Publication Archives 2005

research notes within a lab

 

Human Genetics Unit: Staff Papers 2005

 

Keyword Search

 

 

 

 





  1. Achilli, F.; Boyle, S.; Kieran, D.; Chia, R.; Hafezparast, M.; Martin, J.E.; Schiavo, G.; Greensmith, L.; Bickmore, W. and Fisher, E.M. The SOD1 transgene in the G93A mouse model of amyotrophic lateral sclerosis lies on distal mouse chromosome 12. Amyotroph Lateral Scler 6:111-114, 2005

  2. Aijaz, S.; Allen, J.; Tregidgo, R.; van Heyningen, V.; Hanson, I. and Clark, B.J. Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and adherin 18. Genomics 86(1): 86-99, 2005

  3. Akrami, S.M.; Dunlop, M.G.; Farrington, S.M.; Frayling, I.M.; Macdonald, F.; Harvey,J.F. and Armour, J.A. Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH. Fam Cancer 4:145-149, 2005

  4. Allemand, E.; Guil, S.; Myers, M.; Moscat, J.; Caceres, J.F. and Krainer, A.R. Regulation of heterogenous nuclear ribonucleoprotein A1 transport by phosphorylation in cells stressed by osmotic shock. PNAS 102(10):3605-3610, 2005

  5. Baida, A. Farrington, S.M. Galofre, P. Marcos, R. and Velazquez, A. Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms. Cancer Epidemiol Biomarkers Prev 14:638-642, 2005

  6. Baldock, R. and Burger, A. Anatomical ontologies: names and places in biology. Genome Biology 6:108, 2005

  7. Bartolomei, M.S. and Bickmore, W.A. Editorial. Human Molecular Genetics 14 (Review Issue 1):R1-R2, 2005

  8. Blaustein,M.; Pelisch, F.; Tanos, T.; Munoz, M.J.; Wengier, D.; Quadrana, L.; Sanford, J.R.; Muschietti, J.P.; Kornblihtt, A.R.; Caceres, J.F.; Coso, O.A. and Srebrow, A. Concereted regulation of nuclear and cytoplasmic activities of SR proteins by AKT. Nature Structural & Molecular Biology 12(12):1037-1044, 2005

  9. Campbell, S.J.; Henderson,C.J.; Anthony, D.C.; Davidson, D.; Clark, A.J. and Wolf, C.R. The Murine Cyp1a1 Gene Is Expressed in a Restricted Spatial and Temporal Pattern during Embryonic Development. Journal of Biological Chemistry 280(7):5828-5835, 2005

  10. Cazalla, D.; Newton, K. and Caceres, J.F. A Novel SR-Related Protein Is Required for the Second Step of Pre-mRNA Splicing. Molecular and Cellular Biology 25(8), 2005

  11. Cazalla, D.; Sandford, J.R. and Caceres, J.F. A rapid and efficient protocol to purify biologically active recombinant proteins from mammalian cells. Protein Purif 42:54-58, 2005

  12. Clutterbuck,D.R.; Leroy,A.; O'Connell,M.A.; Semple,C.A.M. A bioinformatic screen for novel A-I RNA editing sites reveals recoding editing in BC10.Bioinformatics 21:2590-5, 2005

  13. Collier, B.; Gorgoni, B.; Loveridge, C.; Cooke, H.J. and Gray, N.K. The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells. EMBO Journal 24(14):2656-66, 2005

  14. Costa, Y.; Speed, R.; Ollinger, R.; Alsheimer, M.; Semple, C.A.; Gautier, P.; Maratou, K.; Novak, I.; Hoog, C.; Benavente, R. and Cooke, H.J. Two novel proteins recruited by synaptonemal complex protein 1 (SYCP1) are at the centre of meiosis. Journal of Cell Science 118:2755-2762, 2005

  15. Chambeyron, S.; Da Silva, N. R.; Lawson, K.A. and Bickmore, W.A. Nuclear re-organisation of the Hoxb complex during mouse embryonic development. Development 132:2215-2223, 2005

  16. Dadzie, A.S. and Burger, A. Providing visualisation support for the analysis of anatomy ontology data. BMC Bioinformatics 6:74, 2005

