- Performance Evaluation of BRCA1/2 Genetic Test Using Next-Generation Sequencing Based on Target Capture Method
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Kim A, Kim JH, Seo SH, Lee S, Lee W, Chun S
- KMID: 2538681
- Lab Med Qual Assur.
- 2022 Dec;44(4):216-225.
- doi: 10.15263/jlmqa.2022.44.4.216
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
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Kang H, Noh S, Hwang J, Lee J, Gang S
- KMID: 2538513
- J Biomed Transl Res.
- 2022 Dec;23(4):109-118.
- doi: 10.12729/jbtr.2022.23.4.109
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
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Bae HR, Kim YO
- KMID: 2537692
- J Genet Med.
- 2022 Dec;19(2):100-104.
- doi: 10.5734/JGM.2022.19.2.100
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?
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Taguchi S, Choudhury ME, Mikami K, Utsunomiya R, Yano H, Tanaka J
- KMID: 2537163
- Ann Rehabil Med.
- 2022 Dec;46(6):320-328.
- doi: 10.5535/arm.22105
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
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Kim YM
- KMID: 2538086
- Precis Future Med.
- 2022 Dec;6(4):218-225.
- doi: 10.23838/pfm.2022.00142
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
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Jang KM
- KMID: 2538085
- Precis Future Med.
- 2022 Dec;6(4):209-217.
- doi: 10.23838/pfm.2022.00121
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
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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
- KMID: 2536908
- Ann Surg Treat Res.
- 2022 Dec;103(6):323-330.
- doi: 10.4174/astr.2022.103.6.323
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
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Lee Y, Oh BM, Park SH, Han TR
- KMID: 2535740
- Ann Rehabil Med.
- 2022 Oct;46(5):228-236.
- doi: 10.5535/arm.22040
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
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Park JH, Kwon MJ, Seo J, Kim HY, Min SK, Kim LS
- KMID: 2534775
- J Breast Cancer.
- 2022 Oct;25(5):379-386.
- doi: 10.4048/jbc.2022.25.e41
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
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Dominkuš PP, Mesic A, Hudler P
- KMID: 2535112
- J Gastric Cancer.
- 2022 Oct;22(4):348-368.
- doi: 10.5230/jgc.2022.22.e31
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
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Zhuang BJ, Xu SY, Dong L, Zhang PH, Zhuang BL, Huang XP, Li GS, You YD, Chen D, Yu XJ, Chang DG
- KMID: 2537104
- World J Mens Health.
- 2022 Oct;40(4):551-560.
- doi: 10.5534/wjmh.210119
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
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Taherkhani A, Dehto SS, Jamshidi S, Shojaei S
- KMID: 2535362
- Genomics Inform.
- 2022 Sep;20(3):e27.
- doi: 10.5808/gi.22038
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
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Yoo JE, Nahm JH, Kim YJ, Jeon Y, Park YN
- KMID: 2534238
- J Liver Cancer.
- 2022 Sep;22(2):115-124.
- doi: 10.17998/jlc.2022.04.20
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
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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
- KMID: 2537895
- J Gynecol Oncol.
- 2022 Jul;33(4):e50.
- doi: 10.3802/jgo.2022.33.e50
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
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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
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Jeong J, Park B, Kim D, Kim J, Lee BY, Yoon J, Kim SW
- KMID: 2530766
- J Breast Cancer.
- 2022 Jun;25(3):233-243.
- doi: 10.4048/jbc.2022.25.e25
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
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Sasaki Y, Kojima-Yuasa A, Tadano H, Mizuno A, Kon A, Norikura T
- KMID: 2527807
- Nutr Res Pract.
- 2022 Apr;16(2):147-160.
- doi: 10.4162/nrp.2022.16.2.147
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
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Dong A, Lin CW, Echeveste CE, Huang YW, Oshima K, Yearsley M, Chen X, Yu J, Wang LS
- KMID: 2528091
- J Cancer Prev.
- 2022 Mar;27(1):50-57.
- doi: 10.15430/JCP.2022.27.1.50
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
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Hahm ER, Singh SV
- KMID: 2528086
- J Cancer Prev.
- 2022 Mar;27(1):22-30.
- doi: 10.15430/JCP.2022.27.1.22
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
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Lee HJ, An S, Bae S, Lee JH
- KMID: 2526730
- Korean J Physiol Pharmacol.
- 2022 Mar;26(2):113-123.
- doi: 10.4196/kjpp.2022.26.2.113
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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