National Institute on Aging
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Laboratory of Genetics
2001 - 2004 Publications

  1. Abe K, Yuzuriha M, Sugimoto M, Ko MS, Brathwaite M, Waeltz P, Nagaraja R. Gene content of the 750-kb critical region for mouse embryonic ectoderm lethal tcl-w5. Mamm Genome. 2004;15(4): 265-276.

  2. Andrew Nesbit M, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV. X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. Genomics. 2004;84(6): 1060-1070.

  3. Bektas A, Schurman SH, Sharov AA, Carter MG, Dietz HC, Francomano CA. Klotho gene variation and expression in 20 inbred mouse strains. Mamm Genome. 2004;15(10): 759-767.

  4. Chi T, Yan Z, Xue Y, Wang W. Purification and functional analysis of the mammalian SWI/SNF-family of chromatin-remodeling complexes. Methods Enzymol. 2004;377: 299-316.

  5. Crisponi L, Uda M, Deiana M, Loi A, Nagaraja R, Chiappe F, Schlessinger D, Cao A, Pilia G. FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. Genomics. 2004;83(5): 757-764.

  6. Doan DN, Veal TM, Yan Z, Wang W, Jones SN, Imbalzano AN. Loss of the INI1 tumor suppressor does not impair the expression of multiple BRG1-dependent genes or the assembly of SWI/SNF enzymes. Oncogene. 2004;23(19): 3462-3473.

  7. Glenn CF, Chow DK, David L, Cooke CA, Gami MS, Iser WB, Hanselman KB, Goldberg IG, Wolkow CA. Behavioral deficits during early stages of aging in Caenorhabditis elegans result from locomotory deficits possibly linked to muscle frailty. J Gerontol A Biol Sci Med Sci. 2004;59(12):1251-1260.

  8. Hamatani T, Carter MG, Sharov AA, Ko MS. Dynamics of global gene expression changes during mouse preimplantation development. Dev Cell. 2004;6(1): 117-131.

  9. Hamatani T, Daikoku T, Wang H, Matsumoto H, Carter MG, Ko MS, Dey SK. Global gene expression analysis identifies molecular pathways distinguishing blastocyst dormancy and activation. Proc Natl Acad Sci USA. 2004;101(28): 10326-10331.

  10. Hamatani T, Falco G, Carter MG, Akutsu H, Stagg CA, Sharov AA, Dudekula DB, VanBuren V, Ko MS. Age-associated alteration of gene expression patterns in mouse oocytes. Hum Mol Genet. 2004;13(19): 2263-2278.

  11. Ho NC, Guarnieri M, Brant LJ, Park SS, Sun B, North M, Francomano CA, Carson BS. Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. Am J Med Genet A. 2004;131A(2): 163-167.

  12. Kim AJ, Lee CS, Schlessinger D. Bex3 associates with replicating mitochondria and is involved in possible growth control of F9 teratocarcinoma cells. Gene. 2004;343: 79-89.

  13. Ko MS. Embryogenomics of pre-implantation mammalian development: current status. Reprod Fertil Dev. 2004;16(2): 79-85.

  14. Ko MS, Lee UH, Kim SI, Kim HJ, Park JJ, Cha SJ, Kim SB, Song H, Chung DK, Han IS, Kwack K, Park JW. Overexpression of DRG2 suppresses the growth of Jurkat T cells but does not induce apoptosis. Arch Biochem Biophys. 2004;422(2): 137-144.

  15. Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H. X-linked inheritance of Fanconi anemia complementation group B. Nat Genet. 2004;36(11): 1219-1224.

  16. Meetei AR, Yan Z, Wang W. FANCL replaces BRCA1 as the likely ubiquitin ligase responsible for FANCD2 monoubiquitination. Cell Cycle. 2004;3(2): 179-181.

  17. Ottolenghi C, Uda M, Hamatani T, Crisponi L, Garcia JE, Ko M, Pilia G, Sforza C, Schlessinger D, Forabosco A. Aging of oocyte, ovary, and human reproduction. Ann NY Acad Sci. 2004;1034: 117-131.

  18. Song H, Kim SI, Ko MS, Kim HJ, Heo JC, Lee HJ, Lee HS, Han IS, Kwack K, Park JW. Overexpression of DRG2 increases G2/M phase cells and decreases sensitivity to nocodazole-induced apoptosis. J Biochem (Tokyo). 2004;135(3): 331-335.