  17. Deary, I.J.; Hamilton, G.; Hayward, C.; Whalley, L.J.; Powell, J.; Starr, J.M. and Lovestone, S. Nicastrin gene polymorphisms, cognitive ability level and cognitive ageing. Neuroscience Letters 373:110-114, 2005

  18. Deary, I.J.; Harris, S.E.; Fox, H.C.; Hayward, C.; Wright, A.F.; Starr, J.M. and Whalley, L.J. KLOTHO genotype and cognitive ability in childhood and old age in the same individuals. Neuroscience Letters 378:22-27, 2005

  19. Desterro, J.M.P.; Keegan, L.P.; Jaffray, E.; Hay, R.T.; O’Connell, M.A.; Carmo-Fonseca, M. SUMO-1 Modification Alters ADAR1 Editing Activity. Molecular Biology of the Cell 16:5115-5126, 2005

  20. Din, F.V.N.; Stark, L.A. and Dunlop, M.G. Asprin-induced nuclear translocation of NFkB and apoptosis in colorectal cancer is independent of p53 status and DNA mismatch repair proficiency. British Journal of Cancer 92:1137-1143, 2005

  21. Douglas,J; Tatton-Brow,K.; Coleman, K.; Guerrero, S.; Berg, J.; Cole, T.R.P.; FitzPatrick, D.; Gillerot, Y.; Hughes, H.E.; Pilz, D.; Raymond, F.L.; Temple, I.K.; Irrthum, A.; Schouten, J.P. and Rahman, N. partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. Journal of Medical Genetics 42(9):e56, 2005

  22. Ewart-Toland, A.; Dai, Q.; Gao, Y.T.; Nagase, H.; Dunlop, M.G.; Farrington, S.M.; Barnetson, R.A.; Anton-Culver, H.; Peel, D.; Ziogas, A.; Lin, D.; Miao, X.; Sun, T.; Ostrander, E.A.; Stanford, J.L.; Langlois, M.; Chan, J.M.; Yuan, J.; Harris, C.C.; Bowman, E.D.; Clayman, G.L.; Lippman, S.M.; Lee, J.J.; Zheng, W. and Balmain, A. Aurora-A/STK15 T+91A is a general low penetrance cancer susceptibility gene: a meta-analysis of multiple cancer types. Carcinogenesis 26:1368-73, 2005

  23. FANTOM Consortium (Clutterbuck, D.R. and Semple, C.A.M.) The Transcriptional Landscape of the Mammalian Genome. Science 309:1559-1563, 2005

  24. Farrington, S.M.; Tenesa, A.; Barnetson, R.A.; Wiltshire, A.; Prendergast, J.; Porteous, M.E.M.; Campbell, H. and Dunlop, M.G. Germline susceptibility to colorectal cancer due to base excision repair gene defects. Am J Hum Genet 77: 112-9, 2005

  25. Feng, G.; Burton, N.; Hill, B.; Davidson, D.; Kerwin, J. Scott, M.; Lindsay, S. and Baldock, R. JatlasView: a java atlas-viewer for browsing biomendical images and atlases. BMC Bioinformatics 6:47, 2005

  26. Fitzpatrick, D.R. Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects. Trends in Genetics 21(5): 249-53, 2005

  27. FitzPatrick, D.R. and van Heyningen, V. Developmental eye disorders. Current Opinion in Genetics & Development 15:348-353, 2005

  28. FitzPatrick, D.R. and van Heyningen, V. Genetics of disease - From human malformations to biological themes. Current Opinion in Genetics & Development 15:223-225, 2005

  29. Garcia-Minaur, S.; Ramsay, J.; Grace, E.; Minns. R.A.; Myles, L.M. and FitzPatrick D.R. Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3. Am J Med Genet A. 132(4):402-10, 2005

  30. Gazave, E.; Gautier, P. Gilchrist, S.; and Bickmore, W.A. Does radical nuclear organisation influence DNA damage. Chromosome Research 13:377-388, 2005

  31. Gilbert, N. Gilchrist, S. and Bickmore, W.A. Chromatin Organization in the Mammalian Nucleus International Review of Cytology 242:283-336, 2005

