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Amino Acid Substitution

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Interaction of Vitamin E Intake and Pro12Ala Polymorphism of PPARG with Adiponectin Levels.

Journal of nutrigenetics and nutrigenomics
BACKGROUND/AIM: One of the beneficial effects associated with vitamin E intake is the enhancement of peroxisome proliferator-activated receptor gamma (PPARγ) activity and the consequent upregulation of adiponectin expression. The aim of this study wa...

Applying an artificial neural network model for developing a severity score for patients with hereditary amyloid polyneuropathy.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
Hereditary (familial) amyloid polyneuropathy (FAP) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (TTR) mutations. So far, a scale designed to classify the severity of this disease has not yet been validate...

Predicting the Effect of Single and Multiple Mutations on Protein Structural Stability.

Molecules (Basel, Switzerland)
Predicting how a point mutation alters a protein's stability can guide pharmaceutical drug design initiatives which aim to counter the effects of serious diseases. Conducting mutagenesis studies in physical proteins can give insights about the effect...

An in-silico method for identifying aggregation rate enhancer and mitigator mutations in proteins.

International journal of biological macromolecules
Newly synthesized polypeptides must pass stringent quality controls in cells to ensure appropriate folding and function. However, mutations, environmental stresses and aging can reduce efficiencies of these controls, leading to accumulation of protei...

A systematic exploration of [Formula: see text] cutoff ranges in machine learning models for protein mutation stability prediction.

Journal of bioinformatics and computational biology
Discerning how a mutation affects the stability of a protein is central to the study of a wide range of diseases. Mutagenesis experiments on physical proteins provide precise insights about the effects of amino acid substitutions, but such studies ar...

Computational and artificial neural network based study of functional SNPs of human LEPR protein associated with reproductive function.

Journal of cellular biochemistry
Genetic polymorphisms are mostly associated with inherited diseases, detecting and analyzing the biological significance of functional single-nucleotide polymorphisms (SNPs) using wet laboratory experiments is an arduous task hence the computational ...

Detection of the BRAF V600E Mutation in Colorectal Cancer by NIR Spectroscopy in Conjunction with Counter Propagation Artificial Neural Network.

Molecules (Basel, Switzerland)
This paper proposes a sensitive, sample preparation-free, rapid, and low-cost method for the detection of the B-rapidly accelerated fibrosarcoma (BRAF) gene mutation involving a substitution of valine to glutamic acid at codon 600 (V600E) in colorect...