Cargando…

The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant

Detalles Bibliográficos
Autores principales:	Yoon, Jihoon G., Lee, Seungbok, Kim, Sheehyun, Kim, Man Jin, Chang, Yoon Hwan, Park, Jin Kyun, Shin, Dong-Yeop, Moon, Jangsup
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society for Laboratory Medicine 2023
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618899/ https://www.ncbi.nlm.nih.gov/pubmed/36281520 http://dx.doi.org/10.3343/alm.2023.43.2.217

Ejemplares similares

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome
por: Poulter, James A., et al.
Publicado: (2021)

Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases
por: Cho, Jaeso, et al.
Publicado: (2023)

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report
por: Wilke, Matheus V. M. B., et al.
Publicado: (2022)

First Cases of Spinocerebellar Ataxia 42 in Two Korean Families
por: Son, Hyoshin, et al.
Publicado: (2023)

Recurrent Mutations of the Active Adenylation Domain of UBA1 in Atypical Form of VEXAS Syndrome
por: Faurel, Alyx, et al.
Publicado: (2023)

Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS
por: Wu, Zhijie, et al.
Publicado: (2023)

Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies
por: Sakuma, Maki, et al.
Publicado: (2023)

Dominance of an UBA1 mutant clone over a CALR mutant clone: from essential thrombocytemia to VEXAS
por: Hage-Sleiman, Mehdi, et al.
Publicado: (2021)

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism
por: Mascaro, Jose Manuel, et al.
Publicado: (2023)

P778: A CARTOGRAPHY OF UBA1 GENE TESTING, EPIDEMIOLOGY AND CLINICAL-GENOMIC CHARACTERISTICS: THE VEXAS ITALIAN EXPERIENCE
por: Gurnari, Carmelo, et al.
Publicado: (2023)

UBA1 Screening in Sweet Syndrome With Hematological Neoplasms Reveals a Novel Association Between VEXAS and Chronic Myelomonocytic Leukemia
por: Gurnari, Carmelo, et al.
Publicado: (2022)

VEXAS syndrome
por: Grayson, Peter C., et al.
Publicado: (2021)

VEXAS-Syndrom
por: Zeeck, M., et al.
Publicado: (2022)

Thrombosis in VEXAS syndrome
por: Oo, Thet Mon, et al.
Publicado: (2021)

VEXAS Syndrome—Review
por: Zhang, Yue, et al.
Publicado: (2023)

Azacytidine Treatment for VEXAS Syndrome
por: Raaijmakers, Marc H. G. P., et al.
Publicado: (2021)

VEXAS syndrome with cutaneous nodules
por: Argobi, Yahya
Publicado: (2021)

S161: UBA1 NON-M41 VARIANTS ARE MORE AGGRESSIVE THAN UBA1 M41 VARIANTS IN THEIR HEMATOLOGICAL MANIFESTATIONS.
por: Sakuma, Maki, et al.
Publicado: (2023)

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins
por: Bang, Benedicte, et al.
Publicado: (2022)

VEXAS syndrome: a diagnostic puzzle
por: Ruffer, Nikolas, et al.
Publicado: (2023)

A Common Variant of NGEF Is Associated with Abdominal Visceral Fat in Korean Men
por: Kim, Hyun-Jin, et al.
Publicado: (2015)

Reference-unbiased copy number variant analysis using CGH microarrays
por: Ju, Young Seok, et al.
Publicado: (2010)

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome—clinical presentation of a newly described somatic, autoinflammatory syndrome
por: Alhomida, Faris, et al.
Publicado: (2021)

Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome
por: Stubbins, Ryan J., et al.
Publicado: (2022)

Overexpression of UBA5 in Cells Mimics the Phenotype of Cells Lacking UBA5
por: Kumari, Sujata, et al.
Publicado: (2022)

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder
por: Huang, Huijun, et al.
Publicado: (2021)

VEXAS Syndrome: A Novelty in MDS Landscape
por: Templé, Marie, et al.
Publicado: (2022)

VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia
por: Austestad, Janne, et al.
Publicado: (2023)

Intrapatient competition of VEXAS syndrome and CML clones
por: Djerbi, Nadia, et al.
Publicado: (2023)

Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea
por: Yoon, Je Moon, et al.
Publicado: (2016)

Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review
por: Kouranloo, Koushan, et al.
Publicado: (2023)

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism
por: Lee, Youngeun, et al.
Publicado: (2022)

Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA
por: Yoon, Jung-Ki, et al.
Publicado: (2023)

Vexas: A new syndrome not always associated with hemopathy
por: Thomas, Benoît, et al.
Publicado: (2021)

Vasculitis associated with VEXAS syndrome: A literature review
por: Watanabe, Ryu, et al.
Publicado: (2022)

Quantitative Assessment of Vacuolization of Myeloid Precursors in VEXAS Syndrome
por: Rabut, Audrey, et al.
Publicado: (2023)

UBA80 and UBA52 fine-tune RNF168-dependent histone ubiquitination and DNA repair
por: Lee, Seong-Ok, et al.
Publicado: (2023)

Involvement in Fertilization and Expression of Gamete Ubiquitin-Activating Enzymes UBA1 and UBA6 in the Ascidian Halocynthia roretzi
por: Sawada, Hitoshi, et al.
Publicado: (2023)

Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome
por: Lacombe, Valentin, et al.
Publicado: (2022)

Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome
por: Vitale, Antonio, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_iv2clj3t507bkg3pn6uc8fd4e9