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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Type IV Collagen of Basal Lamina01:05

Type IV Collagen of Basal Lamina

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Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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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.
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Bone Disorders01:29

Bone Disorders

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Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
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Related Experiment Video

Updated: Jan 9, 2026

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

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Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.

Vaishnavi Ashok Badiger1, Sheela Nampoothiri2, Meher Mounika Vangara1

  • 1Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

American Journal of Medical Genetics. Part A
|December 9, 2025
PubMed
Summary

Osteogenesis imperfecta type VI, a rare genetic disorder, is caused by mutations in the SERPINF1 gene. This study identifies compound heterozygous variants in SERPINF1, leading to reduced gene expression and protein levels in affected individuals.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatric Orthopedics

Background:

  • Osteogenesis imperfecta type VI (OI VI) is a rare genetic disorder.
Keywords:
SERPINF1bone mineralizationgenome sequencingosteogenesis imperfecta VIosteopenia

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  • It is characterized by severe osteopenia, recurrent fractures, and skeletal deformities.
  • OI VI is caused by biallelic pathogenic variants in the SERPINF1 gene.