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| 1 | Antimicrobial activity of certain Indian medicinal plants used in folkloric medicine显示文摘 | D. Srinivasan Sangeetha Nathan T. Suresh P. Lakshmana Perumalsamy | 2001 | Journal of Ethnopharmacology2001，，3： | 2 |
| 2 | Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India显示文摘Background:Leber congenital amaurosis(LCA),primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy(IRD)responsible for congenital blindness.The presence of phenotypic heterogeneity makes the diagnosis of LCA challenging,especially in the absence of pronounced disease pathognomonic,yet it can be well comprehended by employing molecular diagnosis.Therefore,the present study aimed to reveal the causative mutations in ten LCA patients with variable phenotypes using clinical exome sequencing(CES).Methods:CES was performed in ten unrelated LCA patients.Ophthalmic information and family history of all patients were obtained to make a meaningful interpretation.The clinical exome data was analyzed and prioritized using a bioinformatics pipeline to identify mutations,which was further validated by Sanger sequencing.Segregation analysis was also performed on available family members.Results:CES led to the identification of causative mutations in nine LCA patients.Seven patients harbored a mutation in six LCA candidate genes,including RPE65,LCA5(n=2),CRX,PRPH2,CEP290,and ALMS1,while two patients possess a mutation in IFT80 and RP1,known to cause other diseases.Three novel mutations in LCA5(c.1823del),CRX(c.848del)and CEP290(c.2483G>T)were identified.The current study reports for the first time,a mutation in PRPH2,CEP290,and ALMS1 from the Indian population.Additionally,we observed a novel association of LCA phenotype with IFT80 known to cause Jeune syndrome.Based on the genetic finding,the patient AS09,who harbored a mutation in the RP1 gene,was re-diagnosed with early-onset retinitis pigmentosa.Conclusion:In conclusion,the results underline the importance of CES in clinically diagnosed LCA patients with variable phenotypes.The correlation between mutations in candidate genes and clinical phenotypes,helps to refine the clinical diagnosis.However,molecular evaluation with a larger cohort of LCA patients is needed for better understanding of the mutational spectrum in southern India. | Sriee Viswarubhiny Rupa Anjanamurthy Ayyasamy Vanniarajan Devarajan Bharanidharan Vijayalakshmi Perumalsamy Periasamy Sundaresan | 2021 | Eye and Vision2021，8，1： | 1 |
| 3 | Effects and possi- ble mechanisms of action of acacetin on the behavior and eye mor- phology of Drosophila models of Alzheimer' s disease 显示文摘 | Wang X Perumalsamy H Kwon H W | 2015 | Sci Rep2015，5，16： | 1 |
| 4 | Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism显示文摘 | Renugadevi K Sil AK Perumalsamy V | 2010 | Mol Vis2010，16，： | 1 |
| 5 | An Insightful overview onmicrobial pigment,prodigiosin显示文摘 | CHIDAMBARAM K V PERUMALSAMY L | 2009 | Electronic Journal of Biology2009，5，3： | 1 |
| 6 | Notch-activated signaling cascade interacts with mitochondrial remodeling proteins to regulate cell survival 显示文摘 | Perumalsamy LR Nagala M Satin A | 2010 | Proc Natl Acad Sci U S A2010，107，15： | 1 |
| 7 | Larvicidal activity of compounds isolated from A sarum heterotropoides against Culex pipiens pallens, Aedes aegypti, and Ochlerotatus togoi (Diptera: Culicidae) 显示文摘 | Perumalsamy H Kim N J Ahn Y J | 2009 | Biol Control2009，46，6： | 1 |
| 8 | Notch-activated signaling cascade interacts with mitochondrial remodeling proteins to regulate cell survival显示文摘 | Perumalsamy LR Nagala M Sarin A | | 0，，： | 1 |
| 9 | Larvicidal activity of Asarum heterotropoides root constituents against insecticide- susceptible and -resistant Culex pipiens pallens and Aedes aegypti and Ochlerotatus togoi显示文摘 | Perumalsamy H Chang K S Park C | 2010 | J Agric Food Chem2010，58，10： | 1 |
| 10 | Decolourization potential of white-rot fungus Phanerochaete chrysosporium on synthetic dye bath effluent containing Amido black 10B显示文摘 | SRENTHILKUMAR S PERUMALSAMY M PRABHU H J | 2014 | Journal of Saudi Chemical Society2014，18，6： | 1 |
| 11 | Notch-activated signaling cascade interacts with mitochondrial remodeling proteins to regulate cell survival显示文摘 | Perumalsamy L R Nagala M Satin A | 2010 | Proc Natl Acad Sci U S A2010，107，15： | 1 |
| 12 | The use of cochineal and Monascus purpureus as dyes for cotton fabric显示文摘 | Palanivel V Algumthu T Perumalsamy L | 2013 | Coloration Technology2013，129，4： | 1 |
| 13 | Co-enzyme Q10 supplementation improves ovarian response and mitochondrial function in aged mice显示文摘 | Burstein E Perumalsamy A Bentov Y | 2009 | Fertil Steril2009，92，31： | 1 |
| 14 | Biosurfactant production from novel air isolate NITT6L: screening, characterization and optimization of media显示文摘 | Vanavil B Perumalsamy M Rao AS | 2013 | J Microbiol Biotechnol2013，23，： | 1 |
| 15 | Larvicidal ac- tivity and possible mode of action of four flavonoids and two fatty acids identified in Millettia pinnata seed toward three mosquito species显示文摘 | Perumalsamy H Jang M J Kim J R | 2015 | Parasites & Vectors2015，8，1： | 1 |
| 16 | Autosomal recessive juvenile onset cataract associated with mutation in BFSPI 显示文摘 | Ramachandran RD Perumalsamy V Hejtmancik JF | 2007 | Hum Genet2007，121，3： | 1 |
| 17 | Larvicidalactivity of Asarum heterotropoides root constituentsagainst insecticide-susceptible and-resistant Culexpipiens pallens and Aedes aegypti and Ochlerotatustogoi显示文摘 | Perumalsamy H Chang K S Park C | 2010 | Journal of Agricultural and Food Chemis-try2010，8，10： | 1 |
| 18 | An Insightful Overview on Microbial Pigment, Prodigiosin显示文摘 | Venil CK Perumalsamy Lakshmanaperumalsamy | 2009 | Electronic Journal of Biology2009，5，： | 1 |
| 19 | NLRP5 mediates mitochondrial function in mouse oocytes and embryos显示文摘 | Fernandes R Tsuda C Perumalsamy A L et 01 | 2012 | BioI Reprod2012，86，13： | 1 |
| 20 | Enhanced tox- icity of binary mixtures of larvicidal constituents from Asa- rum heterotropoides root to Culex pipiens pollens ( Diptera : Culicidae) 显示文摘 | Perumalsamy H Kim J R Kim S I | 2012 | Journal of Medical Entomology2012，49，1： | 1 |
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