Research Topics
Genomes and GenesSpecies | Chitra KannabiranSummaryAffiliation: LV Prasad Eye Institute Country: India Publications
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Detail Information
Publications
Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosaKota Lalitha
Molecular Genetics, Prof. Brien Holden Eye Research Centre and Hyderabad Eye Research Foundation, L. V. Prasad Eye Institute, L. V. Prasad Marg, Banjara Hills, India
J Genet 81:59-63. 2002..This screening approach may be a rapid preliminary method to test known loci for possible cosegregation with disease...
Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screeningHardeep Pal Singh
Kallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre for Eye Research, Hyderabad Eye Research Foundation, Hyderabad, India
Invest Ophthalmol Vis Sci 50:4065-71. 2009..To identify the disease-causing genes in families with autosomal recessive RP (ARRP)...- Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosaChitra Kannabiran
Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, Hyderabad, Andhra Pradesh, India
Mol Vis 18:1165-74. 2012..To identify genes underlying autosomal recessive retinitis pigmentosa (ARRP) by homozygosity mapping... 
Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23Chitra Kannabiran
Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, LV Prasad Eye Institute, LV Prasad Marg, Banjara Hills, Hyderabad 500034, Andhra Pradesh, India
Hum Genet 131:717-23. 2012..There are no known RP genes in this interval, which contains >100 genes. This study provides evidence for a novel ADRP locus on chromosome 6q23...- Genetics of corneal endothelial dystrophiesChitra Kannabiran
Kallam Anji Reddy Molecular Genetics Laboratory, Prof Brien Holden Eye Research Centre, L V Prasad Eye Institute, Hyderabad, India
J Genet 88:487-94. 2009..Knowledge of genes involved and their function in the corneal endothelium can aid understanding the pathogenesis of the disorder as well as reveal pathways that are important for normal functioning of the endothelium... - TGFBI gene mutations in corneal dystrophiesChitra Kannabiran
Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Hyderabad, India
Hum Mutat 27:615-25. 2006..Mutations at either of these two hotspots result in specific types of LCD or GCD. The majority of identified mutations involve residues in the fourth fasciclin-like domain of TGFBIp... - Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophyChitra Kannabiran
Kallam Anji Reddy Molecular Genetics Laboratory and Ophthalmic Pathology Service, Professor Brien Holden Eye Research Centre, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad 500 034, India
Arch Ophthalmol 123:1127-33. 2005..To determine genotypes in 2 Indian families with severe granular corneal dystrophy, to document clinical and histopathologic features, and to attempt a genotype-phenotype correlation... - TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patientsS V V Kalyana Chakravarthi
Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Hyderabad, India
Invest Ophthalmol Vis Sci 46:121-5. 2005..To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or granular corneal dystrophy (GCD) and to look for genotype-phenotype correlations... - A missense mutation in LIM2 causes autosomal recessive congenital cataractSurya Prakash G Ponnam
Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, LV Prasad Eye Institute, Hyderabad, India
Mol Vis 14:1204-8. 2008..To identify mutations in the LIM2 gene in families with hereditary congenital or juvenile-onset cataract... - Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastomaVidya Latha Parsam
Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, LV Prasad Eye Institute, Hyderabad 500034, India
J Biosci 36:281-7. 2011..This study reveals novel effects of RB1 mutations on splicing and suggests the utility of RNA analysis as an adjunct to mutational screening of genomic DNA in retinoblastoma... - Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6Afia Sultana
Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, L V Prasad Eye Institute, Hyderabad, India
Mol Vis 15:319-25. 2009..To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with mutations in the carbohydrate 6-sulfotransferase (CHST6) gene... - Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophyHardeep Pal Singh
Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad 500 034, India
Am J Ophthalmol 141:906-13. 2006..To identify the genes causing autosomal recessive retinal dystrophy in Indian families and to characterize the associated phenotypes... - A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastomaVidya Latha Parsam
Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, L V Prasad Eye Institute, Hyderabad, India
J Genet 88:517-27. 2009..Using this method, the detection rates achieved in patients with bilateral Rb were 44/53 (83%) and with unilateral Rb, 5/21 (23.8%). This approach may be feasible for clinical genetic testing and counselling of patients... - Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in IndiaAfia Sultana
