- A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene
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Yasuda H, Kanazawa N, Matsuda M, Hamada T, Furumura M, Hashimoto , Nakama T, Furukawa F
- KMID: 2388923
- Ann Dermatol.
- 2017 Oct;29(5):642-644.
- doi: 10.5021/ad.2017.29.5.642
No abstract available. -
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- A Novel MUT Gene Mutation Detected in a Female Infant with Methylmalonic Acidemia
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Song WS, Song BJ, Park HD, Kim WD
- KMID: 2052179
- Neonatal Med.
- 2015 Feb;22(1):51-54.
- doi: 10.5385/nm.2015.22.1.51
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disease. MMA results from a deficiency of L-methylmalonyl-CoA mutase (encoded by MUT), its cofactor 5-deoxyadenosylcobalamin (MMAA, MMAB, and MMADHC), or a deficiency... -
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- Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report
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Cho EJ, Kim YC, Hwang JH, Lee H, Park SS, Kim SY, Kim S, Chin HJ
- KMID: 2224330
- Kidney Res Clin Pract.
- 2012 Mar;31(1):72-75.
Vascular access thrombosis is one of the major causes of morbidity in patients maintained on chronic hemodialysis. Thrombophilia has been recognized as a risk factor of vascular access thrombosis. The... -
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- A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy
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Kanwal S, Yoo DH, Tahir S, Lee SJ, Lee MH, Choi BO, Chung KW
- KMID: 2424194
- J Clin Neurol.
- 2018 Oct;14(4):591-593.
- doi: 10.3988/jcn.2018.14.4.591
No abstract available. -
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- Mutations of the NF1 gene in Korean Neurofibromatosis type 1 patients
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Park KC, Choi HO, Han WS, Hwang JH, Kim KH, Chung JH, Eun HC
- KMID: 2163872
- Ann Dermatol.
- 2001 Jun;13(2):102-105.
- doi: 10.5021/ad.2001.13.2.102
BACKGROUND: Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. OBJECTIVES: We analyzed the presence... -
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- Germline Mutations of BRCA1 Gene in Korean Breast and/or Ovarian Cancer Families
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Won YJ, Oh JH, Huang XH, Noh DY, Choe KJ, Kang SB, Kim LS, Noh MS, Paik NS, Yang DH, Oh SM, Lee SN, Park JG
- KMID: 2059138
- J Korean Cancer Assoc.
- 1997 Oct;29(5):713-723.
PURPOSE: To understand the involvement of BRCA1 gene in Korean breast and/or ovarian cancer families. MATERIALS AND METHODS: Germline mutations of BRCA1 gene were analyzed in 13 families which included... -
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- A Novel-Thalassemic Mutation, Codons 89/90-TG, Found in Two Korean Families
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Lee YJ, Park SS, Kim J, Joo SI, Park S, Choi JW, Kim SK, Han KS, Kim JQ, Kim EC, Park MH, Cho HI
- KMID: 2089673
- Korean J Clin Pathol.
- 2001 Apr;21(2):160-163.
We describe a novel-thalassemia mutation, the deletion of TG at codons 89/90 of the globin gene, found in two unrelated Korean families. Their hematological findings varied, but some patients showed... -
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- A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome
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Yang JH, Cha HH, Yoon HS
- KMID: 1811006
- J Genet Med.
- 2013 Dec;10(2):109-112.
- doi: 10.5734/JGM.2013.10.2.109
Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic... -
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- Genetic Risk Factors of Hemophilia A
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Shim YJ, Lee KS
- KMID: 2135606
- J Genet Med.
- 2010 Jun;7(1):1-8.
Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity... -
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- Gene Therapy for Muscular Dystrophies: Progress and Challenges
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Park KS, Oh D
- KMID: 1462846
- J Clin Neurol.
- 2010 Sep;6(3):111-116.
- doi: 10.3988/jcn.2010.6.3.111
Muscular dystrophies are groups of inherited progressive diseases of the muscle caused by mutations of diverse genes related to normal muscle function. Although there is no current effective treatment for... -
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- A nonsense PAX6 mutation in a family with congenital aniridia
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Han KH, Lee HJ, Ha IS, Kang HG, Cheong HI
- KMID: 2362243
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S1-S4.
- doi: 10.3345/kjp.2016.59.11.S1
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to... -
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- Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata
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Doo JW, Jang JH, Cho EH, Kim JK, Cho SC
- KMID: 2350289
- Neonatal Med.
- 2016 Aug;23(3):178-182.
- doi: 10.5385/nm.2016.23.3.178
X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications... -
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- Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
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Lee YS, Kim HK, Kim HR, Lee JY, Choi JW, Bae EJ, Oh PS, Park WI, Ki CS, Lee HJ
- KMID: 2284123
- Korean J Pediatr.
- 2014 May;57(5):240-244.
- doi: 10.3345/kjp.2014.57.5.240
Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations... -
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- Two Novel Mutations in the HSN2 Gene Identified in a Korean Patients with Hereditary Sensory Autonomic Neuropathy Type II
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Bae JS, Cho HJ, An JY, Kim BJ, Ki CS
- KMID: 1527879
- J Korean Neurol Assoc.
- 2007 May;25(2):251-254.
A 38-year-old Korean man was diagnosed with hereditary sensory and autonomic neuropathy (HSAN) type 2 because of his chronic sensory neuropathy and progressive acro-mutilation. Genetic analysis revealed that he was... -
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- Mutation of p53 Gene and Detection of Human Papillomavirus DNA in Larynx and Pharynx Cancers
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Park YH, Jo SH
- KMID: 2074285
- Korean J Otolaryngol-Head Neck Surg.
- 1997 May;40(5):699-709.
Mutations in the p53 tumor suppressor gene have been shown to be one of the most common genetic abnormalities in human cancers. Loss of p53 tumor suppressor gene function can... -
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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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- GATA1 Mutation in Transient Myeloproliferative Disorder of Down Syndrome
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Ha JS, Lee WM, Kim JH, Ryoo NH, Jeon DS, Kim JR, Kim HS, Choi BK
- KMID: 1485156
- Korean J Hematol.
- 2008 Mar;43(1):43-47.
- doi: 10.5045/kjh.2008.43.1.43
Children with Down syndrome (DS) have a higher risk of developing leukemia than do healthy children, and they especially have a higher risk for developing transient myeloproliferative disorder (TMD) or... -
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- A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
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Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK
- KMID: 2432276
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):229-234.
- doi: 10.6065/apem.2018.23.4.229
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate... -
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- Translational Read-Through of a Nonsense Mutation Causing Bartter Syndrome
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Cho HY, Lee BH, Cheong HI
- KMID: 2158027
- J Korean Med Sci.
- 2013 Jun;28(6):821-826.
- doi: 10.3346/jkms.2013.28.6.821
Bartter syndrome (BS) is classified into 5 genotypes according to underlying mutant genes and BS III is caused by loss-of-function mutations in the CLCNKB gene encoding for basolateral ClC-Kb. BS... -
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- Mutations of CDKN2 (MTS1/p16I(NK4A)) and MTS2/p15(INK4B) genes in human stomach, hepatocellular, and cholangio-carcinomas
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Kim JR, Kim SY, Lee BH, Kim SW, Kim HJ, Kim JH
- KMID: 2052790
- Exp Mol Med.
- 1997 Sep;29(3):151-156.
The CDKN2 (MTS1/p16(INK4A)) and MTS2/p15(INK4B) genes, encoding cyclin dependent kinase inhibitors, were found to be homozygously deleted at high frequency in cell lines from many different types of cancer and... -
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