Experts and Doctors on mutation in Hyderabad, Telangana, India

Summary

Locale: Hyderabad, Telangana, India
Topic: mutation

Top Publications

  1. V G A, S R, K M M, K T, S A, S N, et al. Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations. Clin Chim Acta. 2016;453:123-30 pubmed publisher
    ..In-silico analysis of mutations observed in androgen receptor gene of androgen insensitivity syndrome predicted that the substitution at Y572C and V867M could probably disrupt the protein structure and function. ..
  2. Vendra V, Balasubramanian D. Structural and aggregation behavior of the human ?D-crystallin mutant E107A, associated with congenital nuclear cataract. Mol Vis. 2010;16:2822-8 pubmed
  3. Bairwa G, Kaur R. A novel role for a glycosylphosphatidylinositol-anchored aspartyl protease, CgYps1, in the regulation of pH homeostasis in Candida glabrata. Mol Microbiol. 2011;79:900-13 pubmed publisher
    ..Lastly, we show that C. glabrata responds to acidic environment by reducing total ?-glucan levels in the cell wall in a CgYps1-dependent manner. ..
  4. Guruprasad L, Tanneeru K, Guruprasad K. Structural rationale for the recognition of arginine at P? in PEXEL motif containing proteins of Plasmodium falciparum by plasmepsin V. Protein Pept Lett. 2011;18:634-41 pubmed
    ..Our analysis correlates the structure-function relationship of plasmepsin V. ..
  5. Borah S, Shivarathri R, Kaur R. The Rho1 GTPase-activating protein CgBem2 is required for survival of azole stress in Candida glabrata. J Biol Chem. 2011;286:34311-24 pubmed publisher
    ..Last, we report that Hsp90 inhibitor geldanamycin renders fluconazole a fungicidal drug in C. glabrata. ..
  6. Reddy A, Panicker S, Mandal A, Hasnain S, Balasubramanian D. Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. Invest Ophthalmol Vis Sci. 2003;44:4200-3 pubmed
    ..The approach also offers a method for rapid screening of potential carriers and affected individuals. ..
  7. Khattri A, Reddy V, Pandey R, Sudhakar D, Gupta N, Chakravarty B, et al. Novel mutations in calcium/calmodulin-dependent protein kinase IV (CAMK4) gene in infertile men. Int J Androl. 2012;35:810-8 pubmed publisher
    ..Our study suggests that the mutations in CAMK4 may lead to abnormal semen parameters. ..
  8. Mahurkar S, Bhaskar S, Reddy D, Prakash S, Rao G, Singh S, et al. TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSB mutations in predicting diabetes. BMC Med Genet. 2008;9:80 pubmed publisher
    ..Our data also suggests that co-existence of TCF7L2 variants and the SPINK1 and CTSB mutations, that predict susceptibility to exocrine damage, may interact to determine the onset of diabetes in TCP patients. ..
  9. Vasanthi D, Nagabhushan A, Matharu N, Mishra R. A functionally conserved Polycomb response element from mouse HoxD complex responds to heterochromatin factors. Sci Rep. 2013;3:3011 pubmed publisher

More Information

Publications93

  1. Rajkumari K, Kusano S, Ishihama A, Mizuno T, Gowrishankar J. Effects of H-NS and potassium glutamate on sigmaS- and sigma70-directed transcription in vitro from osmotically regulated P1 and P2 promoters of proU in Escherichia coli. J Bacteriol. 1996;178:4176-81 pubmed
  2. Reddy R, Mutyala R, Aparoy P, Reddanna P, Reddy M. An analysis of hydrophobic interactions of thymidylate synthase with methotrexate: free energy calculations involving mutant and native structures bound to methotrexate. J Mol Model. 2010;16:203-9 pubmed publisher
    ..Binding preference to wild type residues can be rationalized in terms of their better hydrophobic contacts with the phenyl ring of methotrexate. ..
  3. Jayashree P, Gowrishankar J. A new phenotype for sbcB mutations in Escherichia coli: RecA-dependent increase in plasmid-borne gene expression. Mol Gen Genet. 1995;246:648-56 pubmed
    ..The increased-expression phenotype was also correlated with increased recovery of plasmid DNA from the cpeA/sbcB mutant strains, but there was no evidence for the occurrence of linear plasmid multimers in these strains. ..
