Variant pairs have an indispensable function on mechanical properties such as low impact toughness. Therefore, it was assumed that they would also affect the HER (Hole Expansion Ratio, an indicator to evaluate stretch flanging performance). To clarif...
The mixed structure of lath bainite and martensite was obtained by isothermal transformation tests at 698 K, 673 K and 623 K in ultra-high-strength steel. The interweaving mode of lath bainite and martensite was revealed by colored metallography and...
SARS-CoV-2 remains a severe threat to worldwide public health, particularly as the virus continues to evolve and diversify into variants of concern (VOCs). Among these VOCs, Omicron variants exhibit unique phenotypic traits, such as immune evasion, t...
Background/Objectives: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by pathogenic variants in the adenomatous polyposis coli (APC) gene. Its attenuated form (AFAP) is characterized by fewer colorectal polyps and later...
Anatomical variants are observed on paired body sides, yet many prevalence studies—particularly those based on osteological collections—report only right- and left-side frequencies without specifying whether findings occur bilaterally in...
Boneh et al. introduced mediated RSA (mRSA) in 2001 in an attempt to achieve faster key revocation for medium-sized organizations via the involvement of a security mediator (SEM) as a semi-trusted third party to provide partial ciphertext decryption...
The SARS-CoV-2 Delta variant is emerging as a globally dominant strain. Its rapid spread and high infection rate are attributed to a mutation in the spike protein of SARS-CoV-2 allowing for the virus to invade human cells much faster and with an incr...
Some genetic diseases (“digenic traits”) are due to the interaction between two DNA variants, which presumably reflects biochemical interactions. For example, certain forms of Retinitis Pigmentosa, a type of blindness, occur in the presence of two mu...
(1) Background: Mutations in NFκB1, a transcriptional regulator of immunomodulating proteins, are a known cause of inborn errors of immunity. Our proband is a 22-year-old male with a diagnosis of common variable immunodeficiency (CVID), cytopen...
High hardenability is of great importance to ultra-heavy steel plates and can be achieved by tailoring the composition of steel. In this study, the continuous cooling transformation (CCT) curves of two high-strength low-alloy (HSLA) steels (0.16C-0.9...
The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. During eye development, it is essential for the correct patterning and formation of the multi-layered optic cup and it...
Catalysis fulfills the promise that high-yielding chemical transformations will require little energy and produce no toxic waste. This message is carried by the study of the evolution of molecular catalysis of some of the most important reactions in...
The microstructure and impact toughness in an ultra-high-strength casing were investigated, attempting to reveal the reason for toughness fluctuations along the casing in terms of crystallography. The morphological structures at the head of the casin...
A Fe-30.5wt%Ni-0.155wt%C alloy was annealed at two different temperatures to produce two different austenite grain sizes. In the coarse-grained specimen, hierarchical configurations of variants are formed and carefully analyzed using EBSD. These typi...
Background: The synonymous variant NC_000007.14:g.100373690T>C (rs2405442:T>C) in the Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA) gene was previously associated with decreased risk for Alzheimer’s disease (AD) in genome-wide...
MicroRNAs (or miRNAs) are short nucleotide sequences (~17–22 bp long) that play important roles in gene regulation through targeting genes in the 3′untranslated regions (UTRs). Variants located in genomic regions might have different biol...
Background: Hereditary cancer predisposition syndromes show a high risk of cancer development with germline pathogenic variants. Organ-specific surveillance has been recommended according to the causative gene. However, even among carriers of the sam...
One of the main goals of human genetics is to understand the connections between genomic variation and the predisposition to develop a complex disorder. These disease–variant associations are usually studied in a single independent manner, disr...
We studied genomic alterations in 19 inflammatory breast cancer (IBC) patients with advanced disease using samples of tissue and paired blood serum or plasma (cell-free DNA, cfDNA) by targeted next generation sequencing (NGS). At diagnosis, the disea...
Sporadic Alzheimer’s disease (AD) is a polygenic neurodegenerative disorder. Single-nucleotide polymorphisms (SNPs) in multiple genes (e.g., CLU and ABCA7) have been associated with AD. However, none of them were characterized as causal variant...
Pairs of related bladder cancer cases who belong to pedigrees with an excess of bladder cancer were sequenced to identify rare, shared variants as candidate predisposition variants. Candidate variants were tested for association with bladder cancer r...
A modified carbide-free bainite (CFB) steel has been developed, building on existing alloys for compatibility with commercial continuous annealing lines (CALs), featuring a low austenitization temperature and short overaging time. The microstructural...
Finding changed and similar functions between a pair of binaries is an important problem in malware attribution and for the identification of new malware capabilities. This paper presents a new technique called Function Similarity using Family Contex...
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with almost 3000 different disease-causing variants within the NF1 gene identified. Up to 44% of these variants cause splicing errors to occur within pre-mRNA. A recurrent varia...
Purpose: Triple-negative breast cancer (TNBC) is a molecularly complex and heterogeneous breast cancer subtype with distinct biological features and clinical behavior. Although TNBC is associated with an increased risk of metastasis and recurrence, t...