  19. Tanaka TS, Ko MS. A global view of gene expression in the preimplantation mouse embryo: morula versus blastocyst. Eur J Obstet Gynecol Reprod Biol. 2004;115 Suppl 1: S85-S91.

  20. Uda M, Ottolenghi C, Crisponi L, Garcia JE, Deiana M, Kimber W, Forabosco A, Cao A, Schlessinger D, Pilia G. Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. Hum Mol Genet. 2004;13(11): 1171-1181.

  21. Yin J, Haney L, Walk S, Zhou S, Ravichandran KS, Wang W. Nuclear localization of the DOCK180/ELMO complex. Arch Biochem Biophys. 2004;429(1): 23-29.

  22. Yin J, Kwon YT, Varshavsky A, Wang W. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Hum Mol Genet. 2004;13(20): 2421-2430.

  23. Zhang Z, McCaffery JM, Spencer RG, Francomano CA. Hyaline cartilage engineered by chondrocytes in pellet culture: histological, immunohistochemical and ultrastructural analysis in comparison with cartilage explants. J Anat. 2004;205(3): 229-237.

  24. Buttitta L, Tanaka TS, Chen AE, Ko MS, Fan CM. Microarray analysis of somitogenesis reveals novel targets of different WNT signaling pathways in the somitic mesoderm. Dev. Biol. 2003;258(1): 91-104.

  25. Carter MG, Hamatani T, Sharov AA, Carmack CE, Qian Y, Aiba K, Ko NT, Dudekula DB, Brzoska PM, Hwang SS, Ko MS. In situ-synthesized novel microarray optimized for mouse stem cell and early developmental expression profiling. Genome Res. 2003;13(5): 1011-1021.

  26. Carter MG, Piao Y, Dudekula DB, Qian Y, VanBuren V, Sharov AA, Tanaka TS, Martin PR, Bassey UC, Stagg CA, Aiba K, Hamatani T, Matoba R, Kargul GJ, Ko MS. The NIA cDNA project in mouse stem cells and early embryos. C R Biol. 2003;326(10-11): 931-940.

  27. Cui CY, Durmowicz M, Ottolenghi C, Hashimoto T, Griggs B, Srivastava AK, Schlessinger D. Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles. Hum. Mol. Genet. 2003;12(22): 2931-2940.

  28. Francomano CA, McKusick VA, Biesecker LG. Medical genetic studies in the Amish: historical perspective. Am. J. Med. Genet. 2003;121C(1): 1-4.

  29. Galaviz-Hernandez C, Stagg C, de Ridder G, Tanaka TS, Ko MS, Schlessinger D, Nagaraja R. Plac8 and Plac9, novel placental-enriched genes identified through microarray analysis. Gene. 2003;309(2): 81-89.

  30. Gilbert JM, Goldberg IG, Benjamin TL. Cell penetration and trafficking of polyomavirus. J. Virol. 2003;77(4): 2615-2622.

  31. Ho NC, Sandusky S, Madike V, Francomano CA, Dalakas MC. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. BMC Neurol. 2003;3(1): 3.

  32. Hsiao PW, Fryer CJ, Trotter KW, Wang W, Archer TK. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. Mol. Cell Biol. 2003;23(17): 6210-6220.

  33. Kimber WL, Puri N, Borgmeyer C, Ritter D, Sharov A, Seidman M, and Ko MSH. Efficacy of 2-methoxyethoxy (2'-MOE)-modified antisense oligonucleotides for the study of mouse preimplantation development. Reprod. Biomed. Online. 2003;6: 318-322.

  34. Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA. The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genet. Med. 2003;5(1): 21-27.

  35. Lin T, Sandusky SB, Xue H, Fishbein KW, Spencer RG, Rao MS, Francomano CA. A central nervous system specific mouse model for thanatophoric dysplasia type II.Hum Mol Genet. 2003;12(21):2863-2871.

  36. Meetei AR, de Winter JP, Medhurst AL, Wallisch M, Waisfisz Q, van de Vrugt HJ, Oostra AB, Yan Z, Ling C, Bishop CE, Hoatlin ME, Joenje H, Wang W. A novel ubiquitin ligase is deficient in Fanconi anemia. Nature Genetics. 2003;35(2): 165-170.