  4. Regha K, Satapathy A, Ray M. RecD plays an essential function during growth at low temperature in the antarctic bacterium Pseudomonas syringae Lz4W. Genetics. 2005;170:1473-84 pubmed
    ..Additional results suggest that a truncated recD encoding the N-terminal segment of (1-576) amino acids is sufficient to support growth of P. syringae at low temperature. ..
  5. Muralidhar D, Jobby M, Krishnan K, Annapurna V, Chary K, Jeromin A, et al. Equilibrium unfolding of neuronal calcium sensor-1: N-terminal myristoylation influences unfolding and reduces protein stiffening in the presence of calcium. J Biol Chem. 2005;280:15569-78 pubmed
    ..These results suggest that the role of myristoylation in unfolding/refolding of the protein is largely dependent on the presence of calcium. ..
  6. Bammidi L, Neerukonda G, Murthy S, Kanapuram R. p16 gene alterations in human ovarian cancers: comparison between tissue and blood samples. Int J Gynecol Cancer. 2012;22:553-60 pubmed publisher
    ..This study demonstrates that the p16 gene plays a role in the progression of human ovarian cancers and the blood DNA methylation of p16 gene promoter region is a weak predictor of tumor tissue methylation status. ..
  7. Sultana A, Sridhar M, Jagannathan A, Balasubramanian D, Kannabiran C, Klintworth G. Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. Mol Vis. 2003;9:730-4 pubmed
    ..Seventeen of these mutations are novel. These data highlight the allelic heterogeneity of macular corneal dystrophy in Indian patients. ..
  8. Aggarwal S. Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century. Gene. 2013;528:41-5 pubmed publisher
    ..However, all these SKDs with increased bone density share their molecular pathogenesis as majority arise due to mutations in the genes governing osteoclast formation and function. ..
  9. SaiSree L, Reddy M, Gowrishankar J. lon incompatibility associated with mutations causing SOS induction: null uvrD alleles induce an SOS response in Escherichia coli. J Bacteriol. 2000;182:3151-7 pubmed
  10. Iyer S, Ramakrishnan M, Kasbekar D. Neurospora crassa fmf-1 encodes the homologue of the Schizosaccharomyces pombe Ste11p regulator of sexual development. J Genet. 2009;88:33-9 pubmed
  11. Bhavani G, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao A, et al. Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. Am J Med Genet A. 2016;170A:410-417 pubmed publisher
    ..We characterize the clinical, radiographic and molecular findings in all individuals with molecularly proven MONA from the present cohort and previous reports, and provide a comprehensive review of the MMP2 related disorders. ..
  12. Rajini B, Graham C, Wistow G, Sharma Y. Stability, homodimerization, and calcium-binding properties of a single, variant betagamma-crystallin domain of the protein absent in melanoma 1 (AIM1). Biochemistry. 2003;42:4552-9 pubmed
    ..These results show that, despite the sequence variation, AIM1-g1 folds such as a betagamma domain, binds calcium and undergoes dimerization. ..
  13. Bashyam M, Chaudhary A, Reddy E, Reddy V, Acharya V, Nagarajaram H, et al. A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India. Br J Dermatol. 2012;166:819-29 pubmed publisher
    ..This is the first report of a founder EDAR mutation and of a significantly high frequency of autosomal recessive HED. ..
  14. Suman S, Mishra A, Ravindra D, Yeramala L, Sharma Y. Evolutionary remodeling of ??-crystallins for domain stability at cost of Ca2+ binding. J Biol Chem. 2011;286:43891-901 pubmed publisher
    ..Thus, this motif acts as a "central tuning knob" for innate as well as Ca2+-induced gain in stability, incorporating a stability gradient across ??-crystallin members critical for their specialized functions...
  15. Sultana A, Garg P, Ramamurthy B, Vemuganti G, Kannabiran C. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis. 2007;13:1327-32 pubmed
    ..We screened 42 unrelated families with CHED2 in order to establish the spectrum of mutations in SLC4A11 and to look for genotype-phenotype correlations...
