Results 41 to 50 of about 100,877 (263)

Pharmacological chromatin remodeling enhances response to estrogen therapy in ER+ breast cancer

Molecular Oncology, EarlyView.
Estrogen therapy elicits clinical benefit in ~ 30% of patients with endocrine‐resistant estrogen receptor (ER)‐positive breast cancer. Based on findings that ER transcriptional activation underlies response to estrogen therapy, we tested the effects of epigenetic dysregulation via pharmacological inhibition of histone deacetylases (HDACi).
Anneka L. Johnson Thomas, Barbara Karakyriakou, Patricia C. Muskus, Alyssa M. Roberts, Justin Rendleman, Alexa Warren, Hanxu Lu, Kimberly A. Birmingham, Malone K. Friedman, Abigail E. Goen, Huijuan Yang, Owen M. Wilkins, Fred W. Kolling, Eugene Demidenko, Julie M. Jorns, Brock C. Christensen, Todd W. Miller   +16 more
wiley   +1 more source

9q34 & 16p13 chromosome duplications in autism

AME Case Reports, 2020
Epigenetic mechanisms, genetic factors, and environment influence the diversity of phenotypes developed in various diseases. Duplications in several chromosomes are well characterized in the scientific literature, but partial duplications, in some cases, present with milder forms of a disease and are yet to be understood.
Simon E, Carlo, Maria T, Martinez-Baladejo, Alberto, Santiago-Cornier, Norma, Arciniegas-Medina   +3 more
openaire   +2 more sources

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

Arginine methylation as a regulatory ratchet in cancer: From substrate selection to malignant‐state stabilization

Molecular Oncology, EarlyView.
Arginine methylation can be viewed as a persistence‐prone post‐translational modification regulated by a network of PRMTs. Competitive and compensatory interactions among PRMTs can redistribute methylation across substrate pools shaped by sequence, structural, spatial, and environmental layers, reinforcing RNA‐processing, chromatin, and signaling ...
So Hyun Kwon, Ji Min Lee
wiley   +1 more source

Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats

BMC Genomics
Background Coat color is one of the most easily recognizable appearance traits used to discriminate livestock breeds and individuals. This study investigated the genetic loci and candidate genes affecting pigmented spots in Tianfu (TF) goats. Results The
Jiazhong Guo, Qingsi Huang, Qiunan Xiang, Guo Wu, Peipei Bian, Xihong Wang, Li Li, George E. Liu, Hongping Zhang   +8 more
doaj   +1 more source

Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review

Frontiers in Genetics, 2023
Structural rearrangements of chromosome 4p gives rise to a group of rare genomic disorders that mainly result in two different clinical entities: Wolf-Hirschhorn syndrome (WHS) and partial 4p trisomy.
Xuan Zhang, Hongjuan Lu, Hanran Yang, Yichen Ji, Huixin Liu, Wenjian Liu, Jiayi Li, Zhixian Yang, Wei Sun   +8 more
doaj   +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 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

A de novo chromosome 9p duplication in a female child with short stature and developmental delay

SAGE Open Medical Case Reports, 2023
Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature.
Tinatin Tkemaladze, Kakha Bregvadze, Nikoloz Papiashvili, Sopio Gagua, Elene Abzianidze   +4 more
doaj   +1 more source

ATZ‐1 promotes DNA replication efficiency to maintain normal meiotic function

FEBS Open Bio, EarlyView.
Absence of ATZ‐1 interferes with meiotic DNA replication and cell cycle function via CHK‐1. This causes downstream defects associated with DNA damage and genomic integrity. Taken together, this study suggests that ATZ‐1 influences DNA replication efficiency and cell cycle function to maintain normal meiotic function.
Taylin E. Gourley, Luke W. Molesworth, Nethma H. Waduge, Fahimeh Eskandari, Peter R. Boag, Gregory M. Davis   +5 more
wiley   +1 more source