A crystallographic analysis was conducted of the upper bainite nucleated at the austenite grain boundary in Fe-0.6C-0.8Mn-1.8Si (in mass %) steel by the EBSD analysis. The effect of the character of the prior austenite grain boundary (PAGB) on the fo...
The omicron variant (B.1.1.529) of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was the predominant variant in South Korea from late January 2022. In this study, we aimed to report the early estimates of the serial interval distributi...
The SARS-CoV-2 Omicron variants show different behavior compared to the previous variants, especially with respect to the Delta variant, which promotes a lower morbidity despite being much more contagious. In this perspective, we performed molecular...
There is evidence for contribution of inherited factors to prostate cancer, and more specifically to lethal prostate cancer, but few responsible genes/variants have been identified. We examined genetic sequence data for 51 affected cousin pairs who e...
Breast cancer (BC) is the second leading cause of death in women. BC patients with family history or clinical features suggestive of inherited predisposition are candidate to genetic testing to determine whether a hereditary cancer syndrome is presen...
Despite advances in treatment, prognosis for most patients with high-grade serous carcinoma (HGSC) remains poor. Genomic alterations in the homologous recombination (HR) pathway are used for cancer risk assessment and render tumours sensitive to plat...
This study presents an analysis of RePair, which is a grammar compression algorithm known for its simple scheme, while also being practically effective. First, we show that the main process of RePair, that is, the step by step substitution of the mos...
A significant fraction of breast cancer recurs, with lethal outcome, but specific genetic variants responsible have yet to be identified. Five cousin pairs with recurrent breast cancer from pedigrees with a statistical excess of recurrent breast canc...
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both couns...
The identification of anticancer therapies using next-generation sequencing (NGS) is necessary for the treatment of cholangiocarcinoma. NGS can be easily performed when cell blocks (CB) are obtained from bile stored overnight. We compared NGS results...
OMICS methods brought significant advancements to the understanding of tumor cell biology, which transformed the treatment and prognosis of several cancers. Clinical practice and outcomes, however, changed significantly less in the case of glioblasto...
To identify potential genetic causes for Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), we analyzed blood and rudimentary uterine tissue of 5 MRKH discordant monozygotic twin pairs. Assuming that a variant solely identified in the affected twin...
Congenital heart disease (CHD) and palatal anomalies (PA), are among the most common characteristics of 22q11.2 deletion syndrome (22q11.2DS), but they show incomplete penetrance, suggesting the presence of additional factors. The 22q11.2 deleted reg...
Synonymous variants within coding regions may influence protein expression and function. We have previously reported increased protein expression levels ex vivo (~120% in comparison to wild-type) from a synonymous polymorphism variant, c.354G>A [p...
Identifying anti-spike antibodies that exhibit strong neutralizing activity against current dominant circulating variants, and antibodies that are escaped by these variants, has important implications in the development of therapeutic and diagnostic...
Background/Objectives: How the histologically benign tier of lung preinvasive lesions—atypical adenomatous hyperplasia (AAH) and squamous dysplasia (SD)—relates genomically to its paired carcinoma is unclear. To identify early versus late...
The rapid emergence of new severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants has resulted in the ongoing global coronavirus disease 2019 (COVID-19) pandemic. Thus, the rapid development of a platform to detect a broad range of SAR...
Genetic code expansion has largely focused on the reassignment of amber stop codons to insert single copies of non-canonical amino acids (ncAAs) into proteins. Increasing effort has been directed at employing the set of aminoacyl tRNA synthetase (aaR...
The COVID-19 pandemic has been a major public health event since 2020. Multiple variant strains of SARS-CoV-2, the causative agent of COVID-19, were detected based on the mutation sites in their sequences. These sequence mutations may lead to changes...
Genome editing provides novel opportunities for the precise genome engineering of diverse organisms. Significant progress has been made in the development of genome-editing tools for Bombyx mori (B. mori) in recent years. Among these, CRISPR/Cas9, wh...
Clinical annotations for the actionable pharmacogenetic variants affecting the efficacy of cardiovascular drugs have been collected, yet their impacts on elderly patients with coronary artery disease (CAD) undergoing polypharmacy remain uncertain. We...
Hemoglobin A1c (HbA1c), an important diagnostic biomarker for type 2 diabetes (T2D), is also associated with aging, cognitive performance, and mortality. To identify epistatic interactions, we assessed 133 known gene variants associated with HbA1c am...
Reinfection cases have been reported in some countries with clinical symptoms ranging from mild to severe. In addition to clinical diagnosis, virus genome sequence from the first and second infection has to be confirmed to either belong to separate c...
In this work, the variant selection of martensite in a stainless maraging steel was investigated by electron backscattering diffraction and a new protocol of parent phase reconstruction. The reconstruction protocol enables digital austenite reversion...
This paper consists of two parts. The first one contains a description and methodology of the composite material used as friction material in clutches. Four variants of such material, differing in the type of carbon additive (the elemental graphite,...
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