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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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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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Adrenal Gland Disorders01:27

Adrenal Gland Disorders

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Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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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.
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Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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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...
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Related Experiment Video

Updated: Aug 13, 2025

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
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Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

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Gene Mutations in Cushing's Syndrome.

Utkarsh Ojha1, Innocent Ogunmwonyi2, Jinpo Xiang3

  • 1Royal Brompton & Harefield Hospitals, Uxbridge, UK.

Molecular Syndromology
|January 20, 2023
PubMed
Summary

Cushing

Area of Science:

  • Endocrinology and Molecular Biology

Background:

  • Prolonged glucocorticoid exposure causes Cushing's syndrome.
  • Excess cortisol stems from exogenous steroids, pituitary/adrenal tumors, or ectopic ACTH.

Purpose of the Study:

  • To review recent advancements in understanding the genetic and molecular basis of hypercortisolemia.
  • To explore the implications of these findings for Cushing's syndrome diagnosis and prognosis.

Main Methods:

  • Literature review of genetic and molecular mechanisms in hypercortisolemia.
  • Analysis of signaling pathways implicated in Cushing's syndrome pathophysiology.

Main Results:

  • Significant progress in identifying genetic/molecular drivers of hypercortisolemia.
  • Overlap observed in mutations affecting cAMP/PKA/MAPK and Wnt signaling pathways.
Keywords:
ACTHCushing's syndromeGlucocorticoidsHypercortisolemiaPituitary adenoma

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Conclusions:

  • Specific mutations in Cushing's syndrome require further delineation.
  • Understanding genetic factors may improve early detection and patient prognosis.