an effort of Human Genetics Research Lab, Jammu and Kashmir, India
Top Research Articles
Singh H, Shipra, Gupta M, Gupta N, Gupta G, Pandita AK, Sharma R, Pandita S, Singh V, Garg B, Rai E, Sharma S. Eur J Med Res. 2024 Jan 20;29(1):66.
Akshi Spolia, Arshia Angural, Varun Sharma, Shipra, Sushil Razdan, Manoj K. Dhar, Ankit Mahajan, Vijeshwar Verma, Kamal K. Pandita, Swarkar Sharma & Ekta Rai. Nature Scientific Reports volume 13, Article number: 7852 (2023)
Singh H, Shipra, Sharma V, Sharma I, Sharma A, Modeel S, Gupta N, Gupta G, Pandita AK, Butt MF, Sharma R, Pandita S, Singh V, Rai E, Ikegawa S, Sharma S. Am J Transl Res. 2022 15;14(2):1100-1106.
Gastric cancer in Jammu and Kashmir, India: A review of genetic perspectives.
Shah R, Khaitan PG, Pandita TK, Rafiq A, Abrol D, Suri J, Kaul S, Kumar R, Sharma S. J Cancer Res Ther. 2022 Jul-Sep;18(4):873-879.
Angural, A.; Ponnusamy, K.; Langeh, D.; Kumari, M.; Spolia, A.; Rai, E.; Sharma, A.; Pandita, K.K.; Sharma, S. Preprints 2021, 2021070661
Dual labeled fluorescence probe based qPCR assay to measure the telomere length.
Sethi I, Bhat GR, Kumar R, Rai E, Sharma S.Gene. 2021 Jan 30;767:145178.
RE: ACE2 Homodimerization Affects Binding of SARS-CoV-2 Spike Protein (e letter reply to Yan et. al. 2020. Structural basis for the recognition of SARS-CoV-2 by full-length human ACE2. Sharma, S., Singh, I., Haider, S., Malik, M.Z., Ponnusamy, K., Rai, E. Science, Vol. 367, Issue 6485, pp. 1444-1448).
Shah R, Sharma V, Singh H, Sharma I, Bhat GA, Shah IA, Iqbal B, Rafiq R, Nissa N, Muzaffar M, Rasool MT, Lone GN, Kaul S, Lone MM, Rai E, Dar NA, Sharma S. J Cancer Res Ther. 2020 Dec;16(Supplement):S156-S159. doi: 10.4103/jcrt.JCRT_613_19.
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger H-G, Hammerschmidt P, et al: The American Journal of Human Genetics 2015, 97:837--847.
A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.
Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, et al:Nature Communications 2015, 6.
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.
Kou I, Takahashi Y, Johnson TA, Takahashi A, Guo L, Dai J, Qiu X, Sharma S, Takimoto A, Ogura Y, et. al.: Nature Genetics 2013, 45:676-679.
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A, Spolia A, Mahajan A, Verma V, Sharma A, Kumar P, Dhar MK, Pandita KK, Rai E, Sharma S. Front Genet. 2020 Apr 30;11:415. doi: 10.3389/fgene.2020.00415. eCollection 2020.PMID: 32425985 Free PMC article. Review.
A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications.
Angural A, Sharma I, Pandoh P, Sharma V, Spolia A, Rai E, Singh V, Razdan S, Pandita KK, Sharma S. Mitochondrion. 2019 May;46:209-213. doi: 10.1016/j.mito.2018.06.005. Epub 2018 Jun 19.PMID: 29929013
Ancient Human Migrations to and through Jammu Kashmir- India were not of Males Exclusively.
Sharma I, Sharma V, Khan A, Kumar P, Rai E, Bamezai RNK, Vilar M, Sharma S. Sci Rep. 2018 Jan 16;8(1):851. doi: 10.1038/s41598-017-18893-8.PMID: 29339819 Free PMC article.
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.
Angural A, Singh I, Mahajan A, Pandoh P, Dhar MK, Kaul S, Verma V, Rai E, Razdan S, Kishore Pandita K, Sharma S. Sci Rep. 2017 Jul 5;7(1):4834. doi: 10.1038/s41598-017-05388-9.PMID: 28680084 Free PMC article.
Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
Rai E, Mahajan A, Kumar P, Angural A, Dhar MK, Razdan S, Thangaraj K, Wise CA, Ikegawa S, Pandita KK, Sharma S. Sci Rep. 2016 Jun 13;6:27684. doi: 10.1038/srep27684.PMID: 27291587 Free PMC article.
Other Research Publications
HGRG researchers have contributed extensively in global research initiatives in Human Genetics and Genomics. Other peer reviewed research publications are:
PUBLICATIONS by hgrg BASED ON RESEARCH IN J&K populationS
Akshi Spolia, Shipra, Arshia Angural, Hemender Singh, Vijeshwar Verma, Kamal K Pandita, Swarkar Sharma and Ekta Rai . Int J Hum Genet, 22(3): 225-232 (2022) DOI: 10.31901/24566330.2022/22.03.828
Metabolic syndrome and underlying genetic determinants-A systematic review.
Rana S, Ali S, Wani HA, Mushtaq QD, Sharma S, Rehman MU. J Diabetes Metab Disord. 2022 Mar 3;21(1):1095-1104.
Angural, A.; Ponnusamy, K.; Langeh, D.; Kumari, M.; Spolia, A.; Rai, E.; Sharma, A.; Pandita, K.K.; Sharma, S. Preprints 2021, 2021070661 (doi: 10.20944/preprints202107.0661.v1)
Dual labeled fluorescence probe based qPCR assay to measure the telomere length.
Sethi I, Bhat GR, Kumar R, Rai E, Sharma S. Gene. 2021 Jan 30;767:145178. doi: 10.1016/j.gene.2020.145178. Epub 2020 PMID: 33007378
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A, Spolia A, Mahajan A, Verma V, Sharma A, Kumar P, Dhar MK, Pandita KK, Rai E, Sharma S. Front Genet. 2020 Apr 30;11:415. doi: 10.3389/fgene.2020.00415. eCollection 2020.PMID: 32425985 Free PMC article. Review.
Telomere Maintenance Genes are associated with Type 2 Diabetes Susceptibility in Northwest Indian Population Group.
Sethi I, Sharma V, Sharma I, Singh G, Bhat GR, Bhanwer AJS, Sharma S, Rai E. Sci Rep. 2020 Apr 15;10(1):6444. doi: 10.1038/s41598-020-63510-w.PMID: 32296102 Free PMC article.
LRFN2 gene variant rs2494938 provides susceptibility to esophageal cancer in the population of Jammu and Kashmir.
Shah R, Sharma V, Singh H, Sharma I, Bhat GA, Shah IA, Iqbal B, Rafiq R, Nissa N, Muzaffar M, Rasool MT, Lone GN, Kaul S, Lone MM, Rai E, Dar NA, Sharma S. J Cancer Res Ther. 2020(Supplement):S156-S159. doi: 10.4103/jcrt.JCRT_613_19.PMID: 32880595
A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications.
Angural A, Sharma I, Pandoh P, Sharma V, Spolia A, Rai E, Singh V, Razdan S, Pandita KK, Sharma S. Mitochondrion. 2019 May;46:209-213. doi: 10.1016/j.mito.2018.06.005. Epub 2018 Jun 19.PMID: 29929013
Ancient Human Migrations to and through Jammu Kashmir- India were not of Males Exclusively.
Sharma I, Sharma V, Khan A, Kumar P, Rai E, Bamezai RNK, Vilar M, Sharma S. Sci Rep. 2018 Jan 16;8(1):851. doi: 10.1038/s41598-017-18893-8.PMID: 29339819 Free PMC article.
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.
Angural A, Singh I, Mahajan A, Pandoh P, Dhar MK, Kaul S, Verma V, Rai E, Razdan S, Kishore Pandita K, Sharma S. Sci Rep. 2017 Jul 5;7(1):4834. doi: 10.1038/s41598-017-05388-9.PMID: 28680084 Free PMC article.
Origin and spread of human mitochondrial DNA haplogroup U7.
