Experts and Doctors on phenotype in Mumbai, Maharashtra, India


Locale: Mumbai, Maharashtra, India
Topic: phenotype

Top Publications

  1. Nascimento R, Gouran H, Chakraborty S, Gillespie H, Almeida Souza H, Tu A, et al. The Type II Secreted Lipase/Esterase LesA is a Key Virulence Factor Required for Xylella fastidiosa Pathogenesis in Grapevines. Sci Rep. 2016;6:18598 pubmed publisher
    ..We propose that Xf pathogenesis is caused by LesA secretion mediated by OMV cargos and that its release and accumulation in leaf margins leads to early stages of observed PD symptoms. ..
  2. Modi D, Berde P, Bhartiya D. Down syndrome: a study of chromosomal mosaicism. Reprod Biomed Online. 2003;6:499-503 pubmed
    ..These results suggest that mechanism(s) other than mosaicism may exist for the intrauterine and postnatal survival of DS cases. ..
  3. Nair S, Nadkarni A, Ghosh K, Colah R. Variable presentation of HB H disease due to homozygosity for the rare polyadenylation signal A T(Indian) (AATAAA>AATA- -) mutation in four Indian families. Hemoglobin. 2013;37:277-84 pubmed publisher
    ..All the four patients were homozygous for the polyadenylation signal A (polyA) T(Indian) (AATAAA>AATA-) mutation. This mutation has been seen in Eastern India but not from Maharashtra and Uttar Pradesh where our patients originated. ..
  4. Gadage V, Kembhavi S, Kumar P, Shet T. Primary cardiac diffuse large B-cell lymphoma with activated B-cell-like phenotype. Indian J Pathol Microbiol. 2011;54:591-3 pubmed publisher
    ..The aggressive behavior of PCL may be possibly linked to its ABC-like origin. ..
  5. Suseendranathan K, Sengupta K, Rikhy R, D Souza J, Kokkanti M, Kulkarni M, et al. Expression pattern of Drosophila translin and behavioral analyses of the mutant. Eur J Cell Biol. 2007;86:173-86 pubmed
  6. Lakhina V, Falnikar A, Bhatnagar L, Tole S. Early thalamocortical tract guidance and topographic sorting of thalamic projections requires LIM-homeodomain gene Lhx2. Dev Biol. 2007;306:703-13 pubmed
    ..Furthermore, the absence of Lhx2 in the ventral telencephalon selectively disrupts a subset of thalamic axon topography, indicating a specific rather than a general perturbation of cues in this structure. ..
  7. Sanyal S, Basole A, Krishnan K. Phenotypic interaction between temperature-sensitive paralytic mutants comatose and paralytic suggests a role for N-ethylmaleimide-sensitive fusion factor in synaptic vesicle cycling in Drosophila. J Neurosci. 1999;19:RC47 pubmed
    ..The unusual behavior and electrophysiology of the doubly mutant flies reported here indicates a role for NSF in synaptic vesicle cycling. ..
  8. Raut A, Prabhu R, Patravale V. Psoriasis clinical implications and treatment: a review. Crit Rev Ther Drug Carrier Syst. 2013;30:183-216 pubmed
    ..Development of biologics and gene therapy have revolutionized the treatment of this skin disease. Although an array of therapies to suppress the psoriatic condition exists, none are curative. ..
  9. Nair P, Shetty S, Kulkarni B, Ghosh K. Molecular pathology of haemophilia A in Indian patients: identification of 11 novel mutations. Clin Chim Acta. 2010;411:2004-8 pubmed publisher
    ..High heterogeneity in mutational profile has been observed in the present study. The outcome of this study would enable us to give an accurate diagnosis in all affected families by direct mutation analysis. ..

