My Bibliography

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Ramesh V, Shaffer MM, Allaire JM, Shih VE, Gusella JF. Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase. DNA. 1986 Dec;5(6):493-501. doi: 10.1089/dna.1.1986.5.493. PubMed PMID: 3816496.

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Ramesh V, Eddy R, Bruns GA, Shih VE, Shows TB, Gusella JF. Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes. Hum Genet. 1987 Jun;76(2):121-6. doi: 10.1007/BF00284906. PubMed PMID: 2886418.

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Wu J, Ramesh V, Kidd JR, Castiglione CM, Myers S, Carson N, Anderson L, Gusella JF, Simpson NE, Kidd KK. The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10. Cytogenet Cell Genet. 1988;48(2):126-7. doi: 10.1159/000132606. PubMed PMID: 3197452.

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Ramesh V, Benoit LA, Crawford P, Harvey PT, Shows TB, Shih VE, Gusella JF. The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. Am J Hum Genet. 1988 Feb;42(2):365-72. PubMed PMID: 2893548; PubMed Central PMCID: PMC1715265.

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Ramesh V, McClatchey AI, Ramesh N, Benoit LA, Berson EL, Shih VE, Gusella JF. Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Proc Natl Acad Sci U S A. 1988 Jun;85(11):3777-80. doi: 10.1073/pnas.85.11.3777. PubMed PMID: 3375240; PubMed Central PMCID: PMC280301.

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McClatchey AI, Kaufman DL, Berson EL, Tobin AJ, Shih VE, Gusella JF, Ramesh V. Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy. Am J Hum Genet. 1990 Nov;47(5):790-4. PubMed PMID: 2220818; PubMed Central PMCID: PMC1683684.

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Kaufman DL, Ramesh V, McClatchey AI, Menkes JH, Tobin AJ. Detection of point mutations associated with genetic diseases by an exon scanning technique. Genomics. 1990 Dec;8(4):656-63. doi: 10.1016/0888-7543(90)90252-p. PubMed PMID: 2276738.

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Ramesh V, Gusella JF, Shih VE. Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. Mol Biol Med. 1991 Feb;8(1):81-93. Review. PubMed PMID: 1682785.

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Park JK, O'Donnell JJ, Shih VE, Gusella JF, Ramesh V. A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy. Hum Mutat. 1992;1(4):293-7. doi: 10.1002/humu.1380010405. PubMed PMID: 1301936.

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Ramesh V, Cheng SV, Kozak CA, Herron BJ, Shih VE, Taylor BA, Gusella JF. Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3. Mamm Genome. 1992;3(1):17-22. doi: 10.1007/BF00355836. PubMed PMID: 1349842.

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Park JK, Herron BJ, O'Donnell JJ, Shih VE, Ramesh V. Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy. Genomics. 1992 Oct;14(2):553-4. doi: 10.1016/s0888-7543(05)80271-x. PubMed PMID: 1427882.

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Ramesh N, Ramesh V, Gusella JF, Geha R. Chromosomal localization of the gene for human B-cell antigen CD40. Somat Cell Mol Genet. 1993 May;19(3):295-8. doi: 10.1007/BF01233077. PubMed PMID: 7687385.

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Ramesh N, Fuleihan R, Ramesh V, Lederman S, Yellin MJ, Sharma S, Chess L, Rosen FS, Geha RS. Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1). Int Immunol. 1993 Jul;5(7):769-73. doi: 10.1093/intimm/5.7.769. PubMed PMID: 8103673.

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Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet. 1993 Nov;2(11):1857-60. doi: 10.1093/hmg/2.11.1857. PubMed PMID: 7506602.

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MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J. DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. JAMA. 1993 Nov 17;270(19):2316-20. doi: 10.1001/jama.270.19.2316. PubMed PMID: 8230593.

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Rubio MP, Correa KM, Ramesh V, MacCollin MM, Jacoby LB, von Deimling A, Gusella JF, Louis DN. Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. Cancer Res. 1994 Jan 1;54(1):45-7. PubMed PMID: 8261460.

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Bianchi AB, Hara T, Ramesh V, Gao J, Klein-Szanto AJ, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet. 1994 Feb;6(2):185-92. doi: 10.1038/ng0294-185. PubMed PMID: 8162073.

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Jacoby LB, MacCollin M, Louis DN, Mohney T, Rubio MP, Pulaski K, Trofatter JA, Kley N, Seizinger B, Ramesh V. Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet. 1994 Mar;3(3):413-9. doi: 10.1093/hmg/3.3.413. PubMed PMID: 8012353.