  37. Meetei AR, Sechi S, Wallisch M, Yang D, Young MK, Joenje H, Hoatlin ME, Wang W. A Multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol. Cell Biol. 2003;23(10): 3417-3426.

  38. Nie Z, Yan Z, Chen EH, Sechi S, Ling C, Zhou S, Xue Y, Yang D, Murray D, Kanakubo E, Cleary ML, Wang W. Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner. Mol. Cell Biol. 2003;3(8): 2942-2952.

  39. Platte P, Papanicolaou GJ, Johnston J, Klein CM, Doheny KF, Pugh EW, Roy-Gagnon MH, Stunkard AJ, Francomano CA, Wilson AF. A study of linkage and association of body mass index in the Old Order Amish. Am. J. Med. Genet. 2003;121C(1): 71-80.

  40. Ridanpaa M, Jain P, McKusick VA, Francomano CA, Kaitila I. The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases. Am. J. Med. Genet. 2003;121C(1): 81-83.

  41. Sharov AA, Piao Y, Matoba R, Dudekula DB, Qian Y, VanBuren V, Falco G, Martin PR, Stagg CA, Bassey UC, Wang Y, Carter MG, Hamatani T, Aiba K, Akutsu H, Sharova L, Tanaka TS, Kimber WL, Yoshikawa T, Jaradat SA, Pantano S, Nagaraja R, Boheler KR, Taub D, Hodes RJ, Longo DL, Schlessinger D, Keller J, Klotz E, Kelsoe G, Umezawa A, Vescovi AL, Rossant J, Kunath T, Hogan BL, Curci A, D'Urso M, Kelso J, Hide W, Ko MS. Transcriptome analysis of mouse stem cells and early embryos. PLoS Biol. 2003;1(3): E74.

  42. Suemizu H, Aiba K, Yoshikawa T, Sharov AA, Shimozawa N, Tamaoki N, Ko MS. Expression profiling of placentomegaly associated with nuclear transplantation of mouse ES cells. Dev. Biol. 2003;253(1): 36-53.

  43. Swedlow JR, Goldberg I, Brauner E, Sorger PK. Informatics and quantitative analysis in biological imaging. Science. 2003;300(5616): 100-102.

  44. Xue Y, Gibbons R, Yang D, McDowell T, Sechi S, Qin J, Zhou S, Higgs D, Wang W The ATRX syndrome protein forms a new chromatin-remodeling complex with Daxx and localizes in PML nuclear bodies. Proc. Natl. Acad. Sci. USA. 2003;100: 10635-10640, 2003.

  45. Zhang ZJ, Huckle J, Francomano CA, Spencer RG. The effects of pulsed low-intensity ultrasound on chondrocyte viability, proliferation, gene expression and matrix production. Ultrasound Med. Biol. 2003;29(11): 1645-1651.

  46. Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am. J. Hum. Genet. 2002;70(5): 1368-1375.

  47. Chen G, Jaradat SA, Banerjee N, Tanaka TS, Ko MSH, Zhang MQ. Evaluation and comparison of clustering algorithms in analyzing ES cell gene expression data. Statistica Sinica. 2002;12: 241-262.

  48. Chiao E, Fisher P, Crisponi L, Deiana M, Dragatsis I, Schlessinger D, Pilia G, Efstratiadis A. Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling. Dev. Biol. 2002;243(1): 185-206.

  49. Cui CY, Durmowicz M, Tanaka TS, Hartung AJ, Tezuka T, Hashimoto K, Ko MS, Srivastava AK, Schlessinger D. EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice. Hum. Mol. Genet. 2002;11(15): 1763-1773.

  50. Durmowicz MC, Cui CY, Schlessinger D. The EDA gene is a target of, but does not regulate Wnt signaling. Gene. 2002;285(1-2): 203-211.

  51. Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML. The mutational spectrum of brachydactyly type C. Am. J. Med. Genet. 2002;112(3): 291-296.

  52. Fant M, Weisoly DL, Cocchia M, Huber R, Khan S, Lunt T, Schlessinger D. PLAC1, a trophoblast-specific gene, is expressed throughout pregnancy in the human placenta and modulated by keratinocyte growth factor. Mol. Reprod. Dev. 2002;63(4): 430-436.

