frateschi
  • , Eric Camerer
  •  & Edith Hummler

• Article | 12 April 2010

  Sirt1 improves healthy ageing and protects from metabolic syndrome-associated cancer

  Ageing associated diseases are the subject of intense study. In this article Serrano and colleagues demonstrate that Sirt1 over-expression in mice prevents both ageing associated diseases and liver cancer.

  • Daniel Herranz
  • , Maribel Muñoz-Martin
  •  & Manuel Serrano