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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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2002 Publications

  1. Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT (2002). Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat. Genet. 32: 614-621.
  2. Bachant J, Alcasabas A, Blat Y, Kleckner N, Elledge SJ (2002). The SUMO-1 isopeptidase Smt4 is linked to centromeric cohesion through SUMO-1 modification of DNA topoisomerase II. Mol. Cell. 9: 1169-1182.
  3. Baldini A (2002). DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum. Mol. Genet. 11: 2363-2369.
  4. Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE (2002). Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc. Natl. Acad. Sci. USA 99: 10282-10286.
  5. Beaudet AL (2002). Is medical genetics neglecting epigenetics? Genet. Med. 4:399-402.
  6. Beaudet AL, Jiang YH (2002). A rheostat model for a rapid and reversible form of imprinting-dependent evolution. Am. J. Hum. Genet. 70: 1389-1397.
  7. Berend SA, Bodamer OA, Shapira SK, Shaffer LG, Bacino CA (2002). Familial complex chromosomal rearrangement resulting in a recombinant chromosome. Am. J. Med. Genet. 109: 311-317.
  8. Bhave G, Zhu W, Wang H, Brasier DJ, Oxford GS, Gereau RW IV (2002). cAMP-dependent protein kinase regulates desensitization of the capsaicin receptor (VR1) by direct phosphorylation. Neuron 35: 721-731.
  9. Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR (2002). Genes in a refined smith-magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res. 12: 713-728.
  10. Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Frund S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW (2002). Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat. Genet. 30: 215-220.
  11. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR (2002). Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51:190-201.
  12. Boggs BA, Cheung P, Heard E, Spector DL, Chinault AC, Allis CD (2002). Differentially methylated forms of histone H3 show unique association patterns with inactive human X chromosomes. Nat. Genet. 30: 73-76.
  13. Bontekoe CJ, McIlwain KL, Nieuwenhuizen IM, Yuva-Paylor LA, Nellis A, Willemsen R, Fang Z, Kirkpatrick L, Bakker CE, McAninch R, Cheng NC, Merriweather M, Hoogeveen AT, Nelson D, Paylor R, Oostra BA (2002). Knockout mouse model for Fxr2: a model for mental retardation. Hum. Mol. Genet. 11: 487-498.
  14. Chen P, Johnson JE, Zoghbi HY, Segil N (2002). The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination. Development 129: 2495-2505.
  15. Chen Q, Dowhan DH, Liang D, Moore DD, Overbeek PA (2002). CREB-binding protein/p300 co-activation of crystallin gene expression. J. Biol.Chem. 277: 24081-24089.
  16. Chern JJ, Choi KW (2002). Lobe mediates Notch signaling to control domain-specific growth in the Drosophila eye disc. Development 129: 4005-4013.
  17. Colmenares C, Heilstedt HA, Shaffer LG, Schwartz S, Berk M, Murray JC, Stavnezer E (2002). Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. Nat. Genet. 30: 106-109.
  18. Coveler KJ, Yang SP, Sutton R, Milstein JM, Wu YQ, Bois KD, Beischel LS, Johnson JP, Shaffer LG (2002). A case of segmental paternal isodisomy of chromosome 14. Hum. Genet. 110: 251-256.
  19. D'Alonzo RC, Selvamurugan N, Karsenty G, Partridge NC (2002). Physical interaction of the activator protein-1 factors c-Fos and c-Jun with Cbfa1 for collagenase-3 promoter activation. J. Biol. Chem. 277: 816-822.
  20. Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI (2002). Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum. Genet. 110: 371-376.
  21. Dineley KT, Xia X, Bui D, Sweatt JD, Zheng H (2002). Accelerated plaque accumulation, associative learning deficits, and up-regulation of alpha 7 nicotinic receptor protein in transgenic mice co-expressing mutant human presenilin 1 and amyloid precursor proteins. J. Biol. Chem. 277: 22768-22780.
  22. Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N (2002). Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am. J. Hum. Genet. 70: 955-964.
  23. Faas GC, Adwanikar H, Gereau RW IV, Saggau P (2002). Modulation of presynaptic calcium transients by metabotropic glutamate receptor activation: a differential role in acute depression of synaptic transmission and long-term depression. J. Neurosci. 22: 6885-6890.
  24. Frankfort BJ, Mardon G (2002). R8 development in the Drosophila eye: a paradigm for neural selection and differentiation. Development 129: 1295-1306.
  25. Gu Y, McIlwain KL, Weeber EJ, Yamagata T, Xu B, Antalffy BA, Reyes C, Yuva-Paylor L, Armstrong D, Zoghbi H, Sweatt JD, Paylor R, Nelson DL (2002). Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J. Neurosci. 22: 2753-2763.
