LIVIVO - Search results -

Search results

Result 1 - 10 of total 43

Search options

Article ; Online: Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity.

Guilz, Nicole C / Ahn, Yong-Oon / Seo, Seungmae / Mace, Emily M

2023 Volume 43, Issue 5, Page(s) 847–861

MeSH term(s)	Humans ; DNA Helicases/genetics ; Immune System Diseases/enzymology ; Immune System Diseases/genetics
Chemical Substances	DNA Helicases (EC 3.6.4.-)
Language	English
Publishing date	2023-02-21
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-023-01437-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1640: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article: iPSC-based modeling of helicase deficiency reveals impaired cell proliferation and increased apoptosis after NK cell lineage commitment.

Seo, Seungmae / Patil, Sagar L / Ahn, Yong-Oon / Armetta, Jacqueline / Hegewisch-Solloa, Everardo / Castillo, Micah / Guilz, Nicole C / Patel, Achchhe / Corneo, Barbara / Borowiak, Malgorzata / Gunaratne, Preethi / Mace, Emily M

bioRxiv : the preprint server for biology

2023

Abstract: Cell proliferation is a ubiquitous process required for organismal development and homeostasis. However, individuals with partial loss-of-function variants in DNA replicative helicase components often present with immunodeficiency due to specific loss of ...

Abstract	Cell proliferation is a ubiquitous process required for organismal development and homeostasis. However, individuals with partial loss-of-function variants in DNA replicative helicase components often present with immunodeficiency due to specific loss of natural killer (NK) cells. Such lineage-specific disease phenotypes raise questions on how the proliferation is regulated in cell type-specific manner. We aimed to understand NK cell-specific proliferative dynamics and vulnerability to impaired helicase function using iPSCs from individuals with NK cell deficiency (NKD) due to hereditary compound heterozygous
Language	English
Publishing date	2023-09-25
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.09.25.559149
Database	MEDical Literature Analysis and Retrieval System OnLINE

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾

Article ; Online: Author Correction: Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.

Jeong, Dajeong / Kim, Sung-Min / Min, Byung Joo / Kim, Ju Han / Ju, Young Seok / Ahn, Yong-Oon / Yun, Jiwon / Lee, Young Eun / Kwon, Seok Ryun / Park, Jae Hyeon / Yoon, Jong Hyun / Lee, Dong Soon

Scientific reports

2022 Volume 12, Issue 1, Page(s) 21516

Language	English
Publishing date	2022-12-13
Publishing country	England
Document type	Published Erratum
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-26128-8
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Minimal residual disease negativity by next-generation flow in non-CR myeloma patients.

Kim, Sung-Min / Yang, Naery Euphrasia / Jeong, Dajeong / Yun, Jiwon / Ryu, Sohee / Yoon, Sung-Soo / Ahn, Yong-Oon / Lee, Dong Soon

EJHaem

2020 Volume 1, Issue 2, Page(s) 563–566

Abstract: Next-generation flow (NGF) has detected minimal residual disease (MRD) in numerous myeloma patients who achieve a complete response (CR). However, when MRD is not detected via NGF in non-CR patients, its clinical meaning is uncertain. Here, we ... ...

Abstract	Next-generation flow (NGF) has detected minimal residual disease (MRD) in numerous myeloma patients who achieve a complete response (CR). However, when MRD is not detected via NGF in non-CR patients, its clinical meaning is uncertain. Here, we investigated the correlation between MRD findings on NGF and the response criteria, paying special attention to patients with discrepant results. We performed NGS analysis of IgH rearrangements on bone marrow samples from the non-CR patients with negative MRD on NGF. NGS detected residual abnormal clones in those patients, suggesting that NGF and NGS should be used in a complementary manner for MRD investigation.
Language	English
Publishing date	2020-09-22
Publishing country	United States
Document type	Journal Article
ISSN	2688-6146
ISSN (online)	2688-6146
DOI	10.1002/jha2.103
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Natural Killer Cell Expansion and Cytotoxicity Differ Depending on the Culture Medium Used.

Koh, Seung Kwon / Park, Jeehun / Kim, Seong-Eun / Lim, Yuree / Phan, Minh-Trang Thi / Kim, Jinho / Hwang, Ilwoong / Ahn, Yong-Oon / Shin, Sue / Doh, Junsang / Cho, Duck

Annals of laboratory medicine

2022 Volume 42, Issue 6, Page(s) 638–649

Abstract: Background: Adoptive cell therapy using umbilical cord blood (UCB)-derived allogeneic natural killer (NK) cells has shown encouraging results. However, because of the insufficient availability of NK cells and limited UCB volume, more effective culture ... ...

