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CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

Hong G, Park HD, Choi R, Jin DK, Kim JH, Ki CS, Lee SY, Song J, Kim JW

CYP21A2 mutation analysis of congenital adrenal hyperplasia (CAH) is challenging because of the genomic presence of a homologous CYP21A2 pseudogene and the significant incidence of pseudogene conversion and large deletions....
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Study of Modern Human Evolution via Comparative Analysis with the Neanderthal Genome

Ahmed M, Liang P

Many other human species appeared in evolution in the last 6 million years that have not been able to survive to modern times and are broadly known as archaic humans,...
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Molecular characterization of the feline T-cell receptor gamma alternate reading frame protein (TARP) ortholog

Weiss AT, von Deetzen MC, Hecht W, Reinacher , Gruber AD

  • KMID: 2391992
  • J Vet Sci.
  • 2012 Dec;13(4):345-353.
T-cell receptor gamma alternate reading frame protein (TARP) is expressed by human prostate epithelial, prostate cancer, and mammary cancer cells, but is not found in normal mammary tissue. To date,...
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Killer Cell Immunoglobulin-like Receptor (KIR) Analysis in Adult Korean Patients with Acute Myeloid Leukemia

Kim HJ, Choi Y, Jeong HY, Min WS, Kim CC, Kim TG

BACKGROUND: The prevalent natural killer (NK) cells induce alloreaction against leukemic cells during post-transplant. NK cell alloreactivity depends on the compatibility of killer cell immunoglobulin-like receptors (KIR) epitopes for graft-versus-host...
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Genotype of Steroid 21-Hydroxylase Gene and Clinical Characteristics in Patients with Congenital Adrenal Hyperplasia 21-Hydroxylase Deficiency

Ko JM, Choi JH, Kim GH, Yoo HW

  • KMID: 2321977
  • J Korean Soc Pediatr Endocrinol.
  • 2005 Jun;10(1):57-63.
PURPOSE: This study was undertaken to characterize clinical features of congenital adrenal hyperplasia (CAH) with steroid 21-hydroxylase deficiency, identify appropriate dose of hydrocortisone to normalize endocrine abnormalities, and correlate between...
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High Correlation between Alu Elements and the Conversion of 3' UTR of mRNAs Processed Pseudogenes

An HJ, Na D, Lee D, Lee KH, Bhak J

  • KMID: 2166170
  • Genomics Inform.
  • 2004 Jun;2(2):86-91.
Even though it represents 6 13% of human genomic DNA, Alu sequences are rarely found in coding regions. When in exon region, over 80 % of them are found in...
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The role of mycobacterial katG gene in activation of isoniazid

Kang TJ, Chae GT

  • KMID: 1584950
  • Korean Lepr Bull.
  • 2000 Dec;33(2):55-66.
Since Mycobacterium leprae, the causative organism of Leprosy, proliferate inside macrophages, it has been speculated that catalase encoded by the katG gene may protect acid-fast bacilli from the deleterious effects...
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Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients

Jin DK, Beck NS, Oh PS

  • KMID: 1963061
  • J Genet Med.
  • 1997 Sep;1(1):27-32.
Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia(CAH) and is caused by genetic impairment (CYP21B) of this enzyme. In the human genome, CYP21B is located within...
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Molecular Genetic Studies on the Human CYP21A2 Gene (1)

Park BK, Woo HO, Woo HW

  • KMID: 2461513
  • J Korean Soc Endocrinol.
  • 1994 Sep;9(3):219-227.
Congenital adrenal hyperplasia, especially due to steroid-12-hydroxylase(P450c21) deficiency, is one of the most common autosomal recessive inborn errors at adrenal steroidogenesis in Korean. Molecular genetic analysis has demonstrated that there...
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