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Highlighting novel genes associated with the classical Rett syndrome patient from India

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Genes & Diseases 2022年第6期9卷 1394-1396页

作者： Gomathi Mohan Ranjan Jyoti Sarma Mahalaxmi Iyer Nachimuthu Senthil Kumar Balachandar Vellingiri ugc-rgnf Senior Research Fellow Human Molecular Cytogenetics and Stem Cell LaboratoryDepartment of Human Genetics and Molecular BiologyBharathiar UniversityCoimbatore 641046Tamil NaduIndia Department of Biotechnology Mizoram University(A Central University)Aizawl 796004MizoramIndia Livestock Farming&Bioresource Technology Tamil NaduIndia Human Molecular Cytogenetics and Stem Cell Laboratory Department of Human Genetics and Molecular BiologyBharathiar UniversityCoimbatore 641046Tamil NaduIndia

Rett syndrome(RTT)is a rare X-linked brain disorder predominantly in females,caused by mutations in Methyl-CpGBinding Protein2(MECP2)gene with the characteristic features of progressive developmental delay,severe intellectual disability,microcephaly,retarded growth,loss of communication abilities,loss of purposeful hand movements,abnormal walking or gait abnormalities,repetitive hand movements,abnormal breathing,irritability and abnormal behaviours.1 Over the last five years,more than eighty genes related to RTT were found using next generation sequencing.2 Here we presented a comprehensive clinical report of a 38-year-old RTT woman having de novo heterozygous Laminin Subunit Gamma 3 gene(LAMC3)mutation G>A(Chr9:133944387;p.C947Y)links with RTT neurological dysfunctions,brain malformations,reduced brain volume and hypoplasia of corpus *** new finding supports the possibility of targeting LAMC3 gene for rescuing the neuropathology of *** deleterious mutations found in genes such as,CACNA1B(rs4422842),CUBN(rs2271460),GPATCH3(rs779537923),TUBB1(rs463312),KCNJ5(rs768906222),VWA5A(rs551469534),DNAAF1(rs751148678),and PARP1(rs3219145)were unreported in RTT patients.

关键词： RTT lighting delay

Cyanobacteria,Lyngbya aestuarii and Aphanothece bullosa as antifungal and antileishmanial drug resources

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Asian Pacific Journal of Tropical Biomedicine 2013年第6期3卷 458-463页

作者： Maheep Kumar Manoj Kumar Tripathi Akanksha Srivastava Jalaj Kumar Gour Rakesh Kumar Singh Ragini Tilak Ravi Kumar Asthana Department of Botany Faculty of ScienceBanaras Hindu University Department of Biochemistry Faculty of ScienceBanaras Hindu University Department of Microbiology Institute of Medical SciencesBanaras Hindu University

Objective:To investigate two cyanobacteria isolated from different origins *** aestuarii(***)from brackish water and Aphanothece bullosa(***)from fresh water paddy fields for antifungal and antileishmanila activity taking Candida albicans and Leishmania donovain as ***:Biomass of *** and *** were harvested after 40 and60 d respectively and lyophilized twice in methanol(100%)and redissolved in methanol(5%)for *** bioassay was done by agar well diffusion method while antileishmanial,by counting cell numbers and flageller motility observation of promastigotes and amastigotes from *** and 5%methanol were used as ***:Both the cyanobacteria were found to be potent source of antifungal activity keeping fluconazole as positive control,however,methanolic crude extract(15 mg/mL)of *** was found more potent(larger inhibition zone)over that of methanolic crude extract of ***,Similarly antileishmanial activity of crude extract(24.0 mg/mL)of *** was superior over that of methanolic crude extract of ***(25.6 mg/mL).Conclusions:Antifungal and antileishmanial drugs are still limited in the *** of microbes possessing antifungal and antileishmanial activity drug is of prime *** are little explored in this context because most of the drugs in human therapy are derived from microorganisms,mainly bacterial,fungal and *** in the present study two cyanobacterial strains from different origins showed potent source of antifungal and antileishmanial biomolecules.

关键词： Antifungal Antileishmanial Secondary metabolite Cyanobacteria

Ethnobotanical survey of medicinal plants used in the management of cancer and diabetes

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Journal of Traditional Chinese Medicine 2020年第6期40卷 1007-1017页

作者： Garima Singh Ajit Kumar Passari Marcy D Momin Sakthivel Ravi Bhim Pratap Singh Nachimuthu Senthil Kumar Department of Biotechnology Mizoram UniversityAizawl 796004India Department of Botany Pachhunga University CollegeAizawl 796001India Departamento de Biologia Molecular y Biotecnologia Instituto de Investigaciones BiomedicasUniversidad Nacional Autonoma de Mexico(UNAM)Ciudad de Mexico-04510Mexico Department of Agriculture&Environmental Sciences(AES) National Institute of Food Technology Entrepreneurship&Management(NIFTEM)SonepatHaryanaIndia

OBJECTIVE:To conduct an ethnobotanical survey and document the traditional anticancer and antidiabetic plants used by the local tribes of Mizoram,Northeast ***:A systematic survey was conducted in rural and urban areas of Mizoram by interviewing traditional practitioners,and cancer and diabetes patients.A detailed literature search was carried out using MEDLINE and SCOPUS and available literatures were selected and included in the *** use value(UV)of the selected plants was calculated based on the number of citations per species given by ***:Data was obtained for 201 traditional medicinal plants from Mizoram,Northeast *** plants were from 72 different families and belonged to 140 *** these,103 plants were reported for the first time as possessing either anticancer or antidiabetic potential,and 105 plants were identified that were used for the treatment of both *** plants(Phlogacanthus thysiformis,Solanum gilo and Lobelia angulata)with antidiabetic potential,and six plants(Dillenia scabrella,Circium sinesis,Eupatorium nodiflorum,Pratia begonifolia,Vernonia teres and Plantago erosa)with both as anticancer and antidiabetic potential were documented for the first ***:In this study,we documented several explored and unexplored medicinal plants that may be useful for the management of cancer and *** study suggests that there is a broad scope fordeveloping potent anticancer and antidiabetic agent from the flora of Mizoram,Northeast India.