Abstract	Background: Adoptive cell therapy using umbilical cord blood (UCB)-derived allogeneic natural killer (NK) cells has shown encouraging results. However, because of the insufficient availability of NK cells and limited UCB volume, more effective culture methods are required. NK cell expansion and functionality are largely affected by the culture medium. While human serum is a major affecting component in culture media, the way it regulates NK cell functionality remains elusive. We elucidated the effects of different culture media and human serum supplementation on UCB NK cell expansion and functionality. Methods: UCB NK cells were cultured under stimulation with K562-OX40L-mbIL-18/21 feeder cells and IL-2 and IL-15 in serum-containing and serum-free culture media. The effects of the culture media and human serum supplementation on NK cell expansion and cytotoxicity were evaluated by analyzing the expansion rate, activating and inhibitory receptor levels, and the cytotoxicity of the UCB NK cells. Results: The optimal medium for NK cell expansion was Dulbecco's modified Eagle's medium/Ham's F12 with supplements and that for cytotoxicity was AIM V supplemented with Immune Cell Serum Replacement. Shifting media is an advantageous strategy for obtaining several highly functional UCB NK cells. Live cell imaging and killing time measurement revealed that human serum enhanced NK cell proliferation but delayed target recognition, resulting in reduced cytotoxicity. Conclusions: Culture medium supplementation with human serum strongly affects UCB NK cell expansion and functionality. Thus, culture media should be carefully selected to ensure both NK cell quantity and quality for adoptive cell therapy.
MeSH term(s)	Cell Proliferation ; Culture Media/pharmacology ; Humans ; Killer Cells, Natural
Chemical Substances	Culture Media
Language	English
Publishing date	2022-06-25
Publishing country	Korea (South)
Document type	Journal Article
ZDB-ID	2677441-0
ISSN	2234-3814 ; 2234-3814
ISSN (online)	2234-3814
ISSN	2234-3814
DOI	10.3343/alm.2022.42.6.638
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.

Jeong, Dajeong / Kim, Sung-Min / Min, Byung Joo / Kim, Ju Han / Ju, Young Seok / Ahn, Yong-Oon / Yun, Jiwon / Lee, Young Eun / Kwon, Seok Ryun / Park, Jae Hyeon / Yoon, Jong Hyun / Lee, Dong Soon

Scientific reports

2022 Volume 12, Issue 1, Page(s) 7515

Abstract: Congenital neutropenia (CN) is a hematological disease heterogeneous in its genetic, phenotypic and histologic aspects. We aimed to identify the genetic etiology of Korean CN patients in the context of bone marrow (BM) histology and clinical phenotype. ... ...

Abstract	Congenital neutropenia (CN) is a hematological disease heterogeneous in its genetic, phenotypic and histologic aspects. We aimed to identify the genetic etiology of Korean CN patients in the context of bone marrow (BM) histology and clinical phenotype. Whole-exome sequencing (WES) or targeted sequencing was performed on the BM or peripheral blood specimens of 16 patients diagnosed with CN based on BM exam from 2009 to 2018. Absolute count of myeloperoxidase (MPO)-positive cells was calculated using ImageJ software. Semi-quantitation of MPO-positive cells in BM sections was performed by MPO grading (grades 0-3). Comprehensive retrospective review on real-world data of 345 pediatric patients with neutropenia including 16 patients in this study during the same period was performed. Seven disease-causing variants were identified in ELANE, G6PC3 and CXCR4 in 7 patients. A novel homozygous G6PC3 variant (K72fs) of which the mechanism was copy-neutral loss of heterozygosity was detected in two brothers. A low myeloid-to-erythroid ratio (0.5-1.5) was consistently observed in patients with ELANE mutations, while MPO-positive cells (40%-50%) with MPO grade 1 or 2 were detected in myelokathexis caused by G6PC3 and CXCR4 mutations. Meanwhile, disease-causing variants were detected in ELANE, TAZ and SLC37A4 in 5 patients by retrospective review of medical records. Our results suggest that following the immunological study and BM exam, WES or an expanded next generation sequencing panel that covers genes related to immunodeficiency and other inherited bone marrow failures as well as CN is recommended for neutropenia patient diagnosis.
MeSH term(s)	Antiporters/genetics ; Child ; Congenital Bone Marrow Failure Syndromes ; Humans ; Male ; Monosaccharide Transport Proteins/genetics ; Mutation ; Neutropenia/congenital ; Neutropenia/pathology ; Phenotype ; Republic of Korea ; Whole Exome Sequencing
Chemical Substances	Antiporters ; Monosaccharide Transport Proteins ; SLC37A4 protein, human
Language	English
Publishing date	2022-05-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-11492-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: CD21-independent Epstein-Barr virus entry into NK cells.