Sahakyan H, Hooshiar Kashani B, Tamang R, Kushniarevich A, Francis A, Costa MD, Pathak AK, Khachatryan Z, Sharma I, van Oven M, Parik J, Hovhannisyan H, Metspalu E, Pennarun E, Karmin M, Tamm E, Tambets K, Bahmanimehr A, Reisberg T, Reidla M, Achilli A, Olivieri A, Gandini F, Perego UA, Al-Zahery N, Houshmand M, Sanati MH, Soares P, Rai E, Šarac J, Šarić T, Sharma V, Pereira L, Fernandes V, Černý V, Farjadian S, Singh DP, Azakli H, Üstek D, Ekomasova Trofimova N, Kutuev I, Litvinov S, Bermisheva M, Khusnutdinova EK, Rai N, Singh M, Singh VK, Reddy AG, Tolk HV, Cvjetan S, Lauc LB, Rudan P, Michalodimitrakis EN, Anagnou NP, Pappa KI, Golubenko MV, Orekhov V, Borinskaya SA, Kaldma K, Schauer MA, Simionescu M, Gusar V, Grechanina E, Govindaraj P, Voevoda M, Damba L, Sharma S, Singh L, Semino O, Behar DM, Yepiskoposyan L, Richards MB, Metspalu M, Kivisild T, Thangaraj K, Endicott P, Chaubey G, Torroni A, Villems R. Sci Rep. 2017 Apr 7;7:46044. doi: 10.1038/srep46044.PMID: 28387361 Free PMC article.
Replication of newly identified type 2 diabetes susceptible loci in Northwest Indian population.
Sharma V, Sharma I, Sethi I, Mahajan A, Singh G, Angural A, Bhanwer AJS, Dhar MK, Singh V, Rai E, Sharma S. Diabetes Res Clin Pract. 2017 Apr;126:160-163. doi: 10.1016/j.diabres.2017.02.013. Epub 2017 Feb 16.PMID: 28258026
Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
Rai E, Mahajan A, Kumar P, Angural A, Dhar MK, Razdan S, Thangaraj K, Wise CA, Ikegawa S, Pandita KK, Sharma S. Sci Rep. 2016 Jun 13;6:27684. doi: 10.1038/srep27684.PMID: 27291587 Free PMC article.
Understanding Genetic Heterogeneity in Type 2 Diabetes by Delineating Physiological Phenotypes: SIRT1 and its Gene Network in Impaired Insulin Secretion.
Ali S, Nafis S, Kalaiarasan P, Rai E, Sharma S, Bamezai RN. Rev Diabet Stud. 2016 Spring;13(1):17-34. doi: 10.1900/RDS.2016.13.17. Epub 2016 May 10.PMID: 27563694 Free PMC article. Review.
mtDNA G10398A variation provides risk to type 2 diabetes in population group from the Jammu region of India.
Sharma V, Sharma I, Singh VP, Verma S, Pandita A, Singh V, Rai E, Sharma S. Meta Gene. 2014 Apr 13;2:269-73. doi: 10.1016/j.mgene.2014.02.003. eCollection 2014 Dec.PMID: 25606409 Free PMC article.
Risk factors of type 2 diabetes in population of Jammu and Kashmir, India.
Mahajan A, Sharma S, Dhar MK, Bamezai RN. J Biomed Res. 2013 Sep;27(5):372-9. doi: 10.7555/JBR.27.20130043. Epub 2013 Aug 25.PMID: 24086170 Free PMC article.
Replication of type 2 diabetes candidate genes variations in three geographically unrelated Indian population groups.
Ali S, Chopra R, Manvati S, Singh YP, Kaul N, Behura A, Mahajan A, Sehajpal P, Gupta S, Dhar MK, Chainy GB, Bhanwer AS, Sharma S, Bamezai RN. PLoS One. 2013;8(3):e58881. doi: 10.1371/journal.pone.0058881. Epub 2013 Mar 19.PMID: 23527042 Free PMC article.
The interactive effect of SIRT1 promoter region polymorphism on type 2 diabetes susceptibility in the North Indian population.
Rai E, Sharma S, Kaul S, Jain K, Matharoo K, Bhanwer AS, Bamezai RN. PLoS One. 2012;7(11):e48621. doi: 10.1371/journal.pone.0048621. Epub 2012 Nov 1.PMID: 23133645 Free PMC article.
Other Research Publications
HGRG researchers have contributed extensively in global research initiatives in Human Genetics and Genomics. Other peer reviewed research publications are: