http://books.mcgraw-hill.com/medical/ommbid/blog This blog is intended to create discussion that leads to a better understanding of diseases of human mutation. Mon, 27 Jul 2009 14:52:52 +0000 http://backend.userland.com/rss092 en A gene encoding a protein essential for the assembly of succinate dehydrogenase has been implicated in an infantile leukoencephalopathy. Nat Genet. 2009 May 24. [Epub ahead of print] SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Ghezzi D et al. Click this link to see the most recent ... http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1303 Nat Genet. 2009 Jun;41(6):651-3. Epub 2009 May 3. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Guernsey DL et al. These investigators form Nova Scotia describe a new form of sideroblastic anemia caused by a mutation in a mitochondrial carrier. The gene was identified by positional cloning. Click ... http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1302 Am J Hum Genet. 2009 May;84(5):558-66. Epub 2009 Apr 16. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Duncan AJ et al. This group from the UK describes a new form of coQ10 deficiency, a potentially treatable condition. Click this link to see ... http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1301 Molecular Genetics and Metabolism Article in Press The shortness of Pygmies is associated with severe under-expression of the Growth Hormone Receptor Mauro Bozzola et al. In this article, the authors observed a markedly reduced GHR gene expression in adult Pygmies, while the genetics cause for this remains to be uncovered. Click this link to see ... http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1298 Mol Genet Metab. 2009 Jun;97(2):102-8. Epub 2009 Feb 27. Lentiviral-mediated correction of MPS VI cells and gene transfer to joint tissues. Byers S, Rothe M, Lalic J, Koldej R, Anson DS. In this publication, the authors use a lentivirus to tranduce human fibroblasts and chondrocytes, as well as the synovial membrane and the ... http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1297 The ASHG 2009 meeting will take place on Tuesday, October 20 to Saturday, October 24, 2009 in Honolulu, Hawaii at the Hawaii Convention Center. http://www.ashg.org/2009meeting/ See you there, Philippe Campeau http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1296 Mol Genet Metab. 2009 Mar;96(3):97-105. Epub 2009 Jan 12. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong  ... http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1295 The 11th International Congress on Inborn Errors of Metabolism hosted by the Society of Inherited Metabolic Disorders (SIMD) August 29th - September 02, 2009 San Diego, California, USA at the Manchester Grand Hyatt Hotel. www.iciem2009.org see you there! Philippe campeau http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1292 Nat Genet. 2008 Oct;40(10):1230-4. Epub 2008 Sep 21. Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Hartong DT, Dange M, McGee TL, Berson EL, Dryja TP, Colman RF. We still have things to learn about the Krebs cycle.... Indeed, by studying families with Retinitis Pigmentosa, Hartong and colleagues ... http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1290 11th International Congress of Inborn Errors of Metabolism (ICIEM), San Diego, California, USA. August 29 - Sept 2, 2009 Check out: http://www.iciem2009.org http://books.mcgraw-hill.com/medical/ommbid/blog/?p=1288