The nature and pathological impact of the c.1748A > G variant of the neurofibromin 1 gene.

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, and mutations in the NF1 gene lead to RAS overactivation, which stimulates abnormal cell proliferation and can cause various tumors. The c.1748A > G mutation in the NF1 gene was initially classified as a missense mutation, but has also been suggested to be a splice mutation.

Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.

Genetic testing is recommended for all patients with pheochromocytomas and paragangliomas (PPGL) to establish genotype-phenotype associations. We investigated germline mutations in 59 patients with PPGL at six Korean university hospitals using next-generation sequencing (NGS) targeting 38 PPGL-associated genes, including those recommended by the Korean PPGL Task Force. Germline mutations were identified in 13 patients (22%), and affected four genes: , , , and .

USP37 Deubiquitinates CDC73 in HPT-JT Syndrome.

The gene, a defect which causes hyperparathyroidism-jaw tumor (HPT-JT) syndrome, encodes CDC73/parafibromin. We aimed to investigate whether CDC73 would be a target for ubiquitin-proteasome degradation. We cloned full-length cDNAs encoding a family of 58 ubiquitin-specific deubiquitinating enzymes (DUBs), also known as ubiquitin-specific proteases (USPs).

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).

Background/aims: Germline mutations of the rearranged during transfection (RET) gene cause multiple endocrine neoplasia type 2 (MEN2). About 85% of RET mutations in MEN2 occur in codon Cys634. The RET D631Y mutation has recently been discovered, and we have studied its molecular expression and clinical consequences.

Functional Identification of Compound Heterozygous Mutations in the Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.

Background: We previously reported a patient with congenital adrenal hyperplasia (CAH) with compound heterozygous mutations in the cytochrome P450 17A1 () gene. One allele had a p.His373Leu and the other a new p.

Impact of weight changes on the incidence of diabetes mellitus: a Korean nationwide cohort study.

Obesity is a well-known risk factor for type 2 diabetes, but few data exist on the association between weight changes and diabetes risk in non-obese subjects. This study aimed to investigate the effect of weight changes on the incidence of type 2 diabetes in Korea, using 51,405 non-diabetic subjects. Individuals who developed type 2 diabetes were more likely to be older and male, to have high body mass index (BMI), blood pressure, fasting blood glucose, and total cholesterol, to be current smokers and frequent drinkers, to be hypertensive and hyperlipidemic, and to have a family history of diabetes, compared to those without type 2 diabetes.

Impact of metabolic status on the incidence of psoriasis: a Korean nationwide cohort study.

Growing evidence suggests that obesity is a risk factor for incident psoriasis. This study was aimed to evaluate the association of obesity and metabolic status with the incidence of psoriasis. A total of 418,057 adults were followed-up using a nationwide prospective cohort study in Korea.

Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.

The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis. In the present study, we analyzed the CaSR gene in a Korean family with familial hypocalciuric hypercalcemia (FHH). Genetic studies were performed by direct sequence analysis of the CaSR gene in genomic DNA obtained from peripheral leukocytes.

Serum gamma-glutamyltransferase is not associated with subclinical atherosclerosis in patients with type 2 diabetes.

Background: This study investigated the association between serum gamma-glutamyltransferase (GGT) level and subclinical atherosclerosis in patients with type 2 diabetes.

Methods: This cross-sectional study involved 1024 patients with type 2 diabetes mellitus. Measurement of brachial-ankle pulse wave velocity (baPWV; as a marker of arterial stiffness) and an ultrasound assessment of carotid atherosclerosis were performed.

Association of serum calcium concentrations with fibrinogen and homocysteine in nondiabetic Korean subjects.

Considerable evidence shows that increased serum calcium levels are associated with metabolic disorders, cardiovascular disease, and increased mortality. This study investigated whether serum calcium, within a normal range, is significantly associated with serum fibrinogen and homocysteine, markers of increased cardiovascular disease risk in nondiabetic Korean subjects.A cross-sectional analysis was performed on 1096 subjects (mean age, 55.

Serum bilirubin levels are inversely associated with PAI-1 and fibrinogen in Korean subjects.

Objectives: Oxidative stress may contribute to atherosclerosis and increased activation of the coagulation pathway. Bilirubin may reduce activation of the hemostatic system to inhibit oxidative stress, which would explain its cardioprotective properties shown in many epidemiological studies. This study investigated the association of serum bilirubin with fibrinogen and plasminogen activator inhibitor-1 (PAI-1), respectively.

Mean Platelet Volume Is Closely Associated With Serum Glucose Level but Not With Arterial Stiffness and Carotid Atherosclerosis in Patients With Type 2 Diabetes.

Context: Mean platelet volume (MPV) has been suggested as a predictive biomarker for cardiovascular disease.

Objective: This study investigated the association between MPV and subclinical atherosclerosis in Korean patients with type 2 diabetes.

Methods: This cross-sectional study involved 1205 patients with type 2 diabetes mellitus.