  16. Suman G, Jamil K, Suseela K, Vamsy M. Novel mutations of CYP3A4 in fine needle aspiration cytology samples of breast cancer patients and its clinical correlations. Cancer Biomark. 2009;5:33-40 pubmed publisher
    ..This is the first report of these two novel point mutations in CYP3A4 gene. These mutations in the gene in respective patients were found to relate to drug response in invasive ductal carcinomas of breast cancer. ..
  17. Parsam V, Ali M, Honavar S, Vemuganti G, Kannabiran C. Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma. J Biosci. 2011;36:281-7 pubmed
    ..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. ..
  18. Rath P, Chidambaram S, Rath P, Dikshit B, Naik S, Sahoo P, et al. A study on the impact of CYP2C19 genotype and platelet reactivity assay on patients undergoing PCI. Indian Heart J. 2015;67:114-21 pubmed publisher
    ..Patients at high risk of bleeding were also identified by the PRA. ..
  19. Subramoni S, Sonti R. Growth deficiency of a Xanthomonas oryzae pv. oryzae fur mutant in rice leaves is rescued by ascorbic acid supplementation. Mol Plant Microbe Interact. 2005;18:644-51 pubmed publisher
    ..The virulence deficiency of the X. oryzae pv. oryzae fur mutant is proposed to be due, at least in part, to an impaired ability to cope with the oxidative stress conditions that are encountered during infection...
  20. Rao K, Kaur I, Parikh R, Mandal A, Chandrasekhar G, Thomas R, et al. Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an indian population. Invest Ophthalmol Vis Sci. 2010;51:4937-41 pubmed publisher
    ..533 and 0.133, respectively) and PACG (P = 0.223 and 0.394, respectively) in the Indian cohort. The present data indicate a lack of involvement of variations in NTF4, VAV2, and VAV3 with glaucoma pathogenesis in an Indian population. ..
  21. Movva S, Alluri R, Venkatasubramanian S, Vedicherla B, Vattam K, Ahuja Y, et al. Association of methylene tetrahydrofolate reductase C677T genotype with type 2 diabetes mellitus patients with and without renal complications. Genet Test Mol Biomarkers. 2011;15:257-61 pubmed publisher
  22. Mandal A, Hornby S, Jones R. Congenital hydrocephalus associated with congenital glaucoma and natal teeth. Indian J Ophthalmol. 2002;50:322-3 pubmed
    ..The clinical findings support a diagnosis of Walker-Warburg syndrome. The forkhead 7 transcription factor gene is proposed as a candidate gene for this syndrome...
  23. Dixit H, Rao L, Padmalatha V, Kanakavalli M, Deenadayal M, Gupta N, et al. Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. Menopause. 2005;12:749-54 pubmed
    ..The presence of the c.447>T mutation might indicate a higher risk for POF. Haplotype C-T was significantly associated with ovarian failure, whereas the C-C haplotype was representative of the control group. ..
  24. Pani B, Banerjee S, Chalissery J, Muralimohan A, Abishek M, Loganathan R, et al. Mechanism of inhibition of Rho-dependent transcription termination by bacteriophage P4 protein Psu. J Biol Chem. 2006;281:26491-500 pubmed
    ..We propose that Psu inhibits Rho-dependent termination by slowing down the translocation of Rho along the RNA because of its slow ATPase activity. ..
  25. Marada A, Allu P, Murari A, Pullareddy B, Tammineni P, Thiriveedi V, et al. Mge1, a nucleotide exchange factor of Hsp70, acts as an oxidative sensor to regulate mitochondrial Hsp70 function. Mol Biol Cell. 2013;24:692-703 pubmed publisher
    ..This novel oxidative sensor capability of yeast Mge1 might represent an evolutionarily conserved function, given that human recombinant dimeric Mge1 is also sensitive to H2O2...
  26. Sultana A, Klintworth G, Thonar E, Vemuganti G, Kannabiran C. Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. Mol Vis. 2009;15:319-25 pubmed
    ..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...
  27. Validandi V, Reddy V, Srinivas P, Mueller N, Bhagyalaxmi S, Padma T, et al. Temperature-dependent structural and functional properties of a mutant (F71L) ?A-crystallin: molecular basis for early onset of age-related cataract. FEBS Lett. 2011;585:3884-9 pubmed publisher
    ..Therefore, F71L may lead to earlier onset of cataract due to interaction with several environmental factors (e.g., temperature in this case) along with the aging process. ..
