- Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors
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Park J, Yoo HM, Sul HJ, Shin S, Lee SW, Kim JG
- KMID: 2471923
- J Gastric Cancer.
- 2020 Mar;20(1):29-40.
- doi: 10.5230/jgc.2020.20.e2
PURPOSE: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors.... -
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- Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome
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Albalawi A, Hashmi JA, Alfadhli F, Almatrafi , Ramzan K, Basit S
- KMID: 2467206
- Ann Dermatol.
- 2020 Feb;32(1):77-80.
- doi: 10.5021/ad.2020.32.1.77
No abstract available. -
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- ABO*B3.01 Found in the A1B3 Phenotype Showing ABO Discrepancy: The First Case in Korea
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Kim N, Yu H, Lee J, Kim DS, Lee HS, Chung YN, Cho YG, Cho D
- KMID: 2470582
- Korean J Blood Transfus.
- 2019 Dec;30(3):236-240.
- doi: 10.17945/kjbt.2019.30.3.236
B₃ is a rare finding, but it is most common in the B subgroup, which been reported as being 0.025% of the total B group in Koreans. ABO*B3.01 is a... -
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- Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2
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Kim YO, Lee YY, Kim MK, Woo YJ
- KMID: 2470101
- J Genet Med.
- 2019 Dec;16(2):71-75.
- doi: 10.5734/JGM.2019.16.2.71
Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex... -
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- Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature
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Cascais M, Pereira E, Vieira A, Venâncio , Ramos L, Moleiro P
- KMID: 2468730
- Ann Pediatr Endocrinol Metab.
- 2019 Dec;24(4):262-266.
- doi: 10.6065/apem.2019.24.4.262
Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of... -
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- First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)
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Lee CG, Jang JH, Seo JY
- KMID: 2468728
- Ann Pediatr Endocrinol Metab.
- 2019 Dec;24(4):253-256.
- doi: 10.6065/apem.2019.24.4.253
Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most... -
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- Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage
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Kim HJ, Nam MS, Choo HK, Kim SH
- KMID: 2466193
- J Korean Ophthalmol Soc.
- 2019 Dec;60(12):1339-1343.
- doi: 10.3341/jkos.2019.60.12.1339
PURPOSE: To report a case of recurrent intraocular hemorrhage due to type A hemophilia in a female patient without any previous medical history. CASE SUMMARY: A 51-year-old female patient without any... -
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- Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy
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Disha K, Schulz S, Breuer M, Owais T, Girdauskas E, Kuntze T
- KMID: 2460473
- Korean J Thorac Cardiovasc Surg.
- 2019 Oct;52(5):376-379.
- doi: 10.5090/kjtcs.2019.52.5.376
Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with... -
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- Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
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Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U
- KMID: 2454291
- Cancer Res Treat.
- 2019 Jul;51(3):992-1000.
- doi: 10.4143/crt.2018.356
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 Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress
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Namgung DW, Hong JM, Lee JH, Park HJ, Choi YC
- KMID: 2454845
- J Korean Neurol Assoc.
- 2019 May;37(2):174-177.
- doi: 10.17340/jkna.2019.2.10
Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent... -
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- Association between p53 Expression and Amount of Tumor-Infiltrating Lymphocytes in Triple-Negative Breast Cancer
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Lee M, Park IA, Heo SH, Kim YA, Gong G, Lee HJ
- KMID: 2449341
- J Pathol Transl Med.
- 2019 May;53(3):180-187.
- doi: 10.4132/jptm.2019.02.08
BACKGROUND: Most triple-negative breast cancers (TNBCs) have a high histologic grade, are associated with high endoplasmic stress, and possess a high frequency of TP53 mutations. TP53 missense mutations lead to... -
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- X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
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Lee JM, Shin JH
- KMID: 2435951
- J Genet Med.
- 2018 Dec;15(2):107-109.
- doi: 10.5734/JGM.2018.15.2.107
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not... -
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- Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene
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Cho WK, Ahn MB, Jang W, Chae H, Kim M, Suh BK
- KMID: 2432285
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):235-239.
- doi: 10.6065/apem.2018.23.4.235
Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are... -
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- A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution
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Heo K, Lim SM, Nahm M, Kim YE, Oh KW, Park HT, Ki CS, Kim SH, Lee S
- KMID: 2430111
- Exp Neurobiol.
- 2018 Dec;27(6):550-563.
- doi: 10.5607/en.2018.27.6.550
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is frequently linked to microtubule abnormalities and mitochondrial trafficking defects. Whole exome sequencing (WES) of patient-parent trios has proven to... -
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- A Case of Pediatric Unprovoked Deep Vein Thrombosis due to Combined Hereditary Thrombophilia of Antithrombin III and Protein S Deficiency
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Kim JY, Kang IS, Kim HJ
- KMID: 2435413
- Clin Pediatr Hematol Oncol.
- 2018 Oct;25(2):185-190.
- doi: 10.15264/cpho.2018.25.2.185
Unprovoked deep vein thrombosis (DVT) is uncommon in pediatric patients and, among those, combined hereditary thrombophilia is particularly rare. We present a 9-year-old Korean boy who developed lower extremity pain... -
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- A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
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Tariq H, Imran R, Naz S
- KMID: 2424178
- J Clin Neurol.
- 2018 Oct;14(4):498-504.
- doi: 10.3988/jcn.2018.14.4.498
BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in... -
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- Primary Myelofibrosis with MPL S505N Mutation: The First Case Reported in Korea
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Kim UJ, Lee HJ, Choi IS, Kang SH, Jang SJ, Moon DS, Park G
- KMID: 2421007
- Lab Med Online.
- 2018 Oct;8(4):167-170.
- doi: 10.3343/lmo.2018.8.4.167
MPL mutation is an important molecular marker in myeloproliferative neoplasms (MPN). Although MPL W515 is a hot spot for missense mutations in MPN, MPL S505 mutations have been reported in... -
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- Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
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Kim SY, Lee Y, Kang YE, Kim JM, Joung KH, Lee JH, Kim KS, Kim HJ, Ku BJ, Shong M, Yi HS
- KMID: 2447028
- Endocrinol Metab.
- 2018 Sep;33(3):380-386.
- doi: 10.3803/EnM.2018.33.3.380
BACKGROUND: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely... -
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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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- Two Korean Cases of Hereditary Spherocytosis Caused by Mutations in SLC4A1
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Cho H, Lee JW, Chung NG, Lee SE, Jang W, Kim M, Han K, Kim Y
- KMID: 2414133
- Lab Med Online.
- 2018 Jul;8(3):114-118.
- doi: 10.3343/lmo.2018.8.3.114
Hereditary spherocytosis (HS) is caused by mutations in the SPTA1, SPTB, ANK1, SLC4A1, and EPB42 genes, all of which encode erythrocyte membrane proteins. Mutations in SLC4A1, which encodes band 3... -
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