1. I Dokal. Dyskeratosis congenita in all its forms. Br J Haematol 110:768-779, 2000.

2. NS Heiss, SW Knight, TJ Vulliamy, SM Klauck, S Wiemann, PJ Mason, A Poustka, I Dokal. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 19:32-38, 1998.

3. S Knight, T Vulliamy, A Copplestone, E Gluckman, P Mason, I Dokal. Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haematol 103: 990-996, 1998.

4. I Dokal. Dyskeratosis congenita: recent advances and future directions. J Pediatr Hematol Oncol 21:344-350, 1999.

B Sölder, M Weiss, A Jager, BH Belohradsky. Dyskeratosis congenita: multisystemic disorder with special consideration of immunologic aspects. A review of the literature. Clin Pediatr 37:521-530, 1998.

I Dokal, J Bungey, P Williamson, D Oscier, J Hows, L Luzzatto. Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood 80:3090-3096, 1992.

SW Knight, NS Heiss, TJ Vulliamy, CM Aalfs, C McMahon, P Richmond, A Jones, RC Hennekam, A Poustka, PJ Mason, I Dokal. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 107:335-339, 1999.

R Yaghmai, A Kimyai-Asadi, K Rostamiani, NS Heiss, A Poustka, W Eyaid, J Bo-durtha, HC Nousari, A Hamosh, A Metzenberg. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J Pediatr 136:390-393, 2000. CM Aalfs, H van den Berg, PG Barth, RC Hennekam. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Eur J Pediatr 154:304-308, 1995. L Nespoli, C Lascari, R Maccario, L Nosetti, U Broggi, F Locatelli, S Binda, F Gau-dio, R Casalone, F Bosi. The Hoyeraal-Hreidarsson syndrome: the presentation of the seventh case. Eur J Pediatr 156:818-820, 1997.

F Mahmood, MD King, OP Smyth, MA Farrell. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. Neuropediatrics 29:302-306, 1998. S Akaboshi, M Yoshimura, T Hara, H Kageyama, K Nishikwa, T Kawakami, A Ieshima, K Takeshita. A case of Hoyeraal-Hreidarsson syndrome: delayed myelina-tion and hypoplasia of corpus callosum are other important signs. Neuropediatrics 31:141-144, 2000.

K Devriendt, G Matthijs, E Legius, E Schollen, D Blockmans, C van Geet, H De-greef, JJ Cassiman, JP Fryns. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet 60:581-587, 1997. TJ Vulliamy, SW Knight, I Dokal, PJ Mason. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 90:2213-2216, 1997.

I Dokal, L Luzzatto. Dyskeratosis congenita is a chromosomal instability disorder. Leuk Lymphoma 15:1-7, 1994.

H Kehrer, W Krone. Chromosome abnormalities in cell cultures derived from the leukoplakia of a female patient with dyskeratosis congenita. Am J Med Genet 42:217-218, 1992.

H Kehrer, W Krone, D Schindler, R Kaufmann, H Schrezenmeier. Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. Clin Genet 41:129-134, 1992.

SW Knight, T Vulliamy, GL Forni, D Oscier, PJ Mason, I Dokal. Fine mapping of the dyskeratosis congenita locus in Xq28. J Med Genet 33:993-995, 1996. SW Knight, TJ Vulliamy, NS Heiss, G Matthijs, K Devriendt, JM Connor, M D'Urso, A Poustka, PJ Mason, I Dokal. 1.4 Mb candidate gene region for X-linked dysker-atosis congenita defined by combined haplotype and X chromosome inactivation analysis. J Med Genet 35:993-996, 1998.

20. SW Knight, NS Heiss, TJ Vulliamy, S Greschner, G Stavrides, GS Pai, G Lestringant, N Varma, PJ Mason, I Dokal, A Poustka. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet 65: 50-58, 1999.

21. NS Heiss, D Bächner, R Salowsky, A Kolb, P Kioschis, A Poustka. Gene structure and expression of the mouse dyskeratosis congenita gene, dkcl. Genomics 67:153163, 2000.

