Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Background And Objective: Previous germline studies on renal cell carcinoma (RCC) have usually pooled clear and non-clear cell RCCs and have not adequately accounted for population stratification, which might have led to an inaccurate estimation of genetic risk. Here, we aim to analyze the major germline drivers of RCC risk and clinically relevant but underexplored germline variant types.

Methods: We first characterized germline pathogenic variants (PVs), cryptic splice variants, and copy number variants (CNVs) in 1436 unselected RCC patients.

Plasmonic Nanoparticles on Graphene Absorber for Broadband High Responsivity 2D/3D Photodiode.

To overcome the image deterioration caused by pixel miniaturization resulting from the high-resolution trend of CIS (CMOS image sensor) technology, a photodiode working with an enhanced mechanism based on a distinctive device structure from the existing one is considerably required. In this study, our photodiode, consisting of gold nanoparticles/monolayer graphene/n-type trilayer MoS/p-type Si bulk, achieved ultrafast rising/falling times of 28.6 ns/30.

Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.

Cobll1 affects blast crisis (BC) progression and tyrosine kinase inhibitor (TKI) resistance in chronic myeloid leukemia (CML). PACSIN2, a novel Cobll1 binding protein, activates TKI-induced apoptosis in K562 cells, and this activation is suppressed by Cobll1 through the interaction between PACSIN2 and Cobll1. PACSIN2 also binds and inhibits SH3BP1 which activates the downstream Rac1 pathway and induces TKI resistance.

Deciphering the molecular mechanisms of epitranscriptome regulation in cancer.

Post-transcriptional regulation is an indispensable cellular mechanism of gene expression control that dictates various cellular functions and cell fate decisions. Recently, various chemical RNA modifications, termed the "epitranscriptome," have been proposed to play crucial roles in the regulation of post-transcriptional gene expression. To date, more than 170 RNA modifications have been identified in almost all types of RNA.

Association between the IL-6, IL-10, and TNFα gene polymorphisms and preterm-birth in Korean women.

Background: Preterm birth (PTB) is a major adverse pregnancy outcome and largely contributes to increasing neonatal and maternal mortality. Genetic and environmental factors may play an important role in the development of PTB. Numerous studies have shown that immune genes related to the immune system, such as IL-6, IL-10, and TNFα, are associated with the occurrence of PTB.

Diverse molecular functions of mA mRNA modification in cancer.

N-methyladenosine (mA), the most prevalent chemical modification found on eukaryotic mRNA, is associated with almost all stages of mRNA metabolism and influences various human diseases. Recent research has implicated the aberrant regulation of mA mRNA modification in many human cancers. An increasing number of studies have revealed that dysregulation of mA-containing gene expression via the abnormal expression of mA methyltransferases, demethylases, or reader proteins is closely associated with tumorigenicity.

GCA links TRAF6-ULK1-dependent autophagy activation in resistant chronic myeloid leukemia.

Imatinib is the first molecularly targeted compound for chronic myeloid leukemia (CML) capable to inhibit BCR-ABL kinase activity. However, recent clinical evidence indicates that a substantial proportion of CML patients exhibit BCR-ABL-dependent or independent resistance to imatinib. Despite the importance of imatinib resistance in CML, the underlying molecular mechanisms of this resistance are largely unknown.

Assessment of associations between mitochondrial DNA haplogroups and attention deficit and hyperactivity disorder in Korean children.

Attention deficit hyperactivity disorder (ADHD) is a multifactorial disorder with multiple environmental and biological etiologies, including genetic factors. Until now, several genetic variants have been reported to be significantly associated with ADHD. Recently, the relationship between mitochondrial DNA (mtDNA) haplogroups and psychiatric disorders such as schizophrenia has also been reported.

Association of glutathione S-transferase M1 and T1 null/present polymorphism with physical performance in the Korean population.

Human physical performance is a highly complex phenotype that is influenced by various factors. In particular, genetic factors related to muscle fiber type, bone density, muscle performance, and metabolic processes are known to contribute in varying degrees to athlete status and physical performance in various ethnic groups. To investigate the relationship between these genetic factors and physical performances, we genotyped five genetic polymorphisms (ACE Ins/Del, ACTN3 R577X, ER-α C/T, GSTM1 null/present, and GSTT1 null/present) in 111 Korean athletes and 145 controls.

