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Intellectual and Developmental Disabilities Research Center

Houston, Texas

Intellectual and Developmental Disabilities Research Center
Intellectual and Developmental Disabilities Research Center
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2001 Publications

  1. Abu-Elheiga L, Matzuk MM, Abo-Hashema KA, Wakil SJ (2001). Continuous fatty acid oxidation and reduced fat storage in mice lacking acetyl-CoA carboxylase 2. Science 291: 2613-2616.
  2. Anflous K, Armstrong DD, Craigen WJ (2001). Altered mitochondrial sensitivity for ADP and maintenance of creatine-stimulated respiration in oxidative striated muscles from VDAC1-deficient mice. J. Biol. Chem. 276: 1954-1960.
  3. Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israel A, Nelson DL (2001). Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am. J. Hum. Genet. 68: 765-771.
  4. Aradhya S, Bardaro T, Galgoczy P, Yamagata T, Esposito T, Patlan H, Ciccodicola A, Munnich A, Kenwrick S, Platzer M, D'Urso M, Nelson DL (2001). Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum. Mol. Genet. 10: 2557-2567.
  5. Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL (2001). A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum. Mol. Genet. 10: 2171-2179.
  6. Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV (2001). Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Hum. Genet. 108: 51-54.
  7. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR (2001). Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am. J. Hum. Genet. 68: 606-616.
  8. Beckstead R, Ortiz JA, Sanchez C, Prokopenko SN, Chambon P, Losson R, Bellen HJ (2001). Bonus, a Drosophila homolog of TIF1 proteins, interacts with nuclear receptors and can inhibit betaFTZ-F1-dependent transcription. Mol. Cell 7: 753-765.
  9. Bermingham NA, Hassan BA, Wang VY, Fernandez M, Banfi S, Bellen HJ, Fritzsch B, Zoghbi HY (2001). Proprioceptor pathway development is dependent on Math1. Neuron 30: 411-422.
  10. Bhat MA, Rios JC, Lu Y, Garcia-Fresco GP, Ching W, St Martin M, Li J, Einheber S, Chesler M, Rosenbluth J, Salzer JL, Bellen HJ (2001). Axon-glia interactions and the domain organization of myelinated axons requires neurexin IV/Caspr/Paranodin. Neuron 30: 369-383.
  11. Bhave G, Karim F, Carlton SM, Gereau RWt (2001). Peripheral group I metabotropic glutamate receptors modulate nociception in mice. Nat. Neurosci. 4: 417-423.
  12. Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR (2001). Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am. J. Hum. Genet. 68: 325-333.
  13. Bressler J, Tsai TF, Wu MY, Tsai SF, Ramirez MA, Armstrong D, Beaudet AL (2001). The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat. Genet. 28: 232-240.
  14. Cai WW, Chen R, Gibbs RA, Bradley A (2001). A clone-array pooled shotgun strategy for sequencing large genomes. Genome Res. 11: 1619-1623.
  15. Capovilla M, Kambris Z, Botas J (2001). Direct regulation of the muscle-identity gene apterous by a Hox protein in the somatic mesoderm. Development 128: 1221-1230.
  16. Chen R, Bouck JB, Weinstock GM, Gibbs RA (2001). Comparing vertebrate whole-genome shotgun reads to the human genome. Genome Res. 11: 1807-1816.
  17. Cheng Y, Endo K, Wu K, Rodan AR, Heberlein U, Davis RL (2001). Drosophila fasciclinII is required for the formation of odor memories and for normal sensitivity to alcohol. Cell 105: 757-768.
  18. Cho RJ, Huang M, Campbell MJ, Dong H, Steinmetz L, Sapinoso L, Hampton G, Elledge SJ, Davis RW, Lockhart DJ (2001). Transcriptional regulation and function during the human cell cycle. Nat. Genet. 27: 48-54.
  19. Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT (2001). A natural history of cleidocranial dysplasia. Am. J. Med. Genet. 104: 1-6.
  20. Cummings CJ, Sun Y, Opal P, Antalffy B, Mestril R, Orr HT, Dillmann WH, Zoghbi HY (2001). Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum. Mol. Genet. 10: 1511-18.
  21. Davis RL (2001). Mushroom bodies, Ca(2+) oscillations, and the memory gene amnesiac. Neuron 30: 653-656.
  22. de Iongh RU, Lovicu FJ, Overbeek PA, Schneider MD, Joya J, Hardeman ED, McAvoy JW (2001). Requirement for TGFbeta receptor signaling during terminal lens fiber differentiation. Development 128: 3995-4010.
  23. Dineley KT, Westerman M, Bui D, Bell K, Ashe KH, Sweatt JD (2001). Beta-amyloid activates the mitogen-activated protein kinase cascade via hippocampal alpha7 nicotinic acetylcholine receptors: In vitro and in vivo mechanisms related to Alzheimer's disease. J. Neurosci. 21: 4125-4133.
  24. Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israel A, Courtois G, Casanova JL (2001). X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat. Genet. 27: 277-285.
  25. Edelmann L, Stankiewicz P, Spiteri E, Pandita RK, Shaffer L, Lupski JR, Morrow BE (2001). Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Genome Res. 11: 208-217.
  26. Fergestad T, Wu MN, Schulze KL, Lloyd TE, Bellen HJ, Broadie K (2001). Targeted mutations in the syntaxin H3 domain specifically disrupt SNARE complex function in synaptic transmission. J. Neurosci. 21: 9142-9150.
  27. Frankfort BJ, Nolo R, Zhang Z, Bellen H, Mardon G (2001). senseless repression of rough is required for R8 photoreceptor differentiation in the developing Drosophila eye. Neuron 32: 403-414.
  28. Govindarajan V, Overbeek PA (2001). Secreted FGFR3, but not FGFR1, inhibits lens fiber differentiation. Development 128: 1617-1627.
  29. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA (2001). Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 414: 913-916.
  30. Howe L, Auston D, Grant P, John S, Cook RG, Workman JL, Pillus L (2001). Histone H3 specific acetyltransferases are essential for cell cycle progression. Genes Dev. 15: 3144-3154.
  31. Hu F, Wang Y, Liu D, Li Y, Qin J, Elledge SJ (2001). Regulation of the Bub2/Bfa1 GAP complex by Cdc5 and cell cycle checkpoints. Cell 107: 655-665.
  32. Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B (2001). The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 11: 1018-1033.
  33. Kamnasaran D, O'Brien PC, Schuffenhauer S, Quarrell O, Lupski JR, Grammatico P, Ferguson-Smith MA, Cox DW (2001). Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am. J. Med. Genet. 102: 173-182.
  34. Kapur A, Yeckel M, Johnston D (2001).Hippocampal mossy fiber activity evokes Ca2+ release in CA3 pyramidal neurons via a metabotropic glutamate receptor pathway. Neuroscience 107: 59-69.
  35. Karim F, Wang CC, Gereau RW IV (2001). Metabotropic glutamate receptor subtypes 1 and 5 are activators of extracellular signal-regulated kinase signaling required for inflammatory pain in mice. J. Neurosci. 21: 3771-3779.
  36. Karsenty G (2001). When developmental biology meets human pathology. Proc. Natl. Acad. Sci. USA 98: 5385-5386.
  37. Katsanis N, Worley KC, Lupski JR (2001). An evaluation of the draft human genome sequence. Nat. Genet. 29: 88-91.
  38. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR (2001). Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293: 2256-2259.
  39. Katsanis N, Lupski JR, Beales PL (2001). Exploring the molecular basis of Bardet-Biedl syndrome. Hum. Mol. Genet. 10: 2293-2299.
  40. Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, Lyonnet S, Bonnefont JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, Nelson DL, Levy M, Lewis RA (2001). Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am. J. Hum. Genet. 69: 1210-1217.
  41. Kern B, Shen J, Starbuck M, Karsenty G (2001). Cbfa1 contributes to the osteoblast-specific expression of type I collagen genes. J. Biol.Chem. 276: 7101-7107.
  42. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann N, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowski J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, Szustakowki J, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ (2001). Initial sequencing and analysis of the human genome. Nature 409: 860-921.
  43. Lev-Lehman E, Bercovich D, Xu W, Stockton DW, Beaudet AL (2001). Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. J. Hum. Genet. 46: 362-366.
  44. Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB (2001). Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum. Genet. 109: 535-541.
