Research Topics
Genomes and Genes
| Arun KumarSummaryCountry: India Publications
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Detail Information
Publications
Identification of genes associated with tumorigenesis of retinoblastoma by microarray analysisSanjukta 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...- Primary microcephaly: microcephalin and ASPM determine the size of the human brainArun Kumar
Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
J Biosci 27:629-32. 2002 - Genetic analysis of primary microcephaly in Indian families: novel ASPM mutationsA 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... 
A homozygous mutation in LTBP2 causes isolated microspherophakiaArun 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...
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephalyArun 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...- Identification of genes associated with tumorigenesis of meibomian cell carcinoma by microarray analysisArun 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... - Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7AArun 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... - Promoter characterization and regulation of expression of an imprinted gene SLC22A18ASVineeta 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... - Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian familyArun 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... - Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patientsArun 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... - Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregationPooja 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... - Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutationsMahmood 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... - Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinomaSanjukta 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... - Expression profiling of CYP1B1 in oral squamous cell carcinoma: counterintuitive downregulation in tumorsShalmali 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... - Characterization of the human SLC22A18 gene promoter and its regulation by the transcription factor Sp1Abdullah 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... - Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophySaketh 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... 
Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5Vineeta 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..- Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11Arun 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... - 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... - Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndromeVeeriah 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... - Identification of a core promoter and a novel isoform of the human TSC1 gene transcript and structural comparison with mouse homologMahmood 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... - Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalitiesCaroline 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.... - 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... - Methane emission from fixed dome biogas plants in hilly and plain regions of northern IndiaR 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... - Detection of altered global DNA methylation in coronary artery disease patientsPriyanka 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... - Cassia poisoning behind mysterious disease in children in UttarakhandArun Kumar
Indian Pediatr 45:423. 2008 - Urine examination for calculogenic crystals in renal stone patients--a newer approach using refrigerationArun Kumar
Department of Clinical Biochemistry, Nepal Medical College, Kathmandu, Nepal
Trop Doct 34:153-5. 2004 - Detection of differential gene copy number using denaturing high performance liquid chromatographyJitender 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... - Phytochemical and genetic analysis in selected chemotypes of Withania somniferaRekha 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...