Arun Kumar

Summary

Country: India

Publications

  1. ncbi request reprint Identification of genes associated with tumorigenesis of retinoblastoma by microarray analysis
    Sanjukta Chakraborty
    Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore 560012, India
    Genomics 90:344-53. 2007
  2. ncbi request reprint Primary microcephaly: microcephalin and ASPM determine the size of the human brain
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    J Biosci 27:629-32. 2002
  3. doi request reprint A homozygous mutation in LTBP2 causes isolated microspherophakia
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India
    Hum Genet 128:365-71. 2010
  4. pmc Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India
    Am J Hum Genet 84:286-90. 2009
  5. ncbi request reprint Identification of genes associated with tumorigenesis of meibomian cell carcinoma by microarray analysis
    Arun Kumar
    Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore 560012, India
    Genomics 90:559-66. 2007
  6. ncbi request reprint Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations
    A Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, Karnataka, India
    Clin Genet 66:341-8. 2004
  7. doi request reprint Promoter characterization and regulation of expression of an imprinted gene SLC22A18AS
    Vineeta Bajaj
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India
    Gene 424:40-7. 2008
  8. ncbi request reprint Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A
    Arun Kumar
    Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore, India
    Mol Vis 10:910-6. 2004
  9. pmc Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma
    Thejaswini Venkatesh
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, Karnataka, India
    PLoS ONE 8:e54643. 2013
  10. pmc Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    Mol Vis 13:667-76. 2007

Collaborators

  • Sanjukta Chakraborty
  • Vineeta Bajaj
  • Susan H Blanton
  • Mohan B Raghupathy
  • Sanjib Sinha
  • Arun B Taly
  • William J Kimberling
  • Veeriah Selvaraju
  • Gomathy Sethuraman
  • Garima Shukla
  • Evan Eichler
  • Mohammad Iqbal Rather
  • Kodaganur S Gopinath
  • Mahmood Ali
  • Jitender Kumar
  • Shivananda S Swamy
  • Srinivas G Kodaganur
  • Thejaswini Venkatesh
  • Saketh Kapoor
  • Shalmali Pradhan
  • Pooja Singhmar
  • K S Gopinath
  • Abdullah Mahmood Ali
  • Priyanka Sharma
  • Shantanu Sengupta
  • Rekha S Dhar
  • Caroline Astbury
  • R S Khoiyangbam
  • Shivananda Swamy
  • Vishwanath Bhat
  • Sagar J Tontanahal
  • Mathighatta Nagaraj Nagashri
  • Mathighatta N Nagashri
  • Astha Sarda
  • S M Azeem Mohiyuddin
  • Mohd H Shah
  • Parayil Sankaran Bindu
  • Giriraj Ratan Chandak
  • Narayanappa Gayathri
  • S Vasantha Rani
  • M N Nagashri
  • Ashok Patowary
  • Gaurav Garg
  • Vani Brahmachari
  • Lakshmy Ramakrishnan
  • Ganesan Karthikeyan
  • Rakesh Tuli
  • Rajinder S Sangwan
  • Gulam N Qazi
  • Krishan A Suri
  • Naresh K Satti
  • Vijeshwar Verma
  • Swapan Kumar Das
  • Laurie A Christ
  • M C Jain
  • Suzanne B Cassidy
  • Navindu Gupta
  • Stuart Schwartz
  • Conjeevaram Venkatesh
  • Vinod Kumar
  • David J Aughton
  • Anitha Ragunath
  • Sushil Kumar
  • Satish C Girimaji