  45. Lindsay EA, Baldini A (2001). Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. Hum. Mol. Genet. 10: 997-1002.
  46. Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A (2001). Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410: 97-101.
  47. Lloyd TE, Bellen HJ (2001). pRIMing synaptic vesicles for fusion. Nat. Neurosci. 4: 965-966.
  48. Lu HC, Gonzalez E, Crair MC (2001). Barrel cortex critical period plasticity is independent of changes in NMDA receptor subunit composition. Neuron 32: 619-634.
  49. McGuire SE, Le PT, Davis RL (2001). The role of Drosophila mushroom body signaling in olfactory memory. Science 293: 1330-1333.
  50. McPherson JD, Marra M, Hillier L, Waterston RH, Chinwalla A, Wallis J, Sekhon M, Wylie K, Mardis ER, Wilson RK, Fulton R, Kucaba TA, Wagner-McPherson C, Barbazuk WB, Gregory SG, Humphray SJ, French L, Evans RS, Bethel G, Whittaker A, Holden JL, McCann OT, Dunham A, Soderlund C, Scott CE, Bentley DR, Schuler G, Chen HC, Jang W, Green ED, Idol JR, Maduro VV, Montgomery KT, Lee E, Miller A, Emerling S, Kucherlapati, Gibbs R, Scherer S, Gorrell JH, Sodergren E, Clerc-Blankenburg K, Tabor P, Naylor S, Garcia D, de Jong PJ, Catanese JJ, Nowak N, Osoegawa K, Qin S, Rowen L, Madan A, Dors M, Hood L, Trask B, Friedman C, Massa H, Cheung VG, Kirsch IR, Reid T, Yonescu R, Weissenbach J, Bruls T, Heilig R, Branscomb E, Olsen A, Doggett N, Cheng JF, Hawkins T, Myers RM, Shang J, Ramirez L, Schmutz J, Velasquez O, Dixon K, Stone NE, Cox DR, Haussler D, Kent WJ, Furey T, Rogic S, Kennedy S, Jones S, Rosenthal A, Wen G, Schilhabel M, Gloeckner G, Nyakatura G, Siebert R, Schlegelberger B, Korenberg J, Chen XN, Fujiyama A, Hattori M, Toyoda A, Yada T, Park HS, Sakaki Y, Shimizu N, Asakawa S, Kawasaki K, Sasaki T, Shintani A, Shimizu A, Shibuya K, Kudoh J, Minoshima S, Ramser J, Seranski P, Hoff C, Poustka A, Reinhardt R, Lehrach H (2001). A physical map of the human genome. Nature 409: 934-941.
  51. Mirnikjoo B, Brown SE, Kim HF, Marangell LB, Sweatt JD, Weeber EJ (2001). Protein kinase inhibition by omega-3 fatty acids. J. Biol. Chem. 276: 10888-10896.
  52. Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B (2001). Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat. Genet. 27: 205-208.
  53. Nolo R, Abbott LA, Bellen HJ (2001). Drosophila Lyra mutations are gain-of-function mutations of senseless. Genetics 157: 307-315.
  54. Oh H, Taffet GE, Youker KA, Entman ML, Overbeek PA, Michael LH, Schneider MD (2001). Telomerase reverse transcriptase promotes cardiac muscle cell proliferation, hypertrophy, and survival. Proc. Natl. Acad. Sci. USA 98:10308-10313.
  55. Patel PI, Isaya G (2001). Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency. Am. J. Hum. Genet. 69: 15-24.
  56. Patel P (2001). Soundbites. Nat. Genet. 27: 129-130.
  57. Paylor R, McIlwain KL, McAninch R, Nellis A, Yuva-Paylor LA, Baldini A, Lindsay EA (2001). Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Hum. Mol. Genet. 10: 2645-2650.
  58. Piedras-Renteria ES, Watase K, Harata N, Zhuchenko O, Zoghbi HY, Lee CC, Tsien RW (2001). Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. J. Neurosci. 21: 9185-9193.
  59. Qin C, Cook RG, Orkiszewski RS, Butler WT (2001). Identification and characterization of the carboxyl-terminal region of rat dentin sialoprotein. J. Biol. Chem. 276: 904-909.
