Selected Publications 

​

 

1.Karthik, M., Shivananda, S., Gopinath, K.S. and Kumar, A. Oncogenic role of MiR-130a in oral squamous cell carcinoma. Scientific Reports. 2021. 11:7787. doi: 10.1038/s41598-021-87388-4.

 

2.Madhangi, M., Dutta, D., Show, S., Bhat, V.K., Rather, M.I., Tiwari, A., Singh, N., Duvvari, M.R., Murthy, G.J., Kumar, A.* and Nongthomba, U*. Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families. Human Molecular Genetics. 2021. 30:467-484 (* Co-corresponding authors).

 

3.D'Souza, W. and Kumar, A. microRNAs in oral cancer: Moving from bench to bed

as next generation medicine. Oral oncology. 2020. 111:104916.

 

4.More, D.A. and Kumar, A. SRSF3: Newly discovered functions and roles in human health and diseases. European Journal of Cell Biology. 2020. 99:151099.

 

5.Kaushik, P., Mahajan, N., Girimaji, S.C. and Kumar, A. Whole Exome Sequencing Identifies a novel homozygous duplication mutation in the VPS13B gene in an Indian family with Cohen syndrome. Journal of Molecular Neuroscience. 2020. 70:
1225-1228. doi.org/10.1007/s12031-020-01530-x.

 

6.Singh, N., Kallollimath, P., Shah, M.H., Kapoor, S.,  Bhat, V.K., Viswanathan , L.G., Nagappa, M., Bindu, P.S., Taly, A.B., Sinha, S. and Kumar, A. Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. PLoS One. 2019. 14(5): e0215779.

 

7.Singh, N., Bhat, V.K., Tiwari, A., Kodaganur, S.G., Tontanahal, SG., Sarda, A.,  Malini, K.V. and Kumar, A. A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. Human Molecular Genetics. 2017. 26:1104-1114.

 

8.Kapoor, S., Shah, M.H., Singh, N., Rather, M.I., Bhat, V., Gopinath, S., Bindu, P.S.*, Taly, A.B., Sinha, S., Nagappa, M., Bharath, R.D., Mahadevan, A., Narayanappa, G., Chickabasaviah, Y.T. and Kumar A*.Genetic analysis of PLA2G6 in 22 Indian families with infantile neuroaxonal dystrophy, atypical late-onset neuroaxonal dystrophy and dystonia parkinsonism complex. PLoS One. 2016. 11:e0155605.* Joint corresponding authors.

 

9.Pradhan, S.A., Rather, M.I., Tiwari, A., Bhat, V.K. and Kumar, A. Evidence that TSC2 acts as transcription factor and binds to and represses the promoter of epiregulin. Nucleic Acids Research. 2014. 42:6243-6255.

 

10.Rather, M.I., Swamy, S., Gopinath, K.S. and Kumar, A. Transcriptional repression of tumor suppressor CDC73, encoding an RNA polymerase II interactor, by WT1 promotes cell proliferation: Implication for cancer therapeutics. Journal of Biological Chemistry. 2014. 289:968-976.

 

11.Rather, M.I., Nagashri, M.N., Swamy, S.S., Gopinath, K.S. and Kumar, A. Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation: Implications for cancer therapeutics. Journal of Biological Chemistry. 2013. 288:608-618.

 

12.Kodaganur, S.G., Kapoor, S.,Veerappa,A.M.,  Tontanahal, S.J., Sarda, A., Yathish, S.,  Prakash, D.R. and Kumar, A. Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature. Molecular Vision. 2013. 19:1694-1706.

 

13.Bhat, V., Girimaji , S.C., Mohan, G., Arvinda, H.R.,  Singhmar, P., Duvvari,  M.R. and Kumar, A. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. Clinical Genetics. 2011. 80:532-540.

 

14.Singhmar, P. and Kumar, A. Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. PLoS One. 2011. 6:e20397.

 

15.Kumar, A., Duvvari, M.R., Prabhakaran, V.C., Shetty, J.S., Murthy, G.J. and Blanton, SH. A homozygous mutation in LTBP2 causes isolated microspherophakia. Human Genetics. 2010. 128:365-371.

 

16.Kumar, A., Girimaji, S.C., Duvvari, M.R. and Blanton, S.H. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. American Journal of Human Genetics. 2009.  84:286-290.

 

17.Chakraborty, S., Mohiyuddin, S.M.A., Gopinath, K.S. and Kumar, A. Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinoma. BMC Cancer. 2008. 8:163.

 

18.Chakraborty, S., Khare, S., Dorairaj, S.K., Prabhakara, V.C., Prakash, D.R. and Kumar, A. Identification of genes associated with tumorigenesis of retinoblastoma by microarray analysis. Genomics. 2007. 90:344-353. 
 

