- Cystic fibrosis lung disease: Current perspectives
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Jung JA
- KMID: 2469112
- Allergy Asthma Respir Dis.
- 2020 Jan;8(1):3-8.
- doi: 10.4168/aard.2020.8.1.3
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). These mutations alter the synthesis, processing, function, or... -
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- Localization of Cystic Fibrosis Transmembrane Conductance Regulator in Nasal Polyp Epithelial Cell
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Jang YJ, Cho JH, Lee JH, Lee CH
- KMID: 2074353
- Korean J Otolaryngol-Head Neck Surg.
- 1999 Feb;42(2):193-196.
BACKGROUND AND OBJECTIVES: Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel protein that plays an important role in electrolyte and water transport, whose kinetics and localization are altered... -
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- A case Report of a Classic Cystic fibrosis Pediatric Patient in Korea Carrying Very Rare CFTR Gene Mutations (D993Y and Q220X)
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Kim MJ, Kang JW, Lee JH, Kim KW, Sohn MH, Lee MG, Kim MJ, Kim KE
- KMID: 2315076
- Pediatr Allergy Respir Dis.
- 2011 Mar;21(1):61-66.
Cystic fibrosis is the most common autosomal recessive disease in Caucasian. Cystic fibrosis is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations that lead to dysfunction of chloride... -
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- Expression of Cystic Fibrosis Transmembrane Regulator in Nasal Polyps
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Kim ST, Hwang YJ, Jung HH, Hwang SJ
- KMID: 1977718
- Korean J Otolaryngol-Head Neck Surg.
- 1999 Nov;42(11):1385-1391.
BACKGROUND AND OBJECTIVES: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Nasal polyps are also prominent features of... -
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- The L441P Mutation of Cystic Fibrosis Transmembrane conductance Regulator and its Molecular Pathogenic Mechanisms in a Korean Patient with Cystic Fibrosis
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Gee HY, Kim CK, Kim SW, Lee JH, Kim JH, Kim KH, Lee MG
- KMID: 1713852
- J Korean Med Sci.
- 2010 Jan;25(1):166-171.
- doi: 10.3346/jkms.2010.25.1.166
Cystic fibrosis (CF) is an autosomal recessive disorder usually found in populations of white Caucasian descent. CF is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene.... -
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- Genetic Abnormality and Localization of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in Patients with Nasal Polyps
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Jang YJ, Oh CH, Lee CH
- KMID: 2297716
- J Rhinol.
- 2000 May;7(1):22-27.
BACKGROUND AND OBJECTIVES: Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel protein, its kinetics and localization are altered in cystic fibrosis. The purpose of this study was to... -
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- Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea
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Kim KW, Lee JH, Lee MG, Kim KH, Sohn MH, Kim KE
- KMID: 1779639
- Yonsei Med J.
- 2010 Nov;51(6):912-917.
- doi: 10.3349/ymj.2010.51.6.912
PURPOSE: Classic cystic fibrosis is now known part of cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders. These include a wide spectrum, from multi-system disorders, such as cystic fibrosis, to mono-symptomatic... -
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- Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency
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Choe YJ, Ko JS, Seo JK, Han JJ, Shim JO, Koh YY, Lee R, Ki CS, Kim JW, Kim JH
- KMID: 1713851
- J Korean Med Sci.
- 2010 Jan;25(1):163-165.
- doi: 10.3346/jkms.2010.25.1.163
Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF... -
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- Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis
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Ko JM, Kim GH, Kim KM, Hong SJ, Yoo HW
- KMID: 1783084
- J Korean Med Sci.
- 2008 Oct;23(5):912-915.
- doi: 10.3346/jkms.2008.23.5.912
Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians. The mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for... -
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- Report of a Korean Patient with Cystic Fibrosis, Carrying Q98R and Q220X Mutations in the CFTR Gene
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Koh WJ, Ki CS, Kim JW, Kim JH, Lim SY
- KMID: 1778446
- J Korean Med Sci.
- 2006 Jun;21(3):563-566.
- doi: 10.3346/jkms.2006.21.3.563
Although cystic fibrosis (CF) is one of the most frequently seen autosomal-recessive disorders in Caucasians, it is extremely rare in the Korean population. Recently, a 15-yr-old Korean boy was admitted... -
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- The Role of Genetic Mutation in the Pathogenesis of Pancreatitis
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Paik WH, Jang DK, Lee JK
- KMID: 2448627
- Korean J Pancreas Biliary Tract.
