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Genomes and GenesSpecies | B S ShastrySummaryAffiliation: Oakland University Country: USA Publications
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Publications
Pharmacogenomics in ophthalmologyBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Discov Med 12:159-67. 2011..In this article an attempt has been made to summarize some of the recent small-scale pharmacogenetic studies on two major eye disorders, age-related macular degeneration (AMD) and glaucoma...- Molecular genetics of attention-deficit hyperactivity disorder (ADHD): an updateBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Neurochem Int 44:469-74. 2004..This may lead to an effective new treatment strategy... - Evaluation of the ABCR and glutathione peroxidase-3 genes in familial and sporadic cases of exudative age-related macular degenerationBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Int J Mol Med 14:753-7. 2004..However, it may be associated with other additive factors as might be expected for a complex disorder... - Bipolar disorder: an updateBarkur S Shastry
Department of Biological Sciences, Oakland University, 316 DHE, Rochester, MI 48309, USA
Neurochem Int 46:273-9. 2005..Identification of risk genes in the future may provide a better understanding of the nature of pathogenesis that may lead to a better therapeutic target... - Genetic diversity and new therapeutic conceptsBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
J Hum Genet 50:321-8. 2005..Despite these limitations, translation of pharmacogenomic data into clinical practice would certainly provide better opportunities to increase the safety and efficacy of medicine in the future... - Pharmacogenetics and the concept of individualized medicineB S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Pharmacogenomics J 6:16-21. 2006..If it becomes a reality, it delivers benefits to improve public health and allow genetically subgroup diseases thereby avoiding adverse drug reactions (by knowing in advance who should be treated with what drug and how)... - Further support for the common variants in complement factor H (Y402H) and LOC387715 (A69S) genes as major risk factors for the exudative age-related macular degenerationBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309 4401, USA
Ophthalmologica 220:291-5. 2006..These results further support the notion that CFH and LOC387715 genes are the major risk factors for ARMD... - Developmental dyslexia: an updateBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
J Hum Genet 52:104-9. 2007..Interestingly, in spite of genetic heterogeneity, the pathology appears to involve common phonological coding deficits. The condition can be managed by a highly structured educational training exercise... - Lack of association of the VEGF gene promoter (-634 G-->C and -460 C-->T) polymorphism and the risk of advanced retinopathy of prematurityBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI, USA
Graefes Arch Clin Exp Ophthalmol 245:741-3. 2007..In order to evaluate its general applicability as a screening procedure in clinics and to replicate the above result, we have undertaken the following study... - Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-related macular degeneration and heterozygous CFH variant (Y402H)Barkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI, USA
J Hum Genet 52:384-7. 2007..Further studies on these and other susceptibility genes may provide clues on variable phenotypes, new preventive strategies and treatment options for AMD... - SNPs in disease gene mapping, medicinal drug development and evolutionBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI, USA
J Hum Genet 52:871-80. 2007..Therefore, it is possible that disease-associated SNPs (or pathology) and evolution can be related to one another... - Assessment of the contribution of insulin-like growth factor I receptor 3174 G-->A polymorphism to the progression of advanced retinopathy of prematurityB S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Eur J Ophthalmol 17:950-3. 2007.... - Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosaBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Int J Mol Med 21:715-20. 2008.... 
Genetic diversity and medicinal drug response in eye careBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI, USA
Graefes Arch Clin Exp Ophthalmol 248:1057-61. 2010..Much has been published in the literature in recent years about the potential of pharmacogenetic testing and individualized medicine. The development of personalized medicine is truly an exciting area of research...
