- A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
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Koh HJ, Jwa NS, Kim SS, Lee SC, Kwon OW
- KMID: 1099074
- Korean J Ophthalmol.
- 2006 Mar;20(1):62-64.
- doi: 10.3341/kjo.2006.20.1.62
PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with... -
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- Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
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Yi SE, Hong YH, Kim DH, Lee JS, Kim GH, Yoo HW, Joo IS
- KMID: 1966485
- J Korean Neurol Assoc.
- 2011 Nov;29(4):365-367.
Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense... -
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- Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family
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Zheng Y, Liu F, Yang Y, Liang Y
- KMID: 2395195
- Ann Dermatol.
- 2017 Dec;29(6):801-803.
- doi: 10.5021/ad.2017.29.6.801
No abstract available. -
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- A Family with A Missense Mutation in the SCN5A Gene
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Shin CH, Kim NH, Kim KH, Yoo SS, Choi YB, Oh SK, Hong KM, Jeong JW, Paik MK
- KMID: 2029618
- Korean Circ J.
- 2003 Feb;33(2):150-154.
- doi: 10.4070/kcj.2003.33.2.150
Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST-segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations... -
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- Effect of HBV Core Gene Mutations on the Severity of Acute Viral Hepatitis B
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Kim YS, Kim YS, Cha SW, Moon JH, Cho YD, Lee MS, Byun KS, Shim CS, Suh DJ, Lee CH
- KMID: 1598372
- Korean J Gastroenterol.
- 2001 Feb;37(2):98-105.
BACKGROUND/AIMS: Missense mutation of hepatitis B virus (HBV) core gene has been reported to be frequent in fulminant hepatitis (FH) B. This study was carried out to investigate whether there... -
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- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
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Choi JY, Kim SE, Lee SE, Kim SC
- KMID: 2418801
- Yonsei Med J.
- 2018 Mar;59(2):341-344.
- doi: 10.3349/ymj.2018.59.2.341
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential... -
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- X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene
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Choi BO, Sunwoo IN, Park KD, Kim YJ, Choi KG, Lee MS, Hwang JH, Chung KW
- KMID: 2185720
- J Korean Neurol Assoc.
- 2004 Feb;22(1):76-79.
X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected... -
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- Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients
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Kim HW, Lee HM, Hwang SH, Ahn SG, Lee KA, Jeong J
- KMID: 2353077
- J Breast Cancer.
- 2014 Mar;17(1):1-7.
PURPOSE: The p53 gene is one of the most frequently mutated genes in breast cancer. We investigated the patterns and biologic features of p53 gene mutation and evaluated their clinical... -
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- A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
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Kim JH, Cho SM, Chae JH
- KMID: 2375172
- Korean J Pediatr.
- 2017 Mar;60(3):94-97.
- doi: 10.3345/kjp.2017.60.3.94
Trimethylaminuria (TMAuria), known as “fish odor syndrome,†is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine... -
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- Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Choi BW, Park S, Kim HJ
- KMID: 2442856
- Dement Neurocogn Disord.
- 2016 Jun;15(2):52-54.
- doi: 10.12779/dnd.2016.15.2.52
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane... -
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- Polymorphism of UDP-glucuronosyltransferase Gene(UGT1A1) of Neonatal Hyperbilirubinemia in Korea
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Hong KW, Kang H, Kim IS, Kim JS, Kim ER, Lee HJ, Jin SY, Chung JH
- KMID: 2140973
- Korean J Pediatr.
- 2004 Jan;47(1):18-23.
PURPOSE: The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in whites and its metabolic basis has not been clearly explained. Recently, UDP-glucuronosyltransferase gene (UGT1A1) mutation... -
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- Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene
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Kim JY, Choi ES, Lee JC, Lee KU, Kim YJ, Kim SJ, Lee YW
- KMID: 1382662
- Korean J Intern Med.
- 2008 Mar;23(1):45-48.
- doi: 10.3904/kjim.2008.23.1.45
Resistance to thyroid hormone (RTH) is a syndrome characterized by reduced sensitivity to the thyroid hormone. It is generally caused by mutations in the thyroid hormone receptor beta (TRbeta) gene.... -
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- Molecular variants of the FSH receptor exon 10 (Thr307Ala; A919G) in premature ovarian failure (POF) women by PCR-SSCP
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Kim NK, Lee SH, Nam YS, Sohn TJ, Park SH, Park C, Ko JJ, Cha KY
- KMID: 2262030
- Korean J Obstet Gynecol.
- 2000 Jul;43(7):1144-1146.
OBJECTIVE: This study was performed to determine whether the FSH receptor mutation is present in infertile Korean patients with 46,XX premature ovarian failure (POF) women. METHODS: The variant of FSH receptor... -
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- Mutations of p53 Tumor Suppressor Gene in Spontaneous Canine Mammary Tumors
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Lee CH, Kweon OK
- KMID: 1097349
- J Vet Sci.
- 2002 Dec;3(4):321-325.
Mutation of the p53 tumor suppressor gene has been related in the pathogenesis of numerous human and canine cancers, including breast cancers and mammary tumors. We have investigated exons 5-8... -
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- Missense Mutationsof Hepatitis B Virus Core Gene in Chronic Hepatitis B Virus Carriers
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Kim YS, Kim YS, Cho YD, Kim JO, Cho JY, Kim HS, Lee JS, Lee MS, Hwang SG, Shim CS
- KMID: 2084884
- Korean J Gastroenterol.
- 1999 Jan;33(1):67-77.
BACKGROUND/AIMS: Missense mutations of HBV (hepatitis B virus) core gene have been reported to occur frequently in the immune clearance phase of chronic HBV infection. The present study was carried... -
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- A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
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Lee DH, Kim JK, Oh SE, Noh JW, Lee YK
- KMID: 1779244
- J Korean Med Sci.
- 2010 Nov;25(11):1680-1682.
- doi: 10.3346/jkms.2010.25.11.1680
Familial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not... -
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- Trichorhinophalangeal Syndrome Type III Associated with a Novel Missense Mutation in the TRPS1 Gene
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Roh D, Kim TW, Park SM, Lee HJ, Jin H, You HS, Shim WH, Kim GW, Kim HS, Kim BS, Kim MB, Ko HC
- KMID: 2436881
- Korean J Dermatol.
- 2018 Sep;56(8):494-498.
Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant hereditary disease caused by mutations in the TRPS1 or the EXT1 gene. Patients show 3 different forms (TRPS I-TRPS III) of this... -
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- A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
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Hong S, Lee CG
- KMID: 2435969
- J Genet Med.
- 2018 Jun;15(1):24-27.
- doi: 10.5734/JGM.2018.15.1.24
Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused... -
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- A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia
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Park G, Kim JH, Rhie SH, Lee ES, Noh SE
- KMID: 2312266
- Lab Med Online.
- 2015 Jan;5(1):38-43.
- doi: 10.3343/lmo.2015.5.1.38
Pseudohypoparathyroidism (PHP) is a group of genetic disorders in which the kidneys fail to respond to parathyroid hormone. Genetic defects in the GNAS complex locus lead to reduced Gsalpha (alpha-subunit... -
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- A Novel Missense Mutation of Keratin 17 Gene in a Chinese Family with Steatocystoma Multiplex
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Ha WW, Wang J, Wang W, Fu HY, Tang HY, Tang XF, Zhu J, Yin XY, Yang S, Zhang XJ
- KMID: 2265077
- Ann Dermatol.
- 2013 Nov;25(4):508-510.
- doi: 10.5021/ad.2013.25.4.508
No abstract available. -
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