  32. Gilbert, N. and Ramsahoye, B. The relationship between chromatin structure and transcriptional activity in mammalian genomes. Briefings in Funtional Genomics and Proteomics 4(2):1-14, 2005

  33. Gorgoni, B.; Andrews, S.; Schaller, A.; Schumperli, D.; Gray, N.K. and Muller, B. The stem-loop binding protein stimulates histone translation at an early step in the initiation pathway. RNA 11:1030-1042, 2005

  34. Harris, S.E.; Wright, A.F.; Hayward, C.; Starr, J.M.; Whalley, L.J. and Deary, I.J. The functional COMT polymorphism, Val158Met, is associated with logical memory and the personality trait intellect/imagination in a cohort of healthy 79 year olds. Neuroscience 385:1-6, 2005

  35. Hart, A.W.; McKie, L.; Morgan, J.E.; Gautier, P.; West, K.; Jackson, I.J. and Cross, S.H. Genotype-Phenotype Correlation of Mouse Pde6b Mutations. Investigative Ophthalmology & Visual Sciences 46(9):3443-3450, 2005

  36. Hartmann-Petersen, R. and Gordon, C. Quatiifying protein-protein interactions in the ubiquitin pathway by surface plasmon resonance. Methods in Enzymology 399 PartB:164-177, 2005

  37. Ho, G.T.; Nimmo, E.R.; Tenesa, A.; Fennell, J.; Drummond, H.; Mowat, C.; Arnott, I.D.and Satsangi, J. Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis.
    Gastroenterology 128:288-296, 2005

  38. Hoopengardner, B.; OConnell, M.A.; Reenan, R.A. and Keegan, L.P. Adenosine to inosine RNA editing in animal cells. In: Topics in Current Genetics 12:341-364, 2005

  39. Horsford, D.J.; Nguyen, M.T.; Sellar, G.C.; Kothary, R.; Arnheiter, H. and McInnes ,R. Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity. Development 132:177-187, 2005

  40. Hudson, N.P.H. and Dunlop, M.G. Horses for courses. Comparative gastroenterology: Common ground and collaborative potential. Br Med J 331:1248-51, 2005

  41. Huang, X.; Hetfeld, B.K.; Seifert, U.; Kahne, T.; Kloetzel, P.M.; Naumann, M.; Bech-Otschir, D. and Dubiel, W. Consequences of COP9 signalosome and 26S proteasome interaction. FEBS J 272:3909-3917, 2005

  42. The Eumorphia Consortium (Jackson, I.; Cross, S.; Davidson, D.; Hart, A. and Murray, A.) EMPReSS: standardized phenotype screens for functional annotation of the mouse genome. Nature Genetics 37(11):1115, 2005

  43. Jadeja, S.; Smyth, I.; Pitera, J.E.; Taylor, M.S.; van Haelst, M.; Bentley, E.; McGregor, L.; Hopkins, J.; Chalepakis, G.; Philip, N.; Aytes, A.P.; Watt, F.M.; Darling, S.M.; Jackson, I.; Woolf, A.S. and Scambler, P.J. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nature Genetics 37(5):520-525, 2005

  44. Kachiwala, S.J., Harris, S.E., Wright, A.F., Hayward, C., Starr, J.M., Whalley, L.F., Deary, I.J. Genetic influences on oxidative stress and their association with normal cognitive ageing. Neuroscience Letters 386:116-120, 2005

  45. Kanato, K.; Hosen, N.; Yanagihara, M.; Nakagata, N.; Shirakata,T.; Nakazawa, T.; Nishida, S.; Tsuboi, A.; Kawakami, M.; Masuda, T.; Oka, Y.; Oji, Y.; IJpenberg, A.; Hastie, N.D. and Sugiyama, H. The Wilms' tumor gene WT1 is a common marker of progenitor cells in fetal liver. BBRC 326:836-843, 2005

  46. Karasavvas, K.A.; Baldock, R. and Burger, A. A criticality-based framework for task composition in multi-agent bioinformatics integration systems. BioInformatics 21(14):3155-3163, 2005