Lee, Jeong Hoo / Choi, Jahyang / Ahn, Yong-Oon / Kim, Tae Min / Heo, Dae Seog

Cellular immunology

2018 Volume 327, Page(s) 21–25

Abstract: Extranodal natural killer (NK)/T-cell lymphoma is an aggressive malignant disease that is associated with Epstein-Barr viral (EBV) infection. To date, the mechanism of viral entry into NK cells remains uncertain. Here, we investigated this mechanism ... ...

Abstract	Extranodal natural killer (NK)/T-cell lymphoma is an aggressive malignant disease that is associated with Epstein-Barr viral (EBV) infection. To date, the mechanism of viral entry into NK cells remains uncertain. Here, we investigated this mechanism using human NK cells in vitro. CD21 mRNA expression, an EBV-entry receptor, was transiently detected in NK cells after exosome treatment, and levels decreased after further culture. CD21 protein expression was also transiently transferred to NK cells after co-culture with an EBV-positive Burkitt lymphoma cell line (Raji) via trogocytosis. However, EBV did not infect NK cells through CD21-mediated trogocytosis. Unexpectedly, when NK cell leukemia cells, as well as primary NK cells, were treated with viral supernatant, EBV genes, but not RNA, were detected in the NK cells, at latency stage 0. Therefore, these results suggest that EBV-NK cell infection results from the direct transfer of viral episomes, independent of EBV-positive B cells.
MeSH term(s)	Adult ; B-Lymphocytes ; Cell Line, Tumor ; Epstein-Barr Virus Infections/metabolism ; Epstein-Barr Virus Nuclear Antigens ; Exosomes ; Female ; Healthy Volunteers ; Herpesvirus 4, Human/pathogenicity ; Herpesvirus 4, Human/physiology ; Humans ; Killer Cells, Natural/physiology ; Killer Cells, Natural/virology ; Male ; Primary Cell Culture ; Receptors, Complement 3d/metabolism ; Receptors, Complement 3d/physiology
Chemical Substances	Epstein-Barr Virus Nuclear Antigens ; Receptors, Complement 3d
Language	English
Publishing date	2018-01-17
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80094-6
ISSN	1090-2163 ; 0008-8749
ISSN (online)	1090-2163
ISSN	0008-8749
DOI	10.1016/j.cellimm.2018.01.011
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 417: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing

Dajeong Jeong / Sung-Min Kim / Byung Joo Min / Ju Han Kim / Young Seok Ju / Yong-Oon Ahn / Jiwon Yun / Young Eun Lee / Seok Ryun Kwon / Jae Hyeon Park / Jong Hyun Yoon / Dong Soon Lee

Scientific Reports, Vol 12, Iss 1, Pp 1-

genetic, phenotypic and histologic correlations

2022 Volume 13

Abstract: Abstract Congenital neutropenia (CN) is a hematological disease heterogeneous in its genetic, phenotypic and histologic aspects. We aimed to identify the genetic etiology of Korean CN patients in the context of bone marrow (BM) histology and clinical ... ...