Genetic susceptibility to advanced retinopathy of prematurity (ROP)Barkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI, USA
J Biomed Sci 17:69. 2010..Future studies involving genomics, bioinformatics and proteomics may provide a better understanding of the pathophysiology and management of ROP...- Common polymorphisms of the CFH, LOC 387715/ARMS2 and HTRA1 genes may not influence the intra-familial variability of X-linked juvenile retinoschisisBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Mol Med Report 3:469-71. 2010.... - Copy number variation and susceptibility to human disorders (Review)Barkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI, USA
Mol Med Report 2:143-7. 2009.... - Overproduction and partial purification of the Norrie disease gene product, norrin, from a recombinant baculovirusBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Biochem Biophys Res Commun 312:229-34. 2003..The protein was partially purified by the process of immobilized metal affinity chromatography and the use of ion exchange chromatography.. - Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathyB S Shastry
Department of Biological Sciences, Oakland University Rochester, MI 48309, USA
Eur J Hum Genet 12:79-82. 2004.... - Molecular genetics of autism spectrum disordersBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
J Hum Genet 48:495-501. 2003..These may alleviate some behavioral problems. The identification of autism genes, an understanding of the neurobiology of the condition, and additional clinical studies may help to develop pharmacological interventions in the future... - Neurodegenerative disorders of protein aggregationBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Neurochem Int 43:1-7. 2003.... - Persistent hyperplastic primary vitreous: congenital malformation of the eyeBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Clin Experiment Ophthalmol 37:884-90. 2009..Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management... - Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral functionM Hiraoka
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
J Hum Genet 46:241-3. 2001..Further identification of the X-linked genes may facilitate the elucidation of the molecular basis of the disorder in the family analyzed... - Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathyB S Shastry
Eye Research Institute, Oakland University, Rochester, Michigan 48309 4401, USA
Hum Mutat 9:396-401. 1997..It also demonstrates that it may be beneficial for clinical diagnosis to screen for mutations in the Norrie disease gene in sporadic FEVR cases... - Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisisB S Shastry
Eye Research Institute, Oakland University, Rochester, Michigan 48309 4410, USA
Biochem Biophys Res Commun 256:317-9. 1999..These mutations, which are transmitted through three generations, cosegregated with the disease, and are not found in the unaffected family members and 150 normal X-chromosomes, are likely to be pathogenic in these families... - Factor V Leiden mutation (R506Q) and the risk of advanced retinopathy of prematuritySarah Kleinberg
Department of Biological Sciences, Oakland University, Rochester, MI 48309 4401, USA
Int J Mol Med 12:469-72. 2003..4%). Therefore, statistically factor V mutation on its own is not a major risk factor for the above two disorders. However, it may be associated with other additive factors as might be expected for a complex genetic trait... - Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurityM Hiraoka
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
J Hum Genet 46:178-81. 2001..Although the ND gene is not frequently involved in advanced ROP, the present large-scale study further supports the hypothesis that genetic influences may play an important role in the development of severe ROP in some premature infants... - X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?M Hiraoka
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
J Hum Genet 46:53-6. 2001..If this proves to be a widespread problem, it will complicate the strategies used to identify the genes involved in diseases and to develop methods for intervention... - Molecular and cell biological aspects of Alzheimer diseaseB S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
J Hum Genet 46:609-18. 2001..Although we are still lacking the molecular basis and order of events involved in the disease process, the future for AD research, as well as for AD patients, is more promising than ever before... - SNPs: impact on gene function and phenotypeBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI, USA
Methods Mol Biol 578:3-22. 2009.... - Molecular genetics of Rett syndromeB S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Neurochem Int 38:503-8. 2001..Since the encoded protein was previously shown to be a global transcriptional repressor, undesired expression of yet unidentified genes that are normally repressed is considered to be pathogenic in Rett syndrome... - Parkinson disease: etiology, pathogenesis and future of gene therapyB S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Neurosci Res 41:5-12. 2001.... - SNP alleles in human disease and evolutionBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
J Hum Genet 47:561-6. 2002..Nevertheless, these variants may provide a starting point for further inquiry... - SNPs and haplotypes: genetic markers for disease and drug response (review)Barkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Int J Mol Med 11:379-82. 2003..This newly developed toxicogenomic or pharmacogenomic field is rapidly advancing and may change the practice of medicine in the future, providing personalized medicine for each individual... - Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathyB S Shastry
Eye Research Institute, Oakland University, Rochester, Michigan 48309, USA
Genomics 27:341-4. 1995..Additionally, a polymorphic missense mutation (H127R) was detected in a severely affected patient... - Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)B S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
J Hum Genet 45:323-6. 2000..These maps could be invaluable tools in the identification of genes in the near future... - Therapeutic options for Parkinson's diseaseBarkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, Michigan 48309, USA
Drugs Today (Barc) 38:445-51. 2002..This understanding may lead to predicting drug response and ultimately to developing preventive medicine at the individual level in the future... - Schizophrenia: a genetic perspective (review)Barkur S Shastry
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA
Int J Mol Med 9:207-12. 2002..Meanwhile, treatment with newly developed anti-psychotic drugs combined with educational and cognitive rehabilitation procedure may help the patients to cope with the illness... - Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathyJohane Robitaille
Department of Ophthalmology, Izaak Walton Killam IWK Health Centre, Dalhousie University, Halifax, Nova Scotia B3H 2Y9, Canada
Nat Genet 32:326-30. 2002..In one of the mutants, altered subcellular trafficking led to defective signaling. These findings support a function for frizzled-4 in retinal angiogenesis and establish the first association between a Wnt receptor and human disease... - Ophthalmic genetics: complexity in paediatric vitreoretinopathiesBarkur S Shastry
Clin Experiment Ophthalmol 34:633-4. 2006 - Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5Xiaodong Jiao
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 75:878-84. 2004..Sequencing of LRP5 shows, in all three families, homozygous mutations R570Q, R752G, and E1367K. This suggests that mutations in this gene can cause autosomal recessive as well as autosomal dominant FEVR...