  26. Glaze DG (2002). Neurophysiology of Rett syndrome. Ment. Retard. Dev.Disabil. Res. Rev. 8: 66-71.
  27. Hu HJ, Bhave G, Gereau RW IV (2002). Prostaglandin and protein kinase A-dependent modulation of vanilloid receptor function by metabotropic glutamate receptor 5: potential mechanism for thermal hyperalgesia. J. Neurosci. 22: 7444-7452.
  28. Izaddoost S, Nam SC, Bhat MA, Bellen HJ, Choi KW (2002). Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres. Nature 416: 178-183.
  29. Jahng AW, Strang C, Kaiser D, Pollard T, Pfaffinger P, Choe S (2002). Zinc mediates assembly of the T1 domain of the voltage-gated K channel 4.2. J. Biol. Chem. 277: 47885-47890.
  30. Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (2002). Presenilin couples the paired phosphorylation of beta-catenin independent of axin: implications for beta-catenin activation in tumorigenesis. Cell 110: 751-762.
  31. Kango-Singh M, Nolo R, Tao C, Verstreken P, Hiesinger PR, Bellen HJ, Halder G (2002). Shar-pei mediates cell proliferation arrest during imaginal disc growth in Drosophila. Development 129: 5719-5730.
  32. Kato M, Patel MS, Levasseur R, Lobov I, Chang BH, Glass DA, 2nd, Hartmann C, Li L, Hwang TH, Brayton CF, Lang RA, Karsenty G, Chan L (2002). Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor. J. Cell. Biol. 157: 303-314.
  33. Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR (2002). BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am. J. Hum. Genet. 71: 22-29.
  34. Kjaerulff O, Verstreken P, Bellen HJ (2002). Synaptic vesicle retrieval: still time for a kiss. Nat. Cell. Biol. 4: E245-E248.
  35. Levin HS, Hanten G, Chang CC, Zhang L, Schachar R, Ewing-Cobbs L, Max JE (2002). Working memory after traumatic brain injury in children. Ann. Neurol. 52: 82-88.
  36. Lloyd TE, Atkinson R, Wu MN, Zhou Y, Pennetta G, Bellen HJ (2002). Hrs regulates endosome membrane invagination and tyrosine kinase receptor signaling in Drosophila. Cell 108: 261-269.
  37. Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA (2002). Exclusion of PITX2 mutations as a major cause of CHARGE association. Am. J. Med. Genet. 111: 27-30.
  38. Matsuura T, Ranum LP, Volpini V, Pandolfo M, Sasaki H, Tashiro K, Watase K, Zoghbi HY, Ashizawa T (2002). Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology 58: 983.
  39. Matzuk MM, Burns KH, Viveiros MM, Eppig JJ (2002). Intercellular communication in the mammalian ovary: oocytes carry the conversation. Science 296: 2178-2180.
  40. Megarbane A, Bejjani BA, Shaffer LG, Jambart S, Souraty N, Kashork CD, Le Merrer M (2002). Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation. Am. J. Med. Genet. 108: 69-74.
  41. Morales J, Hiesinger PR, Schroeder AJ, Kume K, Verstreken P, Jackson FR, Nelson DL, Hassan BA (2002). Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron 34: 961-972.
  42. Pagnoni G, Zink CF, Montague PR, Berns GS (2002). Activity in human ventral striatum locked to errors of reward prediction. Nat. Neurosci. 5: 97-98.
  43. Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR (2002). Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs. Genome Res. 12: 729-738.
  44. Pennetta G, Hiesinger P, Fabian-Fine R, Meinertzhagen I, Bellen H (2002). Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner. Neuron 35: 291-306.
  45. Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB (2002). Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome. Hum. Mol. Genet. 11: 3237-3248.
  46. Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B (2002). A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development 129: 2293-2302.
  47. Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A (2002). Human chromosome 21 gene expression atlas in the mouse. Nature 420: 582-586.
  48. Schrader LA, Anderson AE, Mayne A, Pfaffinger PJ, Sweatt JD (2002). PKA modulation of Kv4.2-encoded A-type potassium channels requires formation of a supramolecular complex. J. Neurosci. 22: 10123-10133.
  49. Seto ES, Bellen HJ, Lloyd TE (2002). When cell biology meets development: endocytic regulation of signaling pathways. Genes Dev. 16: 1314-1336.
  50. Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY (2002). Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum. Mol. Genet. 11: 115-124.
  51. Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H (2002). Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35: 243-254.
  52. Shaw CJ, Bi W, Lupski JR (2002). Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am. J. Hum. Genet. 71: 1072-1081.
  53. Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG (2002). Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms. Am. J. Med. Genet. 112: 23-27.
  54. Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR (2002). Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat. Genet. 32: 267-272.