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Haase VH, Trofatter JA, MacCollin M, Tarttelin E, Gusella JF, Ramesh V. The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms. Hum Mol Genet. 1994 Mar;3(3):407-11. doi: 10.1093/hmg/3.3.407. PubMed PMID: 8012352.

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MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R. Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet. 1994 Aug;55(2):314-20. PubMed PMID: 7913580; PubMed Central PMCID: PMC1918355.

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Tikoo A, Varga M, Ramesh V, Gusella J, Maruta H. An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). J Biol Chem. 1994 Sep 23;269(38):23387-90. PubMed PMID: 8089100.

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Ueki K, Rubio MP, Ramesh V, Correa KM, Rutter JL, von Deimling A, Buckler AJ, Gusella JF, Louis DN. MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p. Hum Mol Genet. 1994 Oct;3(10):1841-5. doi: 10.1093/hmg/3.10.1841. PubMed PMID: 7849711.

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von Deimling A, Kraus JA, Stangl AP, Wellenreuther R, Lenartz D, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD. Evidence for subarachnoid spread in the development of multiple meningiomas. Brain Pathol. 1995 Jan;5(1):11-4. doi: 10.1111/j.1750-3639.1995.tb00571.x. PubMed PMID: 7767486.

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Louis DN, Ramesh V, Gusella JF. Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors. Brain Pathol. 1995 Apr;5(2):163-72. doi: 10.1111/j.1750-3639.1995.tb00590.x. Review. PubMed PMID: 7670657.

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Wellenreuther R, Kraus JA, Lenartz D, Menon AG, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD, von Deimling A. Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am J Pathol. 1995 Apr;146(4):827-32. PubMed PMID: 7717450; PubMed Central PMCID: PMC1869258.

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Xu L, Sterner C, Maheshwar MM, Wilson PJ, Nellist M, Short PM, Haines JL, Sampson JR, Ramesh V. Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. Genomics. 1995 Jun 10;27(3):475-80. doi: 10.1006/geno.1995.1079. PubMed PMID: 7558029.

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Shih VE, Fringer JM, Mandell R, Kraus JP, Berry GT, Heidenreich RA, Korson MS, Levy HL, Ramesh V. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Am J Hum Genet. 1995 Jul;57(1):34-9. PubMed PMID: 7611293; PubMed Central PMCID: PMC1801250.

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Rustgi AK, Xu L, Pinney D, Sterner C, Beauchamp R, Schmidt S, Gusella JF, Ramesh V. Neurofibromatosis 2 gene in human colorectal cancer. Cancer Genet Cytogenet. 1995 Oct 1;84(1):24-6. doi: 10.1016/0165-4608(95)00059-3. PubMed PMID: 7497438.

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Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, Haines JL. Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet. 1996 Feb;5(2):249-56. doi: 10.1093/hmg/5.2.249. PubMed PMID: 8824881.

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Gusella JF, Ramesh V, MacCollin M, Jacoby LB. Neurofibromatosis 2: loss of merlin's protective spell. Curr Opin Genet Dev. 1996 Feb;6(1):87-92. doi: 10.1016/s0959-437x(96)90016-7. Review. PubMed PMID: 8791482.

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Long KR, Trofatter JA, Ramesh V, McCormick MK, Buckler AJ. Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL). Genomics. 1996 Aug 1;35(3):466-72. doi: 10.1006/geno.1996.0386. PubMed PMID: 8844170.

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Jacoby LB, MacCollin M, Barone R, Ramesh V, Gusella JF. Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer. 1996 Sep;17(1):45-55. doi: 10.1002/(SICI)1098-2264(199609)17:1<45::AID-GCC7>3.0.CO;2-2. PubMed PMID: 8889506.

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Gonzalez-Agosti C, Xu L, Pinney D, Beauchamp R, Hobbs W, Gusella J, Ramesh V. The merlin tumor suppressor localizes preferentially in membrane ruffles. Oncogene. 1996 Sep 19;13(6):1239-47. PubMed PMID: 8808698.

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McClatchey AI, Saotome I, Ramesh V, Gusella JF, Jacks T. The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. Genes Dev. 1997 May 15;11(10):1253-65. doi: 10.1101/gad.11.10.1253. PubMed PMID: 9171370.

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Stemmer-Rachamimov AO, Gonzalez-Agosti C, Xu L, Burwick JA, Beauchamp R, Pinney D, Louis DN, Ramesh V. Expression of NF2-encoded merlin and related ERM family proteins in the human central nervous system. J Neuropathol Exp Neurol. 1997 Jun;56(6):735-42. PubMed PMID: 9184664.