  53. Gooding HC, Boehm K, Thompson RE, Hadley D, Francomano CA, Biesecker BB. Issues surrounding prenatal genetic testing for achondroplasia. Prenat. Diagn. 2002;22(10): 933-940.

  54. Ho NC, Hadley DW, Jain PK, Francomano CA. Case 47: dural ectasia associated with Marfan syndrome. Radiology. 2002;223(3): 767-771.

  55. Jia L, Young MF, Powell J, Yang L, Ho NC, Hotchkiss R, Robey PG, Francomano CA. Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. Genomics. 2002;79(1): 7-17.

  56. Leach RE, Duniec-Dmuchowski ZM, Pesole G, Tanaka TS, Ko MS, Armant RD, Krawetz SA. Identification, molecular characterization, and tissue expression of OVCOV1. Mamm. Genome. 2002;13(11): 619-624.

  57. Li J, Lin Q, Wang W, Wade P, Wong J. Specific targeting and constitutive association of histone deacetylase complexes during transcriptional repression. Genes Dev. 2002;16(6): 687-692.

  58. Olave I, Wang W, Xue Y, Kuo A, Crabtree GR. Identification of a polymorphic, neuron-specific chromatin remodeling complex. Genes Dev. 2002;16(19): 2509-2517.

  59. Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G, Forabosco A. Genes and translocations involved in POF. Am. J. Med. Genet. 2002;111(3): 328-333.

  60. Suemizu H, Aiba H, Yoshikawa T, Sharov AA, Shimozawa N, Tamaoki N, Ko MSH. Expression profiling of placentomegaly associated with nuclear transplantation of mouse ES cells. Dev. Biol. 2002;253: 36-53.

  61. Tanaka TS, Kunath T, Kimber WL, Jaradat SA, Stagg CA, Usuda M, Yokota T, Niwa H, Rossant J, Ko MS. Gene expression profiling of embryo-derived stem cells reveals candidate genes associated with pluripotency and lineage specificity. Genome Res. 2002;12(12): 1921-1928.

  62. VanBuren V, Piao Y, Dudekula DB, Qian Y, Carter MG, Martin PR, Stagg CA, Bassey UC, Aiba K, Hamatani T, Kargul GJ, Luo AG, Kelso J, Hide W, Ko MS. Assembly, verification, and initial annotation of the NIA mouse 7.4K cDNA clone set. Genome Res. 2002;12(12): 1999-2003.

  63. Zhang ZJ, Huckle J, Francomano CA, Spencer RG. The influence of pulsed low-intensity ultrasound on matrix production of chondrocytes at different stages of differentiation: an explant study. Ultrasound Med. Biol. 2002;28(11-12): 1547-1553.

  64. Barrett T, Xie T, Piao Y, Dillon-Carter O, Kargul GJ, Lim MK, Chrest FJ, Wersto R, Rowley DL, Juhaszova M, Zhou L, Vawter MP, Becker KG, Cheadle C, Wood WH 3rd, McCann UD, Freed WJ, Ko MS, Ricaurte GA, Donovan DM. A murine dopamine neuron-specific cDNA library and microarray: increased COX1 expression during methamphetamine neurotoxicity. Neurobiol. Dis. 2001;8(5): 822-33.

  65. Cintron VJ, Ko MSH, Chi KD, Gross JP, Srinivas PR, Goustin AS, Grunberger G. Genetic mapping and functional studies of a natural inhibitor of the insulin receptor tyrosine kinase: the mouse ortholog of human alpha2-HS glycoprotein. Int J Exp Diabetes Res. 2001;1: 249-263.

  66. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet. 2001;27(2): 159-166.

  67. Decristofaro MF, Betz BL, Rorie CJ, Reisman DN, Wang W, Weissman BE. Characterization of SWI/SNF protein expression in human breast cancer cell lines and other malignancies. J. Cell Physiol. 2001;186(1): 136-145.

  68. Hudson TJ, Church DM, Greenaway S, Nguyen H, Cook A, Steen RG, Van Etten WJ, Castle AB, Strivens MA, Trickett P, Heuston C, Davison C, Southwell A, Hardisty R, Varela-Carver A, Haynes AR, Rodriguez-Tome P, Doi H, Ko MS, Pontius J, Schriml L, Wagner L, Maglott D, Brown SD, Lander ES, Schuler G, Denny P. A radiation hybrid map of mouse genes. Nat. Genet. 2001;29(2): 201-205.

