Results 321 to 330 of about 982,148 (390)

System level network data and models attack cancer drug resistance

British Journal of Pharmacology, EarlyView.
Drug resistance is responsible for >90% of cancer related deaths. Cancer drug resistance is a system level network phenomenon covering the entire cell. Small‐scale interactomes and signalling network models of drug resistance guide directed drug development.
Márk Kerestély, Dávid Keresztes, Levente Szarka, Borbála M. Kovács, Klára Schulc, Dániel V. Veres, Peter Csermely   +6 more
wiley   +1 more source

Chromosomal Translocation Formation Is Sufficient to Produce Fusion Circular RNAs Specific to Patient Tumor Cells.

iScience, 2018
Babin L, Piganeau M, Renouf B, Lamribet K, Thirant C, Deriano L, Mercher T, Giovannangeli C, Brunet EC.   +8 more
europepmc   +1 more source

Identification of a Distal Enhancer That Regulates TGF‐β–Induced SNAI1 Expression

Cancer Science, EarlyView.
In TGF‐β–stimulated cells, the activated Smad complex composed of Smad3 and Smad4 associates with the distal super enhancer region 2 (DSE2) and enhances its interaction with the SNAI1 proximal promoter, thus inducing SNAI1 expression. RREB1 regulates the basal activity of the enhancer but not its inducibility by TGF‐β.
Hao Fu, Yuka Itoh, Tomoe Sawaguchi, Shigeo Otake, Chiho Omata, Masao Saitoh, Keiji Miyazawa   +6 more
wiley   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock‐In Model for Human DFNX1 Deafness

Clinical Genetics, EarlyView.
Our mouse model with a c.259G>A transition in PRPS1 showed a significant decrease in the number of hair cells and SGN counts at 48 weeks of age and a reduction in Prps1 enzymatic activity in the KI mouse. This model will serve as a valuable tool for developing therapeutic strategies.
Denise Yan, M'hamed Grati, Rahul Mittal, Yi‐Zhou Quan, Wan Du, Zheng‐Yi Chen, Xue Zhong Liu   +6 more
wiley   +1 more source

FISH of Alu-PCR amplified YAC clones and applications in tumor cytogenetics [PDF]

, 1994
Choo, K. H. A., Cremer, Thomas, Lengauer, Christoph, Speicher, Michael R.   +3 more
core  

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Modeling the t(2;5) Translocation of Anaplastic Large Cell Lymphoma Using CRISPR-Mediated Chromosomal Engineering. [PDF]

Cancers (Basel)
Khan R, Phely L, Ehrenfeld S, Schmitz T, Veratti P, Wolfes J, Shoumariyeh K, Andrieux G, Martens US, Bra S, Auer M, Schilling O, Boerries M, Speicher M, Illert AL, Duyster J, Miething C.   +16 more
europepmc   +1 more source

Karyotypic analysis of 62,587 Han Chinese infertile couples undergoing assisted reproductive technology treatments: insights into chromosomal variations. [PDF]

BMC Genomics
Zhu S, Zhang Q, Hu M, Zhang Y, Sun A, Gao X, Chen H, Yan J.   +7 more
europepmc   +1 more source

A novel PML germline variant as a candidate predisposing genetic aberration in familial acute myeloid leukaemia

British Journal of Haematology, EarlyView.
Thierry Soussi, Snehangshu Kundu, Pauline Gerbaud, Tatjana Pandzic, Berivan Baskin, Claes Ladenvall, François Delhommeau, Tobias Sjöblom, Panagiotis Baliakas   +8 more
wiley   +1 more source