Results 41 to 50 of about 453,665 (301)

PICALM::MLLT10 translocated leukemia

open access: yesFEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen   +7 more
wiley   +1 more source

Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region

open access: yesClinical Case Reports, 2017
Key Clinical Message Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations.
Saet Byeol Kim   +5 more
doaj   +1 more source

Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia. [PDF]

open access: yes, 2017
Acquired elliptocytosis is a known but rarely described abnormality in the myelodysplastic syndromes (MDS). Here we report the case of an elderly male who was admitted to the hospital with chest pain, dyspnea, and fatigue and was found to be anemic with ...
Dwyre, Denis M   +2 more
core   +2 more sources

Plasma extrachromosomal circular DNA as a biomarker in EGFR‐targeted therapy of non‐small cell lung cancer

open access: yesMolecular Oncology, EarlyView.
Detection of extrachromosomal circular DNA (eccDNA) in plasma samples from EGFR‐mutated non‐small cell lung cancer patients. Plasma was collected before and during treatment with the EGFR‐tyrosine kinase inhibitor osimertinib. Plasma eccDNA was detected in all cancer samples, and the presence of the EGFR gene on eccDNA serves as a potential biomarker ...
Simone Stensgaard   +5 more
wiley   +1 more source

SWI/SNF-like chromatin remodeling factor Fun30 supports point centromere function in S. cerevisiae [PDF]

open access: yes, 2011
Budding yeast centromeres are sequence-defined point centromeres and are, unlike in many other organisms, not embedded in heterochromatin. Here we show that Fun30, a poorly understood SWI/SNF-like chromatin remodeling factor conserved in humans ...
Anna T. Vetter   +13 more
core   +4 more sources

Methylation biomarkers can distinguish pleural mesothelioma from healthy pleura and other pleural pathologies

open access: yesMolecular Oncology, EarlyView.
We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck   +12 more
wiley   +1 more source

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

open access: yesMolecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice   +16 more
wiley   +1 more source

A case of 18p deletion syndrome after blepharoplasty

open access: yesInternational Medical Case Reports Journal, 2017
Li-juan Xu,1 Lv-xian Wu,2 Qing Yuan,3 Zhi-gang Lv,1 Xue-yan Jiang2 1Department of Opthalmology, 2Department of Pediatrics, 3Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang, People’s Republic of China Objective: The ...
Xu LJ, Wu LX, Yuan Q, Lv ZG, Jiang XY
doaj  

A New ‘Deleted’ Rh-Chromosome [PDF]

open access: yesNature, 1958
IN 1950, Race, Sanger and Selwyn reported1 a very unusual Rh phenotype characterized by an extraordinary strong reaction with anti-D sera and completely negative reaction with anti-C, anti-c, anti-E and anti-e sera. The case was explained as the homozygous form of a partially deleted Rh chromosome, designated D − −.
openaire   +2 more sources

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

open access: yesMolecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris   +10 more
wiley   +1 more source

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