Kallam Anji Reddy Molecular Genetics Laboratory, Professor Brien Holden Eye Research Centre, Hyderabad 500 034, India
Mol Vis 9:730-4. 2003..We screened the CHST6 gene for mutations in Indian families with MCD, in order to determine the range of pathogenic mutations... - Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataractSurya Prakash G Ponnam
Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Road No 2, Banjara Hills, Hyderabad 500 034, India
J Med Genet 44:e85. 2007..GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract... - Phenotypic characterization of retinoblastoma for the presence of putative cancer stem-like cell markers by flow cytometryMurali M S Balla
Sudhakar and Sreekanth Ravi Stem Cell Biology Laboratory, Hyderabad Eye Research Foundation, L V Prasad Eye Institute, Hyderabad, India
Invest Ophthalmol Vis Sci 50:1506-14. 2009..This study was undertaken in an attempt to identify putative stem-like cells by characterizing different subpopulations of cells in retinoblastoma... - Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophyAfia Sultana
Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Hyderabad, India
Mol Vis 13:1327-32. 2007..We screened 42 unrelated families with CHED2 in order to establish the spectrum of mutations in SLC4A11 and to look for genotype-phenotype correlations... - Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutationsVelamakanni Saroj Kiran
Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Centre, L.V. Prasad Eye Institute, L.V. Prasad Marg, Banjara Hills, Hyderabad 500 034, India
Hum Mutat 22:339. 2003..Knowledge of the full range of mutations can aid in the design of screening tests for individuals at risk... - Mutational analysis of the RB1 gene in Indian patients with retinoblastomaM Ata-ur-Rasheed
L.V. Prasad Eye Institute, L.V. Prasad Marg, Banjara Hills, Hyderabad, Andhra Pradesh, India
Ophthalmic Genet 23:121-8. 2002..Mutations were detected in about one-third of the cases, suggesting that hemizygous deletions at the RB1 locus or mutations outside the coding regions of RB1 may be responsible for the disease in the remaining patients... - Hypomethylation of the DNMT3L promoter in ocular surface squamous neoplasiaGuru Prasad Manderwad
Ophthalmic Pathology Services, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, India
Arch Pathol Lab Med 134:1193-6. 2010..Because the pathobiology of ocular surface squamous neoplasia (OSSN) is similar to that of cervical tumors, we wanted to determine whether similar changes occur in the methylation pattern at the DNMT3L promoter in OSSN... - Posterior microphthalmos pigmentary retinopathy syndromeNiranjan Pehere
Jasti V Ramanamma Children s Eye Care Center, LV Prasad Eye Institute, Kallam Anji Campus, Banjara Hills, Hyderabad, India
Doc Ophthalmol 122:127-32. 2011..The genetics of this syndrome and variable phenotype is discussed. Importance of being aware of posterior microphthalmos and its posterior segment associations is highlighted... - Lack of association of high-risk human papillomavirus in ocular surface squamous neoplasia in IndiaGuru Prasad Manderwad
Ophthalmic Pathology Services, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, India
Arch Pathol Lab Med 133:1246-50. 2009..The genesis of OSSN is multifactorial, possibly including human papillomavirus (HPV) infection, the role of which is controversial... - Late occurrence of granular dystrophy in bilateral keratoconus: penetrating keratoplasty and long-term follow-upVarsha M Rathi
Cornea and Anterior Segment Services, LV Prasad Eye Institute, Hyderabad, Andhra Pradesh, India
Indian J Ophthalmol 59:398-400. 2011..Mutational analysis of the TGFBI gene in patient's DNA revealed a heterozygous mutation corresponding to a change in Arg555Trp in the keratoepithelin protein. Granular dystrophy recurred after 8 years in the RE... - Share, learn and get together: knowledge and information interactions at the XLV International Symposium of ISCEV - Hyderabad, India, 25-29 August 2007Subhadra Jalali
Smt Kanuri Santhamma Retina Vitreous Centre, L.V. Prasad Eye Institute, Hyderabad, India
Doc Ophthalmol 115:1-2. 2007 - Reliability of nested polymerase chain reaction in the diagnosis of bacterial endophthalmitisSavitri Sharma
Jhaveri Microbiology Centre, Hyderabad Eye Research Foundation, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad, India
Am J Ophthalmol 133:142-4. 2002.... - Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11Xiaodong Jiao
J Med Genet 44:64-8. 2007..1 was obtained with D20S117 at theta = 0. Sequencing of SLC4A11 showed homozygotic mutations in affected members from 12 of 16 families. CONCLUSION: These results confirm that mutations in the SLC4A11 gene cause autosomal recessive CHED... - Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degenerationJames S Friedman
Department of Ophthalmology, W K Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA
Am J Hum Genet 79:1059-70. 2006..We suggest that the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing...