Tag: DNA repair

Helicase

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Helicases are ATP-dependent molecular machines that unwind and remodel DNA and RNA. Explore their functions in DNA replication, repair, recombination, transcription, RNA metabolism, genetics, disease, and biotechnology.

Repeat Expansion Mutation

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Repeat expansions are genetic mutations in which repeated DNA sequences increase in length. Learn about their types, causes, genetic instability, anticipation, associated disorders, diagnosis, and molecular effects.

Insertion and Deletion Mutation (Indels)

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Insertions and deletions, or indels, are genetic changes involving added or removed DNA nucleotides. Learn how they cause frameshift and in-frame mutations and affect genes, proteins, genetic disorders, and cancer.

Causes of Genetic Disorders

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Genetic disorders can result from DNA mutations, chromosome abnormalities, inherited variants, de novo mutations, mitochondrial changes, epigenetic mechanisms, and interactions between genes and the environment.

Ligases

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Ligases are enzymes that join DNA, RNA, and other biological molecules by forming new chemical bonds. Explore their roles in DNA replication, repair, recombination, genetics, molecular cloning, diagnostics, and biotechnology.

Mutation

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Mutations are changes in DNA sequence that can influence genes, genetic variation, disease, and evolution. Learn about substitutions, insertions, deletions, frameshift mutations, somatic and germline mutations, DNA repair, cancer mutations, and genome stability.

Protein ADP-Ribosylation

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Protein ADP-ribosylation is an important post-translational modification that uses NAD+ to regulate proteins and cellular pathways. Explore mono- and poly-ADP-ribosylation, PARP enzymes, DNA repair, chromatin regulation, cancer, metabolism, inflammation, and cell death.

Protein SUMOylation

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Protein SUMOylation is an important post-translational modification that regulates protein activity, localization, stability, molecular interactions, gene expression, DNA repair, and cellular stress responses. Learn about SUMO proteins, Ubc9, SUMO ligases, SENPs, SUMO–ubiquitin crosstalk, and SUMO proteomics.

DNA Damage Response

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The DNA damage response is a cellular defense system that detects DNA damage, coordinates repair, regulates cell-cycle checkpoints, and protects the stability of the genome.

ATM

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ATM is a key protein kinase in the DNA damage response. Discover how it detects DNA double-strand breaks, activates signaling pathways, regulates the cell cycle, and helps maintain genome stability.

ATR

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ATR is a key protein kinase that protects cells from replication stress and DNA damage. Explore how ATR detects single-stranded DNA, stabilizes replication forks, activates CHK1, and maintains genome stability.

BRCA1

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BRCA1 is a central tumour‑suppressor protein that regulates homologous recombination, DNA end resection and checkpoint signalling. By coordinating high‑fidelity DNA repair and protecting replication forks, BRCA1 maintains genome stability and prevents oncogenic transformation.

NBS1

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NBS1, also known as nibrin or NBN, is the regulatory subunit of the MRN complex, the master sensor of DNA…

RAD50

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RAD50 is the structural architect of the MRN complex and an essential stabiliser of DNA double‑strand breaks. Through ATP‑dependent conformational changes and zinc‑hook‑mediated DNA tethering, RAD50 coordinates MRE11 and NBS1 to ensure accurate DNA repair and maintain genome stability.

MRE11

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MRE11 is the core nuclease of the MRN complex and a master regulator of DNA double‑strand break repair. By initiating DNA end resection, activating ATM signalling and stabilising damaged chromosomes, MRE11 plays a central role in maintaining genome stability and preventing chromosomal instability.

Helicase

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Helicases are ATP-dependent molecular machines that unwind and remodel DNA and RNA. Explore their functions in DNA replication, repair, recombination, transcription, RNA metabolism, genetics, disease, and biotechnology.

Repeat Expansion Mutation

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Repeat expansions are genetic mutations in which repeated DNA sequences increase in length. Learn about their types, causes, genetic instability, anticipation, associated disorders, diagnosis, and molecular effects.

Insertion and Deletion Mutation (Indels)

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Insertions and deletions, or indels, are genetic changes involving added or removed DNA nucleotides. Learn how they cause frameshift and in-frame mutations and affect genes, proteins, genetic disorders, and cancer.

Causes of Genetic Disorders

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Genetic disorders can result from DNA mutations, chromosome abnormalities, inherited variants, de novo mutations, mitochondrial changes, epigenetic mechanisms, and interactions between genes and the environment.

Ligases

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Ligases are enzymes that join DNA, RNA, and other biological molecules by forming new chemical bonds. Explore their roles in DNA replication, repair, recombination, genetics, molecular cloning, diagnostics, and biotechnology.

Mutation

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Mutations are changes in DNA sequence that can influence genes, genetic variation, disease, and evolution. Learn about substitutions, insertions, deletions, frameshift mutations, somatic and germline mutations, DNA repair, cancer mutations, and genome stability.

Protein ADP-Ribosylation

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Protein ADP-ribosylation is an important post-translational modification that uses NAD+ to regulate proteins and cellular pathways. Explore mono- and poly-ADP-ribosylation, PARP enzymes, DNA repair, chromatin regulation, cancer, metabolism, inflammation, and cell death.

Protein SUMOylation

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Protein SUMOylation is an important post-translational modification that regulates protein activity, localization, stability, molecular interactions, gene expression, DNA repair, and cellular stress responses. Learn about SUMO proteins, Ubc9, SUMO ligases, SENPs, SUMO–ubiquitin crosstalk, and SUMO proteomics.

DNA Damage Response

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The DNA damage response is a cellular defense system that detects DNA damage, coordinates repair, regulates cell-cycle checkpoints, and protects the stability of the genome.

ATM

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ATM is a key protein kinase in the DNA damage response. Discover how it detects DNA double-strand breaks, activates signaling pathways, regulates the cell cycle, and helps maintain genome stability.

ATR

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ATR is a key protein kinase that protects cells from replication stress and DNA damage. Explore how ATR detects single-stranded DNA, stabilizes replication forks, activates CHK1, and maintains genome stability.

BRCA1

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BRCA1 is a central tumour‑suppressor protein that regulates homologous recombination, DNA end resection and checkpoint signalling. By coordinating high‑fidelity DNA repair and protecting replication forks, BRCA1 maintains genome stability and prevents oncogenic transformation.

NBS1

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NBS1, also known as nibrin or NBN, is the regulatory subunit of the MRN complex, the master sensor of DNA…

RAD50

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RAD50 is the structural architect of the MRN complex and an essential stabiliser of DNA double‑strand breaks. Through ATP‑dependent conformational changes and zinc‑hook‑mediated DNA tethering, RAD50 coordinates MRE11 and NBS1 to ensure accurate DNA repair and maintain genome stability.

MRE11

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MRE11 is the core nuclease of the MRN complex and a master regulator of DNA double‑strand break repair. By initiating DNA end resection, activating ATM signalling and stabilising damaged chromosomes, MRE11 plays a central role in maintaining genome stability and preventing chromosomal instability.