  69. Iwata T, Li CL, Deng CX, Francomano CA. Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. Hum. Mol. Genet. 2001;10(12): 1255-1264.

  70. Jia L, Ho NC, Park SS, Powell J, Francomano CA. Comprehensive resource: Skeletal gene database. Am. J. Med. Genet. 2001;106(4): 275-281.

  71. Kargul GJ, Dudekula DB, Qian Y, Lim MK, Jaradat SA, Tanaka TS, Carter MG, Ko MSH. Verification and initial annotation of the NIA mouse 15K cDNA clone set. Nature Genetics. 2001;28: 17-18.

  72. Khan S, Blackburn M, Mao DL, Huber R, Schlessinger D, Fant M. Glypican-3 (GPC3) expression in human placenta: localization to the differentiated syncytiotrophoblast. Histol. Histopathol. 2001;16(1): 71-78.

  73. King LM, Francomano CA. Characterization of a human gene encoding nucleosomal binding protein NSBP1. Genomics. 2001;71(2): 163-173.

  74. Ko MS. Embryogenomics: developmental biology meets genomics. Trends Biotechnol. 2001;19(12): 511-518.

  75. Leach R, Duniec-Dmuchowski Z, Tanaka T, Ko MS, Krawetz SA. Assignment of OVCOV1 (alias CGI-15) to human chromosome 20 band q13.1-->q13.2 by fluorescent in situ hybridization. Cytogenet. Cell Genet. 2001;94(3-4): 252-253.

  76. Mumm S, Herrera L, Waeltz PW, Scardovi A, Nagaraja R, Esposito T, Schlessinger D, Rocchi M, Forabosco A. X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes. Genomics. 2001;76(1-3): 30-36.

  77. Peters KF, Kong F, Horne R, Francomano CA, Biesecker BB. Living with Marfan syndrome I. Perceptions of the condition. Clin. Genet. 2001;60(4): 273-282.

  78. Peters KF, Horne R, Kong F, Francomano CA, Biesecker BB. Living with Marfan syndrome II. Medication adherence and physical activity modification. Clin. Genet. 2001;60(4): 283-292.

  79. Piao Y, Ko NT, Lim MK, Ko MSH. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Genome Res. 2001;11: 1553-1558.

  80. Rose PS, Ahn NU, Levy HP, Ahn UM, Davis J, Liberfarb RM, Nallamshetty L, Sponseller PD, Francomano CA. Thoracolumbar spinal abnormalities in Stickler syndrome. Spine. 2001;26(4): 403-409.

  81. Rose PS, Ahn NU, Levy HP, Magid D, Davis J, Liberfarb RM, Sponseller PD, Francomano CA. The hip in Stickler syndrome. J. Pediatr. Orthop. 2001;21(5): 657-663.

  82. Sano Y, Shimada T, Nakashima H, Nicholson RH, Eliason JF, Kocarek TA, Ko MS. Random monoallelic expression of three genes clustered within 60 kb of mouse t complex genomic DNA. Genome Res. 2001;11(11): 1833-1841.

  83. Schlessinger D, Van Zant G. Does functional depletion of stem cells drive aging? Mech. Ageing Dev. 2001;122(14): 1537-1553.

  84. Srivastava AK, Durmowicz MC, Hartung AJ, Hudson J, Ouzts LV, Donovan DM, Cui CY, Schlessinger D. Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice. Hum. Mol. Genet. 2001;10(26): 2973-2981.

  85. Szymko-Bennett YM, Mastroianni MA, Shotland LI, Davis J, Ondrey FG, Balog JZ, Rudy SF, McCullagh L, Levy HP, Liberfarb RM, Francomano CA, Griffith AJ. Auditory dysfunction in Stickler syndrome. Arch. Otolaryngol. Head Neck Surg. 2001;127(9): 1061-1068.

  86. Toretsky JA, Zitomersky NL, Eskenazi AE, Voigt RW, Strauch ED, Sun CC, Huber R, Meltzer SJ, Schlessinger D. Glypican-3 expression in Wilms tumor and hepatoblastoma. J. Pediatr. Hematol. Oncol. 2001;23(8): 496-499.

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Updated: Thursday October 11, 2007