Results 121 to 130 of about 32,784 (274)

Genocopy of EVI1‐AML with paraneoplastic diabetes insipidus: PRDM16 overexpression by t(1;2)(p36;p21) and enhancer hijacking

British Journal of Haematology, EarlyView.
Summary Diabetes insipidus (DI) in patients with acute myeloid leukaemia (AML) and chromosome 3q alterations (EVI1/PRDM3/MECOM overexpression) constitutes a poorly understood paraneoplasia. A 44‐year‐old patient presented with clinical and morphological features of this syndrome but, surprisingly, disclosed the rare translocation t(1;2)(p36;p21), with ...
Julian List, Etienne Sollier, Fiona Brown‐Burke, Katherine Kelly, Dietmar Pfeifer, Valeria Shlyakhto, Kristina Maas‐Bauer, Milena Pantic, Christoph Plass, Michael Lübbert   +9 more
wiley   +1 more source

The nuclear translocation assay for intracellular protein-protein interactions and its application to the Bcr coiled-coil domain

BioTechniques, 2010
Protein interactions are critical for normal biological processes and molecular pathogenesis. While it is important to study these interactions, there are limited assays that are performed inside the cell, in the native cell environment, where the ...
Andrew S. Dixon, Carol S. Lim
doaj   +1 more source

Assessment of measurable residual disease in ovarian tissue collected for fertility preservation in patients in remission from acute myeloid leukaemia: A pilot study

British Journal of Haematology, EarlyView.
Summary Allogeneic haematopoietic stem cell transplantation (ASCT) is a curative treatment for acute myeloid leukaemia (AML) but carries a high risk of gonadotoxicity. Ovarian tissue cryopreservation (OTC) offers a fertility preservation option, yet its safety in AML remains uncertain due to the risk of leukaemic cell reintroduction. The FERTILAM pilot
Augustin Boudry, Florian Chevillon, Alice Marceau‐Renaut, Thorsten Braun, Thomas Boyer, Nathalie Helevaut, Elise Fournier, Sandrine Geffroy, Nicolas Boissel, Emmanuelle Clappier, Claude Preudhomme, Nicolas Duployez, Catherine Poirot, Laurène Fenwarth   +13 more
wiley   +1 more source

Concurrent BCR‐ABL1 and core binding factor beta rearrangement in de novo acute myeloid leukemia: A case report and review of literature

eJHaem
A distinct subset of acute myeloid leukemia (AML) is characterized by the presence of the Philadelphia chromosome (Ph+), due to reciprocal translocation t(9;22)(q34;q11.2).
Brittany Salter, Sarah Ge, Amy Tam, Suzanne Demczuk, Darci Butcher, Elizabeth McCready, Dina Khalaf   +6 more
doaj   +1 more source

Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report

Revista Brasileira de Hematologia e Hemoterapia, 2013
Chromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid ...
Daniela Ribeiro Ney Garcia, Alejandro Mauricio Arancibia, Raul C. Ribeiro, Marcelo Gerardin Poirot Land, Maria Luiza Macedo Silva   +4 more
doaj   +1 more source

Does the breakpoint within the major breakpoint cluster region (M-bcr) influence the duration of the chronic phase in chronic myeloid leukemia? An analytical comparison of current literature [see comments] [PDF]

, 1991
Ken Mills, Peter Benn, GD Birnie
openalex   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

Papel da P190 BCR-ABL como parâmetro de recaída na leucemia mielóide crônica P190 BCR-ABL role in myeloid chronic leukemia relapse

Revista Brasileira de Hematologia e Hemoterapia, 2008
A leucemia mielóide crônica (LMC) é uma desordem hematológica mieloproloferativa clonal causada por uma mutação em uma célula-tronco pluripotente, resultando na proliferação e acúmulo de células mielóides e seus progenitores.
Gabriela V. Andrade
doaj   +1 more source

Homoharringtonine Promotes FTO Degradation to Suppress LILRB4‐Mediated Immune Evasion in Acute Monocytic Leukaemia

Cell Proliferation, EarlyView.
Homoharringtonine (HHT) suppresses immune evasion in acute monocytic leukaemia (AML‐M5) by attenuating the FTO/m6A/LILRB4 axis, thereby enhancing CD8+ T cell cytotoxicity. ABSTRACT Acute monocytic leukaemia, a subtype of acute myeloid leukaemia (AML), is a highly aggressive malignancy characterised by a poor prognosis, primarily due to the ability of ...
Fangfang Huang, Xiang Luo, Mengyu Zhang, Le Jin, Wenxin Sun, Peihan Chen, Xiuli Hong, Chenyu Xu, Meizhi Jiang, Die Hu, Bin Zhang, Shengwei Hu, Chuanjiang Yang, Rui Gao, Jinzhang Zeng, Quanyi Lu, Qiang Luo, Jun Wu, Siming Chen   +18 more
wiley   +1 more source