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Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of...
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A Novel RUNX2 Mutation in a Korean Family with Cleidocranial Dysplasia

Lee JW, Song J, Shin TJ, Hyun HK, Kim YJ, Lee SH, Kim J, Kim JW

Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription...
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Functional Characterization of Pharmcogenetic Variants of Human Cytochrome P450 2C9 in Korean Populations

Cho MA, Yoon JG, Kim V, Kim H, Lee R, Lee MG, Kim D

Human cytochrome P450 2C9 is a highly polymorphic enzyme that is required for drug and xenobiotic metabolism. Here, we studied eleven P450 2C9 genetic variants—including three novel variants F69S, L310V,...
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Generation of knockout mouse models of cyclin-dependent kinase inhibitors by engineered nuclease-mediated genome editing

Park BM, Roh JI, Lee J, Lee HW

Cell cycle dysfunction can cause severe diseases, including neurodegenerative disease and cancer. Mutations in cyclin-dependent kinase inhibitors controlling the G1 phase of the cell cycle are prevalent in various cancers....
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK

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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BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea

Kim DH, Cho CH, Kwon SY, Ryoo NH, Jeon DS, Lee W, Ha JS

OBJECTIVE: We performed small-scale mutation and large genomic rearrangement (LGR) analysis of BRCA1/2 in ovarian cancer patients to determine the prevalence and the characteristics of the mutations. METHODS: All ovarian cancer...
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A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy

Kanwal S, Yoo DH, Tahir S, Lee SJ, Lee MH, Choi BO, Chung KW

No abstract available.
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Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

Choi R, Park HD, Ko JM, Lee J, Lee DH, Hong SJ, Ki CS, Lee SY, Kim JW, Song J, Choe YH

BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS:...
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A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea

Kim JH, Cho SM, Chae JH

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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Clinical Manifestations and Treatment in Korean Patients with X-Linked Agammaglobulinemia

Cho H, Kim JG

PURPOSE: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. The aim of this study was to investigate the clinical manifestations, molecular...
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Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

Kim KS, Choi HJ, Jang W, Chae H, Kim M, Moon SW

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2,...
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A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene

Yasuda H, Kanazawa N, Matsuda M, Hamada T, Furumura M, Hashimoto , Nakama T, Furukawa F

No abstract available.
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Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

Choi R, Park HD, Yang M, Ki CS, Lee SY, Kim JW, Song J, Chang YS, Park WS

Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs...
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Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata

Doo JW, Jang JH, Cho EH, Kim JK, Cho SC

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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An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients

Park KY, Li K, Seok J, Seo SJ

Research of the FLG mutation in various ethnic groups revealed non-overlapping mutation patterns. In addition, Japanese and Chinese atopic patients showed somewhat different mutations. These ethnic differences make the research...
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A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome

Park MJ, Lee DH, Shin YL, Hong YH

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component...
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STEP signaling pathway mediates psychomotor stimulation and morphine withdrawal symptoms, but not for reward, analgesia and tolerance

Kim YJ, Kang Y, Park HY, Lee JR, Yu DY, Murata T, Gondo Y, Hwang JH, Kim YH, Lee CH, Rhee M, Han PL, Chung BH, Lee HJ, Kim KS

Striatal-enriched protein tyrosine phosphatase (STEP) is abundantly expressed in the striatum, which strongly expresses dopamine and opioid receptors and mediates the effects of many drugs of abuse. However, little is...
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A nonsense PAX6 mutation in a family with congenital aniridia

Han KH, Lee HJ, Ha IS, Kang HG, Cheong HI

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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Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1

Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ

Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it...
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A Novel MUT Gene Mutation Detected in a Female Infant with Methylmalonic Acidemia

Song WS, Song BJ, Park HD, Kim WD

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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