  55. Takeda S, Elefteriou F, Levasseur R, Liu X, Zhao L, Parker KL, Armstrong D, Ducy P, Karsenty G (2002). Leptin regulates bone formation via the sympathetic nervous system. Cell 111: 305-317.
  56. Tsai TF, Chen KS, Weber JS, Justice MJ, Beaudet AL (2002). Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice. Hum. Mol. Genet. 11: 1659-1668.
  57. Tyner SD, Venkatachalam S, Choi J, Jones S, Ghebranious N, Igelmann H, Lu X, Soron G, Cooper B, Brayton C, Hee Park S, Thompson T, Karsenty G, Bradley A, Donehower LA (2002). p53 mutant mice that display early ageing-associated phenotypes. Nature 415: 45-53.
  58. Van den Veyver IB, Zoghbi HY (2002). Genetic basis of Rett syndrome. Ment. Retard. Dev. Disabil. Res. Rev. 8: 82-86.
  59. Verstreken P, Kjaerulff O, Lloyd TE, Atkinson R, Zhou Y, Meinertzhagen IA, Bellen HJ (2002). Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release. Cell 109: 101-112.
  60. Vitelli F, Morishima M, Taddei I, Lindsay EA, Baldini A (2002). Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum. Mol. Genet. 11: 915-922.
  61. Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A (2002). A genetic link between Tbx1 and fibroblast growth factor signaling. Development 129: 4605-4611.
  62. Wang LL, Worley K, Gannavarapu A, Chintagumpala MM, Levy ML, Plon SE (2002). Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am. J. Hum. Genet. 71: 165-167.
  63. Wang B, Matsuoka S, Carpenter PB, Elledge SJ (2002). 53BP1, a mediator of the DNA damage checkpoint. Science 298: 1435-1438.
  64. Wang SW, Mu X, Bowers WJ, Kim DS, Plas DJ, Crair MC, Federoff HJ, Gan L, Klein WH (2002). Brn3b/Brn3c double knockout mice reveal an unsuspected role for Brn3c in retinal ganglion cell axon outgrowth. Development 129: 467-477.
  65. Watase K, Weeber EJ, Xu B, Antalffy B, Yuva-Paylor L, Hashimoto K, Kano M, Atkinson R, Sun Y, Armstrong DL, Sweatt JD, Orr HT, Paylor R, Zoghbi HY (2002). A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron 34: 905-919.
  66. Wang H, Elledge SJ (2002). Genetic and Physical Interactions Between DPB11 and DDC1 in the Yeast DNA Damage Response Pathway. Genetics 160: 1295-1304.
  67. Weeber EJ, Levy M, Sampson MJ, Anflous K, Armstrong DL, Brown SE, Sweatt JD, Craigen WJ (2002). The role of mitochondrial porins and the permeability transition pore in learning and synaptic plasticity. J. Biol. Chem. 277: 18891-18897.
  68. Weeber EJ, Sweatt JD (2002). Molecular neurobiology of human cognition. Neuron 33: 845-848.
  69. Whiteaker P, Peterson CG, Xu W, McIntosh JM, Paylor R, Beaudet AL, Collins AC, Marks MJ (2002). Involvement of the alpha3 subunit in central nicotinic binding populations. J. Neurosci. 22: 2522-2529.
  70. Wilson CA, Doms RW, Zheng H, Lee VM (2002). Presenilins are not required for A beta 42 production in the early secretory pathway. Nat. Neurosci. 5: 849-855.
  71. Wu YQ, Bejjani BA, Tsui LC, Mandel A, Osborne LR, Shaffer LG (2002). Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients. Am. J. Med. Genet. 109: 121-124.
  72. Yang D, Gereau RW IV (2002). Peripheral group II metabotropic glutamate receptors (mGluR2/3) regulate prostaglandin E2-mediated sensitization of capsaicin responses and thermal nociception. J. Neurosci. 22: 6388-6393.
  73. Xia X, Wang P, Sun X, Soriano S, Shum WK, Yamaguchi H, Trumbauer ME, Takashima A, Koo EH, Zheng H (2002). The aspartate-257 of presenilin 1 is indispensable for mouse development and production of beta-amyloid peptides through beta-catenin-independent mechanisms. Proc. Natl. Acad. Sci. USA 99: 8760-8765.
  74. Zhang Y, Mori M, Burgess DL, Noebels JL (2002). Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons. J. Neurosci. 22: 6362-6371.
  75. Zhao S, Chen Q, Hung FC, Overbeek PA (2002). BMP signaling is required for development of the ciliary body. Development 129: 4435-4442.
  76. Zou L, Cortez D, Elledge SJ (2002). Regulation of ATR substrate selection by Rad17-dependent loading of Rad9 complexes onto chromatin. Genes Dev. 16: 198-208.

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