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Performance Evaluation of BRCA1/2 Genetic Test Using Next-Generation Sequencing Based on Target Capture Method

Kim A, Kim JH, Seo SH, Lee S, Lee W, Chun S

Background: BRCA1 and BRCA2 pathogenic variants are important genetic factors associated with cancers and biomarkers of breast and ovarian cancer. Although Sanger sequencing is regarded as the gold standard...
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Genetic role in the pathogenesis of complex regional pain syndrome: a review

Kang H, Noh S, Hwang J, Lee J, Gang S

The ambiguity of complex regional pain syndrome (CRPS) posed a challenge to many medical researchers in the early days after its discovery and continues to do so till date. The...
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SLC9A6 -related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A case report

Bae HR, Kim YO

The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in...
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Treadmill Exercise as a Preventive Measure Against Age-Related Anxiety and Social Behavioral Disorders in Rats: When Is It Worth Starting?

Taguchi S, Choudhury ME, Mikami K, Utsunomiya R, Yano H, Tanaka J

Objective To determine the appropriate time points to start regular exercise which could reduce age-related anxiety and impaired social behavior. Methods For this study, 8-week-old male Wistar rats were divided into...
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A new era of genetic diagnosis for short stature children: A review

Kim YM

Children with short stature are often presented to pediatric endocrinologists. Short stature is defined as the height that is more than two standard deviations below the corresponding mean height for...
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Monogenic diabetes: recent updates on diagnosis and precision treatment: A narrative review

Jang KM

Monogenic diabetes is commonly caused by single-gene mutations. This disease ranges from 1% to 5% in all cases of diabetes and is less affected by behavior and environment. Neonatal diabetes...
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Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant

Bang YJ, Kwon WK, Kim JW, Lee JE, Jung BY, Kim M, Kim J, An J, Jung SP, Kim HK, Kim Z, Youn HJ, Ryu JM, Kim SW, Korean Hereditary Breast Cancer Study Group

Purpose: We provide evidence for the reclassification of the BRCA1:c.5017_5019del variant by presenting the clinicopathological characteristics, clinical outcomes, and family history of breast or ovarian cancer in 17 patients with...
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Low-Frequency Repetitive Transcranial Magnetic Stimulation in the Early Subacute Phase of Stroke Enhances Angiogenic Mechanisms in Rats

Lee Y, Oh BM, Park SH, Han TR

Objective To characterize the repetitive transcranial magnetic stimulation (rTMS) induced changes in angiogenic mechanisms across different brain regions. Methods Seventy-nine adult male Sprague-Dawley rats were subjected to a middle cerebral artery...
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Somatic Mutations of TP53 Identified by Targeted Next-Generation Sequencing Are Poor Prognostic Factors for Primary Operable Breast Cancer: A Single-Center Study

Park JH, Kwon MJ, Seo J, Kim HY, Min SK, Kim LS

Few studies have reported on the clinical utility of targeted next-generation sequencing (NGS) for breast cancer in Korea. We retrospectively reviewed the targeted NGS data of 219 patients with breast...
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PLK2 Single Nucleotide Variant in Gastric Cancer Patients Affects miR-23b-5p Binding

Dominkuš PP, Mesic A, Hudler P

Purpose: Chromosomal instability is a hallmark of gastric cancer (GC). It can be driven by single nucleotide variants (SNVs) in cell cycle genes. We investigated the associations between SNVs in...
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Novel DNAH1 Mutation Loci Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Literature Review

Zhuang BJ, Xu SY, Dong L, Zhang PH, Zhuang BL, Huang XP, Li GS, You YD, Chen D, Yu XJ, Chang DG

The protein encoded by dynein axonemal heavy chain 1 (DNAH1) is a part of dynein, which regulates the function of cilia and sperm flagella. The mutant of DNAH1 causes the...
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Pathogenesis and prognosis of primary oral squamous cell carcinoma based on microRNAs target genes: a systems biology approach