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Stemmer-Rachamimov AO, Xu L, Gonzalez-Agosti C, Burwick JA, Pinney D, Beauchamp R, Jacoby LB, Gusella JF, Ramesh V, Louis DN. Universal absence of merlin, but not other ERM family members, in schwannomas. Am J Pathol. 1997 Dec;151(6):1649-54. PubMed PMID: 9403715; PubMed Central PMCID: PMC1858373.

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Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims K, Ozelius L, Ramesh V. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Hum Mutat. 1998;12(6):408-16. doi: 10.1002/(SICI)1098-1004(1998)12:6<408::AID-HUMU7>3.0.CO;2-P. PubMed PMID: 9829910.

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Xu L, Gonzalez-Agosti C, Beauchamp R, Pinney D, Sterner C, Ramesh V. Analysis of molecular domains of epitope-tagged merlin isoforms in Cos-7 cells and primary rat Schwann cells. Exp Cell Res. 1998 Jan 10;238(1):231-40. doi: 10.1006/excr.1997.3843. PubMed PMID: 9457076.

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Murthy A, Gonzalez-Agosti C, Cordero E, Pinney D, Candia C, Solomon F, Gusella J, Ramesh V. NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. J Biol Chem. 1998 Jan 16;273(3):1273-6. doi: 10.1074/jbc.273.3.1273. PubMed PMID: 9430655.

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Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998 Apr;63(4):254-62. doi: 10.1006/mgme.1998.2684. PubMed PMID: 9635293.

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Stemmer-Rachamimov AO, Nielsen GP, Rosenberg AE, Louis DN, Jones D, Ramesh V, Gusella JF, Jacoby LB. The NF2 gene and merlin protein in human osteosarcomas. Neurogenetics. 1998 Dec;2(1):73-4. doi: 10.1007/s100480050054. PubMed PMID: 9933303.

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Stemmer-Rachamimov AO, Ino Y, Lim ZY, Jacoby LB, MacCollin M, Gusella JF, Ramesh V, Louis DN. Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2. J Neuropathol Exp Neurol. 1998 Dec;57(12):1164-7. doi: 10.1097/00005072-199812000-00008. PubMed PMID: 9862639.

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Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat. 1999;14(5):412-22. doi: 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K. PubMed PMID: 10533067.

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Gusella JF, Ramesh V, MacCollin M, Jacoby LB. Merlin: the neurofibromatosis 2 tumor suppressor. Biochim Biophys Acta. 1999 Mar 25;1423(2):M29-36. doi: 10.1016/s0304-419x(99)00005-0. Review. PubMed PMID: 10214350.

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Ikeda K, Saeki Y, Gonzalez-Agosti C, Ramesh V, Chiocca EA. Inhibition of NF2-negative and NF2-positive primary human meningioma cell proliferation by overexpression of merlin due to vector-mediated gene transfer. J Neurosurg. 1999 Jul;91(1):85-92. doi: 10.3171/jns.1999.91.1.0085. PubMed PMID: 10389885.

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Choy YS, Dabora SL, Hall F, Ramesh V, Niida Y, Franz D, Kasprzyk-Obara J, Reeve MP, Kwiatkowski DJ. Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann Hum Genet. 1999 Sep;63(Pt 5):383-91. doi: 10.1046/j.1469-1809.1999.6350383.x. PubMed PMID: 10735580.

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Castells A, Ino Y, Louis DN, Ramesh V, Gusella JF, Rustgi AK. Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer. Gastroenterology. 1999 Oct;117(4):831-7. doi: 10.1016/s0016-5085(99)70341-0. PubMed PMID: 10500065.

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Gonzalez-Agosti C, Wiederhold T, Herndon ME, Gusella J, Ramesh V. Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF. J Biol Chem. 1999 Nov 26;274(48):34438-42. doi: 10.1074/jbc.274.48.34438. PubMed PMID: 10567424.

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Murthy V, Haddad LA, Smith N, Pinney D, Tyszkowski R, Brown D, Ramesh V. Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney. Am J Physiol Renal Physiol. 2000 May;278(5):F737-46. doi: 10.1152/ajprenal.2000.278.5.F737. PubMed PMID: 10807585.

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Hewett J, Gonzalez-Agosti C, Slater D, Ziefer P, Li S, Bergeron D, Jacoby DJ, Ozelius LJ, Ramesh V, Breakefield XO. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum Mol Genet. 2000 May 22;9(9):1403-13. doi: 10.1093/hmg/9.9.1403. PubMed PMID: 10814722.