Abstract	Abstract Congenital neutropenia (CN) is a hematological disease heterogeneous in its genetic, phenotypic and histologic aspects. We aimed to identify the genetic etiology of Korean CN patients in the context of bone marrow (BM) histology and clinical phenotype. Whole-exome sequencing (WES) or targeted sequencing was performed on the BM or peripheral blood specimens of 16 patients diagnosed with CN based on BM exam from 2009 to 2018. Absolute count of myeloperoxidase (MPO)-positive cells was calculated using ImageJ software. Semi-quantitation of MPO-positive cells in BM sections was performed by MPO grading (grades 0–3). Comprehensive retrospective review on real-world data of 345 pediatric patients with neutropenia including 16 patients in this study during the same period was performed. Seven disease-causing variants were identified in ELANE, G6PC3 and CXCR4 in 7 patients. A novel homozygous G6PC3 variant (K72fs) of which the mechanism was copy-neutral loss of heterozygosity was detected in two brothers. A low myeloid-to-erythroid ratio (0.5–1.5) was consistently observed in patients with ELANE mutations, while MPO-positive cells (40%–50%) with MPO grade 1 or 2 were detected in myelokathexis caused by G6PC3 and CXCR4 mutations. Meanwhile, disease-causing variants were detected in ELANE, TAZ and SLC37A4 in 5 patients by retrospective review of medical records. Our results suggest that following the immunological study and BM exam, WES or an expanded next generation sequencing panel that covers genes related to immunodeficiency and other inherited bone marrow failures as well as CN is recommended for neutropenia patient diagnosis.
Keywords	Medicine ; R ; Science ; Q
Subject code	610 ; 616
Language	English
Publishing date	2022-05-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Prognostic value of integrated cytogenetic, somatic variation, and copy number variation analyses in Korean patients with newly diagnosed multiple myeloma.

Nuri Lee / Sung-Min Kim / Youngeun Lee / Dajeong Jeong / Jiwon Yun / Sohee Ryu / Sung-Soo Yoon / Yong-Oon Ahn / Sang Mee Hwang / Dong Soon Lee

PLoS ONE, Vol 16, Iss 2, p e

2021 Volume 0246322

Abstract: Background To investigate the prognostic value of gene variants and copy number variations (CNVs) in patients with newly diagnosed multiple myeloma (NDMM), an integrative genomic analysis was performed. Methods Sixty-seven patients with NDMM exhibiting ... ...

Abstract	Background To investigate the prognostic value of gene variants and copy number variations (CNVs) in patients with newly diagnosed multiple myeloma (NDMM), an integrative genomic analysis was performed. Methods Sixty-seven patients with NDMM exhibiting more than 60% plasma cells in the bone marrow aspirate were enrolled in the study. Whole-exome sequencing was conducted on bone marrow nucleated cells. Mutation and CNV analyses were performed using the CNVkit and Nexus Copy Number software. In addition, karyotype and fluorescent in situ hybridization were utilized for the integrated analysis. Results Eighty-three driver gene mutations were detected in 63 patients with NDMM. The median number of mutations per patient was 2.0 (95% confidence interval [CI] = 2.0-3.0, range = 0-8). MAML2 and BHLHE41 mutations were associated with decreased survival. CNVs were detected in 56 patients (72.7%; 56/67). The median number of CNVs per patient was 6.0 (95% CI = 5.7-7.0; range = 0-16). Among the CNVs, 1q gain, 6p gain, 6q loss, 8p loss, and 13q loss were associated with decreased survival. Additionally, 1q gain and 6p gain were independent adverse prognostic factors. Increased numbers of CNVs and driver gene mutations were associated with poor clinical outcomes. Cluster analysis revealed that patients with the highest number of driver mutations along with 1q gain, 6p gain, and 13q loss exhibited the poorest prognosis. Conclusions In addition to the known prognostic factors, the integrated analysis of genetic variations and CNVs could contribute to prognostic stratification of patients with NDMM.
Keywords	Medicine ; R ; Science ; Q
Subject code	616 ; 610
Language	English
Publishing date	2021-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Reclassification of subtypes in Philadelphia chromosome-negative myeloproliferative neoplasm by 2016 WHO diagnostic criteria: focus on the cases classified as myeloproliferative neoplasm, unclassifiable by the 2008 version.

Yun, Jiwon / Kim, Jung-Ah / Park, Junseo / Im, Kyongok / Lee, Young Eun / Jeong, Dajeong / Ryu, Sohee / Lim, Kyu Min / Kim, Sung-Min / Ahn, Yong-Oon / Lee, Dong Soon

Leukemia & lymphoma

2020 Volume 61, Issue 14, Page(s) 3498–3502

MeSH term(s)	Humans ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics ; Philadelphia Chromosome ; Polycythemia Vera ; World Health Organization
Language	English
Publishing date	2020-09-02
Publishing country	United States
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	1042374-6
ISSN	1029-2403 ; 1042-8194
ISSN (online)	1029-2403
ISSN	1042-8194
DOI	10.1080/10428194.2020.1808212
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2997: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito