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Mutations of the Norrie gene in Korean ROP infants

Kim JH, Yu YS, Kim J, Park SS

The present study was conducted to evaluate if there is a Norrie disease gene (ND gene) mutation involved in the retinopathy of prematurity (ROP), and to identify the possibility of...
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Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India

Kesari A, Idris MM, Chandak GR, Mittal B

  • KMID: 1056225
  • Exp Mol Med.
  • 2005 Jun;37(3):147-154.
Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but...
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Serotonin Transporter Gene Polymorphism in Healthy Adults and Patients with Irritable Bowel Syndrome

Lee DY, Park H, Kim WH, Lee SI, Seo YJ, Choi YC

  • KMID: 1111504
  • Korean J Gastroenterol.
  • 2004 Jan;43(1):18-22.
BACKGROUND/AIMS: Serotonin is thought to be an important neurotransmitter in the pathogenesis of irritable bowel syndrome (IBS). It is reported that functional polymorphism in the promotor region of the...
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Gene Expression Profiles in Genetically Different Mice Infected with Toxoplasma gondii: ALDH1A2, BEX2, EGR2, CCL3 and PLAU

Ismail HA, Quan JH, Wei Z, Choi IW, Cha GH, Shin DW, Lee YH, Song CJ

Toxoplasma gondii can modulate host cell gene expression; however, determining gene expression levels in intermediate hosts after T. gondii infection is not known much. We selected 5 genes (ALDH1A2, BEX2,...
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Serotonin transporter mRNA expression in the dorsal raphe nucleus of a tumor bearing mouse

Jahng JW, Choi SH, Cha MJ, Kim NY, Hwang SJ, Lee JH

  • KMID: 1033103
  • Exp Mol Med.
  • 2005 Feb;37(1):65-69.
This study was conducted to determine if an oral squamous cell carcinoma alters mRNA expression of serotonin transporter (5-HTT) in the central nervous system. KB cell line derived from a...
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Mutation analysis of the KAL Gene in Female Patients with Gonadotropin-Releasing Hormone Deficiency

Lee SH, Han JH, Cho SW, Lee WH, Cha KY, Lee MH

Isolated gonadotropin-releasing hormone (GnRH) deficiency, including Kallmann's syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH), is a congenital disorder, which is characterized by a functional deficit in hypothalamic GnRH secretion. Despite...
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Genome-Wide Association Study of Lung Cancer in Korean Non-Smoking Women

Kim JH, Park K, Yim SH, Choi JE, Sung JS, Park JY, Choi YY, Jeon HS, Park JY, Yoon HK, Kim YH, Yoo BS, Kim YT, Hu HJ, Chung YJ, Kim H, Sung SW, Hong YC

Lung cancer in never-smokers ranks as the seventh most common cause of cancer death worldwide, and the incidence of lung cancer in non-smoking Korean women appears to be steadily increasing....
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Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR

Lee TM, Kim SW, Lee KS, Jin HS, Koo SK, Jo I, Kang S, Jung SC

Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only...
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