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Cystic fibrosis (CF) is an autosomal recessive disorder usually found in populations of white Caucasian descent. CF is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. A 5-yr-old Korean girl was admitted complaining of coughing and greenish sputum. Chest radiographs and computed tomographic (CT) scan revealed diffuse bronchiectasis in both lungs. The patient had chronic diarrhea and poor weight gain, and the abdominal pancreaticobiliary CT scan revealed

Dear Editor, Cold agglutinin is an autoantibody that causes autoimmune hemolytic anemia by binding to I/i carbohydrate antigens on the red blood cell (RBC) surface [1]. While RBC agglutination causes clinical symptoms of hemolytic anemia, agglutination caused by cold agglutinin is a notorious pre-analytical and analytical factor that leads to spurious automated complete blood count (CBC) results [2]. Although RBC agglutination falsely increases mean corpuscular volume (MCV), effects of cold aggl

The definition of congenital anomalies of the kidney and urinary tract (CAKUT) is the disease of structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux (VUR). These anomalies can cause pediatric chronic kidney disease. However, the pathogenesis of CAKUT is not well understood, because identifying the genetic architecture of CAKUT is difficult due to the phenotypic heterogeneity and multifactorial genetic penetrance. We describe the current genetic basis and

Plasma membrane proteins are crucial for signal transduction, trafficking, and cell-cell interactions, all of which are vital for cell survival. These proteins, including G-protein coupled receptors, ion channels, transporters, and receptors, are key drug targets due to their central role in receiving and amplifying cellular signals. However, the isolation and purification of plasma membrane proteins pose significant challenges because of their integration with phospholipid bilayers and the smal

It is crucial to manage hearing loss and its associated public health impacts. In this study, we aimed to understand the role of Sema3f in the development and maintenance of the auditory system. Inner ear-specific Sema3f knockout mice exhibited hearing loss at 8 weeks with an elevated threshold for auditory brainstem response and an absent threshold for distortion product optoacoustic emission tests. Additionally, an increased number of outer hair cells and abnormal patterns of spiral ganglion n

The voltage–gated channel subfamily Q member 4 (KCNQ4), a K+ channel, is one of the most frequently mutated genes in autosomal dominant nonsyndromic hearing loss. KCNQ4, which contains 6 transmembrane domains and a long cytoplasmic C-terminal tail, plays a crucial role in K+ recycling in the inner ear. Although KCNQ4 binds to various interactors, specific binding sites of the interactors remain elusive, and the biological significance of these interactions remains unknown. Therefore, this study

Melanoma metastasis involves dynamic cellular reprogramming that enables tumor cells to survive detachment and disseminate to distant organs. We investigated the role of adherent-to-suspension transition (AST) in melanoma metastasis, examining its dynamics during metastatic dissemination and its relationship with epithelial-to-mesenchymal-like transition (EMT-like transition). Our findings reveal that AST genes, IKZF1, IRF8, and NFE2, critically modulate anchorage dependence through the regulati

PLCE1 encodes phospholipase C epsilon, and its mutations cause recessive nephrotic syndrome. However, the mechanisms by which PLCE1 mutations result in defects associated with glomerular function are not clear. To address this, we investigated the function of PLCE1 in podocytes called glomerular epithelial cells, where the pathogenesis of nephrotic syndrome converges. PLCE1 colocalized with Rho GTPases in glomeruli. Further, it interacted with Rho GTPases through the pleckstrin homology domain a

Background and Objectives Nucleotide binding to purinergic P2Y receptors contributes to the regulation of fluid and ion transport in the middle ear epithelial cells. Here, we investigated the regulatory mechanism of the P2Y2 receptor agonist, uridine-5’-triphosphate (UTP), on Cl- transport in cultured normal human middle ear epithelial (NHMEE) cells. Materials and Method Electrophysiological measurements were performed in monolayers of cultured NHMEE cells. Short circuit currents (Isc) were meas

Purpose The nProfiler 1 Stomach Cancer Assay (nProfiler1), designed to predict responses to fluorouracil-based adjuvant chemotherapy, measures the expression of four gastric cancer target genes (GZMB, WARS, SFRP4, and CDX1). The randomized phase III POST trial aimed to compare the efficacies of two adjuvant S-1-based doublet chemotherapies: S-1 plus cisplatin (SP) and S-1 plus docetaxel (DS). This study aimed to validate the nProfiler1 assay using a distinct cohort from the POST trial. Materials

Hereditary hearing loss is a genetically heterogeneous condition that affects millions of people worldwide and has limited curative treatment options. Recent advancements in gene therapy have opened promising avenues for correcting the underlying genetic defects in the inner ear. This review summarizes the key developments in vector platforms, delivery strategies, target genes, preclinical models, and clinical trials relevant to both gene supplementation and gene editing approaches, as well as f