Detail Information

Publications33

  1. ncbi request reprint Identification of genes associated with tumorigenesis of retinoblastoma by microarray analysis
    Sanjukta Chakraborty
    Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore 560012, India
    Genomics 90:344-53. 2007
    ..Our semiquantitative RT-PCR analysis of the PIK3CA, AKT1, FRAP1, and RPS6KB1 genes in Rb samples supported this hypothesis. We suggest that known inhibitors of this pathway could be evaluated for the treatment of Rb...
  2. ncbi request reprint Primary microcephaly: microcephalin and ASPM determine the size of the human brain
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    J Biosci 27:629-32. 2002
  3. doi request reprint A homozygous mutation in LTBP2 causes isolated microspherophakia
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India
    Hum Genet 128:365-71. 2010
    ..Microspherophakia in the second family did not map to this locus, suggesting genetic heterogeneity. The present study suggests a role for LTBP2 in the structural stability of ciliary zonules, and growth and development of lens...
  4. pmc Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India
    Am J Hum Genet 84:286-90. 2009
    ..There was no evidence for a common haplotype. These results suggest that the centrosome and its associated structures are important in the control of neurogenesis in the developing human brain...
  5. ncbi request reprint Identification of genes associated with tumorigenesis of meibomian cell carcinoma by microarray analysis
    Arun Kumar
    Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore 560012, India
    Genomics 90:559-66. 2007
    ..Clusters of genes on chromosomes 1, 12, and 19 were dysregulated in MCC. The data presented here will facilitate the identification of specific markers and therapeutic targets for the treatment of MCC patients...
  6. ncbi request reprint Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations
    A Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, Karnataka, India
    Clin Genet 66:341-8. 2004
    ..Three novel normal population variants (i.e., c.7605G > A, c.4449G > A, and c.5961 A > G) were also detected in the ASPM gene...
  7. doi request reprint Promoter characterization and regulation of expression of an imprinted gene SLC22A18AS
    Vineeta Bajaj
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India
    Gene 424:40-7. 2008
    ..This gene was found to be translated with a cytoplasmic localization. The present data will help to understand the regulation of this gene and its role in tumorigenesis...
  8. ncbi request reprint Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A
    Arun Kumar
    Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore, India
    Mol Vis 10:910-6. 2004
    ..Usher syndrome (USH) is a rare autosomal recessive disorder characterized by deafness and retinitis pigmentosa. The purpose of this study was to determine the genetic cause of USH in a four generation Indian family...
  9. pmc Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma
    Thejaswini Venkatesh
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, Karnataka, India
    PLoS ONE 8:e54643. 2013
    ..Our study indicates for the first time that, in addition to its role in brain development, MCPH1 also functions as a tumor suppressor gene and is regulated by miR-27a...
  10. pmc Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    Mol Vis 13:667-76. 2007
    ..This study was designed to evaluate the involvement of the CYP1B1, MYOC, OPTN, and OPTC genes in the etiology of adult-onset primary open-angle glaucoma (POAG) found in 251 Indian patients...
  11. ncbi request reprint Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    Mol Vis 10:399-402. 2004
    ..To report the linkage analysis of retinitis pigmentosa (RP) in an Indian family...
  12. doi request reprint Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome
    Srinivas G Kodaganur
    Department of Pediatrics, Bangalore Medical College and Research Institute, Bangalore, India
    Clin Dysmorphol 22:54-8. 2013
    ..The lack of mutations in CHRNG has also been reported in several families, suggesting the possibility of at least one more gene for this syndrome...
  13. ncbi request reprint Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations
    Mahmood Ali
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    Ophthalmic Genet 25:247-55. 2004
    ..To carry out the mutation analysis of the KIF21A gene in a four-generation Indian family affected with CFEOM1 and to find out the molecular basis of the most frequent mutations c.2860C>T and c.2861G>A in exon 21 of the KIF21A gene...
  14. pmc Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation
    Pooja Singhmar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, Karnataka, India
    PLoS ONE 6:e20397. 2011
    ..We suggest that a defective chromosome segregation mechanism is responsible for the development of microcephaly in Angelman syndrome...
  15. pmc Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinoma
    Sanjukta Chakraborty
    Department of Molecular Reproduction Development and Genetics, Indian Institute of Science, Bangalore, India
    BMC Cancer 8:163. 2008
    ..However, not much is known about the involvement of this pathway in tumorigenesis of OSCC. We therefore investigated the role of the tumor suppressor genes, TSC1 and TSC2, and other members of this pathway in tumorigenesis of OSCC...
  16. pmc Expression profiling of CYP1B1 in oral squamous cell carcinoma: counterintuitive downregulation in tumors
    Shalmali Pradhan
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, Karnataka, India
    PLoS ONE 6:e27914. 2011
    ..These observations indicate that caution should be observed as this therapy may not be applicable universally to all cancers and also suggest the possibility of a prophylactic therapy for oral cancer...
  17. doi request reprint Characterization of the human SLC22A18 gene promoter and its regulation by the transcription factor Sp1
    Abdullah Mahmood Ali