  47. Keegan, L.P.; Brindle, J.; Gallo, A.; Leroy, A.; Reenan, R.A.; and O'Connell, M.A. Tuning of RNA editing by ADAR is required in Drosophila. EMBO Journal. 24: 2183-2193, 2005

  48. Khanna, H., Hurd, T.W., Lillo, C., Parapurqm, S.K., Shu, X., He, S., Akimoto, M., Wright, A.F., Margolis, B., Williams, D.S., Swaroop, A. RPGR-ORF15, Whch is mutated in retinitis pigmentosa, associates with SMC1,SMC3, and microtubule transport proteins. Journal of Biological Chemistry 280:33580-33587, 2005

  49. King-Underwood, L.; Little, S.; Baker, M.; Clutterbuck, R.; Delassus, S.; Enver, T.; Lebozer, C.; Min, T.; Moore, A.; Schedl, A. and Pritchard-Jones, K. Wt1 is not essential for hematopoiesis in the mouse. Leuk Res 29:803-812, 2005

  50. Kleinjan, D.A. and van Heyningen, V. Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease. Am J Hum Genet 76:8-32, 2005

  51. Kotzamanis,G.; Cheung,W.; Abdulrazzak,H.; Perez-Luz,S.; Howe,S.; Cooke, H.; Huxley,C. Construction of human artificial chromosome vectors by recombineering. Gene 351:29-38, 2005

  52. Lettice, L. and Hill, R.E. Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities. Current Opinion in Genetics & Development 15:294-300, 2005

  1. Lettice, L.A.; Kapoor, T. and Hill, R.E. Digital dialogues in Dundee: 8th International Conference on Limb Development. Dev Dyn 233:252-255, 2005

  2. Liakos, K.; Burger, A. and Baldock, R.Distributed Processing of Large BioMedical 3D Images. Lecture Notes in Computer Science 3402:142-155, 2005

  3. Lindsay, S.; Sarma, S.; Martinez-de-la torre, M.; Kerwin, J.; Scott, M.; Ferran, J.L.; Baldock, R. and Puelles, L. Anatomical and gene expression mapping of the ventral pallium in a three-dimensional model of developing human brain. Neuroscience 136:625-632, 2005

  4. MacPherson, H.; Keir, P.; Webb, S.; Samuel, K.; Boyle, S.; Bickmore, W.; Forrester, L. and Dorin, J. Bone marrow-derived SP cells can contribute to the respiratory tract of mice in vivo. Journal of Cell Science 118:2441-2450, 2005

  5. Martynoga, B.; Morrison, H.; Price, D.J. and Mason, J.O. Foxg1 is required for specification of ventral telecephalon and region-specific regulation of dorsal telencephalic precursor proliferation and apoptosis. Developmental Biology. 283: 113-117, 2005

  6. McCracken, S.; Longman, D.; Marcon,E.; Moens, P.; Downey, M.; Nickerson, J.A.; Jessberger, R.; Wilde, A.; Caceres, J.F.; Emili, A. and Blencowe, B.J. Proteomic Analysis of SRm160-containing Complexes Reveals a Conserved association with Cohesin. Journal of Biological Chemistry 280(51): 42227-36,2005

  7. McLaren, A. and Lawson, K.A. How is the mouse germ-cell lineage established? Differentiation 73:435-437, 2005

  8. McMichael,J.W.; Maxwell,A.I.; Hayashi,K.; Taylor,K.; Wallace,W.A.; Govan,J.R.; Dorin,J.R.; Sallenave,J.M. Antimicrobial activity of murine lung cells against Staphylococcus aureus is increased in vitro and in vivo after elafin gene transfer. Infection and Immunity 73(6): 3609-3617, 2005

  9. Meehan, R.R.; Dunican, D.S.; Ruzov, A. and Pennings, S. Epigenetic silencing in embryogenesis. Experimental Cell Research 309:241-249, 2005

  10. Migeon, B.R.; Axelman, J. and Jeppesen, P. Differential X Reactivation in Human Placental Cells: Implications for Reversal of X Inactivation Am J Hum Genet 77:355-364, 2005

