- Pfeiffer Syndrome Type 2 with Sporadic Fibroblast Growth Factor Receptor 2 Mutation and Coccygeal Anomaly
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Lee JS, Choi JH, Lee YW, Gang MH, You SK, Shin HD, Chang MY
- KMID: 2421578
- Perinatology.
- 2018 Sep;29(3):128-132.
- doi: 10.14734/PN.2018.29.3.128
Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and anomalies of the face and extremities. A female newborn showing ocular proptosis and... -
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- A case of Apert's Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon IIIa Mutation
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Kim HS, Yang PS, Kang JY, Kim OY, Ku CH, Lee WM
- KMID: 2335506
- J Korean Pediatr Soc.
- 2000 Jul;43(7):1006-1011.
Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosornal dominant. The original description was... -
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- Expression of growth factor, extracellular matrix and antioxidant (N-acetylcysteine) effect in TGF beta1 treated rat lens system
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Park MS, Ahn CS, Hong YS
- KMID: 2206311
- J Korean Ophthalmol Soc.
- 2002 Dec;43(12):2543-2554.
PURPOSE: The objective of this study was to characterize transdifferentiated lens epithelial cells analyzed by reverse transcription-polymerase chain reaction (RT-PCR) for the expression of mRNAs encoding growth factors, growth factor... -
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- Moleculobiological Analysis of Fibroblast Growth Factor Receptors in Korean Patients with Craniosynostosis
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Lee JH, Tark MS, Lee YM, Kim YB
- KMID: 1961951
- J Korean Cleft Palate-Craniofac Assoc.
- 2002 Apr;3(1):45-49.
Fibroblast growth factor(FGF) play a critical role in bone growth and development, affecting both chondrogenesis and osteogenesis. The authors believe, many craniosynostosis disorders to be linked with activating mutations in... -
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- Mutation at exon 10 of the fibroblast growth factor receptor 3 (FGFR3) in a fetus with thanatophoric dysplasia type I (TDI)
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Yang WK, Park WI, Ko DS, Kim SH, Kim EK, Lee HJ
- KMID: 2261540
- Korean J Obstet Gynecol.
- 1999 Oct;42(10):2214-2220.
Thanatophoric dysplasia (TD) is a sporadic lethal type of skeletal dysplasia featuring micromelia, decreased thoracic dimension and macrocephaly. To date, several kinds of mutation in fibroblast growth factor receptor 3... -
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- Association Study of Fibroblast Growth Factor 2 and Fibroblast Growth Factor Receptors Gene Polymorphism in Korean Ossification of the Posterior Longitudinal Ligament Patients
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Jun JK, Kim SM
- KMID: 2190516
- J Korean Neurosurg Soc.
- 2012 Jul;52(1):7-13.
- doi: 10.3340/jkns.2012.52.1.7
OBJECTIVE: The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of fibroblast growth factor (FGF) 2 gene and fibroblast growth factor receptor (FGFR) genes are associated... -
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- Mutation Analysis in Fibroblast Growth Factor Receptor 3 Gene in Korean Children with Simple Craniosynostosis
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Park B, Son D, Kim D, Han K
- KMID: 2144764
- J Korean Soc Plast Reconstr Surg.
- 2001 Nov;28(6):637-640.
The C749G(Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. In this study, the blood of 9... -
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- Expression of Fibroblast Growth Factor Receptor 3 in the Recurrence of Non-Muscle-Invasive Urothelial Carcinoma of the Bladder
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Maeng YH, Eun SY, Huh JS
- KMID: 2314806
- Korean J Urol.
- 2010 Feb;51(2):94-100.
PURPOSE: The fibroblast growth factor receptor 3 (FGFR3) gene is known to be frequently mutated in noninvasive urothelial carcinomas of the bladder. In this study, we investigated the expression of... -
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- Expression of Fibroblast Growth Factor Receptors at Different Stages of Differentiation in Chick Embryo Chondrocytes
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Suh JY, Park JE, Kim WT
- KMID: 1654704
- Korean J Pediatr.
- 2004 Apr;47(4):439-447.
PURPOSE: Proliferative chondrocytes and prehypertrophic chondrocytes secrete significant amounts of type II collagen in an extracellular matrix. In contrast, hypertrophic chondrocytes secrete type X collagen. In addition, fibroblast growth factors... -
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- Mutation analysis of Fibroblast Growth Factor Receptor 3 (FGFR3) Gene in Korean Patients with Achondroplasia and Hypochondroplasia
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Shin S, Choi IH, Cho TJ, Ryang SW, Yoon KY, Kim J, Park SS
- KMID: 2089674
- Korean J Clin Pathol.
- 2001 Apr;21(2):164-168.
BACKGROUND: Achondroplasia is the most common form of dwarfism. The achondroplasia class consists of achondroplasia, thanatophoric dysplasia and hypochondroplasia. Clinical symptoms are variable, but the common gene, fibroblast growth factor... -
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- Immunohistochemical Study of TGFalpha , EGF and EGF Receptor on the Epithelial Tumors of the Skin
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Choi KC, Yoon YK, Oh CN
- KMID: 1681216
- Korean J Dermatol.
