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Article
Open AccessHeat shock protein DNAJA2 regulates transcription-coupled repair by triggering CSB degradation via chaperone-mediated autophagy
Transcription-coupled nucleotide excision repair (TC-NER) is an important genome maintenance system that preferentially removes DNA lesions on the transcribed strand of actively transcribed genes, including no...
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Article
Open AccessDNAJA2 deficiency activates cGAS-STING pathway via the induction of aberrant mitosis and chromosome instability
Molecular chaperone HSP70s are attractive targets for cancer therapy, but their substrate broadness and functional non-specificity have limited their role in therapeutical success. Functioning as HSP70’s cocha...
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Article
Open AccessA Cohort Study on Deficiency of ADA2 from China
Deficiency of adenosine deaminase 2 (DADA2), an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-function variants in adenosine deaminase 2 (ADA2), has not been systemically investigat...
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Article
Responsible genes in children with primary vesicoureteral reflux: findings from the Chinese Children Genetic Kidney Disease Database
Primary vesicoureteral reflux (VUR) is a common congenital anomaly of the kidney and urinary tract (CAKUT) in childhood. The present study identified the possible genetic contributions to primary VUR in children.
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Article
Open AccessMIF is a 3’ flap nuclease that facilitates DNA replication and promotes tumor growth
How cancer cells cope with high levels of replication stress during rapid proliferation is currently unclear. Here, we show that macrophage migration inhibitory factor (MIF) is a 3’ flap nuclease that transloc...
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Article
Open AccessMispair-bound human MutS–MutL complex triggers DNA incisions and activates mismatch repair
DNA mismatch repair (MMR) relies on MutS and MutL ATPases for mismatch recognition and strand-specific nuclease recruitment to remove mispaired bases in daughter strands. However, whether the MutS–MutL complex...
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Article
Open AccessAuthor Correction: Identification of novel genetic variants predisposing to familial oral squamous cell carcinomas
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessCorrection to: DNA mismatch repair in the context of chromatin
An amendment to this paper has been published and can be accessed via the original article.
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Article
Open AccessPhenotypic variability in a child with Felty’s syndrome: a case report
Felty’s syndrome (FS) is characterized by the triad of rheumatoid arthritis (RA), splenomegaly and neutropenia. The arthritis is typically severe and virtually always associated with high-titer rheumatoid fact...
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Article
Open AccessDNA mismatch repair in the context of chromatin
DNA mismatch repair (MMR) maintains replication fidelity by correcting mispaired nucleotides incorporated by DNA polymerases. Defects in MMR lead to cancers characterized by microsatellite instability. Recentl...
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Article
Open AccessIdentification of novel genetic variants predisposing to familial oral squamous cell carcinomas
Oral squamous cell carcinoma (OSCC) is a common subtype of head and neck squamous cell carcinoma (HNSCC), but the pathogenesis underlying familial OSCCs is unknown. Here, we analyzed whole-genome sequences of ...
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Article
Open AccessExpanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report
The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two u...
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Article
Influences of an NR1I2 polymorphism on heterogeneous antiplatelet reactivity responses to clopidogrel and clinical outcomes in acute ischemic stroke patients
Pregnane X receptor (PXR) is a member of nuclear receptor subfamily 1 (NR1I2) that is a transcriptional regulator of several metabolic enzymes involved in clopidogrel metabolism. In this study we identified and e...
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Article
Synthesis and AO Resistant Properties of Novel Polyimide Fibers Containing Phenylphosphine Oxide Groups in Main Chain
A series of co-polyimide (PI) fibers containing phenylphosphine oxide (PPO) group were synthesized by incorporating the bis(4-aminophenoxy) phenyl phosphine oxide (DAPOPPO) monomer into the PI molecular chain ...
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Article
Open AccessGene mutation analysis in 12 Chinese children with congenital nephrotic syndrome
Congenital nephrotic syndrome (CNS) is characterised by increased proteinuria, hypoproteinemia, and edema beginning in the first 3 months of life. Recently, molecular genetic studies have identified several ge...
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Article
Direct electrodeposition of ionic liquid-based template-free SnCo alloy nanowires as an anode for Li-ion batteries
SnCo alloy nanowires were successfully electrodeposited from SnCl2−CoCl2−1-ethyl-3-methylimidazolium chloride (EMIC) ionic liquid without a template. The nanowires were obtained from the molar ratio of 5:40:60 fo...
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Article
A human MUTYH variant linking colonic polyposis to redox degradation of the [4Fe4S]2+ cluster
The human DNA repair enzyme MUTYH excises mispaired adenine residues in oxidized DNA. Homozygous MUTYH mutations underlie the autosomal, recessive cancer syndrome MUTYH-associated polyposis. We report a MUTYH var...
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Article
ARID1A deficiency promotes mutability and potentiates therapeutic antitumor immunity unleashed by immune checkpoint blockade
ARID1A (the AT-rich interaction domain 1A, also known as BAF250a) is one of the most commonly mutated genes in cancer1,2. The majority of ARID1A mutations are inactivating mutations and lead to loss of ARID1A exp...
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Reference Work Entry In depth
Mismatch Repair
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Article
DNA mismatch repair in trinucleotide repeat instability
Trinucleotide repeat expansions cause over 30 severe neuromuscular and neurodegenerative disorders, including Huntington’s disease, myotonic dystrophy type 1, and fragile X syndrome. Although previous studies ...
