• Journal of Genetic Medicine
• /
• 제11권1호
• /
• pp.31-35
• /
• 2014

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.

• Childhood Kidney Diseases
• /
• 제24권1호
• /
• pp.58-61
• /
• 2020

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type with an autosomal recessive inheritance (caused by mutations of the epithelial sodium channel) and renal type with an autosomal dominant inheritance (caused by mutations in the mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely; however, PHA1 commonly involves hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of renin and aldosterone. The earliest signs of both type of PAH1 also comprise insufficiency weight gain due to chronic dehydration and failure to thrive during infancy. Here, we report a case of renal PAH1 in a 28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene (c.1341_1345dupAAACC in exon 2), showing only failure to thrive without the characteristic of dehydration.

• BMB Reports
• /
• 제47권2호
• /
• pp.51-59
• /
• 2014

Cellular senescence is a physiological process of irreversible cell-cycle arrest that contributes to various physiological and pathological processes of aging. Whereas replicative senescence is associated with telomere attrition after repeated cell division, stress-induced premature senescence occurs in response to aberrant oncogenic signaling, oxidative stress, and DNA damage which is independent of telomere dysfunction. Recent evidence indicates that cellular senescence provides a barrier to tumorigenesis and is a determinant of the outcome of cancer treatment. However, the senescence-associated secretory phenotype, which contributes to multiple facets of senescent cancer cells, may influence both cancer-inhibitory and cancer-promoting mechanisms of neighboring cells. Conventional treatments, such as chemo- and radiotherapies, preferentially induce premature senescence instead of apoptosis in the appropriate cellular context. In addition, treatment-induced premature senescence could compensate for resistance to apoptosis via alternative signaling pathways. Therefore, we believe that an intensive effort to understand cancer cell senescence could facilitate the development of novel therapeutic strategies for improving the efficacy of anticancer therapies. This review summarizes the current understanding of molecular mechanisms, functions, and clinical applications of cellular senescence for anticancer therapy.

• Clinical and Experimental Reproductive Medicine
• /
• 제26권2호
• /
• pp.293-296
• /
• 1999

Different Y mutation in Yq11 occurring de novo in sterile males were first described 19 years ago. Since the phenotype of the patients was always associated with azoospermia or severe oligospermia, it was postulated that these mutations interrupt a Y spermatogenesis locus in the euchromatic Y region (Yq11) called azoospermia factor (AZF). Recently, it became possible to map AZF mutations to different subregions in Yq11by molecular deletion mapping. This indicated that azoospermia is possibly caused by more than one Y gene in Yq11 and the Yq11 chromatin structure. The frequency of AZF mutations in idiopathic sterile males $(5{\sim}20%)$ may indicate a need for a general screening programme for its analysis in infertility clinic. We have experienced a case of deletion distal to Yq11 region in azoospermic patient. So we report this case with a brief review of literatures.

• Genomics & Informatics
• /
• 제16권4호
• /
• pp.22.1-22.5
• /
• 2018

In 1966, the International Classification of Viruses (ICNV) was established to standardize the naming of viruses. In 1975, the organization was renamed "International Committee on Taxonomy of Viruses (ICTV)," by which it is still known today. The primary virus classification provided by ICTV in 1971 was for viruses infecting vertebrates, which includes 19 genera, 2 families, and 24 unclassified groups. Presently, the 10th virus taxonomy has been published. However, the early classification of viruses was based on clinical results "in vivo" and "in vitro," as well as on the shape of the Phenotype virus. Due to the development of next-generation sequencing and the accompanying bioinformatics analysis pipelines, a reconstruction of the classification system has been proposed. At a meeting held in Boston, USA between June 9-11, 2016, there was even an in-depth discussion regarding the classification of viruses using metagenomic data. One suggested activity that arose from the meeting was that viral taxonomy should be reconstructed, based on genotype and bioinformatics analysis "in silico." This article describes our efforts to achieve this goal by construction of a web-based system and the extension of an associated database, based on ICTV taxonomy. This virus taxonomy web system was designed specifically to extend the virus taxonomy up to strain and isolation, which was then connected with the NCBI database to facilitate searches for specific viral genes; there are also links to journals provided by the EMBL RESTful API that improves accessibility for academic groups.

• Genomics & Informatics
• /
• 제16권4호
• /
• pp.23.1-23.5
• /
• 2018

Virus taxonomy was initially determined by clinical experiments based on phenotype. However, with the development of sequence analysis methods, genotype-based classification was also applied. With the development of genome sequence analysis technology, there is an increasing demand for virus taxonomy to be extended from in vivo and in vitro to in silico. In this study, we verified the consistency of the current International Committee on Taxonomy of Viruses taxonomy using an in silico approach, aiming to identify the specific sequence for each virus. We applied this approach to norovirus in Caliciviridae, which causes 90% of gastroenteritis cases worldwide. First, based on the dogma "protein structure determines its function," we hypothesized that the specific sequence can be identified by the specific structure. Firstly, we extracted the coding region (CDS). Secondly, the CDS protein sequences of each genus were annotated by the conserved domain database (CDD) search. Finally, the conserved domains of each genus in Caliciviridae are classified by RPS-BLAST with CDD. The analysis result is that Caliciviridae has sequences including RNA helicase in common. In case of Norovirus, Calicivirus coat protein C terminal and viral polyprotein N-terminal appears as a specific domain in Caliciviridae. It does not include in the other genera in Caliciviridae. If this method is utilized to detect specific conserved domains, it can be used as classification keywords based on protein functional structure. After determining the specific protein domains, the specific protein domain sequences would be converted to gene sequences. This sequences would be re-used one of viral bio-marks.