  11. Miller, J. and Gordon, C. The regulation of proteasome degradation by multi-ubiquitin chain binding proteins. FEBS Letters 579:3224-3240, 2005

  12. Mitchell, R.J.; Campbell, H.; Farrington, S.M.; Brewster, D.H.; Porteous, M.E.M. and Dunlop, M.G. Prevalence of family history of colorectal cancer in the general population. Br J Surg 92:1161-1164, 2005

  13. Nik, S.A.; Hohenstein, P.; Jadidizadeh, A.; van Dam, K.; Bastidas, A.; Berry, R.L.; Patek, C.E.; van der Schueren, B.; Cassiman, J-J. and Tejpar, S. Upregulation of Wilms' tumor 1 (WT1) in desmoid tumors. Int J Cancer 114:202-208, 2005

  14. Patek, C.E., Saunders, P.T., Miles, C.G., Berry, R.L., Hastie, N.D., Sharpe, R.M., Hooper, M.L. Gonadal effects of a mouse denys-drash syndrome mutation. Transgenic Research 14:691-702, 2005

  15. Ponting, C.; Jackson, A.P.; Evolution of primary microcephaly genes and the enlargement of primate brains. Current Opinion in Genetics & Development 15:241-248, 2005

  16. Price, J.; Campbell, C.; Sells, J.; Weller, D.; Campbell, H.; Kenicer, M. and Dunlop M. Impact of UK Colorectal Cancer Screening Pilot on hospital diagnostic services. J Public Health 27(3):246-53, 2005

  17. Ragge, N.K.; Lorenz, B.; Schneider, A.; Bushby, K.; de Sanctis, L.; de Sanctis, U.; Salt, A.; Collin, R.O.; Vivian, A.J.; Free, S.L.; Thompson, P.; Williamson, K.A.; Sisodiya, S.M.; van Heyningen, V. and FitzPatrick, D.R. SOX2 Anophthalmia Syndrome. American Journal of Medical Genetics 135A:1-7, 2005

  18. Ragge,N.K.; Brown,A.G.; Poloschek,C.M.; Lorenz,B.; Henderson,A.R.; Clarke,M.P.; Russell-Eggitt,I.; Fielder,A.; Gerrelli,D.; Martinez-Barberal,J.P.; Ruddle,P.; Hurst,J; Collin,J.R.O.; Salt,A.; Cooper,S.T.; Thompson,P.J.; Sisodiya,S.M.; Williamson,K.A.; Fitzpatrick,D.R.; van Heyningen,V. and Hanson,I.M. Heterozygous Mutations of OTX2 Cause Ocular Malformations. American Journal of Human Genetics 76(6):1008-1022, 2005

  19. Reynolds N.; Collier, B.; Maratou, K.; Bingham, V.; Speed, R.M.; Taggart, M.; Semple, C.A.; Gray, N.K. and Cooke, H.J. Dazl binds in vivo to specific transcripts and can regulate the pre-meiotic translation of Mvh in germ cells. Human Molecular Genetics 14(24):3899-3909, 2005

  20. Reynolds, N. and Cooke, H.J. Symposium: Genetic aspects of male (in)fertility. Role of the DAZ genes in male fertility. Reproductive BioMedicine Online 10(1):72-80, 2005

  21. Sanford, J.R.; Ellis, J.; Caceres, J.F.; Multiple roles of arginine/serine-rich splicing factors in RNA processing. Biochemical Society Transactions 33:443-446, 2005

  22. Sanford, J.R.; Ellis, J.D.; Cazalla, D. and Caceres, J.F. Reversible phosphorylation differentially affects nuclear and cytoplasmic functions of splicing factor 2/alternative splicing factor. PNAS 102(42):15042-15047, 2005

  23. Sarma, S.; Kerwin, J.; Puelles, L.; Scott, M.; Strachan, T.; Feng, G.; Sharpe, J.; Davidson, D.; Baldock, R. and Lindsay, S. 3D modelling, gene expression mapping and post-mapping image analysis in the developing human brain. Brain Research Bulletin 66:449-453, 2005