关键词： Plants medicinal Antineoplastic agents Hypoglycemic agents Ethanobotanical survey Traditional knowledge

An assessment of population structure and regeneration status of Magnolia punduana Hk. f. & Th.(Magnoliaceae) in fragmented forests of northeast India

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Journal of Forestry Research 2020年第3期31卷 937-943页

作者： Viheno Iralu Ngakhainii Trune Pao Krishna Upadhaya Department of Environmental Studies School of Human and Environmental SciencesNorth-Eastern Hill UniversityShillong 793022India Department of Basic Sciences and Social Sciences School of TechnologyNorth-Eastern Hill UniversityShillong 793022India

The population structure and regeneration status of Magnolia punduana Hk. f. & Th., an endemic tree species of northeast India were investigated in fragmented forests in the Jarain Hills and in adjoining areas of Meghalaya state. The population structure was discontinuous in all the fragments with the absence of individuals in higher diameter classes. The number of individuals increased with the size of the fragment patches(p 105 ha). The number of seedlings and saplings were also higher in the larger fragments. Human-related disturbances had a negative impact on the species population(p<0.002). Variation in the population density in different forest patches has been attributed to fragment size, site characteristics and ongoing human disturbances. The restricted distribution of the species coupled withexploitation and habitat destruction underlines the need for its conservation.

关键词： Conservation Disturbance Fragmentation Magnolia punduana Restricted distribution

Antimicrobial properties of marine seaweed,Sargassum muticum against human pathogens

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Journal of Coastal Life Medicine 2015年第2期 122-125页

作者： Puthamohan Vinayaga Moorthi Chelliah Balasubramanian Department of Zoology and Microbiology Thiagarajar CollegeMadurai-09Tamil NaduIndia

Objective:To evaluate the antibacterial efficiency of the seaweed,Sargassum muticum(***)collected from Pudumadam,Ramanathapuram,Tamil Nadu,***:Crude solvent extracts of *** were obtained by using Soxhlet extraction and the solvents like acetone,methanol and *** different extracts were tested against different human bacterial pathogens such as Micrococcus sp.,Staphylococcus aureus(methicillin resistance),Salmonella paratyphi B,Staphylococcus epidermis(3615),Enterobacter aerogenus(111),Klebsiella pneumonia(109),Shigella fleschneri(1457)(***),Proteus vulgaris(1771),Staphylococcus aureus(96)and Salmonella typhymurium(SP7)which were obtained from Microbial Type Culture Collection,Indian Institute of Microbial Technology,Chandigarh,***:The results revealed that acetone extract had unveiled the maximum of 11 mm zone of inhibition at 40μL against *** zone of inhibition(11 mm)was also observed at 50μL against Micrococcus *** *** by acetone extract,chloroform extract also contributed 11 mm zone of inhibition against *** and Salmonella paratyphi B at 40 and 50μL ***,methanol extracts revealed meager antibacterial activity(9 mm).Conclusions:The present investigation suggests that the phytochemical constituent of the *** might be suitable agents for the control of human deadly diseases.

关键词： Sargassum muticum Seaweed Acetone extract Chloroform extract Methanol extract Bacterial pathogens

Phytochemical and antimicrobial activity of green microalgae from Vellar Estuary,southeast coast of India

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Journal of Coastal Life Medicine 2016年第5期4卷 374-376页

作者： Dineshkumar Ramar Narendran Rajendran Sampathkumar Pichai Centre of Advanced Study in Marine Biology Faculty of Marine SciencesAnnamalai University608502 ParangipettaiIndia

Objective:To determine the phytochemicals and screen the antimicrobial potential of Desmococcus olivaceus(***)and Chlorella vulgaris(***)against human bacterial ***:*** and *** were collected and confirmed through morphological *** were analyzed and confirmed by chemical *** layer chromatography was performed to evaluate the bioactive compounds present in the solvent *** activity of the extract obtained from dried green microalgae was tested against Gram negative and Gram positive bacteria using agar disc diffusion *** Gram negative bacteria like Klebsiella pneumonia,Proteus mirabilis,Vibrio cholerae,Salmonella typhi,Escherichia coli and Gram positive bacteria including Staphylococcus aureus,Bacillus subtilis,Enterococcus sp.,Clostridium botulinum(***)and Nocardia *** selected for *** cultures were obtained from Microbial Culture Maintenances Laboratory,Department of Medical Microbiology,Rajah Muthaiah Medical College,Annamalai University,Tamil Nadu,***:Seven bioactive compounds were detected viz.,phenols,tannin,flavanoids,saponins,terpenes,carbohydrates,alkaloids and *** Gram negative bacteria,Proteus mirabilis treated with ethanol extract of *** showed the maximum inhibition zone(17.2 mm),whereas in Gram positive bacteria,*** treated with diethyl ether extract showed inhibition zone of 19.0 *** test for ***,Gram negative bacteria Salmonella typhi treated with ethanol extract showed the maximum inhibition zone(13.0 mm),whereas in Gram positive bacteria,*** treated with chloroform extract of *** showed the maximum inhibition zone of 15 ***:The results clearly indicated that *** and *** contain promising antibacterial compounds.

关键词： Desmococcus olivaceous Chlorella vulgaris Phytochemical Alkaloids and steroids Antibacterial activity