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Article
Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort
The current study aimed to explore phenotypic evolution in Fabry disease according to demographics, genotype, specific enzyme activity and pathogenicity scores. We integrated clinical, biochemical, and genomic...
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Article
Elucidation of genetic determinants of dyslipidaemia using a global screening array for the early detection of coronary artery disease
Dyslipidemia is a major risk factor for the development of coronary artery disease (CAD). Understanding the genetic determinants of dyslipidemia can provide valuable information on the pathogenesis of CAD and ...
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Article
Adaptive Neuro-Fuzzy Inference System-Based Exploration of the Interrelationships of 25-Hydroxyvitamin D, Calcium, Phosphorus with Parathyroid Hormone Production
The rationale of the current study was to assess the prevalence of 25-hydroxyvitamin D (25-OHD) deficiency and hyperparathyroidism in South Indian population and to explore interrelationships of 25-OHD, Ca, P ...
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Article
In silico analysis of the structural and functional implications of SLC19A1 R27H polymorphism
In view of the documented association of solute carrier family 19 member 1 (SLC19A1) G80A (R27H) polymorphism with the risk for different types of cancers and systemic lupus erythematosus (SLE), we have reanal...
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Article
Machine learning algorithm-based risk prediction model of coronary artery disease
In view of high mortality associated with coronary artery disease (CAD), development of an early predicting tool will be beneficial in reducing the burden of the disease. The database comprising demographic, c...
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Article
Meta-analysis of genetic polymorphisms in xenobiotic metabolizing enzymes and their association with breast cancer risk
Studies on the association of cytochrome p450 A1 (m1, m2), catechol-O-methyltransferase (COMT) H108L, glutathione S-transferase (GST) T1 and M1 polymorphisms with breast cancer risk were inconclusive. The current...
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Article
Neuro-fuzzy model of homocysteine metabolism
In view of well-documented association of hyperhomocysteinaemia with a wide spectrum of diseases and higher incidence of vitamin deficiencies in Indians, we proposed a mathematical model to forecast the role o...
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Article
Molecular insights into the association of obesity with breast cancer risk: relevance to xenobiotic metabolism and CpG island methylation of tumor suppressor genes
Obesity, genetic polymorphisms of xenobiotic metabolic pathway, hypermethylation of tumor suppressor genes, and hypomethylation of proapoptotic genes are known to be independent risk factors for breast cancer....
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Article
Induction of CYP1A1, CYP1A2, CYP1B1, increased oxidative stress and inflammation in the lung and liver tissues of rats exposed to incense smoke
Incense smoke is increasingly being recognized as a potential environmental contaminant and is linked to malignant and non-malignant respiratory diseases. The detoxification of environmental contaminants inclu...
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Article
The Q192R polymorphism of the paraoxonase 1 gene is a risk factor for coronary artery disease in Saudi subjects
Paraoxonase-1 (PON1) is a HDL-bound antioxidant enzyme that protects LDL from oxidative modification. Discovery of the antioxidant properties of PON1 led to extensive research on its role in the initiation and...
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Article
Adiponectin gene variants and the risk of coronary artery disease in patients with type 2 diabetes
Patients with type 2 diabetes (T2D) are more susceptible to develop cardiovascular complications than non-diabetic subjects. Several studies have indicated a role of adiponectin gene in the increased coronary ...
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Article
Poly A RNA status and expression of milli (m) and micro (μ) calpains in skeletal muscle of duchenne muscular dystrophy patients
Poly A RNA status and itsin vitro translation in a rabbit reticulolysate cell free system, were assessed in the skeletal muscle of young boys with Duchenne muscular dystrophy. Compared to normals there is a signi...
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Article
Analysis of Bcl I and Xba I polymorphism in factor VIII gene to detect carriers of haemophilia a in Andhra Pradesh
The efficacy of two intragenic polymorphic markers of factor VIII gene has been examined in Andhra Pradesh population with a view to confirm/revise the strategy for carrier detection that would be precise and ...
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Article
Expression of the gene for large subunit of m-calpain is elevated in skeletal muscle from Duchenne muscular dystrophy patients
Calpain is an intracellular nonlysosomal protease involved in essential regulatory or processing functions of the cell, mediated by physiological concentrations of Ca2+. However, in an environment of abnormal int...
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Article
Quantitation of endogenous inhibitor of milli-CANP in Duchenne muscular dystrophy platelets and lymphocytes: Its implication in regulation
With a view to gain an insight into the regulation of calcium activated neutral protease by its endogenous inhibitor, the inhibitor was quantitated in platelets and lymphocytes of Duchenne muscular dystrophy p...