Inverse association between serum total bilirubin levels and diabetic peripheral neuropathy in patients with type 2 diabetes.

Several studies have suggested that bilirubin, a potent innate antioxidant, plays a protective role against cardiovascular and microvascular disease. This study investigated the association between serum concentrations of total bilirubin (TB) and the presence of diabetic peripheral neuropathy (DPN) in Korean diabetic patients. This cross-sectional study involved 1207 patients aged more than 30 years with type 2 diabetes.

Association between serum calcium and phosphorus concentrations with non-alcoholic fatty liver disease in Korean population.

Background And Aim: Growing evidence suggests that non-alcoholic fatty liver disease (NAFLD) is interrelated with renal dysfunction and disturbed bone metabolism, both of which play a key role in calcium and phosphorus homeostasis. We investigated the association between NAFLD and serum calcium and phosphorus levels in Korean subjects.

Methods: We performed a cross-sectional analysis of 16,592 subjects undergoing a general health checkup.

Inverse association between serum bilirubin levels and arterial stiffness in Korean women with type 2 diabetes.

Background: Considerable evidence suggests that bilirubin is a potent physiologic antioxidant that may provide important protection against cardiovascular disease (CVD) and inflammation. We investigated the relationship between serum total bilirubin (TB) levels and arterial stiffness, measured by the brachial-ankle pulse wave velocity (baPWV), in patients with type 2 diabetes.

Methods: We conducted a cross-sectional analysis of 1,711 subjects with type 2 diabetes (807 men and 904 women; mean age, 57.

Upregulation of FGFR1 expression is associated with parathyroid carcinogenesis in HPT-JT syndrome due to an HRPT2 splicing mutation.

Mutations of the HRPT2 gene, which are responsible for hyperparathyroidism-jaw tumor (HPT-JT) syndrome, have been implicated in the development of a high proportion of parathyroid carcinomas. The aim of this study was to investigate differences in expression of the most important genes connected with parathyroid carcinoma between HPT-JT syndrome due to an HRPT2 splicing mutation, normal parathyroid tissue and sporadic parathyroid adenoma. Total RNAs were extracted from parathyroid carcinoma in HPT-JT syndrome harbouring HRPT2 splicing mutation or sporadic parathyroid adenoma and normal parathyroid gland, and subjected to Illumina DASL-based gene expression assay.

Association between Lower Normal Free Thyroxine Concentrations and Obesity Phenotype in Healthy Euthyroid Subjects.

We investigated whether thyroid function could identify obesity phenotype in euthyroid subjects. A cross-sectional analysis was performed among nondiabetic, euthyroid subjects. We stratified subjects into four groups by BMI and insulin resistance (IR).

Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma.

Background: Recent advances in genetics revealed that 25% to 30% of head and neck paragangliomas (PGLs) are inherited tumors associated with germline mutation, mainly in the succinate dehydrogenase (SDH) gene.

Methods: DNA was isolated from whole blood and polymerase chain reaction (PCR) products were sequenced with an ABI3730 × 1 Genetic Analyzer.

Results: A 30-year-old Korean woman underwent resection of a carotid PGL.

Association between low serum free thyroxine concentrations and coronary artery calcification in healthy euthyroid subjects.

Background: Considerable evidence suggests that hypothyroidism could promote atherosclerotic vascular changes. We planned this study to investigate whether serum free thyroxine (FT4) or thyroid-stimulating hormone (TSH) levels are associated with coronary artery calcification measured in healthy euthyroid subjects.

Methods: A cross-sectional analysis was performed among subjects who visited our hospital for a health checkup.

A case of Dyke-Davidoff-Masson syndrome associated with central hypothyroidism and secondary adrenal insufficiency.

A diagnosis of central hypothyroidism (CH) can be missed easily or delayed without a high index of suspicion due to normal or slightly altered thyroid stimulating hormone (TSH) levels during the initial screening test for thyroid dysfunction. A correct diagnosis of CH is very important for safely treating patients. Specifically, doctors must ensure a proper evaluation of combined adrenal insufficiency to prevent a fatal adrenal crisis.

Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus.

Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive disorder associated with germ-line mutations of the arginine vasopressin (AVP) receptor type 2 (AVPR2) gene. Recent molecular studies have demonstrated that insensitivity of renal tubule cells to AVP is associated with AVPR2 mutations. We identified a novel deletion mutation at nucleotide position 302 (302delC), in a Korean NDI family, that results in a frameshift and a truncated receptor protein.

Association of oxidative stress with postmenopausal osteoporosis and the effects of hydrogen peroxide on osteoclast formation in human bone marrow cell cultures.

It has been suggested that oxidative stress is associated with the pathogenesis of osteoporosis. The objective of this study was to explore the association between a marker of oxidative stress and either bone turnover markers or bone mineral density (BMD) in postmenopausal women. In addition, the effects of oxidative stress on the formation of osteoclasts in human bone marrow cell culture were examined.