  60. Riquet FB, Tan L, Choy BK, Osaki M, Karsenty G, Osborne TF, Auron PE, Goldring MB (2001). YY1 is a positive regulator of transcription of the Col1a1 gene. J. Biol. Chem. 276: 38665-38672.
  61. Roman G, Endo K, Zong L, Davis RL (2001). P[Switch], a system for spatial and temporal control of gene expression in Drosophila melanogaster. Proc. Natl. Acad. Sci. USA 98: 12602-12607.
  62. Sampson MJ, Decker WK, Beaudet AL, Ruitenbeek W, Armstrong D, Hicks MJ, Craigen WJ (2001). Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3. J. Biol. Chem. 276: 39206-39212.
  63. Selcher JC, Nekrasova T, Paylor R, Landreth GE, Sweatt JD (2001). Mice lacking the ERK1 isoform of MAP kinase are unimpaired in emotional learning. Learn. Mem. 8: 11-19.
  64. Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M (2001). Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum. Mol. Genet. 10: 231-236.
  65. Shahbazian MD, Antalffy B, Armstrong D, Zoghbi HY (2001). Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum. Mol. Genet. 11: 115-124.
  66. Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR (2001). Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum. Mol. Genet. 10: 2671-2678.
  67. Stankiewicz P, Park SS, Inoue K, Lupski JR (2001). The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res. 11: 1205-1210.
  68. Strang C, Cushman SJ, DeRubeis D, Peterson D, Pfaffinger PJ (2001). A central role for the T1 domain in voltage-gated potassium channel formation and function. J. Biol. Chem. 276: 28493-28502.
  69. Swank MW, Sweatt JD (2001). Increased histone acetyltransferase and lysine acetyltransferase activity and biphasic activation of the ERK/RSK cascade in insular cortex during novel taste learning. J. Neurosci. 21: 3383-3391.
  70. Sweatt JD (2001). Protooncogenes subserve memory formation in the adult CNS. Neuron 31: 671-674.
  71. Takeda S, Bonnamy JP, Owen MJ, Ducy P, Karsenty G (2001). Continuous expression of Cbfa1 in nonhypertrophic chondrocytes uncovers its ability to induce hypertrophic chondrocyte differentiation and partially rescues Cbfa1-deficient mice. Genes Dev. 15: 467-481.
  72. Timchenko NA, Cai ZJ, Welm AL, Reddy S, Ashizawa T, Timchenko LT (2001). RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J. Biol. Chem. 276: 7820-7826.
  73. Urban Z, Zhang J, Davis EC, Maeda GK, Kumar A, Stalker H, Belmont JW, Boyd CD, Wallace MR (2001). Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. Hum. Genet. 109: 512-520.
  74. Verstreken P, Bellen HJ (2001). Neuroscience. The meaning of a mini. Science 293: 443-444.
  75. Vitale E, Brancolini V, De Rienzo A, Bird L, Allada V, Sklansky M, Chae CU, Ferrero GB, Weber J, Devoto M, Casey B (2001). Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p. J. Med. Genet. 38: 182-185.
  76. Wang H, Liu D, Wang Y, Qin J, Elledge SJ (2001). Pds1 phosphorylation in response to DNA damage is essential for its DNA damage checkpoint function. Genes Dev. 15: 1361-1372.
  77. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE (2001). Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am. J. Med. Genet. 102: 11-17.
  78. Yang Q, Bermingham NA, Finegold MJ, Zoghbi HY (2001). Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science 294: 2155-2158.
  79. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR (2001). Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum. Genet. 108: 346-355.
  80. Yue S, Serra HG, Zoghbi HY, Orr HT (2001). The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Hum. Mol. Genet. 10: 25-30.
  81. Zhao S, Hung FC, Colvin JS, White A, Dai W, Lovicu FJ, Ornitz DM, Overbeek PA (2001). Patterning the optic neuroepithelium by FGF signaling and Ras activation. Development 128: 5051-5060.
  82. Zheng B, Albrecht U, Kaasik K, Sage M, Lu W, Vaishnav S, Li Q, Sun ZS, Eichele G, Bradley A, Lee CC (2001). Nonredundant roles of the mPer1 and mPer2 genes in the mammalian circadian clock. Cell 105: 683-694.
  83. Zwingman TA, Neumann PE, Noebels JL, Herrup K (2001). Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a. J. Neurosci. 21: 1169-1178.

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