• 한국임상수의학회지
• /
• 제41권2호
• /
• pp.106-111
• /
• 2024

A 4-year-old neutered female domestic shorthair cat weighing 5.1 kg was referred to Jeju National University Hospital with acute onset respiratory distress, weakness, and anorexia. The patient had a history of stressful antecedent events that involved bullying by a newly introduced cat. Thoracic radiography and echocardiography revealed a stage C hypertrophic cardiomyopathy phenotype based on the American College of Veterinary Internal Medicine classification system with pulmonary edema, pleural effusion, and pericardial effusion at the same time. The patient was treated with furosemide, pimobendan, and rivaroxaban. Pericardiocentesis was performed because pericardial effusion was identified. Reevaluation after 30 days revealed a normal respiratory rate on physical examination, normal cardiac shape on thoracic radiographs, and normal cardiac measurements on echocardiography. The patient was tentatively diagnosed with transient myocardial thickening (TMT) and all medications were discontinued. Six months after the initial hospitalization, the cat continued to do well without any clinical signs or left ventricular wall thickening. This case is the first report describing feline TMT in Korea. Moreover, it involves a rare case in which pulmonary edema, pleural effusion, and pericardial effusion, which induce cardiac tamponade, occurred simultaneously due to TMT-related congestive heart failure.

• 대한소아치과학회지
• /
• 제51권1호
• /
• pp.66-79
• /
• 2024

This study aimed to assess the prevalence and distribution pattern of dental anomalies in the permanent teeth of patients with non-syndromic cleft lip with or without cleft palate. Additionally, it aimed to compare differences in dental anomalies between cleft and non-cleft areas, considering gender and cleft phenotype. Panoramic radiographs of 164 patients diagnosed with non-syndromic orofacial clefts were retrospectively analyzed by a single examiner to confirm dental anomalies. The dental anomalies investigated included tooth agenesis, supernumerary teeth, microdontia, rotation, ectopic eruption, and enamel hypoplasia. Cleft phenotypes were categorized into 7 types based on medical and dental records. A significantly higher prevalence of supernumerary teeth was observed in males than females within non-cleft areas (p = 0.017), with no significant differences in other dental anomalies. In non-cleft area, patients with cleft palate exhibited a high prevalence of tooth agenesis (p < 0.0001) and microdontia (p = 0.012) compared to other cleft phenotypes. Maxillary incisor rotation was closely associated with adjacent tooth agenesis in unilateral cleft lip and palate cases (p = 0.034). This study suggests that the additional subphenotype based on dental anomalies in patients with orofacial cleft may serve as applicable clinical markers.

• IMMUNE NETWORK
• /
• 제20권1호
• /
• pp.7.1-7.11
• /
• 2020

Cancer immunotherapy, in the form of vaccination, adoptive cellular transfer, or immune checkpoint inhibitors, has emerged as a promising practice within the field of oncology. However, despite the developing field's potential to revolutionize cancer treatment, the presence of immunotherapeutic-resistant tumor cells in many patients present a challenge and limitation to these immunotherapies. These cells not only indicate immunotherapeutic resistance, but also show multi-modal resistance to conventional therapies, abnormal metabolism, stemness, and metastasis. How can immunotherapeutic-resistant tumor cells render multi-malignant phenotypes? We reasoned that the immune-refractory phenotype could be associated with multi-malignant phenotypes and that these phenotypes are linked together by a factor that acts as the master regulator. In this review, we discussed the role of the embryonic transcription factor NANOG as a crucial master regulator we named "common factor" in multi-malignant phenotypes and presented strategies to overcome multi-malignancy in immunotherapeutic-resistant cancer by restraining the NANOG-mediated multi-malignant signaling axis. Strategies that blunt the NANOG axis could improve the clinical management of therapy-refractory cancer.

• Journal of Periodontal and Implant Science
• /
• 제53권5호
• /
• pp.362-375
• /
• 2023

Purpose: The aim of this study was to investigate the relationships between gingival thickness (GT) and keratinized gingiva width (KGW), papilla height (PH), and crown ratio (CR) by employing transgingival probing and an intraoral scanner (IOS). Methods: This cross-sectional study examined 360 maxillary anterior teeth from 60 patients. GT was assessed using transgingival probing with an endodontic spreader. KGW, CR, and PH were measured using an IOS. One-way analysis of variance, the Student's t-test, and Spearman correlation coefficients were employed for statistical analysis. Results: Higher GT was significantly associated with thinner KGW in the central region (P=0.019). There was no statistically significant difference in GT between teeth (P=0.06). PH was lower in lateral teeth than in canines (P=0.047), with a PH of 2.99 mm in lateral teeth. The KGW was narrower in canines than in central teeth (P=0.007). A moderate correlation was observed between KGW and PH in the central region (P=0.01), while a weak negative correlation was found between KGW and CR (P=0.043). Conclusions: A moderate negative correlation was found between GT and KGW, as well as between PH and KGW in central teeth. In contrast, a weak negative correlation existed between CR and KGW. The PH (2.99 mm) was lower in lateral teeth than in canines. The traditional paradigm, which suggests a positive correlation between KGW and GT, was reevaluated by measuring KGW using an IOS.