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Akademický článek

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor

Autor: Fiona Poyer, Raúl Jimenez Heredia, Wolfgang Novak, Petra Zeitlhofer, Karin Nebral, Michael N. Dworzak, Oskar A. Haas, Kaan Boztug, Leo Kager

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

We report the case of a male Pakistani patient with a pathogenic homozygous loss of function variant in the non-homologous end-joining factor 1 (NHEJ1) gene. The growth retarded and microcephalic boy with clinodactyly of both hands and hyperpigmentat

Externí odkaz: https://doaj.org/article/31b1b085a0d24e99b3dd5720334df4c3

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Akademický článek

Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes

Autor: Masayuki Shiseki, Mayuko Ishii, Mari Miyazaki, Satoko Osanai, Yan‐Hua Wang, Kentaro Yoshinaga, Naoki Mori, Junji Tanaka

Publikováno v: Cancer Medicine, Vol 9, Iss 2, Pp 460-468 (2020)

Abstract The PLCG1 gene, which encodes the phospholipase C γ1 isoform, is located within the commonly deleted region of the long arm of chromosome 20 (del(20q)) observed in myelodysplastic syndromes (MDS). Phospholipase C is involved in diverse phys

Externí odkaz: https://doaj.org/article/e7059046425c4fd9a85dbfb08bc2d4d5

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Dissertation/ Thesis

Characterizing the role of PLAGL2 in human leukemia initiation

Autor: Xu, Joshua

The identification and understanding of early drivers in malignancy is crucial to revert preleukemic events and prevent leukemic relapse. Del(20q) is one of the most common primary cytogenetic abnormalities found in preleukemic malignancies from myel

Externí odkaz: http://hdl.handle.net/11375/29729

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Akademický článek

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Cytogénétique des syndromes myélodysplasiques avec elliptocytose : étude bibliographique et revue de la littérature

Autor: Legland, Anne-Margaux

Publikováno v: Sciences du Vivant [q-bio]. 2021

L’elliptocytose acquise est une manifestation rare des syndromes myélodysplasiques (SMD) et son mécanisme n’est à ce jour pas expliqué. Certains auteurs ont suggéré qu’elle soit liée à une délétion (20q) et à des anomalies de la prot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2ea39fb8ba59ef34dc5485f356d1ba23
https://dumas.ccsd.cnrs.fr/dumas-03193720/document

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Asian Population Is More Prone to Develop High-Risk Myelodysplastic Syndrome, Concordantly with Their Propensity to Exhibit High-Risk Cytogenetic Aberrations

Autor: Yan Jiang, Frédéric Morel, Marie-Bérengère Troadec, Jian-Min Chen, Benoit Soubise, Marie-Anne Couturier, Nathalie Douet-Guilbert, Su-Jun Gao, Audrey Basinko, Jean-Richard Eveillard

Publikováno v: Cancers
Volume 13
Issue 3
Cancers, Vol 13, Iss 481, p 481 (2021)

Simple Summary The world population is genetically and environmentally diverse. In particular, genetic differences related to an ethnic factor may underlie differences in cancer phenotypic expression. Therefore, we compared the epidemiology, and the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf0d6a16d4e04ec6c5d128cd8cf8400
http://europepmc.org/articles/PMC7865620

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Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes

Autor: Naoki Mori, Yan-Hua Wang, Masayuki Shiseki, Junji Tanaka, Kentaro Yoshinaga, Satoko Osanai, Mayuko Ishii, Mari Miyazaki

Publikováno v: Cancer Medicine
Cancer Medicine, Vol 9, Iss 2, Pp 460-468 (2020)

The PLCG1 gene, which encodes the phospholipase C γ1 isoform, is located within the commonly deleted region of the long arm of chromosome 20 (del(20q)) observed in myelodysplastic syndromes (MDS). Phospholipase C is involved in diverse physiological

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebfb9300c480c7790de2aa9f0228376c
https://pubmed.ncbi.nlm.nih.gov/31755660

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Parental Origin of the Deletion Del(20q) in Shwachman-Diamond Patients and Loss of the Paternally Derived Allele of the Imprinted L3MBTL1 Gene

Autor: Nacci, Lucia, Valli, Roberto, Maria Pinto, Rita, Zecca, Marco, Cipolli, Marco, Morini, Jacopo, Cesaro, Simone, Boveri, Emanuela, Rosti, Vittorio, Corti, Paola, Ambroni, Maura, Pasquali, Francesco, Danesino, Cesare, Maserati, Emanuela, Minelli, Antonella

Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c29c7e135c74bf34b17b2645c61218ac
http://hdl.handle.net/11383/2051624

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Akademický článek

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Del(20q) in patients with chronic lymphocytic leukemia: a therapy-related abnormality involving lymphoid or myeloid cells

Autor: Michael J. Keating, Cheng Cameron Yin, L. Jeffrey Medeiros, Lynne V. Abruzzo, Guilin Tang, Gary Lu, Xiaoli Feng

Publikováno v: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

Deletion 20q (Del(20q)), a common cytogenetic abnormality in myeloid neoplasms, is rare in chronic lymphocytic leukemia. We report 64 patients with chronic lymphocytic leukemia and del(20q), as the sole abnormality in 40, a stemline abnormality in 21

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7a0a57fa74e78542ee465e45ee22587
https://doi.org/10.1038/modpathol.2015.58

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