22. E Giordano, I Peluso, S Senger, M Furia. Minifly, a Drosophila gene required for ri-bosome biogenesis. J Cell Biol 144:1123-1133, 1999.

23. S Robertson, M Kennedy, G Keller. Hematopoietic commitment during embryogenesis. Ann NY Acad Sci 872:9-15, 1999.

24. H Lejeune, R Habert, JM Saez. Origin, proliferation and differentiation of Leydig cells. J Mol Endocrinol 20:1-25, 1998.

25. CJ Cummings, HT Orr, HY Zoghbi. Progress in pathogenesis studies of spinocerebellar ataxia type 1. Philos Trans R Soc Lond B Biol Sci 354:1079-1081, 1999.

26. H Tashiro, SO Suzuki, T Hitotsumatsu, T Iwaki. An autopsy case of spinocerebellar ataxia type 6 with mental symptoms of schizophrenia and dementia. Clin Neuropathol 18:198-204, 1999.

27. A Larnaout, S Belal, C Ben Hamida, M Ben Hamida, F Hentati. Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: a clinicopatho-logical observation in three siblings. J Neurol 245:231-235, 1998.

28. S Hassock, D Vetrie, F Giannelli. Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. Genomics 55:21-27, 1999.

29. TJ Vulliamy, SW Knight, NS Heiss, OP Smith, A Poustka, I Dokal, PJ Mason. Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. Blood 94:1254-1260, 1999.

30. SW Knight, TJ Vulliamy, B Morgan, K Devriendt, PJ Mason, I Dokal. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum Genet 108:299-303, 2001.

31. NS Heiss, A Megarbane, SM Klauck, FR Kreuz, E Makhoul, F Majewski, A Poustka. One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). Genet Couns 12:129-136, 2001.

32. M Jouet, A Rosenthal, G Armstrong, J MacFarlane, R Stevenson, J Paterson, A Met-zenberg, V Ionasescu, K Temple, S Kenwrick. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7:402-407, 1994.

33. JC Ruiz, H Cuppens, E Legius, JP Fryns, T Glover, P Marynen, JJ Cassiman. Mutations in L1-CAM in two families with X-linked complicated spastic paraplegia, MASA syndrome, and HSAS. J Med Genet 32:549-552, 1995.

34. W Reardon, A Smith, JW Honour, P Hindmarsh, D Das, G Rumsby, I Nelson, S Malcolm, L Ades, D Sillence, D Kumar, C DeLozier-Blanchet, S McKee, T Kelly, WL McKeehan, M Baraitser, RM Winter. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet 37:26-32, 2000.

35. R Morell, RA Spritz, L Ho, J Pierpont, W Guo, TB Friedman, JH Asher Jr. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet 6:659-664, 1997.

UT Meier, G Blobel. NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J Cell Biol 127:1505-1514, 1994. W Jiang, K Middleton, HJ Yoon, C Fouquet, J Carbon. An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules. Mol Cell Biol 13:4884-4893, 1993.

C Cadwell, HJ Yoon, Y Zebarjadian, J Carbon. The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3. Mol Cell Biol 17:6175-6183, 1997. EV Koonin. Pseudouridine synthases: four families of enzymes containing a putative uridine-binding motif also conserved in dUTPases and dCTP deaminases. Nucleic Acids Res 24:2411-2415, 1996.

HF Becker, Y Motorin, RJ Planta, H Grosjean. The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs. Nucleic Acids Res 25:4493-4499, 1997. The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136, 1996. NS Heiss, A Girod, R Salowsky, S Wiemann, R Pepperkok, A Poustka. Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the patho-genesis of dyskeratosis congenita. Hum Mol Genet 8:2515-2524, 1999. B Phillips, AN Billin, C Cadwell, R Buchholz, C Erickson, JR Merriam, J Carbon, SJ Poole. The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast. Mol Gen Genet 260:20-29, 1998.