Genetic variations of MTHFR gene and their association with preterm birth in Korean women.

Background And Objective: The MTHFR gene encodes the methylenetetrahydrofolate reductase known to be involved in the homocysteine-methionine pathway. It has been reported that the deficiency of MTHFR activity may cause hyperhomocysteinemia which results in adverse pregnancy outcomes. Previous studies reported a correlation between the MTHFR gene polymorphisms (677 T/C and 1298 A/C) and lower MTHFR activity and its association with preterm birth in various populations.

TRAIP/RNF206 is required for recruitment of RAP80 to sites of DNA damage.

RAP80 localizes to sites of DNA insults to enhance the DNA-damage responses. Here we identify TRAIP/RNF206 as a novel RAP80-interacting protein and find that TRAIP is necessary for translocation of RAP80 to DNA lesions. Depletion of TRAIP results in impaired accumulation of RAP80 and functional downstream partners, including BRCA1, at DNA lesions.

Epigallocatechin-3-O-(3-O-methyl)-gallate-induced differentiation of human keratinocytes involves klotho-mediated regulation of protein kinase-cAMP responsive element-binding protein signaling.

(-)-Epigallocatechin-3-O-gallate (EGCG) has long been known as a potent inducer of keratinocyte differentiation. Although its molecular mechanisms have been extensively studied, its actions on human skin remain to be elucidated. In this study, we demonstrated that methylated EGCG and EGCG increase the expression of klotho, and that klotho functions as a downstream target of EGCG and methylated EGCG in keratinocyte differentiation.

Overexpression of a novel regulator of p120 catenin, NLBP, promotes lung adenocarcinoma proliferation.

NLBP (novel LZAP-binding protein) was recently shown to function as a tumor suppressor capable of inhibiting the NFκB signaling pathway. NLBP is also known as a negative regulator of cell invasion, and its expression is reduced in several cancer cell lines that have little invasive activity. Although these phenomena suggest that NLBP may be a potential tumor suppressor, its role as a tumor suppressor in human lung cancer is not well established.

Cdk1 protein-mediated phosphorylation of receptor-associated protein 80 (RAP80) serine 677 modulates DNA damage-induced G2/M checkpoint and cell survival.

Post-translational phosphorylation plays critical roles in the assembly of signaling and repair proteins in the DNA damage response pathway. RAP80, a component of the BRCA1-A complex, is crucial in cell cycle checkpoint activation and DNA damage repair. However, its molecular mechanism is unclear.

Degradation of human RAP80 is cell cycle regulated by Cdc20 and Cdh1 ubiquitin ligases.

Receptor-associated protein 80 (RAP80) is a component of the BRCA1-A complex that recruits BRCA1 to DNA damage sites in the DNA damage-induced ubiquitin signaling pathway. RAP80-depleted cells showed defective G(2)-M phase checkpoint control. In this study, we show that RAP80 protein levels fluctuate during the cell cycle.

A novel LZAP-binding protein, NLBP, inhibits cell invasion.

LXXLL/leucine zipper-containing alternative reading frame (ARF)-binding protein (LZAP) was recently shown to function as a tumor suppressor through inhibition of the NF-kappaB signaling pathway. LZAP is also known as a negative regulator of cell invasion, and its expression was demonstrated to be reduced in several tumor tissues. However, the molecular mechanism of the negative effect of LZAP on cell invasion is unclear.

Preparation and characterization of biodegradable anti-adhesive membrane for peritoneal wound healing.

Postoperative adhesions remain a significant complication of abdominal surgery although the wide variety of physical barriers has been developed to reduce the incidence of adhesion. In this study, the bilayered composite membrane formed by the association of a methoxy poly (ethylene glycol)-poly (L-lactide-co-glycolide) (mPEG-PLGA) film and a crosslinked collagen-hyaluronic acid (Col-HA) membrane with fibronectin (FN) coating was prepared for promoting wound healing and providing tissue adhesion resistance simultaneously. In vitro adhesion test revealed that fibroblasts attached better on Col-HA membrane compared to those on mPEG-PLGA film, PLGA film or Interceed (oxidized cellulose) while mPEG-PLGA film had the lowest cell adhesive property.