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   Articles with "fan1" as a keyword



FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington’s disease

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recommendations! Published in 2021 at "Cell Reports"

DOI: 10.1016/j.celrep.2021.109649

Abstract: Summary CAG repeat expansion in the HTT gene drives Huntington’s disease (HD) pathogenesis and is modulated by DNA damage repair pathways. In this context, the interaction between FAN1, a DNA-structure-specific nuclease, and MLH1, member of… read more here.

Keywords: expansion; fan1; cag repeat; repeat expansion ... See more keywords

Mechanism of trinucleotide repeat expansion by MutSβ-MutLγ and contraction by FAN1

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recommendations! Published in 2025 at "Nature Communications"

DOI: 10.1038/s41467-025-64485-w

Abstract: Triplet repeat expansion underlies multiple pathologies, including Huntington’s disease, often arising in somatic non-dividing tissues such as the brain. Despite identification of genetic modifiers, mechanistic insights remain limited. Using purified human proteins, we show that… read more here.

Keywords: contraction fan1; expansion; fan1; repeat expansion ... See more keywords

Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys

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recommendations! Published in 2023 at "Antioxidants"

DOI: 10.3390/antiox12040900

Abstract: Karyomegalic interstitial nephritis (KIN) is a genetic adult-onset chronic kidney disease (CKD) characterized by genomic instability and mitotic abnormalities in the tubular epithelial cells. KIN is caused by recessive mutations in the FAN1 DNA repair… read more here.

Keywords: deficient kidneys; dna damage; kidney; fan1 ... See more keywords
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Novel Homozygous FAN1 Mutation in a Familial Case of Karyomegalic Interstitial Nephritis

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recommendations! Published in 2020 at "Indian Journal of Nephrology"

DOI: 10.4103/ijn.ijn_278_19

Abstract: Karyomegalic interstitial nephritis (KIN) is a rare genetic kidney disease associated with a mutation in FAN1 gene and is often underdiagnosed. The histomorphology demonstrates chronic interstitial nephritis with tubular epithelial cells showing bizarre enlarged nuclei.… read more here.

Keywords: interstitial nephritis; karyomegalic interstitial; case; nephritis ... See more keywords