More Information


  1. Deshpande P, Rodrigues C, Shetty A, Kapadia F, Hedge A, Soman R. New Delhi Metallo-beta lactamase (NDM-1) in Enterobacteriaceae: treatment options with carbapenems compromised. J Assoc Physicians India. 2010;58:147-9 pubmed
    ..Many of them were recently hospitalized in India and Pakistan and had new type of metallo beta lactamase designated as New Delhi Metallo-1 (NDM-1)...
  2. Shankarkumar U. HLA associations in leprosy patients from Mumbai, India. Lepr Rev. 2004;75:79-85 pubmed
    ..It seems that HLA class I alleles play vital roles in disease association/pathogenesis. ..
  3. Shanbhag S, Ghosh K, Shetty S. Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations. Blood Cells Mol Dis. 2016;57:81-4 pubmed publisher
    ..This is the largest series of FXIII deficient cases reported from India in which mutations were analysed with high heterogeneity in the nature of mutations along with several common mutations. ..
  4. Gupta B, Flores G, Banerjee U, Rodrigues V. Patterning an epidermal field: Drosophila lozenge, a member of the AML-1/Runt family of transcription factors, specifies olfactory sense organ type in a dose-dependent manner. Dev Biol. 1998;203:400-11 pubmed
    ..Our results suggest that Lozenge may act on the epidermal field, resulting in founder cells acquiring specific cell fates that lead to the development of an appropriate type of sense organ. ..
  5. Subramanian L, Sarkar A, Shetty A, Muralidharan B, Padmanabhan H, Piper M, et al. Transcription factor Lhx2 is necessary and sufficient to suppress astrogliogenesis and promote neurogenesis in the developing hippocampus. Proc Natl Acad Sci U S A. 2011;108:E265-74 pubmed publisher
    ..Our results therefore place Lhx2 as a central regulator of the neuron-glia cell fate decision in the hippocampus and reveal a striking regional specificity of this fundamental function within the dorsal telencephalon. ..
  6. Ayyub C. Cullin-5 and cullin-2 play a role in the development of neuromuscular junction and the female germ line of Drosophila. J Genet. 2011;90:239-49 pubmed
    ..Both cul-2 and cul-5 mutants show similar aberrations in the development of female germ line. Our results suggest that both of these cullin proteins participate in similar developmental processes. ..
  7. Velmurugan S, Lobo Z, Maitra P. Suppression of pdc2 regulating pyruvate decarboxylase synthesis in yeast. Genetics. 1997;145:587-94 pubmed
    ..The third class (xsp37) supports the growth of the pdc2 mutant on glucose but fails to support growth on gluconeogenic carbon sources. All the three suppressors suppress pdc2 delta as well and act on PDC1 at the level of transcription. ..
  8. Joti P, Ghosh Roy A, Ray K. Dynein light chain 1 functions in somatic cyst cells regulate spermatogonial divisions in Drosophila. Sci Rep. 2011;1:173 pubmed publisher
    ..Together, these results suggest that Dynein and Myosin V activities, and independent DDLC1 functions in the cyst cells organize the somatic microenvironment that regulates spermatogonial proliferation and differentiation. ..
  9. Kambli P, Ajbani K, Nikam C, Sadani M, Shetty A, Udwadia Z, et al. Correlating rrs and eis promoter mutations in clinical isolates of Mycobacterium tuberculosis with phenotypic susceptibility levels to the second-line injectables. Int J Mycobacteriol. 2016;5:1-6 pubmed publisher
    ..The results suggest that isolates with eis promoter mutations have consistently lower resistance levels to amikacin, kanamycin, and capreomycin than isolates with the rrs A1401G mutation. ..
  10. Aggarwal A, Schneider S, Houlden H, Silverdale M, Paudel R, Paisan Ruiz C, et al. Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms. Mov Disord. 2010;25:1424-31 pubmed publisher
    ..In conclusion, genetically determined NBIA cases from the Indian subcontinent suggest presence of unusual phenotypes of PANK2 and novel mutations. The phenotype of NBIA of unknown cause includes a PD-like presentation. ..
  11. Shenai S, Rodrigues C, Sadani M, Sukhadia N, Mehta A. Comparison of phenotypic and genotypic methods for pyrazinamide susceptibility testing. Indian J Tuberc. 2009;56:82-90 pubmed
    ..MGIT 960 showed better concordance with sequencing results in comparison with Wayne assay. In present study, a high proportion (85%) of MDR-TB isolates from patients receiving anti-TB treatment were found to be resistant to PZA. ..
  12. Khadilkar S, Singh R. Limb girdle muscular dystrophies in India. Neurol India. 2008;56:281-8 pubmed
    ..The laboratory facilities are limited and available in select centers in large institutes. Establishment of genetic laboratories and sophisticated muscle pathology techniques will further elucidate the LGMDs in India...
  13. Achrekar S, Modi D, Desai S, Mangoli V, Mangoli R, Mahale S. Follicle-stimulating hormone receptor polymorphism (Thr307Ala) is associated with variable ovarian response and ovarian hyperstimulation syndrome in Indian women. Fertil Steril. 2009;91:432-9 pubmed publisher
    ..Eighty-five percent of the subjects with AA genotype developed OHSS. In Indian women, the subjects with AA genotype require low amounts of FSH for ovarian stimulation and have an increased risk of developing OHSS. ..
  14. Abid S, Maitra A, Meherji P, Patel Z, Kadam S, Shah J, et al. Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India. J Clin Lab Anal. 2008;22:29-38 pubmed publisher
  15. Madhavan M, Kumar R, Krishnan K. Genetics of anesthetic response: autosomal mutations that render Drosophila resistant to halothane. Pharmacol Biochem Behav. 2000;67:749-57 pubmed
    ..Two of these mutations, Omar(82) and Qajjem(211) are shown to map to separate loci on the third chromosome. ..