- 1994 Jun;32(3):438-445.
BACKGROUND: Several reports have demonstrated that TGFalpha and EGF are mitogenic for keratinocytes. Whenther its expression on epithelial tumors is a marker of malignancy or signifies an important step in... -
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- Treatment of Acne with Isotretinoin in a Patient with Apert's Syndrome
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Cha SH, Kim HS, Park YM, Suh BK, Kim HO
- KMID: 2247898
- Korean J Dermatol.
- 2009 May;47(5):576-579.
Apert's syndrome is a rare autosomal dominant disease that's characterized by craniosynostosis and severe syndactyly of both the hands and feet. It is caused by a mutation of the fibroblast... -
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- Expression of Fibroblast Growth Factor Receptor mRNAs according to Administration of Geneticin in Hypoxic Neuron Cell Culture
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Keum KH, Seo ES, Kim WT
- KMID: 1750713
- J Korean Soc Neonatol.
- 2007 Nov;14(2):162-169.
PURPOSE: Recently, Geneticin (G418) were known to exert neuroprotective effects in the hypoxic-ischemic (H-I) brain injury, but the mechanism is still unclear. The roles of fibroblast growth factor (FGF) and... -
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- A Case of Prenatally Diagnosed Apert syndrome
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Kwon SY, Chung JS, Jeong JH, Jang JB, Park JH, Kim KK, Park SW
- KMID: 2076667
- Korean J Obstet Gynecol.
- 2002 Jul;45(7):1268-1272.
Apert syndrome or acrocephalosyndactyly is a rare developmental deformity with a sporadic or autosomal dominant trait characterized by coronal craniosynostosis, midface hypoplasia, exorbitism, typical symmetrical syndactyly of both hands and... -
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- VEGF and Ki-67 Overexpression in Predicting Poor Overall Survival in Adenoid Cystic Carcinoma
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Park S, Nam SJ, Keam B, Kim TM, Jeon YK, Lee SH, Hah JH, Kwon TK, Kim DW, Sung MW, Heo DS, Bang YJ
- KMID: 2454328
- Cancer Res Treat.
- 2016 Apr;48(2):518-526.
- doi: 10.4143/crt.2015.093
PURPOSE: The purpose of this study was to evaluate potential prognostic factors in patients with adenoid cystic carcinoma (ACC). MATERIALS AND METHODS: A total of 68 patients who underwent curative surgery... -
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- Apert and Pfeiffer Syndromes: A Report of Two Cases
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Yoon SY, Yoon SW, Chung H
- KMID: 1961837
- J Korean Child Neurol Soc.
- 2013 Sep;21(3):200-207.
Craniosysostosis syndrome is caused by premature fusion of bones of skull and face during fetal development. It is related to Fibroblast growth factor receptor gene and most common craniosynostosis syndromes... -
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- Kidney and Calcium Homeostasis
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Jeon US
- KMID: 2134808
- Electrolyte Blood Press.
- 2008 Dec;6(2):68-76.
- doi: 10.5049/EBP.2008.6.2.68
Plasma calcium concentration is maintained within a narrow range (8.5-10.5 mg/dL) by the coordinated action of parathyroid hormone (PTH), 1,25(OH)2D3, calcitonin, and ionized calcium (iCa2+) itself. The kidney plays a... -
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- Case-Control Study on the Fibroblast Growth Factor Receptor 2 Gene Polymorphisms Associated with Breast Cancer in Chinese Han Women
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Liu CL, Hu XP, Guo WD, Yang L, Dang J, Jiao HY
- KMID: 1976373
- J Breast Cancer.
- 2013 Dec;16(4):366-371.
- doi: 10.4048/jbc.2013.16.4.366
PURPOSE: Genetic variation in fibroblast growth factor receptor 2 (FGFR2) is a newly described risk factor for breast cancer. This study aimed to evaluate the association of four single nucleotide... -
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- Roles of FGF-4 on the Differentiation of Trophoblast Stem (TS) Cells
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Choi MK, Oh JT, Oh JM
- KMID: 2030758
- Korean J Anat.
- 2004 Apr;37(2):141-148.
Fibroblast growth factor-4 (FGF-4) has various functions, affecting many signaling pathways, and leading to cellular proliferation and differentiation and to the regulation of cell migration, invasion, and angiogenesis. However, there... -
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- Expression of FGF-R and TGF-R in the Lateral Wall of the Guinea Pig
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Lee BD, Kim SH, Ahn HY, Chang HS, Kang JW
- KMID: 1886938
- Korean J Otolaryngol-Head Neck Surg.
- 1999 May;42(5):547-551.
BACKGROUND AND OBJECTIVES: The endolymph produced from cochlear lateral wall regulates fluid balance and maintains positive endocochlear potentials. Although many immunohistochemical studies on ion transport enzymes have been reported, their... -
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