  28. Mishra A, Suman S, Srivastava S, Sankaranarayanan R, Sharma Y. Decoding the molecular design principles underlying Ca(2+) binding to ??-crystallin motifs. J Mol Biol. 2012;415:75-91 pubmed publisher
    ..Decoding such design schemes would aid in our understanding of the functional themes underlying differential Ca(2)(+) binding and in predicting these in emerging sequence information...
  29. Das A, Rangaraj N, Sonti R. Multiple adhesin-like functions of Xanthomonas oryzae pv. oryzae are involved in promoting leaf attachment, entry, and virulence on rice. Mol Plant Microbe Interact. 2009;22:73-85 pubmed publisher
    ..Overall, these results indicate that multiple adhesin-like functions are involved in promoting virulence of X. oryzae pv. oryzae, with preferential involvement of individual functions at different stages of the disease process. ..
  30. Uttarilli A, Ranganath P, Jain S, Prasad C, Sinha A, Verma I, et al. Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. Indian J Med Res. 2015;142:414-25 pubmed publisher
    ..Nine novel mutations were identified in MPS VI cases from India in the present study. The study also provides some insights into the genotype-phenotype association in MPS VI. ..
  31. Mahurkar S, Idris M, Reddy D, Bhaskar S, Rao G, Thomas V, et al. Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis. Gut. 2006;55:1270-5 pubmed
    ..As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to play a modifier role, these variants may be critical as a trigger for cationic trypsinogen activation. ..
  32. Gurudatta B, Shashidhara L, Parnaik V. Lamin C and chromatin organization in Drosophila. J Genet. 2010;89:37-49 pubmed
    ..Our results suggest that Drosophila lamC has a tissue-specific role during development and is required for chromatin organization. ..
  33. Kharshiing E, Kumar G, Ditengou F, Li X, Palme K, Sharma R. The polycotyledon (pct1-2) mutant of tomato shows enhanced accumulation of PIN1 auxin transport facilitator protein. Plant Biol (Stuttg). 2010;12:224-8 pubmed publisher
    ..The mutant also displayed an increase in PIN1 transcript levels in these organs. Our results indicate that over-accumulation of PIN1 protein is likely related to increased polar transport of auxin in the pct1-2 mutant...
  34. Chalissery J, Banerjee S, Bandey I, Sen R. Transcription termination defective mutants of Rho: role of different functions of Rho in releasing RNA from the elongation complex. J Mol Biol. 2007;371:855-72 pubmed
    ..The rate of ATP hydrolysis regulates the processivity of translocation along the RNA and is directly correlated with the efficiency of RNA release. NusG improves the speed of RNA release and is not involved in any other step. ..
  35. Chatterjee S, Sonti R. rpfF mutants of Xanthomonas oryzae pv. oryzae are deficient for virulence and growth under low iron conditions. Mol Plant Microbe Interact. 2002;15:463-71 pubmed publisher
    ..oryzae pv. oryzae and that an inability to cope with the conditions of low iron availability in the host may be the reason for the virulence deficiency of the rpfF X. oryzae pv. oryzae mutants...
  36. Bajpai R, Makhijani K, Rao P, Shashidhara L. Drosophila Twins regulates Armadillo levels in response to Wg/Wnt signal. Development. 2004;131:1007-16 pubmed
    ..The conflicting reports on the role of PP2A in Wg/Wnt signaling could be due to the dominant-negative effect caused by the overexpression of one of the subunits. ..
  37. Saxena S, Gowrishankar J. Compromised factor-dependent transcription termination in a nusA mutant of Escherichia coli: spectrum of termination efficiencies generated by perturbations of Rho, NusG, NusA, and H-NS family proteins. J Bacteriol. 2011;193:3842-50 pubmed publisher
  38. Komatireddy S, Chakrabarti S, Mandal A, Reddy A, Sampath S, Panicker S, et al. Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India. Mol Vis. 2003;9:43-8 pubmed
    ..The different visual outcome seen in the patients suggest a variable expression of FOXC1 and also provide some insight for understanding the gene functions in this population. ..
