Vanita Vanita

Summary

Publications

  1. ncbi request reprint A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Am J Med Genet A 140:558-66. 2006
  2. ncbi request reprint A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 13:2035-40. 2007
  3. doi request reprint Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Genet Test Mol Biomarkers 13:43-9. 2009
  4. doi request reprint Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes
    Vanita Vanita
    Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143005, Punjab, India
    Mol Cell Biochem 396:137-45. 2014
  5. doi request reprint Association of RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms with diabetic retinopathy in T2DM patients from north India
    Vanita Vanita
    Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India Electronic address
    Diabetes Res Clin Pract 104:155-62. 2014
  6. doi request reprint A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type
    Vanita Vanita
    Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, Punjab, India
    Mol Cell Biochem 368:167-72. 2012
  7. ncbi request reprint Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 12:93-9. 2006
  8. pmc Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 15:476-81. 2009
  9. pmc A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 14:1171-5. 2008
  10. pmc A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 14:323-6. 2008

Detail Information

Publications17

  1. ncbi request reprint A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Am J Med Genet A 140:558-66. 2006
    ..Our findings expand the mutation spectrum of MAF in association with congenital cataract and highlight the genetic and phenotypic heterogeneity of congenital cataract...
  2. ncbi request reprint A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 13:2035-40. 2007
    ..To identify the genetic defect in an autosomal dominant ectopia lentis (EL) family having 27 affected members in four generations...
  3. doi request reprint Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Genet Test Mol Biomarkers 13:43-9. 2009
    ..HME is genetically heterogeneous with two known genes on 8q24 (EXT1) and 11p11 (EXT2), and a third minor locus mapped to 19p (EXT3). The majority of EXT1 and EXT2 mutations result in premature protein truncation and loss of function...
  4. doi request reprint Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes
    Vanita Vanita
    Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143005, Punjab, India
    Mol Cell Biochem 396:137-45. 2014
    ....
  5. doi request reprint Association of RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms with diabetic retinopathy in T2DM patients from north India
    Vanita Vanita
    Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India Electronic address
    Diabetes Res Clin Pract 104:155-62. 2014
    ..The present study aimed to examine the association of RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms with diabetic retinopathy (DR) in north Indian T2DM patients...
  6. doi request reprint A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type
    Vanita Vanita
    Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, Punjab, India
    Mol Cell Biochem 368:167-72. 2012
    ....
  7. ncbi request reprint Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 12:93-9. 2006
    ..The molecular characterization of 27 members of an Indian family, with 13 members in four generations, affected with Y-sutural congenital cataract...
  8. pmc Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 15:476-81. 2009
    ..To identify the underlying genetic defect in a north Indian family with seven members in three-generations affected with bilateral congenital cataract...
  9. pmc A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 14:1171-5. 2008
    ..To detect the underlying genetic defect in a family with three members in two generations affected with bilateral congenital cataract...
  10. pmc A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 14:323-6. 2008
    ..To identify the underlying genetic defect in a three-generation family with five members affected with dominant bilateral congenital cataract and microcornea...
  11. ncbi request reprint A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 12:1217-22. 2006
    ..To identify the genetic defect in an autosomal dominant congenital cataract family, having 15 members in three generations, affected with bilateral cataract that gave the appearance of "full moon" with Y-sutural opacities...
  12. ncbi request reprint A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, Punjab, India
    Mol Vis 12:518-22. 2006
    ..The molecular characterization of an Indian family having 10 members in four generations affected with a unique fan-shaped cataract-microcornea syndrome...
  13. ncbi request reprint A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family
    Kamlesh Guleria
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 13:1657-65. 2007
    ..To identify the genetic defect in an autosomal dominant congenital cataract family (ADCC), having 18 individuals in four generations affected with embryonal cataract...
  14. doi request reprint A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
    Seema Saini
    Department of Human Genetics, Guru Nanak Dev University, GT Road, Amritsar, Punjab, India
    Exp Eye Res 104:82-8. 2012
    ..The present findings further substantiate the role of PRPF31 that encodes a component of the spliceosome complex in relation to ADRP...
  15. pmc A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene
    Kamlesh Guleria
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 13:797-803. 2007
    ..To undertake mutation screening in the connexin 46 (GJA3) gene in seven congenital cataract families of Indian origin...
  16. doi request reprint Association of aldose reductase gene (AKR1B1) polymorphism with diabetic retinopathy
    Navdeep Kaur
    Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India Electronic address
    Diabetes Res Clin Pract 121:41-48. 2016
    ..Present study aimed to investigate the association of aldose reductase (AKR1B1) gene polymorphism (-106C>T; rs759853) with diabetic retinopathy (DR) in type 2 diabetes mellitus (T2DM) patients from north India...
  17. ncbi request reprint Association analysis of PPARĪ³ (p.Pro12Ala) polymorphism with type 2 diabetic retinopathy in patients from north India
    Navdeep Kaur
    a Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India
    Ophthalmic Genet . 2016
    ..The present study aimed to examine the association of PPARĪ³ (p.Pro12Ala) polymorphism with type 2 diabetic retinopathy (DR) in patients from north India...