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Related Concept Videos

Restarting Stalled Replication Forks02:37

Restarting Stalled Replication Forks

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DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart,...
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Capturing Common Fragile Site Breaks by Native γH2A.X ChIP
09:46

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP

Published on: January 24, 2025

792

IRF6 Sequencing in Interrupted Clefting.

Sanmati R Cuddapah, Selma Kominek, John H Grant

    The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
    |June 20, 2015
    PubMed
    Summary
    This summary is machine-generated.

    Researchers identified a rare form of clefting with a typical cleft lip but intact hard palate and cleft soft palate. Genetic testing for IRF6 mutations was negative in these patients.

    Keywords:
    IRF6genetic testinginterrupted cleft

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    Area of Science:

    • Craniofacial biology
    • Medical genetics

    Background:

    • Cleft lip and palate are common congenital conditions.
    • Interrupted clefting presents unique diagnostic challenges.

    Observation:

    • A retrospective review identified four patients with a rare interrupted clefting pattern.
    • This pattern included typical cleft lip, intact hard palate, and cleft soft palate.

    Findings:

    • Genetic analysis, specifically IRF6 sequencing, was performed on these patients.
    • No mutations in the IRF6 gene were found in any of the four patients.

    Implications:

    • This suggests novel genetic factors may be involved in this specific type of interrupted clefting.
    • Advances in genetic testing may facilitate the identification of new causative mutations.