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Related Concept Videos

Role of Skin in Vitamin D Synthesis01:23

Role of Skin in Vitamin D Synthesis

The skin plays a crucial role in the synthesis of vitamin D, a vital nutrient for various physiological processes in the body. Vitamin D is unique because it can be synthesized in the skin through a series of chemical reactions triggered by exposure to ultraviolet B (UVB) radiation from sunlight.
The solar UV B rays (290-315 nm) are absorbed by the skin, and 7-dehydrocholesterol (provitamin D3) photolyzes it to previtamin D3, which undergoes a rapid transformation to vitamin D3(cholecalciferol).
Role of Vitamins in Maintaining Bone Health01:25

Role of Vitamins in Maintaining Bone Health

The growth and maintenance of bone are regulated by a combination of nutritional factors, including vitamins, such as vitamin A, B12, C, D, and K.
Vitamin A
Vitamin A is involved in the process of bone remodeling. Retinoic acid, the active metabolite of Vitamin A, has nuclear receptors in osteoblasts and osteoclasts, which are involved in bone remodeling.
Vitamin B12
Vitamin B12 acts as a cofactor during the formation of osteoblast-related proteins, such as osteocalcin. Vitamin B12 plays a role...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...

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Updated: Jul 14, 2026

Methodology for Studying Interactions of Vitamin A Membrane Receptors and Opsin Protein with their Ligands in Generating the Retinylidene Protein
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Methodology for Studying Interactions of Vitamin A Membrane Receptors and Opsin Protein with their Ligands in Generating the Retinylidene Protein

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Vitamin D receptor polymorphism in nutritional rickets.

Abdullah Bereket1

  • 1Marmara University, Division of Pediatric Endocrinology, Istanbul, Turkey. abereket@e-kolay.net

Pediatric Endocrinology Reviews : PER
|January 30, 2008
PubMed
Summary

Rickets remains prevalent globally, even in sunny regions, due to complex factors beyond simple vitamin D deficiency. Genetic variations, like Vitamin D Receptor gene polymorphisms, may influence individual susceptibility to developing this bone disorder.

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Methodology for Studying Interactions of Vitamin A Membrane Receptors and Opsin Protein with their Ligands in Generating the Retinylidene Protein
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Published on: December 9, 2015

Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Rickets pathophysiology, particularly the role of Vitamin D, has been known since the 1920s.
  • Despite this knowledge, rickets persists, especially in sunny climates.
  • Rickets is increasingly recognized as a heterogeneous disorder potentially caused by vitamin D and/or calcium deficiency.

Purpose of the Study:

  • To explore the reasons behind the continued prevalence of rickets.
  • To investigate the potential role of individual susceptibility in rickets development.
  • To examine the association between Vitamin D Receptor (VDR) gene polymorphisms and rickets.

Main Methods:

  • Analysis of serum 25 and 1,25 OH vitamin D levels in children with rickets.
  • Observation of variable responses to rickets treatment.
  • Review of existing literature on VDR gene polymorphisms and bone mineral density.

Main Results:

  • Serum vitamin D levels and treatment responses in rickets patients show significant variation.
  • These variations suggest a role for individual susceptibility in rickets.
  • Limited data currently exists on the specific impact of VDR gene polymorphisms on rickets development.

Conclusions:

  • The heterogeneity of rickets necessitates further investigation into contributing factors.
  • Individual genetic factors, such as VDR gene polymorphisms, may play a role in rickets susceptibility.
  • More research is needed to understand the genetic underpinnings of rickets.