Research Biographies

DR IRENE ALIGIANIS

Medical and Developmental Genetics

Contact Details

Research Areas

Identifying new genes that cause human disease often provides insights into basic biology and disease pathogenesis. My research aims to identify novel genes that are important in eye and brain development and to study their function by using cellular biology and model organisms.

Micro and Martsolf Syndromes

Publications

• Bem, D.; Yoshimura, S.; Nunes-Bastos, R.; Bond, F.F.; Kurian, M.A.; Rahman, F.; Handley, M.T.; Hadzhiev, Y.; Masood, I.; Straatman-Iwanowska, A.A.; Cullinane, A.R.; McNeill, A.; Pasha, S.S.; Kirby, G.A.; Foster, K.; Ahmed, Z.; Morton, J.E.; Williams, D.; Graham, J.M.; Dobyns, W.B.; Burglen, L.; Ainsworth, J.R.; Gissen, P.; Muller, F.; Maher, E.R.; Barr, F.A. and Aligianis, I.A. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet 88(4):499-507, 2011
  PubMed Abstract
• Aligianis, I.A.; Morgan, N.V.; Mione, M.; Johnson, C.A.; Rosser, E.; Hennekam, R.C.; Adams, G.; Trembath, R.C.; Pilz, D.T.; Stoodley, N.; Moore, A.T.; Wilson, S. and Maher, E.R. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am.J Hum.Genet. 78(4):702-707, 2006 PubMed Abstract
• Aligianis, I.A.; Johnson, C.A.; Gissen, P.; Chen, D.; Hampshire, D.; Hoffmann, K.; Maina, E.N.; Morgan, N.V.; Tee, L.; Morton, J.; Ainsworth, J.R.; Horn, D.; Rosser, E.; Cole, T.R.; Stolte-Dijkstra, I.; Fieggen, K.; Clayton-Smith, J.; Megarbane, A.; Shield, J.P.; Newbury-Ecob, R.; Dobyns, W.B.; Graham, J.M., Jr.; Kjaer, K.W.; Warburg, M.; Bond, J.; Trembath, R.C.; Harris, L.W.; Takai, Y.; Mundlos, S.; Tannahill, D.; Woods, C.G. and Maher, E.R. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat.Genet. 37(3):221-223, 2005
  PubMed Abstract
• Michaelides, M.;* Aligianis, I.A.; Ainsworth, J.R.; Good, P.; Mollon, J.D.; Maher, E.R.; Moore, A.T. and Hunt, D.M. Progressive cone dystrophy associated with mutation in CNGB3. Invest Ophthalmol.Vis.Sci. 45(6):1975-1982, 2004 *Joint first authors PubMed Abstract
• Michaelides, M.; Aligianis, I.A.; Holder, G.E.; Simunovic, M.; Mollon, J.D.; Maher, E.R.; Hunt, D.M. and Moore, A.T. Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). Br.J Ophthalmol. 87(11):1317-1320, 2003 PubMed Abstract
• Aligians, I. and Maher, E. RAB3GAP1 and RAB3GAP2 and Warburg Micro and Martsolf syndromes. In Inborn Errors of Development. 2nd ed. Chapter 146:1301-1303,
• Aligianis, I.A.; Forshew, T.; Johnson, S.; Michaelides, M.; Johnson, C.A.; Trembath, R.C.; Hunt, D.M.; Moore, A.T. and Maher, E.R. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet. 39(9):656-660, 2002 PubMed Abstract