  24. Satsangi, J.; Campbell, H.; Dunlop, M.G. and Porteous, M. Molecular genetics in gastroenterology: from research success to clinical application? Nat Clin Pract Gastroenterol Hepatol 2:118-9, 2005

  25. Scadden,A.D.J.; O'Connell,M.A. Cleavage of dsRNAs hyper-edited by ADARs occurs at preferred editing sites. Nucleic Acids Research 33(18): 5954-5964, 2005

  26. Semple,C.A.M.; Maxwell, A.; Gautier, P.; Kilanowski, F.M.; Eastwood, H.; Barran, P.E. and Dorin, J.R. The complexity of selection at the major primate b-defensin locus. BMC Evolutionary Biology 5:32, 2005

  27. Sharkey, F.H.; Dooley, J.S. and Haylock, R.W.Quantitative effects of carbohydrates and aromatic amino acids on Clostridium botulinum toxin gene expression using a rapid competitive RT/PCR assay. J Mol Microbiol Biotechnol 9:35-43, 2005

  28. Sharkey, F.H.; Maher, E. and FitzPatrick D.R. Chromosome analysis: what and when to request. Arch Dis Child 90(12):1264-9, 2005

  29. Shu, X.; Fry, A.M.; Tulloch, B. Manson, F.D.C.; Crabb, J.W.; Khanna, H.; Faragher, A.J.; Lennon, A.; He, S.; Trojan, P.; Giessl, A.; Wolfrum, U.; Vervoort, R.; Swaroop, A. and Wright, A.F. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Human Molecular Genetics 14(9):1183-1197, 2005

  30. Sproul, D.; Gilbert, N. and Bickmore, W.A. The role of chromatin structure in regulating the expression of clustered genes. Nature Reviews: Genetics 6:775-781, 2005

  31. Stark, L.A. and Dunlop, M.G. Nucleolar Sequestration of RelA (p65) Regulates NF-kB-Driven Transcription and Apoptosis. Molecular and Cellular Biology 25(14):5985-6004, 2005

  32. Subrayan, V.; Morris, B.; Armbrecht, A.M.; Wright, A.F. and Dhillon, B. Long Anterior Lens Zonules in Late-Onset Retinal Degeneration (L-ORD). Am J Ophthalmol 140:1127-9, 2005

  33. Swerdlow, A.J.; Schoemaker, M.J.; Higgins, C.D.; Wright, A.F.and Jacobs P.A. Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain. Hum Genet. 118(2):255-60, 2005

  34. Swerdlow, A.J.; Higgins, C.D.; Schoemaker, M.J.; Wright, A.F. and Jacobs, P.A. on behalf of the United Kingdom Clinical Cytogenetics Group. Mortality in Patients with Klinefelter Syndrome in Britain: a cohort study. J Clin Endocrinol Metab. 90(12):6516-22, 2005

  35. Swerdlow, A.J.; Schoemaker, M.J.; Higgins, C.D.; Wright, A.F.; Jacobs, P.A. Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort Study. Journal of the National Cancer Institute 97(16):1204-1210, 2005

  36. Taddei, A. ; Roche, D.; Bickmore, W.A. and Almouzni, G. The effects of histone deacetylase inhibitors on heterochromatin: implications for anticancer therapy. EMBO Reports 6(6):520-524, 2005

  37. Tenesa, A.; Farrington, S.M. and Dunlop MG. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 97:320-1, 2005

  38. Tenesa, A.; Visscher, P.M.; Carothers, A.D. and Knott, S.A. Mapping Quantitative Trait Loci Using Linkage Disequilibrium: Marker- versus trait-based Methods. Behavior Genetics 35(2):219-228, 2005

  39. Trempe, J.-F.; Brown, N.R.; Lowe, E.D.; Gordon, C.; Campbell, I.D.; Noble, M.E.M. and Endicott, J.A. Mechanism of Lys48-linked polyubiquitin chain recognition by the Mud1 UBA domain. EMBO Journal 24(18):3178-3189, 2005

  40. Trimborn, M.; Richter, R.; Sternberg, N.; Gavvovidis, I.; Schindler, D.; Jackson, A.P.; Prott, E.C.; Sperling, K.; Gillessen-Kaesbach, G and Neitzel, H. The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat 26(5):496, 2005

