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Related Concept Videos

Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

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Related Experiment Video

Updated: Jul 5, 2026

In Vivo Inhibition of MicroRNA to Decrease Tumor Growth in Mice
07:02

In Vivo Inhibition of MicroRNA to Decrease Tumor Growth in Mice

Published on: August 23, 2019

Intragenic mutations in thyroid cancer.

Manuel Sobrinho-Simões1, Valdemar Máximo, Ana Sofia Rocha

  • 1Institute of Molecular Pathology and Immunology of the University of Porto, Rua Roberto Frias s/n, 4200-465 Porto, Portugal.

Endocrinology and Metabolism Clinics of North America
|May 27, 2008
PubMed
Summary
This summary is machine-generated.

This study explores genetic mutations in thyroid cancer, linking specific gene alterations to tumor types and characteristics. Understanding these genotype-phenotype correlations aids in diagnosing and potentially treating thyroid malignancies.

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Spontaneous Murine Model of Anaplastic Thyroid Cancer

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Thyroid cancer exhibits a strong correlation between genetic makeup (genotype) and observable traits (phenotype).
  • Intragenic mutations play a crucial role in the development and progression of various thyroid tumor types.

Purpose of the Study:

  • To comprehensively review intragenic mutations in thyroid cancer using a combined genetic and phenotypic approach.
  • To correlate specific genetic alterations with distinct thyroid tumor subtypes and clinical behaviors.

Main Methods:

  • Review of intragenic mutations across different thyroid cancer types.
  • Analysis of genetic alterations including point mutations, rearrangements, and aneuploidy.
  • Correlation of genetic findings with phenotypic characteristics of thyroid tumors.

Main Results:

  • Specific mutations identified in thyroid stimulating hormone receptor and G-proteins in hyperfunctioning tumors.
  • RAS mutations, aneuploidy, PAX8-PPARgamma rearrangements, and BRAF mutations are implicated in thyroid tumorigenesis.
  • Alterations in oxidative phosphorylation, Krebs cycle, and succinate dehydrogenase genes are noted in Hürthle cell tumors and medullary carcinoma.
  • TP53 and other gene mutations are associated with poorly differentiated and anaplastic carcinomas.

Conclusions:

  • The genotype-phenotype relationship is central to understanding thyroid oncology.
  • Identifying specific intragenic mutations provides insights into thyroid cancer pathogenesis and classification.
  • This genetic landscape analysis is essential for advancing thyroid cancer diagnosis and therapeutic strategies.