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Minilaparotomy cholecystectomy

Hong YB, Baik YK, Chang TS

  • KMID: 2240758
  • Korean J Gastroenterol.
  • 1993 Dec;25(6):1261-1267.
No abstract available.
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A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease

Hong JM, Jeon H, Choi YC, Cho H, Hong YB, Park HJ

Background and Purpose Pathogenic variants in B4GALNT1 have been reported to cause hereditary spastic paraplegia 26. This study has revealed that a novel compound heterozygous pathogenic variant in B4GALNT1 is associated...
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A Case of Acute Typhlitis Complicating Drug-induced Agranulocytosis

Jeong YS, Bae HH, Jang ID, Lee JM, Hur D, Yoon MS, Lee SR, Hong YB, Huh K, Lee JM

  • KMID: 2080513
  • Korean J Med.
  • 1997 May;52(5):672-677.
Increasingly aggressive chemotherapy regimens, advances in transplantation technology, and the acquired immunodeficiency syndrome have resulted in a growing number of immunocompromised patients. Infections are a major cause of morbidity and...
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Gene Therapy Options as New Treatment for Inherited Peripheral Neuropathy

Thenmozhi R, Lee JS, Park NY, Choi BO, Hong YB

  • KMID: 2503979
  • Exp Neurobiol.
  • 2020 Jun;29(3):177-188.
  • doi: 10.5607/en20004
Inherited peripheral neuropathy (IPN) is caused by heterogeneous genetic mutations in more than 100 genes. So far, several treatment options for IPN have been developed and clinically evaluated using small...
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Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease: implications for neuronal loss in Gaucher disease

Kim EY, Hong YB, Go SH, Lee B, Jung SC

  • KMID: 1110118
  • Exp Mol Med.
  • 2006 Aug;38(4):348-356.
Gaucher disease is a glycosphingolipid storage disease caused by deficiency of glucocerebrosidase, resulting in the accumulation of glucosylceramide in lysosomes. The neuronopathic forms of this disease are associated with neuronal...
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Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Choi YJ, Hyun YS, Nam SH, Koo H, Hong YB, Chung KW, Choi BO

BACKGROUND: Mutations in the gene encoding periaxin (PRX) are known to cause autosomal recessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean...
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Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing

Park HJ, Choi YC, Kim SM, Kim SH, Hong YB, Yoon BR, Chung KW, Choi BO

BACKGROUND: We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. CASE REPORT: The affected individuals presented...
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Upregulation of Proinflammatory Cytokines in the Fetal Brain of the Gaucher Mouse

Hong YB, Kim EY, Jung SC

Gaucher disease is caused by a deficiency of glucocerebrosidase. Patients with Gaucher disease are divided into three major phenotypes: chronic nonneuronopathic, acute neuronopathic, and chronic neuronopathic, based on symptoms of...
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Dynamic Transcriptional Events in Distal Sural Nerve Revealed by Transcriptome Analysis

Hong YB, Jung SC, Lee J, Moon HS, Chung KW, Choi BO

Compared with biochemical information available about the diseases in the central nervous system, that for peripheral neuropathy is quite limited primarily due to the difficulties in obtaining samples. Characterization of...
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Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy

Park J, Hyun YS, Kim YJ, Nam SH, Kim SH, Hong YB, Park JM, Chung KW, Choi BO

BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is caused by mutations in the gene encoding phosphoribosyl pyrophosphate synthetase I (PRPS1). There has been only one case report of CMTX5 patients....
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Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1

Choi YR, Jung SC, Shin J, Yoo SY, Lee JS, Joo J, Lee J, Hong YB, Choi BO

PURPOSE: Charcot-Marie-Tooth disease (CMT) is a peripheral neuropathy mainly divided into CMT type 1 (CMT1) and CMT2 according to the phenotype and genotype. Although molecular pathologies for each genetic causative...
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Inhibition of cell proliferation by a resveratrol analog in human pancreatic and breast cancer cells

Hong YB, Kang HJ, Kim HJ, Rosen EM, Dakshanamurthy S, Rondanin R, Baruchello R, Grisolia G, Daniele S, Bae I

Resveratrol has been reported to possess cancer preventive properties. In this study, we analyzed anti-tumor activity of a newly synthesized resveratrol analog, cis-3,4',5-trimethoxy-3'-hydroxystilbene (hereafter called 11b) towards breast and pancreatic...
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miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22

Lee JS, Kwak G, Kim HJ, Park HT, Choi BO, Hong YB

Charcot-Marie Tooth disease type 1A (CMT1A), the major type of CMT, is caused by duplication of peripheral myelin protein 22 (PMP22) gene whose overexpression causes structural and functional abnormalities in...
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