AI Lamond, WC Earnshaw. Structure and function in the nucleus. Science 280:547553, 1998.

AG Matera, MR Frey. Coiled bodies and gems: Janus or gemini? Am J Hum Genet 63:317-321, 1998.

T Pederson. The plurifunctional nucleolus. Nucleic Acids Res 26:3871-3876, 1998. C Isaac, Y Yang, UT Meier. Nopp140 functions as a molecular link between the nucleolus and the coiled bodies. J Cell Biol 142:319-329, 1998. UT Meier, G Blobel. Nopp140 shuttles on tracks between nucleolus and cytoplasm. Cell 70:127-138, 1992.

DL Lafontaine, D Tollervey. Birth of the snoRNPs: the evolution of the modification-guide snoRNAs Trends Biochem Sci 23:383-388, 1998.

DL Lafontaine, C Bousquet-Antonelli, Y Henry, M Caizergues-Ferrer, D Tollervey. The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase. Genes Dev 12:527-537, 1998.

Y Zebarjadian, T King, MJ Fournier, L Clarke, J Carbon. Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA. Mol Cell Biol 19:7461-7472, 1999.

V Ramamurthy, SL Swann, JL Paulson, CJ Spedaliere, EG Mueller. Critical aspartic acid residues in pseudouridine synthases. J Biol Chem 274:22225-22230, 1999.

J Ni, AL Tien, MJ Fournier. Small nucleolar RNAs direct site-specific synthesis of pseudouridine in ribosomal RNA. Cell 89:565-573, 1997.

A Henras, Y Henry, C Bousquet-Antonelli, J Noaillac-Depeyre, JP Gelugne, M Caiz-ergues-Ferrer. Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs. EMBO J 17:7078-7090, 1998.

55. JR Mitchell, E Wood, K Collins. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402:551-555, 1999.

56. T Pederson. Growth factors in the nucleolus? J Cell Biol 143:279-281, 1998.

57. JR Mitchell, J Cheng, K Collins. A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end. Mol Cell Biol 19:567-576, 1999.

58. K Collins. Mammalian telomeres and telomerase. Curr Opin Cell Biol 12:378-383, 2000.

59. C Bachor, OA Bachor, P Boukamp. Telomerase is active in normal gastrointestinal mucosa and not up-regulated in precancerous lesions. J Cancer Res Clin Oncol 125: 453-460, 1999.

60. CW Greider. Telomeres and senescence: the history, the experiment, the future. Curr Biol 8:R178-181, 1998.

61. SE Ball, FM Gibson, S Rizzo, JA Tooze, JC Marsh, EC Gordon-Smith. Progressive telomere shortening in aplastic anemia. Blood 91:3582-3592, 1998.

62. F Leteurtre, X Li, P Guardiola, G Le Roux, JC Sergere, P Richard, ED Carosella, E Gluckman. Accelerated telomere shortening and telomerase activation in Fanconi's anaemia. Br J Haematol 105:883-893, 1999.

63. JA Metcalfe, J Parkhill, L Campbell, M Stacey, P Biggs, PJ Byrd, AM Taylor. Accelerated telomere shortening in ataxia telangiectasia. Nat Genet 13:350-353, 1996.

64. TJ Vulliamy, SW Knight, PJ Mason, I Dokal. Very short telomeres in the peripheral blood of patients with x-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis 27:353-357, 2001.

65. CM Counter, J Gupta, CB Harley, B Leber, S Bacchetti. Telomerase activity in normal leukocytes and in hematologic malignancies. Blood 85:2315-2320, 1995.

66. JW Shay, WE Wright. Mutant dyskerin ends relationship with telomerase. Science 286:2284-2285, 1999.

67. S Marcand, V Brevet, C Mann, E Gilson. Cell cycle restriction of telomere elongation. Curr Biol 10:487-490, 2000.

68. RA Marciniak, FB Johnson, L Guarente. Dyskeratosis congenita, telomeres and human ageing. Trends Genet 16:193-195, 2000.

0 0

Post a comment