Selected Research Publications
  • Shah M, Bhat V, Shetty J, Kumar A (2014): Whole exome sequencing identifies a novel splice site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. Molecular Vision (In press).
  • Pradhan SA, Rather MI, Tiwari A, Bhat VK, Kumar A (2014): Evidence that TSC2 acts as a transcription factor and binds to and represses the promoter of Epiregulin. Nucleic Acids Research (In press).
  • Rather MI, Swamy S, Gopinath KS, Kumar A (2014): Transcriptional Repression of Tumor Suppressor CDC73, Encoding an RNA Polymerase II Interactor, by Wilms Tumor 1 Protein (WT1) Promotes Cell Proliferation: Implications for cancer therapeutics. Journal of Biological Chemistry 289: 968-976.
  • Thejaswini V, Nagashri MN, Azeem MM, Swamy SS, Gopinath KS, Kumar A (2013): Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a. PLoS ONE 8: e54643.
  • Rather MI, Nagashri MN, Swamy SS, Gopinath KS, Kumar A (2013): Oncogenic microRNA-155 downregulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation: Implications for cancer therapeutics. Journal of Biological Chemistry 288: 608-618.
  • Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A (2011): Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. Clinical Genetics 80:532-540.
  • Pradhan S, Nagashri MN, Gopinath KS, Kumar A (2011): Expression profiling of CYP1B1 in oral squamous cell carcinoma: counterintuitive downregulation in tumors. PLoS ONE 6:e27914.
  • Singhmar P, Kumar A (2011): Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. PLoS ONE 6:e20397.
  • Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH (2010): A homozygous mutation in LTBP2 causes isolated microspherophakia, Human Genetics 128: 365-371.
  • Kumar A, Girimaji SC, Duvvari MR, Blanton SH (2009): Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. American Journal of Human Genetics 84:286-290.
  • Ali AM, Bajaj V, Gopinath KS, Kumar A (2009): Characterization of the human SLC22A18 gene promoter and its regulation by the transcription factor Sp1. Gene 429:37-43.
  • Bajaj V, Singhmar P, Kumar A (2008): Promoter characterization and regulation of expression of an imprinted gene SLC22A18AS. Gene 424:40-47.
  • Chakraborty S, Mohiyuddin SMA, Gopinath KS, Kumar A (2008): Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinoma. BMC Cancer 8:163.
  • Kumar A, Dorairaj SK, Prabhakaran VC, Prakash DR, Chakraborty S (2007): Identification of genes associated with tumorigenesis of meibomian cell carcinoma by microarray analysis. Genomics 90:559-566.
  • Chakraborty S, Khare S, Dorairaj SK, Prabhakara VC, Prakash DR, Kumar A (2007): Identification of genes associated with tumorigenesis of retinoblastoma by microarray analysis. Genomics 90:344-353.
  • Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, Bajaj V, Ramesh TK, Prakash DR, Shetty JS, Dorairaj SK (2007): Role of CYP1B1, MYOC, OPTN and OPTC genes in adult-onset primary open-angle glaucoma (POAG): predominance of CYP1B1 mutations in Indian patients. Molecular Vision 13:667-676.
  • Ali M, Girimaji SC, Markandaya M, Shukla AK, Saccidanand S, Kumar A (2005): Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. Acta Neurol Scand 111:54-63.
  • Kumar A, Blanton SH, Babu M, Markandaya M, Girimaji SC (2004): Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. Clinical Genetics 66:341-348.
  • Astbury C, Christ LA, Aughton DJ, Cassidy SB, Kumar A, Eichler EF, Schwartz S (2004): Detection of deletions in de novo "balanced" balanced chromosomal rearrangements: further evidence for their roles in phenotypic abnormalities. Genetics in Medicine 6:81-89.
  • Markandaya M, Ramesh TK, Selvaraju V, Dorairaj SK, Prakash R, Shetty J, Kumar A (2004): Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma. Ophthalmic Genetics 25:11-23.
  • Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH, Cassidy SB, Wolff DJ, Schwartz S (1998): Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements. Human Genetics 103:173-178.
  • Gilbert JR, Guy V, Kumar A, Wolpert C, Kandt R, Aylesworth A, Roses AD, Pericak-Vance MA (1998): Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. Neurogenetics 1:267-272.
  • Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR (1997): A novel splice site mutation (156+G?A) in the TSC2 gene. Human Mutation 9:64-65.
  • Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR (1995): Mutation analysis of the TSC2 gene in an African-American family. Human Molecular Genetics 4:2295-2298.
  • Gilbert JR, Speer MC, Stajich J, Clancy R, Lewis K, Qiu H, Kumar A, Yamaoka L, Stewart C, Rozear M, Roses AD, Pericak-Vance MA (1995): Exclusion mapping of chromosomal regions which cross-hybridize to FSHD1A associated markers in FSHD1B. Journal of Medical Genetics 32:770-773.
  • Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, Roses AD, Pericak-Vance MA, Gilbert JR (1995): A de novo frame-shift mutation in the tuberin gene. Human Molecular Genetics 4:1471-1472.
  • Kumar A, Rai KS (1992): Conservation of a highly repeated DNA family of Aedes albopictus among mosquito genomes (Diptera:Culicidae). Theoretical & Applied Genetics 83:557- 564.
  • Kumar A, Gupta JP (1992): Concentration of chromosomal aberrations on chromosome 3 of Drosophila nasuta. Heredity 69:263-267.
  • Kumar A, Gupta JP (1991): Heterosis and the lack of coadaptation in Drosophila nasuta. Heredity 67:275-79.
  • Kumar A, Rai KS (1990): Intraspecific variation in nuclear DNA content among world populations of a mosquito, Aedes albopictus (Skuse). Theoretical & Applied Genetics 79:748-742.
  • Kumar A, Gupta JP (1988): Linkage disequilibrium in laboratory populations of Drosophila nasuta. Theoretical & Applied Genetics 75:902-904.

Created by Indu K. Jaishwal, 2010