  39. Bharathi V, Pallavi S, Bajpai R, Emerald B, Shashidhara L. Genetic characterization of the Drosophila homologue of coronin. J Cell Sci. 2004;117:1911-22 pubmed
    ..Our results provide a genetic link between endocytosis/exocytosis events involving F actin-coated vesicles and the establishment of morphogen gradient. ..
  40. Santisree P, Nongmaithem S, Vasuki H, Sreelakshmi Y, Ivanchenko M, Sharma R. Tomato root penetration in soil requires a coaction between ethylene and auxin signaling. Plant Physiol. 2011;156:1424-38 pubmed publisher
    ..Our results indicate that during tomato seed germination, a coaction between ethylene and auxin is required for root penetration into the soil. ..
  41. Rao K. Free radical induced oxidative damage to DNA: relation to brain aging and neurological disorders. Indian J Biochem Biophys. 2009;46:9-15 pubmed
  42. Lingala H, Penagaluru P. Role of connexin 26 (GJB2) & mitochondrial small ribosomal RNA (mt 12S rRNA) genes in sporadic & aminoglycoside-induced non syndromic hearing impairment. Indian J Med Res. 2009;130:369-78 pubmed
    ..This review focuses on the role of connexin 26 and mitochondrial 12S rRNA genes in hearing which will be helpful for better understanding of genes in sporadic and aminoglycoside-induced non syndromic hearing impairment. ..
  43. Samaluru H, SaiSree L, Reddy M. Role of SufI (FtsP) in cell division of Escherichia coli: evidence for its involvement in stabilizing the assembly of the divisome. J Bacteriol. 2007;189:8044-52 pubmed
    ..Since sufI fulfils the requirements to be designated an fts gene, we propose that it be renamed ftsP. ..
  44. Bhagyalaxmi S, Srinivas P, Barton K, Kumar K, Vidyavathi M, Petrash J, et al. A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. Biochim Biophys Acta. 2009;1792:974-81 pubmed publisher
  45. Singh D, Raman B, Ramakrishna T, Rao C. The cataract-causing mutation G98R in human alphaA-crystallin leads to folding defects and loss of chaperone activity. Mol Vis. 2006;12:1372-9 pubmed
    ..Tendency to aggregate and loss of chaperone activity could be contributing to turbidity and loss of transparency of the lens. ..
  46. Sankaranarayanan R, Saxena P, Marathe U, Gokhale R, Shanmugam V, Rukmini R. A novel tunnel in mycobacterial type III polyketide synthase reveals the structural basis for generating diverse metabolites. Nat Struct Mol Biol. 2004;11:894-900 pubmed
    ..This first bacterial type III PKS structure underlines a fascinating example of the way in which subtle changes in protein architecture can generate metabolite diversity in nature. ..
  47. Chandak G, Idris M, Reddy D, Mani K, Bhaskar S, Rao G, et al. Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. Gut. 2004;53:723-8 pubmed
  48. Jesuraj S, Sarker M, Ming L, Praya S, Ravikumar M, Wui W. Enhancement of the production of L-glutaminase, an anticancer enzyme, from Aeromonas veronii by adaptive and induced mutation techniques. PLoS ONE. 2017;12:e0181745 pubmed publisher
    ..The model was found to be a perfect fit in terms of maximizing enzyme yield, with the productivity improving at every stage to a fourfold output of enzyme (591.11 ±7.97 IU/mL) compared to the native strain (135±3.51 IU/mL). ..
  49. Ray S, Maitra A, Biswas A, Panjikar S, Mondal J, Anand R. Functional insights into the mode of DNA and ligand binding of the TetR family regulator TylP from Streptomyces fradiae. J Biol Chem. 2017;292:15301-15311 pubmed publisher
    ..Collectively, the structure along with corroborating biochemical studies provided insights into the novel mode of regulation of TetRs in antibiotic-producing organisms. ..
