- Tubulopathy: the clinical and genetic approach in diagnosis
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Joung J, Cho H
- KMID: 2544232
- Child Kidney Dis.
- 2023 Jun;27(1):11-18.
- doi: 10.3339/ckd.23.001
Remarkable advances in genetic diagnosis expanded our knowledge about inherited tubulopathies and other genetic kidney diseases. This review suggests a simple categorization of inherited tubular disease, clarifies the concept of... -
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- Hereditary Leiomyomatosis and Renal Cell Cancer: A Case Report of Pilar Leiomyomatosis with History of Kidney Cancer and Review of the Literature
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Kim JW, Shin JW, Cho A, Huh CH
- KMID: 2542710
- Ann Dermatol.
- 2023 May;35(Suppl1):S14-S18.
- doi: 10.5021/ad.20.287
Pilar leiomyoma or piloleiomyoma is a benign neoplasm of the smooth muscle arising from the arrector pili muscle. It manifests as brown to red firm papulonodules with sites of predilection... -
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- Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response
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Hong JY, Cho HJ, Yun KH, Lee YH, Kim SH, Baek W, Kim SK, Lee Y, Choi YL, Kwon M, Kim HS, Lee J
- KMID: 2541254
- Cancer Res Treat.
- 2023 Apr;55(2):671-683.
- doi: 10.4143/crt.2022.251
Purpose Even though pazopanib, a multitargeted tyrosine kinase inhibitor, has been approved for refractory soft tissue sarcoma (STS), little is known about the molecular determinants of the response to pazopanib.... -
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- First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report
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Yeom GE, Jung YH, Kim SY, Choi SA, Kim H, Choi CW
- KMID: 2536660
- Neonatal Med.
- 2022 Nov;29(4):141-148.
- doi: 10.5385/nm.2022.29.4.141
Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth. RMFSL is... -
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- Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review
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Güvenoğlu M, Şimşek-Kiper PÖ, Koşukcu C, Taskiran EZ, Saltık-Temizel İN, Gucer S, Utine E, Boduroğlu K
- KMID: 2535161
- Pediatr Gastroenterol Hepatol Nutr.
- 2022 Nov;25(6):441-452.
- doi: 10.5223/pghn.2022.25.6.441
Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic... -
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- Hyaluronan Synthase 1: A Novel Candidate Gene Associated With Late-Onset Non-syndromic Hereditary Hearing Loss
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Umugire A, Lee S, Lee CJ, Choi Y, Kim T, Cho HH
- KMID: 2532986
- Clin Exp Otorhinolaryngol.
- 2022 Aug;15(3):220-229.
- doi: 10.21053/ceo.2022.00038
Objectives. Hyaluronan synthase 1 (HAS1) is a membrane-bound protein that is abundant in the epidermis and dermis, and it is important for skin function. However, its association with hearing loss... -
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- A Familial Case with Phenotypic Differences in a CAV3 Pathogenic Variant
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Sung MS, Lee SA, Choi BJ, Choi YC, Park HJ
- KMID: 2531573
- Korean J Neuromuscul Disord.
- 2022 Jun;14(1):16-19.
- doi: 10.46518/kjnmd.2022.14.1.16
We reported an age 32 male with progressive proximal muscle weakness. The serum creatine kinase was 1,908 IU/L. The muscle biopsy from biceps brachii muscle showed nonspecific myopathic changes. The... -
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- Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome
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Kerkeni N, Kharrat M, Maazoul F, Boudabous H, M’rad R, Trabelsi M
- KMID: 2526873
- J Clin Neurol.
- 2022 Mar;18(2):214-222.
- doi: 10.3988/jcn.2022.18.2.214
Background and Purpose Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused... -
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- Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm
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Song Y, Lee JK, Lee JO, Kwon B, Seo EJ, Suh DC
- KMID: 2523740
- Korean J Radiol.
- 2022 Jan;23(1):101-111.
- doi: 10.3348/kjr.2021.0467
Objective: Familial intracranial aneurysms (FIAs) are found in approximately 6%–20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of... -
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- Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation
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Kim SJ, Lee JE, Kwak HD, Kang MS, Yu SA, Seo GH, Oh SH, Chung WY
- KMID: 2524515
- Child Kidney Dis.
- 2021 Dec;25(2):128-132.
- doi: 10.3339/jkspn.2021.25.2.128
Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even... -
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- Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing
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Kim JJ, Hong YM, Yun SW, Lee KY, Yoon KL, Han MK, Kim GB, Kil HR, Song MS, Lee HD, Ha KS, Jun HO, Choi BO, Oh YM, Yu JJ, Jang GY, Lee JK, The Korean Kawasaki Disease Genetics Consortium
- KMID: 2524329
- Genomics Inform.
