Search
Now showing items 31-40 of 132
Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy
(Elsevier, 2014)
The idiopathic generalized epilepsy (IGE) is a neurological disorder which accounts for approximately 30% of all epilepsy cases. Patients identified with IGE syndromes have pharmacoresponsive epilepsies without abnormal ...
Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with type 2 diabetes mellitus in a Saudi population
(Humana Press Inc., 2014)
Type 2 diabetes mellitus (T2DM) is a chronic degenerative disease, phenotypically and genetically heterogeneous, characterized by high levels of glucose and metabolic complications. Insulin receptor substrate 1 (IRS-1) ...
BRCA1 mutation spectrum, functions, and therapeutic strategies: The story so far
(Mosby Inc., 2018)
BRCA1 gene mutations account for about 25-28% of hereditary Breast Cancer as BRCA1 is included in the category of high penetrance genes. Except for few commonmutations, there is a heterogenous spectrum of BRCA1 mutations ...
Characterization of a Kunitz-type serine protease inhibitor from Solanum tuberosum having lectin activity
(Elsevier B.V., 2016)
Plant lectins and protease inhibitors constitute a class of proteins which plays a crucial role in plant defense. In our continuing investigations on lectins from plants, we have isolated, purified and characterized a ...
Breast cancer MicroRNAs: Clinical biomarkers for the diagnosis and treatment strategies
(Springer India, 2014)
Breast cancer is the second most common cancer in females that accounts for the highest cancer-specific deaths worldwide. Although recent advances in clinical management significantly reduced the mortality rate in breast ...
A low frequency variant within the GWAS locus of MTNR1B affects fasting glucose concentrations: Genetic risk is modulated by obesity
(2012)
Two common variants (rs1387153, rs10830963) in MTNR1B have been reported to have independent effects on fasting blood glucose (FBG) levels with increased risk to type 2 diabetes (T2D) in recent genome-wide association ...
A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
(2012)
To localize and identify the gene linked with non-syndromic autosomal dominant retinitis pigmentosa (adRP) with high but not complete penetrance in an Indian family. A detailed family history and clinical data were recorded. ...
Alternative pathways for glucose metabolism
(Nova Science Publishers, Inc., 2017)
Glucose metabolism through glycolysis is one of the most fundamental biochemical processes that take place in every living cell. Different enzymes involved in glycolysis are well conserved among different organisms. Pyruvic ...
Chitosan centered bionanocomposites for medical specialty and curative applications: A review
(Elsevier B.V., 2017)
The polyfunctional nature of chitosan enables its application not only in polymer technology but also shows their importance in the field of nanotechnology for the fabrication of the wide spectrum of functional nanomaterials ...
Directory of human genetic services in India - 2007
(2010)
[No abstract available]