- 2018 Apr;23(2):49-53.
- doi: 10.15279/kpba.2018.23.2.49
10–30% of patients with pancreatitis can be categorized as idiopathic pancreatitis, and some of them may be due to genetic alterations. Since hereditary pancreatitis develops from pediatric patients with symptoms... -
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- The First Successful Lung Transplantation in a Korean Child with Cystic Fibrosis
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Noh SR, Lee E, Yoon J, Jung S, Yang SI, Yu J, Hong SJ
- KMID: 2396389
- J Korean Med Sci.
- 2017 Dec;32(12):2073-2078.
- doi: 10.3346/jkms.2017.32.12.2073
Cystic fibrosis (CF) is an autosomal recessive inherited multisystem disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Respiratory failure remains the most... -
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- Uridine-5'-Triphosphate Stimulates Chloride Secretion via Cystic Fibrosis Transmembrane Conductance Regulator and Ca2+-Activated Chloride Channels in Cultured Human Middle Ear Epithelial Cells
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Son EJ, Gee HY, Lee MG, Lee WS, Choi JY
- KMID: 2277285
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2011 Dec;54(12):840-846.
- doi: 10.3342/kjorl-hns.2011.54.12.840
BACKGROUND AND OBJECTIVES: Nucleotide binding to purinergic P2Y receptors contributes to the regulation of fluid and ion transport in the middle ear epithelial cells. Here, we investigated the regulatory mechanism... -
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- Molecular Mechanism of Pancreatic Bicarbonate Secretion
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Lee MG, Kim JW, Kim KH, Muallem S
- KMID: 2285241
- Korean J Physiol Pharmacol.
- 2002 Jun;6(3):131-138.
Thanks to recent progress in availability of molecular and functional techniques it became possible to search for the basic molecular and cellular processes that mediate and control HCO3- and fluid... -
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- The properties of voltage-sensitive chloride channels
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Jung SJ
- KMID: 1482456
- Hanyang Med Rev.
- 2008 Nov;28(4):4-10.
Chloride (Cl) channels are probably found in every cell, from bacteria to mammals. Cl channels are distributed both in the plasma membrane and in intracellular organelles. Three well established structural... -
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- F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients
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Jung YY, Ha HI, Jung SH, Lee MG, Lee HW, Yoon JH, Choi JW, Yeh BI
- KMID: 755114
- Exp Mol Med.
- 2001 Mar;33(1):29-31.
Mutations of the transmembrane conductance regulator (CFTR) gene in cystic fibrosis lead to dysfunction of the lung, pancreas, and sweat glands, etc. To investigate the possibility of the relationship between... -
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- Cystic Fibrosis in Korean Children: A Case Report Identified by a Quantitative Pilocarpine Iontophoresis Sweat Test and Genetic Analysis
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Ahn KM, Park HY, Lee JH, Lee MG, Kim JH, Kang IJ, Lee SI
- KMID: 1781745
- J Korean Med Sci.
- 2005 Feb;20(1):153-157.
- doi: 10.3346/jkms.2005.20.1.153
Cystic fibrosis (CF) is inherited as an autosomal recessive trait, and the mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene contributes to the CF syndrome. Although CF is common... -
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- Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis
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Jung H, Ki CS, Koh WJ, Ahn KM, Lee SI, Kim JH, Ko JS, Seo JK, Cha SI, Lee ES, Kim JW
- KMID: 1735858
- Korean J Lab Med.
- 2011 Jul;31(3):219-224.
- doi: 10.3343/kjlm.2011.31.3.219
BACKGROUND: Cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. The most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been well... -
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- Suppression of CFTR-mediated Cl- Secretion of Airway Epithelium in Vitamin C-deficient Mice
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Kim Y, Kim H, Yoo HY, Kang JS, Kim SJ, Kim JK, Cho HS
- KMID: 2157866
- J Korean Med Sci.
- 2011 Mar;26(3):317-324.
- doi: 10.3346/jkms.2011.26.3.317
Hyperoxic ventilation induces detrimental effects on the respiratory system, and ambient oxygen may be harmful unless compensated by physiological anti-oxidants, such as vitamin C. Here we investigate the changes in... -
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- CFTR, a rectifying, non-rectifying anion channel?
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Quinton PM, Reddy MM
- KMID: 1026937
- J Korean Med Sci.
- 2000 Aug;15(Suppl):S17-S20.
- doi: 10.3346/jkms.2000.15.S.S17
No abstract available. -
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