  50. Sardesai A, Gowrishankar J. trans-acting mutations in loci other than kdpDE that affect kdp operon regulation in Escherichia coli: effects of cytoplasmic thiol oxidation status and nucleoid protein H-NS on kdp expression. J Bacteriol. 2001;183:86-93 pubmed
  51. Dharmaraj N, Reddy A, Kiran V, Mandal A, Panicker S, Chakrabarti S. PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India. Ophthalmic Genet. 2003;24:161-5 pubmed
    ..This is the first report describing a PAX6 gene mutation in aniridia cases from India and highlights the variable expressivity in phenotypes due to haploinsufficiency...
  52. Ranjan A, Sharma S, Banerjee R, Sen U, Sen R. Structural and mechanistic basis of anti-termination of Rho-dependent transcription termination by bacteriophage P4 capsid protein Psu. Nucleic Acids Res. 2013;41:6839-56 pubmed publisher
    ..We show that this configuration of Psu makes the central channel of Rho inaccessible, and it causes a mechanical impediment to its translocase activity. ..
  53. Babu K, Rao K, Kanakavalli M, Suryanarayana V, Deenadayal M, Singh L. CYP1A1, GSTM1 and GSTT1 genetic polymorphism is associated with susceptibility to polycystic ovaries in South Indian women. Reprod Biomed Online. 2004;9:194-200 pubmed
  54. Anupama K, Leela J, Gowrishankar J. Two pathways for RNase E action in Escherichia coli in vivo and bypass of its essentiality in mutants defective for Rho-dependent transcription termination. Mol Microbiol. 2011;82:1330-48 pubmed publisher
  55. Kalyani B, Muteeb G, Qayyum M, Sen R. Interaction with the nascent RNA is a prerequisite for the recruitment of Rho to the transcription elongation complex in vitro. J Mol Biol. 2011;413:548-60 pubmed publisher
    ..We concluded that the nascent RNA loading of Rho and its interaction with the rut site are mandatory and prerequisites for its recruitment to the EC under in vitro experimental conditions. ..
  56. Vasavi M, Ponnala S, Gujjari K, Boddu P, Bharatula R, Prasad R, et al. DNA methylation in esophageal diseases including cancer: special reference to hMLH1 gene promoter status. Tumori. 2006;92:155-62 pubmed
    ..Further, we evaluated the role of factors affecting the methylation cycle: (1) methylenetetrahydrofolate reductase (MTHFR) C677T mutation and (2) serum homocysteine levels...
  57. Chakrabarti S, Devi K, Komatireddy S, Kaur K, Parikh R, Mandal A, et al. Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci. 2007;48:5439-44 pubmed
    ..The similar haplotype background of these mutations is indicative of their common origin across multiple glaucoma phenotypes. ..
  58. Nagabhushana A, Chalasani M, Jain N, Radha V, Rangaraj N, Balasubramanian D, et al. Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. BMC Cell Biol. 2010;11:4 pubmed publisher
    ..These results also have implications for the pathogenesis of glaucoma caused by the E50K mutation because endocytic recycling is vital for maintaining homeostasis. ..
  59. Chakrabarti S, Kaur K, Kaur I, Mandal A, Parikh R, Thomas R, et al. Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. Invest Ophthalmol Vis Sci. 2006;47:43-7 pubmed
    ..The strong association of specific haplotypes with some predominant CYP1B1 mutations underlying PCG and the observed geographical clustering, probably due to founder effects, may be useful for predictive testing. ..
  60. Chakravarthi S, Kannabiran C, Sridhar M, Vemuganti G. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. Invest Ophthalmol Vis Sci. 2005;46:121-5 pubmed
    ..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...
  61. Radha Rama Devi A, Panday N, Naushad S. FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis. Gene. 2017;627:222-225 pubmed publisher
    ..To conclude, this is the first report of FOXN1 mutation from India highlighting that diseases once confined to certain geographical areas are spreading across the globe probably due to human migrations. ..
  62. Chiliveri S, Deshmukh M. Structure of RDE-4 dsRBDs and mutational studies provide insights into dsRNA recognition in the Caenorhabditis elegans RNAi pathway. Biochem J. 2014;458:119-30 pubmed publisher
    ..elegans. Additionally, we postulate a structural basis for the minimal requirement of linker and dsRBD2 for RDE-4's association with dsRNA and Dcr-1. ..
