Results 41 to 50 of about 287,317 (259)

Efficient Generation of Random Chromosome Deletions

BioTechniques, 2007
Chromosome Deletions: Where Less Says More The ability to generate large chromosomal deletions and assay the phenotype in cells can provide valuable information regarding genes located within the d...
Yiwei Tony Zhu, Chao Qi, Liping Hu, Yi-Jun Zhu   +3 more
openaire   +3 more sources

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

Frontiers in Genetics, 2020
In mammalian females, X-chromosome inactivation (XCI) acts as a dosage compensation mechanism that equalizes X-linked genes expression between homo- and heterogametic sexes.
Cíntia B. Santos-Rebouças, Raquel Boy, Evelyn Q. Vianna, Andressa P. Gonçalves, Rafael M. Piergiorge, Bianca B. Abdala, Jussara M. dos Santos, Veluma Calassara, Filipe B. Machado, Enrique Medina-Acosta, Márcia M. G. Pimentel   +10 more
doaj   +1 more source

Cancer cell‐intrinsic type 1 interferon: production, signaling, and outcomes within sex‐biased, female malignancies

Molecular Oncology, EarlyView.
The cell‐autonomous roles of interferon type 1 vary based on duration and intensity. While acute, robust signaling results in cancer cell cytotoxic effects, sustained, low‐level signaling is associated with tumor‐promoting effects. This review summarizes current research of IFN‐1 in cancer and within the clinical setting, with an emphasis on female ...
Ashlyn Conant, Nora Badiner, Sharon Asariah, Kiera McGivney, Vishwa Shah, Tise Suzuki, Yevgeniya J. Ioffe, Juli J. Unternaehrer   +7 more
wiley   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

A De Novo Deletion of Chromosome 18p with Persistent Limb Tremor and Difficulty Speaking

Caspian Journal of Neurological Sciences, 2019
Background: The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development.
Aghil Esmaeili-Bandboni, Arash Davoudi, Forozan Milani, Sara Afzali, Alireza Sharafshah, Fereshteh Fallahabadi, Parvaneh Keshavarz   +6 more
doaj  

A yeast model of 5‐oxoproline accumulation reveals a general toleration to 5‐oxoproline

FEBS Open Bio, EarlyView.
Using a yeast model, we show that even high accumulation of 5‐oxoproline causes only mild cellular stress and does not trigger oxidative stress. Instead, cells adapt by activating efflux pumps and diverse protective pathways, suggesting that previously proposed harmful effects of 5‐oxoproline may arise from indirect metabolic imbalances rather than the
Pratiksha Dubey, Vaishnavi Sanjayan, Praveen Singh, Shantanu Sengupta, Anand Kumar Bachhawat   +4 more
wiley   +1 more source

FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME

Медицинская иммунология, 2017
The work represents a family which includes two siblings with chromosome 22q11.2 deletion syndrome. Their mother carries the same chromosome anomaly, but with apparently normal phenotype.
I. A. Tuzankina, S. S. Deryabina, E. V. Vlasova, M. A. Bolkov   +3 more
doaj   +1 more source