Key Recent Research Discoveries

2011

  • Senderek J, et al. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. American Journal of Human Genetics 11;88(2):162-72.
  • Payne BAI, et al. Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations. Nat Genet. 26;43(8):806-10
  • Mells GF, et al. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. Nat Genet. 13;43(4):329-32
  • Morgan HP, et al. Structural basis for engagement by complement factor H of C3b on a self surface. Nat Struct Mol Biol, 18(4):463-70

2010

  • Bushby K, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis and pharmacological and psychosocial management. Lancet Neurol. 9(1):77-93
  • Bushby K, et al Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation and multidisciplinary care. Lancet Neurol. 9(2):177-89
  • Chinnery PF, et al. Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study. Lancet Neurol. 9(5):498-503
  • Samuels DC, et al. Reassessing evidence for a postnatal mitochondrial genetic bottleneck. Nat Genet. 42(6):471-2
  • Kolli S, et al. Successful Clinical Implementation of Corneal Epithelial Stem Cell Therapy for Treatment of Unilateral Limbal Stem Cell Deficiency. Stem Cells (in press)
  • Auer-Grumbach M, et al.  Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet. 42:160-164.
  • Pearce SH, et al.  Diagnosis and management of vitamin D deficiency. BMJ. 340: b5664

2009

  • Zhang X et al. A role for NANOG in G1 to S transition in human embryonic stem cells through direct binding of CDK6 and CDC25A. J Cell Biol. 184: 67-82
  • Weraarpachai W et al. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet. 41: 833-837
  • Daly AK et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet. 41: 816-819

2008

  • Burn J, et al. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.  N Engl J Med. 359: 2567-2578.
  • Ledran M, et al. Efficient hematopoietic differentiation of human embryonic stem cells on stromal cells derived from hematopoietic niches. Cell Stem Cell 3: 85-98
  • Ehrmann I, et al. Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse. Hum Mol Genet. 17:2803-2818
  • Miyake N, et al. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science 321: 839-843
  • Fisher SA, et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.  Nat Genet. 40:710-712.