19.Kumar, A., Basavaraj, M.G.,  Gupta, S.K., Qamar, I., Ali, A.M., Bajaj, V., Ramesh, T.K., Prakash, D.R., Shetty, J.S and Dorairaj, S.K. Role of CYP1B1, MYOC, OPTN and OPTC genes in adult-onset primary open-angle glaucoma: Predominance of CYP1B1 mutations in Indian patients. Molecular Vision. 2007. 13:667-676.

 

20.Ali, M., Girimaji, S.C., Markandaya, M., Shukla, A.K., Sacchidanand, S. and Kumar, A. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. Acta Neurologica Scandinavica. 2005.  111:54-63.

 

21.Kumar, A., Babu, M., Kimberling, W.J. and Venkatesh, C.P. Genetic analysis of a four-generation Indian family with Usher syndrome: A novel insertion mutation in MYO7A. Molecular Vision. 2004. 10:910-916.

 

22.Kumar, A., Babu, M., Raghunath, A. and Venkatesh, C.P. Genetic analysis of a five generation Indian family with BPES:  A novel missense mutation (p.Y215C). Molecular Vision. 2004. 10:445-449.

 

23.Bajaj, V., Markandaya, M., Krishna, L. and Kumar, A. Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5. BMC Genetics. 2004. 5:13.

 

24.Kumar, A., Blanton, S.H., Babu, M., Markandaya, M. and Girimaji, S.C. Genetic analysis of primary microcephaly in Indian families: Novel ASPM mutations. Clinical Genetics. 2004. 66:341-348.

 

25.Astbury, C., Christ, L.A., Aughton, D.J., Cassidy, S.B., Kumar, A., Eichler, E.E. and Schwartz, S. Detection of deletions in de novo "balanced" balanced chromosomal rearrangements: Further evidence for their roles in phenotypic abnormalities. Genetics in Medicine. 2004. 6:81-89.

​

26.Selvaraju, V., Markandaya, M., Prasad, P.V.S., Sathyan, P., Sethuraman, G., Srivastava, S.C., Thakker, N. and Kumar, A. Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefevre syndrome. BMC Medical Genetics. 2003. 4:5.

 

27.Kumar, A., Cassidy, S.B., Romero, L. and Schwartz, S. Molecular cytogenetics of a de novo interstitial deletion of chromosome 6q in a developmentally normal girl. American Journal of Medical Genetics Part A. 1999. 86:227-231.

 

28.Kumar, A., Becker, L.A., Depinet, T.W., Haren, J.M., Kurtz, C.L., Robin, N.H., Cassidy, S.B., Wolff, D.J. and Schwartz, S. Molecular characterization and  delineation of subtle deletions in de novo “balanced” chromosomal rearrangements. Human Genetics. 1998. 103:173-178.

 

29.Kumar, A., Kandt, R.S., Wolpert, C., Roses, A.D., Pericak-Vance, M.A. and Gilbert, J.R. A novel splice site mutation (156+G®A) in the TSC2  gene. Human Mutation. 1997. 9:64-65.

 

30.Kumar, A., Kandt, R.S., Wolpert, C., Roses, A.D., Pericak-Vance, M.A. and Gilbert, J.R. Mutation analysis of the TSC2 gene in an African-American family. Human Molecular Genetics. 1995. 4:2295-2298.

 

31.Gilbert, J.R., Speer, M.C., Stajich, J., Clancy, R., Lewis,K., Qiu, H., Yamaoka, L., Kumar, A.,Vance, J., Stewart, C., Rozear, M., Roses, A.D. and Pericak-Vance, M.A..  Exclusion mapping of chromosomal regions which cross-hybridize to FSHD1A associated markers in FSHD1B. Journal of Medical Genetics. 1995. 32:770-773.

 

32.Kumar, A., Wolpert, C., Kandt, R.S., Segal, J., Pufky, J., Roses, A.D., Pericak-Vance, M.A. and Gilbert, J.R. A de novo frame-shift mutation in the tuberin gene. Human Molecular Genetics. 1995. 4:1471-1472.

 

33.Kumar, A. and Rai, K.S. Intraspecific variation in nuclear DNA content among world populations of a mosquito, Aedes albopictus (Skuse). Theoretical and Applied Genetics. 1990. 79:748-752.

 

34.Kumar, A. and Gupta,  J.P. Linkage disequilibrium between two naturally occurring gene arrangements of Drosophila nasuta. Heredity. 1986. 57:1-4.

 

35.Gupta, J.P. and Kumar, A. Two new and two unrecorded species of Drosophila Fallen 1823 from Arunachal Pradesh, India. Senckenbergiana Biologica. 1986. 67:43-49.

​