The role of genetic mutations in genes LMNA, PPARG, PLIN1, AKT2, CIDEC in Köbberling–Dunnigan Syndrome
Published on: 22nd February, 2019
OCLC Number/Unique Identifier: 8022277557
Köbberling-Dunnigan syndrome, also known as partial familial lipodystrophy, is a rare genetic disorder characterized by abnormal distribution of adipose tissues. Many people with Köbberling-Dunnigan syndrome develop insulin resistance, a condition in which body tissues cannot adequately respond to insulin hormone. Insulin is a hormone that helps regulate the level of your blood glucose. Köbberling-Dunnigan syndrome can be due to mutations in several different genes. However, type 2 Köbberling-Dunnigan syndrome is caused by the mutation of the LMNA gene, which is located on the long arm of chromosome 1 as 1q22.
Association of Toll-like receptor 2, 4, and 9 gene polymorphism with high altitude induced thrombosis patients in Indian population
Published on: 8th February, 2019
Venous Thromboembolism (VTE) is a multifactorial disease that is influenced by individual genetic background and various environmental factors, high altitude (HA) being the one. HA exposure may cause release of several damage associated molecular patterns (DAMPs), which act as ligand for various immune receptors. Previous studies on western population involving SNPs analysis of TLRs demonstrated that TLRs are involved in development and progression of several cardiovascular diseases. But, no such study has been done in Indian population in context of HA exposure. TLRs, being receptors play a significant role in manifestation and elimination of diseases by recognition of specific ligands and downstream signal transduction therefore; the genetic variation in TLRs could be implicated for imparting varying response of individuals to discrete diseases.
Therefore, in accordance with it, in present study changes in protein structures of TLR2 and TLR4 due to presence of SNP were accessed by in-silico tools to observe whether the mutation has effect on protein structure and integrity which further influencing its function. The results showed that SNP harbouring protein has decreased functional pockets, thus may be protective for disease. Taking this lead further to genotypic level, first time association between Toll-like receptor genes polymorphism and risk of high altitude induced venous thrombosis is analyzed in Indian population by PCR RFLP method. Though the result showed initial trend that TLR2 and TLR9 SNP are monomrphic in distribution and for TLR4 there was no significant difference in distribution of SNP between healthy and HA-DVT group, these SNPs have potential to be used as susceptibility markers if studied in large population size.
New technique of imaging cellular change to squmous cells metaplsia of cervix
Published on: 7th February, 2019
OCLC Number/Unique Identifier: 8022267562
Flexible magnifying endoscopy with narrow band imaging (ME-NBI) has outstanding diagnostic correctness for gastrointestinal metaplsia and is hope for to be highly useful for imaging stage cervixcal metaplsia beginning by imaging the first stage of metaplasia by imaging single layer of subcolmnar reserve cells reserve cells hyperplasia, the reserve cells are round to cuboid with large oval or round nuclei, seen below the surface columnar cells and the columnar
Zoonotic potential of Giardia lamblia and control of giardiasis
Published on: 7th February, 2019
OCLC Number/Unique Identifier: 8005444774
Giardia is the most common pathogenic intestinal flagellate protozoan in the world. The most studied species is Giardia lamblia (syn. Giardia intestinalis, Giardia duodenalis) that infects mammals, including humans. About the other seven species the scientific literature is very scarce and little is known about its characteristics and epidemiological importance. The exception is Giardia muris species that is frequently used in experimental infection to attempt to understand the parasite-host interaction in G. lamblia infection [1].
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