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Impaired Nucleoporins Are Present in Sporadic Amyotrophic Lateral Sclerosis Motor Neurons that Exhibit Mislocalization of the 43-kDa TAR DNA-Binding Protein

Aizawa H, Yamashita , Kato H, Kimura T, Kwak S

BACKGROUND AND PURPOSE: Disruption of nucleoporins has been reported in the motor neurons of patients with sporadic amyotrophic lateral sclerosis (sALS). However, the precise changes in the morphology of nucleoporins...
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The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population

Kim JS, Kwon S, Ki CS, Youn J, Cho JW

BACKGROUND AND PURPOSE: The etiologies and frequencies of cerebellar ataxias vary between countries. Our primary aim was to determine the frequency of each diagnostic group of cerebellar ataxia patients in...
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Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort

Sakakibara R, Tateno F, Kishi M, Tsuyusaki , Aiba Y, Terada H, Inaoka T, Sawai S, Kuwabara S, Nomura F

OBJECTIVE: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and...
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Clinicopathologic characteristics of teenage sporadic colorectal cancer

Lee JJ, Kim SH, Lim SB, Lee JL, Kim CW, Yoon YS, Park IJ, Yu CS, Kim JC

PURPOSE: Colorectal cancer (CRC) is generally considered a disease of old age. Most CRCs are diagnosed at age 50 and over. CRC rarely occurs in teenagers, and the clinical features...
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Clinicopathologic characteristics of patients with sporadic colorectal cancer under the age of 30

Oh JW, Huh JW, Park YA, Cho YB, Yun SH, Lee WY, Kim HC

PURPOSE: The purpose of this study was to investigate the distinctive clinicopathologic features and oncological survival outcomes of sporadic colorectal cancer in patients under the age of 30 years old. METHODS:...
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Phenotype Difference between Familial and Sporadic Ankylosing Spondylitis in Korean Patients

Kim HW, Choe HR, Lee SB, Chang WI, Chae HJ, Moon JY, Kang J, Lee S, Song YW, Lee EY

Clustered occurrences of ankylosing spondylitis (AS) in family have been noticed. We evaluated patients with AS confirmed by the modified New York criteria for familial history of AS (one or...
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Chilblain Lupus Erythematosus: A Case Report and Review of Literature

Jeon SY, Hong JW, Ko DY, Song KH, Kim KH

  • KMID: 2301616
  • Korean J Dermatol.
  • 2012 Jul;50(7):624-627.
Chilblain lupus erythematosus (LE) is a rare, chronic form of cutaneous LE (CLE), which presents mostly in women as erythematous to violaceous plaques on the acral areas and face, precipitated...
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A Case of Colonic Mucinous Adenocarcinoma in 19-year-old Male Patient

Chung MY, Park YS, Ryu SR, Ahn SB, Kim SH, Jo YJ, Han JK, Joo JE

Colorectal cancer is rare in teenagers, especially without known risk factors. Colon cancer in young age is more likely to be diagnosed at advanced-stage, to present unfavorable tumor histology such...
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Growth and Invasion of Sporadic Colorectal Adenocarcinomas in Terms of Genetic Change

Roh SA, Choi EY, Cho DH, Jang SJ, Kim SY, Kim YS, Kim JC

Integrative genetic changes were examined in relation to tumor growth and progression of sporadic colorectal cancers. Ninety-two sporadic colorectal cancer patients and 12 human colorectal cancer cell lines were evaluated....
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A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism

Kang MK, Lee JM, Kim JH, Lee MY, Kim JH, Moon SD, Han JH, Chang SA

Sporadic medullary thyroid carcinoma (MTC) is the most common form of MTC and somatic RET proto-oncogene mutations account for approximately 25% of the patients with sporadic MTC. However, other pathogeneses...
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Thrombolytic Therapy of Pulmonary Thromboembolism in Probable Sporadic Creutzfeldt-Jakob Disease

Chang JY, Jung JH, Chang YH, Kim SY

  • KMID: 2191926
  • J Korean Neurol Assoc.
  • 2009 Nov;27(4):405-408.
The effect of intravenous recombinant tissue plasminogen activator for patients with Creutzfeldt-Jakob disease (CJD) has yet to be determined. A woman with rapidly progressive cognitive decline, cerebellar dysfunction, and extrapyramidal...
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Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors

Chae YS, Kim HJ, Kim SW, Chang MC

PURPOSE: MEN1 gene mutation causes multiple endocrine neoplasia type 1. It also suggests that somatic MEN1 gene mutation plays a role in sporadic endocrine tumor. In this study, we examined...
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A Case of Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease

Kim DH, Kim SY, Yang YS, Jeong SH, Kim JS, Hwang JM

  • KMID: 2337675
  • J Korean Ophthalmol Soc.
  • 2008 Sep;49(9):1548-1552.
PURPOSE: To report a case of the Heidenhain variant of sporadic Creutzfeldt-Jakob disease (CJD), predominantly characterized by visual impairment at onset. CASE SUMMARY: History-taking, ophthalmologic examination, neurologic examination, cerebrospinal fluid examination...
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Clinicopathologic Features of Sporadic Colorectal Cancer with MLH1/MSH2 Loss of Expression - Reduced Likelihood of Metastases

Park JW, Chang HJ, Jung KH, Kim DY, Sohn DK, Han KS, Hong CW, Lim SB, Choi HS, Jeong SY, Lee SJ

PURPOSE: This study was designed to determine the frequency of MMR defective sporadic colorectal cancer (CRC) by using immunohistochemistry and to investigate the correlation between the MMR status and the...
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Efficacy of hMLH1/hMSH2 Immunohistochemical Staining as Representative Index for Microsatellite Instability Status in Sporadic Colorectal Cancer

Jung SH, Kim HC, Kim JS, Choi J, Yu CS, Kim JC

  • KMID: 2199241
  • J Korean Soc Coloproctol.
  • 2006 Jun;22(3):184-191.
PURPOSE: Sporadic colorectal cancer with micosatellite instability (MSI) is supposed to have a distinct molecular profile, distinct clinocopathologic feature, and a distinct prognosis. However, the test for MSI is still...
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Relation between the Low Molecular Weight Cyclin E and Mutator Phenotype in Sporadic Colorectal Cancer

Park DG

  • KMID: 1940535
  • J Korean Surg Soc.
  • 2005 Sep;69(3):224-230.
PURPOSE: Cyclin E/CDK2 complexes are thought to play critical roles in multiple cell cycle events, including DNA replication, centrosome duplication, and activation of the E2F transcriptional program. Deregulation of the...
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Genopathogenesis of Colorectal Cancer

Kim JC

  • KMID: 1940530
  • J Korean Surg Soc.
  • 2005 Sep;69(3):189-198.
Cancer occurs from the functional derangements of complex genomic structure. Colorectal carcinogenesis, from hereditary colorectal cancers, has been widely investigated by excavating their related genes. Colorectal carcinogenesis is significantly implicated...
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Sporadic Congenital Oculomotor Apraxia Associated with Ataxia

Hong S, Han S, Lee J

  • KMID: 2207852
  • J Korean Ophthalmol Soc.
  • 2005 Aug;46(8):1368-1373.
PURPOSE: To evaluate the natural clinical course of sporadic congenital oculomotor apraxia associated with ataxia. METHODS: In a retrospective study from June 1994 to March 2004, 3 patients with sporadic...
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Germline Mutations and polymorphisms of BRCA1 and BRCA2 in Sporadic Ovarian Carcinoma

Nam EJ, Kim YT, Kim SH, Kim JH, Koo JS, Kim SW, Kim JW, Kim HK

  • KMID: 1594570
  • Korean J Obstet Gynecol.
  • 2005 Jun;48(6):1466-1475.
OBJECTIVE: Mutations in the BRCA1 and BRCA2 genes predispose women to ovarian and/or breast cancer. The purposes of this study were firstly to investigate the presence of BRCA1 and BRCA2...
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Analysis of Microsatellite Instability and hMLH1, hMSH2 and Bax Expression in Sporadic Endometrioid Endometrial Adenocarcinoma

Park JE, Park HM, Ryu HJ, Lee SW, Han WS, Kim SC

  • KMID: 2244922
  • Korean J Gynecol Oncol Colposc.
  • 2004 Mar;15(1):3-14.
OBJECTIVE : We aimed to assess the incidence and clinicopathologic significance of microsatellite instability (MSI) and to analyze the loss of protein expression of hMLH1, hMSH2 and Bax gene in...
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