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RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy

Journal of neurology, 2021-11, Vol.268 (11), p.4280-4290

2021

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Xanthohumol regulates miR-4749-5p-inhibited RFC2 signaling in enhancing temozolomide cytotoxicity to glioblastoma

Life sciences (1973), 2020-08, Vol.254, p.117807-10, Article 117807

2020

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Structure of the human clamp loader reveals an autoinhibited conformation of a substrate-bound AAA+ switch

Proceedings of the National Academy of Sciences - PNAS, 2020-09, Vol.117 (38), p.23571-23580

2020

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Hepatitis B virus cccDNA is formed through distinct repair processes of each strand

Nature communications, 2021-03, Vol.12 (1), p.1591-1591, Article 1591

2021

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Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

American journal of human genetics, 2024-09, Vol.111 (9), p.1970-1993

2024

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Division of Labor between PCNA Loaders in DNA Replication and Sister Chromatid Cohesion Establishment

Molecular cell, 2020-05, Vol.78 (4), p.725-738.e4

2020

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Mechanisms of loading and release of the 9-1-1 checkpoint clamp

Nature structural & molecular biology, 2022-04, Vol.29 (4), p.369-375

2022

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RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

Journal of human genetics, 2020-12, Vol.65 (12), p.1143-1147

2020

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Regulation of the MLH1–MLH3 endonuclease in meiosis

Nature (London), 2020-10, Vol.586 (7830), p.618-622

2020

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Cryo-EM structures reveal high-resolution mechanism of a DNA polymerase sliding clamp loader

eLife, 2022-02, Vol.11

2022

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Mechanism of PCNA loading by Ctf18-RFC for leading-strand DNA synthesis

Science (American Association for the Advancement of Science), 2024-08, Vol.385 (6708), p.eadk5901-eadk5901

2024

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RFC5, regulated by circ_0038985/miR‐3614‐5p, functions as an oncogene in the progression of colorectal cancer

Molecular carcinogenesis, 2023-06, Vol.62 (6), p.771-785

2023

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Core components of DNA lagging strand synthesis machinery are essential for hepatitis B virus cccDNA formation

Nature microbiology, 2020-05, Vol.5 (5), p.715-726

2020

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Arabidopsis replication factor C4 is critical for DNA replication during the mitotic cell cycle

The Plant journal : for cell and molecular biology, 2018-04, Vol.94 (2), p.288-303

2018

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CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions

Journal of neurology, 2021-03, Vol.268 (3), p.1119-1126

2021

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XLF and H2AX function in series to promote replication fork stability

The Journal of cell biology, 2019-07, Vol.218 (7), p.2113-2123

2019

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Unexpected new insights into DNA clamp loaders: Eukaryotic clamp loaders contain a second DNA site for recessed 5′ ends that facilitates repair and signals DNA damage

BioEssays, 2022-11, Vol.44 (11)

2022

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RFC2: a prognosis biomarker correlated with the immune signature in diffuse lower-grade gliomas

Scientific reports, 2022-02, Vol.12 (1), p.3122-3122, Article 3122

2022

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Identification of Elg1 interaction partners and effects on post-replication chromatin re-formation

PLoS genetics, 2018-11, Vol.14 (11), p.e1007783-e1007783

2018

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Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia

Clinical genetics, 2021-07, Vol.100 (1), p.90-94

2021

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Coordinated protein and DNA remodeling by human HLTF on stalled replication fork

Proceedings of the National Academy of Sciences - PNAS, 2011-08, Vol.108 (34), p.14073-14078

2011

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Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1

Journal of allergy and clinical immunology, 2020-01, Vol.145 (1), p.391-401.e8

2020

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Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome

European journal of neurology, 2023-12, Vol.30 (12), p.3834-3841

2023

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Association of biallelic RFC1 expansion with early‐onset Parkinson's disease

European journal of neurology, 2023-05, Vol.30 (5), p.1256-1261

2023

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RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy

Xanthohumol regulates miR-4749-5p-inhibited RFC2 signaling in enhancing temozolomide cytotoxicity to glioblastoma

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Structure of the human clamp loader reveals an autoinhibited conformation of a substrate-bound AAA+ switch

Hepatitis B virus cccDNA is formed through distinct repair processes of each strand

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

Division of Labor between PCNA Loaders in DNA Replication and Sister Chromatid Cohesion Establishment

Mechanisms of loading and release of the 9-1-1 checkpoint clamp

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

Regulation of the MLH1–MLH3 endonuclease in meiosis

Cryo-EM structures reveal high-resolution mechanism of a DNA polymerase sliding clamp loader

Mechanism of PCNA loading by Ctf18-RFC for leading-strand DNA synthesis

RFC5, regulated by circ_0038985/miR‐3614‐5p, functions as an oncogene in the progression of colorectal cancer

Core components of DNA lagging strand synthesis machinery are essential for hepatitis B virus cccDNA formation

Arabidopsis replication factor C4 is critical for DNA replication during the mitotic cell cycle

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions

XLF and H2AX function in series to promote replication fork stability

Unexpected new insights into DNA clamp loaders: Eukaryotic clamp loaders contain a second DNA site for recessed 5′ ends that facilitates repair and signals DNA damage

RFC2: a prognosis biomarker correlated with the immune signature in diffuse lower-grade gliomas

Identification of Elg1 interaction partners and effects on post-replication chromatin re-formation

Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia

Coordinated protein and DNA remodeling by human HLTF on stalled replication fork

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1

Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome

Association of biallelic RFC1 expansion with early‐onset Parkinson's disease

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