Associated Papers
Insights into DNA repeat expansions among 900,000 biobank participants.
Hujoel MLA et al.
Nature, 2026
Huntington disease: somatic expansion, pathobiology and therapeutics.
Donaldson J et al.
Nature Reviews. Neurology, 2026
Mechanism of trinucleotide repeat expansion by MutSβ-MutLγ and contraction by FAN1.
Senoussi I et al.
Nature Communications, 2025
A FAN1 point mutation associated with accelerated Huntington's disease progression alters its PCNA-mediated assembly on DNA.
Aretz J et al.
Nature Communications, 2025
Structural and molecular basis of PCNA-activated FAN1 nuclease function in DNA repair.
Li F et al.
Nature Communications, 2025
A retrospective single-center pilot study of the genetic background of the transplanted kidney.
Novotna A et al.
Plos One, 2025
Structural and molecular basis of FAN1 defects in promoting Huntington's disease.
Li F et al.
Biorxiv : the Preprint Server for Biology, 2024
Two Distinct Deleterious Causative Variants in a Family with Multiple Cancer-Affected Patients.
Khorram E et al.
Advanced Biomedical Research, 2023
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B et al.
Nature Neuroscience, 2022
FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability.
Deshmukh AL et al.
Cell Reports, 2021
FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease.
Goold R et al.
Cell Reports, 2021
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.
Deshmukh AL et al.
Journal of Huntington's Disease, 2021
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Dámaso E et al.
Cancers, 2020
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Kim KH et al.
American Journal of Human Genetics, 2020
FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat.
Goold R et al.
Human Molecular Genetics, 2019
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L et al.
Science (new York, N.y.), 2018
A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.
Chandler MR et al.
Human Mutation, 2016
Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.
Ionita-Laza I et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer.
Park DJ et al.
Breast Cancer Research and Treatment, 2011