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India
    Gene 429:37-43. 2009
    ..A COBRA-based assay has been developed to look for promoter methylation in different cancers. The present data will help to understand the regulation of this gene and its role in tumorigenesis...
  18. pmc Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation: implications for cancer therapeutics
    Mohammad Iqbal Rather
    Department of Molecular Reproduction, Indian Institute of Science, Bangalore 560012, India
    J Biol Chem 288:608-18. 2013
    ....
  19. pmc Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy
    Saketh Kapoor
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    Mol Vis 18:2022-32. 2012
    ..The purpose of this study was to identify the genetic causes of WS and DMD in an Indian family with two patients: one affected with WS and DMD, and another one affected with only WS...
  20. pmc Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5
    Vineeta Bajaj
    Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    BMC Genet 5:13. 2004
    ..A majority of them are clustered, including some on chromosome segment 11p15.5. We report here the imprinting status of the SLC22A1LS gene from the human chromosome segment 11p15.5..
  21. ncbi request reprint Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C)
    Arun Kumar
    Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore, India
    Mol Vis 10:445-9. 2004
    ..The purpose of the present study was to carry out genetic analysis of BPES in a five-generation Indian family...
  22. pmc Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
    Mol Vis 13:39-46. 2007
    ..The purpose of this study was to carry out genetic analysis of CHED2 in two Indian families...
  23. doi request reprint Transcriptional Repression of Tumor Suppressor CDC73, Encoding an RNA Polymerase II Interactor, by Wilms Tumor 1 Protein (WT1) Promotes Cell Proliferation: IMPLICATION FOR CANCER THERAPEUTICS
    Mohammad Iqbal Rather
    From the Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore 560012, India and
    J Biol Chem 289:968-76. 2014
    ..These observations indicated that WT1 functions as an oncogene by repressing the expression of CDC73 in OSCC. We suggest that targeting WT1 could be a therapeutic strategy for cancer, including OSCC. ..
  24. pmc Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome
    Veeriah Selvaraju
    Department of Molecular Reproduction Development and Genetics, Indian Institute of Science, Bangalore, India
    BMC Med Genet 4:5. 2003
    ..Several mutations have been reported in this gene in patients from several ethnic groups. We report here mutation analysis of the CTSC gene in three Indian families with PLS...
  25. ncbi request reprint Identification of a core promoter and a novel isoform of the human TSC1 gene transcript and structural comparison with mouse homolog
    Mahmood Ali
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560 012, India
    Gene 320:145-54. 2003
    ..It will also help to study the regulation of the TSC1 gene and its role in tumorigenesis...
  26. ncbi request reprint Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities
    Caroline Astbury
    Center for Human Genetics and Department of Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106 9959, USA
    Genet Med 6:81-9. 2004
    ..The purpose of this study was to test the hypothesis that deletions of varying sizes in de novo apparently balanced chromosome rearrangements are a significant cause of phenotypic abnormalities...
  27. ncbi request reprint Is urinary tract infection a predisposing factor for renal stone formation?
    Arun Kumar
    Department of Clinical Biochemistry, Nepal Medical College, Kathmandu, Nepal
    Nepal Med Coll J 5:102-4. 2003
    ..01) in males and (p < 0.001) in females. Males had higher incidence of RS than females with a prevalence of (p < 0.0001). The higher occurrence of RS was observed in age group between 21-40 years for both genders...
  28. doi request reprint Detection of altered global DNA methylation in coronary artery disease patients
    Priyanka Sharma
    Institute of Genomics and Integrative Biology, Delhi, India
    DNA Cell Biol 27:357-65. 2008
    ..The alteration in genomic DNA methylation associated with cardiovascular disease per se appears to be further accentuated by higher homocysteine levels...
  29. ncbi request reprint Cassia poisoning behind mysterious disease in children in Uttarakhand
    Arun Kumar
    Indian Pediatr 45:423. 2008
  30. ncbi request reprint Methane emission from fixed dome biogas plants in hilly and plain regions of northern India
    R S Khoiyangbam
    Division of Environmental Sciences, Indian Agricultural Research Institute, New Delhi 110 012
    Bioresour Technol 95:35-9. 2004
    ..1 gm(-2) d(-1)in the hilly areas. Annual contribution per plant to the global methane budget from a fixed dome biogas plant (Cap 2 m3) in plain region of northern India was 53.2 kg as compared 22.3 kg in hilly area...
  31. ncbi request reprint Phytochemical and genetic analysis in selected chemotypes of Withania somnifera
    Rekha S Dhar
    Regional Research Laboratory, RRL, Biotechnology Division, Canal Road, Jammu, Tawi 180001, India
    Phytochemistry 67:2269-76. 2006
    ..The present study demonstrates that AFLP can be successfully used to resolve the correlation of AFLP data with the presence of secondary metabolites...
  32. ncbi request reprint Detection of differential gene copy number using denaturing high performance liquid chromatography
    Jitender Kumar
    Institute of Genomics and Integrative Biology, Mall Road, Delhi 110007, India
    J Biochem Biophys Methods 64:226-34. 2005
    ..This method can potentially be used for diagnostic purpose where the need is to distinguish samples based on the differential gene copy numbers...
  33. ncbi request reprint Urine examination for calculogenic crystals in renal stone patients--a newer approach using refrigeration
    Arun Kumar
    Department of Clinical Biochemistry, Nepal Medical College, Kathmandu, Nepal
    Trop Doct 34:153-5. 2004