  63. Harinarayanan R, Gowrishankar J. Host factor titration by chromosomal R-loops as a mechanism for runaway plasmid replication in transcription termination-defective mutants of Escherichia coli. J Mol Biol. 2003;332:31-46 pubmed
  64. Harinarayanan R, Gowrishankar J. A dnaC mutation in Escherichia coli that affects copy number of ColE1-like plasmids and the PriA-PriB (but not Rep-PriC) pathway of chromosomal replication restart. Genetics. 2004;166:1165-76 pubmed
  65. Al Hammadi A, Sreelakshmi Y, Negi S, Siddiqi I, Sharma R. The polycotyledon mutant of tomato shows enhanced polar auxin transport. Plant Physiol. 2003;133:113-25 pubmed
    ..Our analysis reveals a level of control that negatively regulates PAT in tomato and its contribution to plant development and organogenesis. ..
  66. Sultana A, Sridhar M, Klintworth G, Balasubramanian D, Kannabiran C. Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. Clin Genet. 2005;68:454-60 pubmed
    ..These data demonstrate a high degree of allelic heterogeneity of the CHST6 gene in patient populations with MCD from Southern India, where this disease may have a relatively higher prevalence than in outbred communities...
  67. Kilambi H, Kumar R, Sharma R, Sreelakshmi Y. Chromoplast-specific carotenoid-associated protein appears to be important for enhanced accumulation of carotenoids in hp1 tomato fruits. Plant Physiol. 2013;161:2085-101 pubmed publisher
    ..Increase in CHRC levels may contribute to the enhanced carotenoid content in these high-pigment fruits by assisting in the sequestration and stabilization of carotenoids. ..
  68. Bharatan S, Reddy M, Gowrishankar J. Distinct signatures for mutator sensitivity of lacZ reversions and for the spectrum of lacI/lacO forward mutations on the chromosome of nondividing Escherichia coli. Genetics. 2004;166:681-92 pubmed
  69. Parsam V, Kannabiran C, Honavar S, Vemuganti G, Ali M. A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma. J Genet. 2009;88:517-27 pubmed
    ..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. ..
  70. Kiran U, Regur P, Kreutz M, Sharma Y, Chakraborty A. Intermotif Communication Induces Hierarchical Ca2+ Filling of Caldendrin. Biochemistry. 2017;56:2467-2476 pubmed publisher
    ..EF3 controls initial Ca2+ binding and dictates structural destabilization of EF4. It is likely that this unexpected intermotif communication will have an impact on Ca2+-dependent target interactions. ..
  71. Tanneeru K, Guruprasad L. Structural basis for binding of aurora-AG198N- INCENP complex: MD simulations and free energy calculations. Protein Pept Lett. 2013;20:1246-56 pubmed
    ..Our results provide the structural basis and energetics of the human Aurora-A(G198N) - INCENP complex. ..
  72. Vendra V, Chandani S, Balasubramanian D. The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract. PLoS ONE. 2012;7:e51401 pubmed publisher
    ..This set of changes in the properties of the mutant offers a molecular insight into the mechanism of opacification. ..
  73. Muppirala M, Gupta V, Swarup G. Tyrosine phosphorylation of a SNARE protein, syntaxin 17: implications for membrane trafficking in the early secretory pathway. Biochim Biophys Acta. 2012;1823:2109-19 pubmed publisher
    ..These results suggest that tyrosine phosphorylation of syntaxin 17 is likely to have a role in regulating syntaxin 17 dependent membrane trafficking in the early secretory pathway. ..
  74. Paliwal S, Bhaskar S, Mani K, Reddy D, Rao G, Singh S, et al. Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants. Gut. 2013;62:1602-6 pubmed publisher
    ..N34S SPINK1 or p.L26V CTSB mutations was observed. This study on a large cohort of TCP patients provides evidence of allelic heterogeneity and confirms that CTRC variants play a significant role in its pathogenesis. ..
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    ..and animal-pathogenic bacteria belonging to Burkholderia spp. This is the first report of a role for XadM, an Rhs family protein, in adhesion and virulence of any pathogenic bacteria. ..
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    ..Our results suggest that KdpA' provides an incipient pathway for K+ translocation which can serve to transport K+ into the cells in response to the cytoplasmic membrane potential. ..
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