Cargando…

Severe dysplasminogenemia due to homozygous PLG Ala620Thr variant in a Korean woman without a history of venous thromboembolism: A case report and literature review

RATIONALE: Plasminogen plays an important role in fibrinolysis and is encoded by the PLG gene. The missense variant PLG Ala620Thr is the major cause of dysplasminogenemia in East Asian countries, including Korea. Although dysplasminogenemia was first reported in a Japanese patient with recurrent ven...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Beomki, Kim, Suekyeung, Lee, Jae Joon, Heo, Seon-Hee, Chung, Suryeun, Jang, Shin Yi, Kim, Sun-Hee, Kim, Duk-Kyung, Kim, Hee-Jin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896429/ https://www.ncbi.nlm.nih.gov/pubmed/35244080 http://dx.doi.org/10.1097/MD.0000000000029013

Ejemplares similares

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia
por: Ahn, Hyunji, et al.
Publicado: (2020)

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype
por: Choi, Jin-Ho, et al.
Publicado: (2017)

Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs(∗)2) in the F5 gene: A case report
por: Park, Chang-Hun, et al.
Publicado: (2020)

A Case of Acute Pulmonary Embolism Associated with Dysplasminogenemia
por: Yoo, Hongseok, et al.
Publicado: (2013)

Clinical and genetic features of four patients with Pearson syndrome: An observational study
por: Son, Ji Soo, et al.
Publicado: (2022)

Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?
por: Kim, So Young, et al.
Publicado: (2016)

Association between CD24 Ala/Val polymorphism and multiple sclerosis risk: A meta analysis
por: Yang, Wan, et al.
Publicado: (2020)

RAS Mutations in AUS/FLUS Cytology: Does it Have an Additional Role in BRAF(V600E) Mutation-Negative Nodules?
por: Yoon, Jung Hyun, et al.
Publicado: (2015)

Genome-wide association study identifies BTNL2 associated with atopic asthma in children
por: Kim, Soo Yeon, et al.
Publicado: (2021)

PEAR1 gene polymorphism in a Chinese pedigree with pulmonary thromboembolism
por: Fu, Yingyun, et al.
Publicado: (2016)

Association of lncRNA SOX2OT rs9839776 polymorphism with gastric cancer risk in Korean: Case-control study
por: Hong, Jang Hee, et al.
Publicado: (2023)

Genome-wide identification of expression quantitative trait loci for human telomerase
por: Kim, Hanseol, et al.
Publicado: (2016)

A genetic variant in GLP1R is associated with response to DPP-4 inhibitors in patients with type 2 diabetes
por: Han, Eugene, et al.
Publicado: (2016)

Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications
por: Chang, Mun Young, et al.
Publicado: (2015)

Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report
por: Jeong, Changhoon, et al.
Publicado: (2021)

Profile of Differential Promoter Activity by Nucleotide Substitution at GWAS Signals For Multiple Sclerosis
por: Ryu, Jihye, et al.
Publicado: (2014)

Association between Unc-51-like autophagy activating kinase 2 gene polymorphisms and schizophrenia in the Korean population
por: Kang, Won Sub, et al.
Publicado: (2022)

X-linked Charcot–Marie–Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report
por: Kim, Jin Kyu, et al.
Publicado: (2017)

Kallmann syndrome with a Tyr113His PROKR2 mutation
por: Ha, Jeong-Ha, et al.
Publicado: (2017)

Identification of new genes of pleomorphic adenoma
por: Choi, Jeong-Seok, et al.
Publicado: (2019)

Association of MRI-defined lumbar paraspinal muscle mass and slip percentage in degenerative and isthmic spondylolisthesis: A multicenter, retrospective, observational study
por: Park, Jae-Hyun, et al.
Publicado: (2019)

Interaction between ALDH2 rs671 and life habits affects the risk of hypertension in Koreans: A STROBE observational study
por: Kim, Sung-Soo, et al.
Publicado: (2021)

Long interspersed nuclear element-1 hypomethylation is associated with poor outcomes via the activation of ST18 in human hepatocellular carcinoma
por: Lee, Yu Rim, et al.
Publicado: (2021)

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
por: Neeve, Vivienne C. M., et al.
Publicado: (2012)

Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr
por: Smith, Justin D., et al.
Publicado: (2017)

Analysis of cerebral infarction caused by dysplasminogenemia in three pedigrees
por: Chen, Xuanyu, et al.
Publicado: (2023)

Coexistence of t(2;14;11)(p16.1;q32;q23) and t(14;19)(q32;q13.3) chromosome translocations in a patient with chronic lymphocytic leukemia: A case report
por: Liu, Guangming, et al.
Publicado: (2017)

PRISMA-combined Myeloperoxidase -463G/A gene polymorphism and coronary artery disease: A meta-analysis of 4744 subjects
por: Li, Yan-Yan, et al.
Publicado: (2017)

Strong cis-acting expression quantitative trait loci for the genes encoding SNHG5 and PEX6
por: Lee, Jihyeon, et al.
Publicado: (2016)

Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea
por: Lee, Young Chun, et al.
Publicado: (2022)

Expression quantitative trait loci for PI3K/AKT pathway
por: Ryu, Dongchan, et al.
Publicado: (2017)

Genome-wide association study for genetic variants related with maximal voluntary ventilation reveals two novel genomic signals associated with lung function
por: Suh, Yujin, et al.
Publicado: (2017)

Value of Chromosome 9p21 Polymorphism for Prediction of Cardiovascular Mortality in Han Chinese Without Coronary Lesions: An Observational Study
por: Lee, I-Te, et al.
Publicado: (2015)

Clinicopathological characteristics of TERT promoter mutation and telomere length in hepatocellular carcinoma
por: Lee, Hye Won, et al.
Publicado: (2017)

Effects of Phenotypic and Genotypic Factors on the Lipid Responses to Niacin in Chinese Patients With Dyslipidemia
por: Hu, Miao, et al.
Publicado: (2015)

Genome-wide linkage analysis and regional fine mapping identified variants in the RYR3 gene as a novel quantitative trait locus for circulating adiponectin in Chinese population
por: Chang, Yi-Cheng, et al.
Publicado: (2016)

Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report
por: Lee, Sook Joung, et al.
Publicado: (2020)

Association between DIO2 Thr92Ala polymorphism and hypertension in patients with hypothyroidism: Korean Genome and Epidemiology Study
por: Kang, Young Mi, et al.
Publicado: (2023)

Fibrinogen-Aα THR312ALA Polymorphism is Associated to Chronic Thromboembolic Pulmonary Hypertension in Turkey
por: Çörtük, Mustafa, et al.
Publicado: (2023)

Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
por: Keppel, Stormy C., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_msq3je116q3tavl9il3br6avla