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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Nucleosome Remodeling02:54

Nucleosome Remodeling

Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
Cytoskeletal Linker Proteins - Plakins01:09

Cytoskeletal Linker Proteins - Plakins

Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...

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Related Experiment Video

Updated: May 29, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Molecular defects causing skeletal dysplasias.

Outi Mäkitie1

  • 1Hospital for Children and Adolescents, Pediatric Endocrinology and Metabolic Bone Diseases, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

Endocrine Development
|August 26, 2011
PubMed
Summary

Skeletal dysplasias are diverse genetic disorders. Accurate diagnosis through clinical and radiographic evaluation is crucial for patient care and genetic counseling, despite complex genetic underpinnings.

Area of Science:

  • Genetics
  • Orthopedics
  • Medical Diagnostics

Background:

  • Over 400 distinct skeletal dysplasias exist, each with unique clinical and radiographic presentations.
  • Genetic and molecular causes are identified for many skeletal dysplasias.
  • Accurate diagnosis impacts genetic counseling, treatment, follow-up, and prognosis.

Purpose of the Study:

  • To emphasize the importance of accurate diagnosis in skeletal dysplasias.
  • To highlight the complexities of genotype-phenotype correlations in these conditions.
  • To underscore the necessity of integrated clinical and radiographic assessment.

Main Methods:

  • Review of clinical and radiographic features of skeletal dysplasias.
  • Analysis of known genetic and molecular pathologies.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

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Published on: December 18, 2019

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  • Discussion of genotype-phenotype variability.

    • Main Results:

    • Variable phenotypes can arise from mutations in a single gene.
    • Mutations in different genes can lead to similar skeletal dysplasia phenotypes.
    • Clinical and radiographic assessment remains paramount for diagnosis.

    Conclusions:

    • Precise diagnosis of skeletal dysplasias is essential for effective management.
    • Understanding genetic heterogeneity and phenotypic overlap is key.
    • A comprehensive approach combining clinical expertise and detailed radiographic evaluation is critical for accurate diagnosis.