Taherkhani A, Dehto SS, Jamshidi S, Shojaei S

Oral squamous cell carcinoma (OSCC) is the most prevalent head and neck malignancy, with frequent cervical lymph-node metastasis, leading to a poor prognosis in OSCC patients. The present study aimed...
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The dual role of transforming growth factor-beta signatures in human B viral multistep hepatocarcinogenesis: early and late responsive genes

Yoo JE, Nahm JH, Kim YJ, Jeon Y, Park YN

Background/Aim: Transforming growth factor-beta (TGF-β) has a dichotomous role, functioning as a tumor suppressor and tumor promoter. TGF-β signatures, explored in mouse hepatocytes, have been reported to predict the clinical...
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TP53 variants in p53 signatures and the clonality of STICs in RRSO samples

Akahane T, Masuda K, Hirasawa A, Kobayashi Y, Ueki A, Kawaida M, Misu K, Nakamura K, Nagai S, Chiyoda T, Yamagami W, Hayashi S, Kataoka F, Banno K, Sugano K, Okita H, Kosaki K, Nishihara H, Aoki D

Objective Precursor lesions may be identified in fallopian tube tissue after risk-reducing salpingo-oophorectomy (RRSO) in patients with pathogenic variants of BRCA1/2. Serous tubal intraepithelial carcinoma (STIC) is considered a precursor of...
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Pachyonychia Congenita with KRT16 Gene Mutation

Shin JO, Bae KN, Son JH, Kim Hs, Ko HC, Kim B, Kim MB, Shin K

  • KMID: 2531080
  • Korean J Dermatol.
  • 2022 Jun;60(5):329-331.
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Sex Differences in Attitudes Toward Marriage and Childbearing Based on the Assumption of Being BRCA1/2 Mutation Carriers Among Young People

Jeong J, Park B, Kim D, Kim J, Lee BY, Yoon J, Kim SW

Purpose: This study investigated changes in attitudes toward marriage and childbearing assuming a BRCA1/2 mutation carrier status among healthy, unmarried individuals in Korea. Methods: A nationally representative sample of healthy, unmarried...
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Ursolic acid improves the indoxyl sulfate-induced impairment of mitochondrial biogenesis in C2C12 cells

Sasaki Y, Kojima-Yuasa A, Tadano H, Mizuno A, Kon A, Norikura T

BACKGROUND/OBJECTIVES: Patients with chronic kidney disease (CKD) have a high concentration of uremic toxins in their blood and often experience muscle atrophy. Indoxyl sulfate (IS) is a uremic toxin produced...
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Protocatechuic Acid, a Gut Bacterial Metabolite of Black Raspberries, Inhibits Adenoma Development and Alters Gut Microbiome Profiles in Apc Min/+ Mice

Dong A, Lin CW, Echeveste CE, Huang YW, Oshima K, Yearsley M, Chen X, Yu J, Wang LS

Administration of black raspberries (BRBs) and their anthocyanin metabolites, including protocatechuic acid (PCA), has been demonstrated to exert chemopreventive effects against colorectal cancer through alteration of innate immune cell trafficking,...
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Gene Expression Changes by Diallyl Trisulfide Administration in Chemically-induced Mammary Tumors in Rats

Hahm ER, Singh SV

Diallyl trisulfide (DATS) was shown to be a potent inhibitor of luminal-type MCF-7 xenograft growth in vivo. The present study was conducted to determine the preventive effect of DATS administration...
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Diarylpropionitrile inhibits melanogenesis via protein kinase A/cAMP-response element-binding protein/microphthalmiaassociated transcription factor signaling pathway in α-MSHstimulated B16F10 melanoma cells

Lee HJ, An S, Bae S, Lee JH

Diarylpropionitrile (DPN), a selective agonist for estrogen receptor β(ERβ), has been reported to regulate various hormonal responses through activation of ERβ in tissues including the mammary gland and brain. However,...
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