  41. Tse, H.K.W.; Leung, M.B.W.; Woolk, A.S.; Menke, A.L.; Hastie, N.D.; Gosling, J.A.; Pang, C-P and Shum, A.S.W. Implication of Wt1 in the pathogenesis of Nephrogenic Failure in a Mouse Model of Retinoic Acid-Induced Caudal Regression Syndrome. American Journal of Pathology 166(5), 2005

  42. van Agtmael, T., Schlotzer-Schrehardt, U., McKie, L., Brownstein, D., Lee, A., Cross, S.H., Sado, Y., Mullins, J.J., Poshl, E., Jackson, I.J. Dominant mutations of Co14a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Human Molecular Genetics 14:3161-3168, 2005

  43. Vieira, A.R.; Avila, J.R.; Daack-Hirsch, S.; Dragan, E.; Felix, T.M.; Rahimov, F.; Harrington, J.; Schultz, R.R.; Watanabe, Y.; Johnson, M.; Fang, J.; O'Brien, S.E.; Orioli, M.; Castilla, E.E.; Fitzpatrick, D.R.; Jiang, R.; Marazita, M.L. and Murray JC. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. PLoS Genet 1(6):e64, 2005

  44. Vitart, V.; Carothers, A.D.; Hayward, C.; Teague, P.; Hastie, N.D.; Campbell, H. and Wright, A.F. Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study Design. American Journal of Human Genetics 76:763-772, 2005

  45. Walls J.R.; Sled, J.G. and Sharpe, J. Correction of artefacts in optical projection tomography Physics in Medicine and Biology 50:4645-4665, 2005

  46. Welchman, R.L.; Gordon, C. and Mayer, R.J. Ubiquitin and ubiquiten-like proteins as multifunctional signals. Nature Reviews: Molecular Cell Biology 6:599-609, 2005

  47. White, K.E.; Cabral, J.M.; Davis, S.I.; Fishburn, T.; Evans, W.E.; Ichikawa, S.; Fields, J.; Yu, X.; Shaw, N. J.; McLellan, N.J.; McKeown, C.; FitzPatrick, D.; Yu, K.; Ornitz, D.M. and Econs, M.J. Mutations the Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation. American Journal of Human Genetics 76:361-367, 2005

  48. Wiblin, A.E.; Cui, W.; Clark, A.J. and Bickmore, W.A. Distinctive nuclear organisation of centromeres and regions involved in pluripotency in human embryonic stem cells. Journal of Cell Science 118:3861-3868, 2005

  49. Willatt, L.; Cox, J.; Barber, J.; Cabanas, E.D.; Collins, A.; Donnai, D.; FitzPatrick, D.R. Maher, E.; Martin, H.; Parnau, J.; Pindar, L.; Ramsay, J.; Shaw-Smith, C.; Sistermans, E.A.; Tettenborn, M.; Trump, D.; de Vries, B.B.; Walker, K. and Raymond, F.L. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 77(1):154-60, 2005

  50. Willnow, T.E.; Antignac, C.; Brandli, A.W.; Christensen, E.I.; Cox, R.D.; Davidson, D.; Davies, J.A.; Devuyst, O.; Eichele, G.; Hastie, N.D.; Verroust, P.J.; Schedl, A. and Meij, I.C. An integrated approach towards understanding the genetics of kidney development and disease. Organogenesis 2(2):42-47, 2005

  51. Wilkie, G.S.; Gautier, P.; Lawson, D. and Gray, N.K. Embryonic Poly(A)-Binding Protein Stimulates Translation in Germ Cells. Molecular and Cellular Biology 25(5):2060-2071, 2005

  52. Wilm, B.; Ipenberg, A.; Hastie, N.D.; Burch, J.B.E. and Bader, D.M. The serosal mesothelium is a major source of smooth muscle cells of the gut vasculature. Development 132:5317-5328, 2005

  53. Wright, A.F. Neurogenetics II: complex disorders. J Neurol Neurosurg Psychiatry 76:623-31, 2005