- 2021 Dec;19(4):e38.
- doi: 10.5808/gi.21046
Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of... -
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- Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report
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Lee H, Oh J, Han J, Lee MJ, Park J, Baek SH, Yu R, Eun HS, Park MS, Shin JE
- KMID: 2524278
- Perinatology.
- 2021 Dec;32(4):208-211.
- doi: 10.14734/PN.2021.32.4.208
Gaucher disease (GD) is a rare autosomal recessive genetic disease. The symptoms and age of onset vary depending on the subtype. Type 2 GD is potentially lethal, and the mean... -
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- Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing
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Kang HJ, Lee HY, Kim KT, Kim JW, Lee JY, Kim SW, Kim JC, Shin IS, Kim N, Kim JM
- KMID: 2522972
- Clin Psychopharmacol Neurosci.
- 2021 Nov;19(4):683-694.
- doi: 10.9758/cpn.2021.19.4.683
Objective: Sudden traumatic physical injuries often cause psychological distress, which may be associated with chronic disability. Although considerable effort has been expended to identify genetic predictors of post-traumatic stress disorder... -
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- Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis
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Kim M, Kwon CH, Jang MH, Kim JM, Kim EH, Jeon YK, Kim SS, Choi KU, Kim IJ, Park M, Kim BH
- KMID: 2521956
- Endocrinol Metab.
- 2021 Oct;36(5):1086-1094.
- doi: 10.3803/EnM.2021.1132
Background: Early identification of patients with high-risk papillary thyroid microcarcinoma (PTMC) that is likely to progress has become a critical challenge. We aimed to identify somatic mutations associated with lateral... -
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- Practical Diagnostic Approach to Myopathy
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Lee JM
- KMID: 2518420
- Korean J Neuromuscul Disord.
- 2021 Jun;13(1):1-3.
- doi: 10.46518/kjnmd.2021.13.1.1
Hereditary myopathy is characterized by the weakness of skeletal muscles and is associated with various genetic defects. The efficiency of a genetic diagnosis has been archived with wide application of... -
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- MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome
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Hong KT, Lim BC, Moon JS, Ko JS
- KMID: 2516042
- Korean J Gastroenterol.
- 2021 May;77(5):248-252.
- doi: 10.4166/kjg.2020.170
Mitochondrial DNA (mtDNA) depletion syndrome comprises diseases resulting from a deficiency of proteins involved in mtDNA synthesis. MPV17 is a mitochondrial membrane protein whose mutation causes mitochondrial deoxynucleotide insufficiency. MPV17-related hepatocerebral... -
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- A new type of oculocutaneous albinism with a novel OCA2 mutation
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Lee SY, Lee EJ, Byun JC, Jang KM, Kim SY, Hwang SK
- KMID: 2515192
- Yeungnam Univ J Med.
- 2021 Apr;38(2):160-164.
- doi: 10.12701/yujm.2020.00339
Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing... -
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- Elucidating molecular mechanisms of acquired resistance to BRAF inhibitors in melanoma using a microfluidic device and deep sequencing
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Han J, Jung Y, Jun Y, Park S, Lee S
- KMID: 2514706
- Genomics Inform.
- 2021 Mar;19(1):e2.
- doi: 10.5808/gi.20074
BRAF inhibitors (e.g., vemurafenib) are widely used to treat metastatic melanoma with the BRAF V600E mutation. The initial response is often dramatic, but treatment resistance leads to disease progression in... -
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- Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing
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Cho EH, Ki CS, Yun SA, Kim SY, Jhun BW, Koh WJ, Huh HJ, Lee NY
- KMID: 2513213
- Yonsei Med J.
- 2021 Mar;62(3):224-230.
- doi: 10.3349/ymj.2021.62.3.224
Purpose: Nontuberculous mycobacteria (NTM) is ubiquitous in the environment, but NTM lung disease (NTM-LD) is uncommon. Since exposure to NTM is inevitable, patients who develop NTM-LD are likely to have... -
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- Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDistiller
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Ryu HS, Lee YJ, Lee JM
- KMID: 2510000
- J Genet Med.
- 2020 Dec;17(2):89-91.
- doi: 10.5734/JGM.2020.17.2.89
Charcot-Marie-Tooth (CMT) disease can be divided mainly into demyelination and axonopathy based on the results of the electrophysiological study. Mitofusin 2, encoded by MFN2 gene, has a crucial role in... -
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