Results 71 to 80 of about 68,702 (192)

Single Cell RNA Transcriptomics of Mantle Cell Lymphoma Reveals the Presence of Treatment‐Resistant Subclones at the Time of Diagnosis

American Journal of Hematology, EarlyView.
ABSTRACT Mantle cell lymphoma (MCL) is a B‐cell malignancy with a chronically relapsing clinical course and pronounced genetic heterogeneity. To investigate the clonal dynamics underlying early disease relapse, we performed single‐cell RNA sequencing of paired tumor samples collected at diagnosis and at first relapse. Inference of copy number variants (
Dmitry Manakov, Magdalena Klanova, Michal Kolar, Robert Ivanek, Florian Geier, Julien Roux, Tomas Zikmund, Lucie Winkowska, Eva Kriegova, Jirina Manakova, Liliana Tuskova, Silvia Spanikova, Alexandra Scasna, Marek Trneny, Pavel Klener   +14 more
wiley   +1 more source

BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance

Nature Communications, 2019
BRCA1 mutations located within the BRCT domain result in proteasomal degradation and sensitivity to PARP inhibitors (PARPi). Here, the authors report genetic rearrangements in the BRCA1 gene that generate a BRCT-less BRCA1 protein isoform, which avoids ...
Yifan Wang, Andrea J. Bernhardy, Joseph Nacson, John J. Krais, Yin-Fei Tan, Emmanuelle Nicolas, Marc R. Radke, Elizabeth Handorf, Alba Llop-Guevara, Judith Balmaña, Elizabeth M. Swisher, Violeta Serra, Suraj Peri, Neil Johnson   +13 more
doaj   +1 more source

The BRCA1 Breast Cancer Suppressor: Regulation of Transport, Dynamics, and Function at Multiple Subcellular Locations

Scientifica, 2012
Inherited mutations in the BRCA1 gene predispose to a higher risk of breast/ovarian cancer. The BRCA1 tumor suppressor is a 1863 amino acid protein with multiple protein interaction domains that facilitate its roles in regulating DNA repair and ...
Beric R. Henderson
doaj   +1 more source

A complete protein truncation test for BRCA1 and BRCA2 [PDF]

European Journal of Human Genetics, 1998
The protein truncation test (PTT) is currently the fastest method in general use for detecting previously unidentified mutations in tumor suppressor genes. Greater than three kilobases of coding sequence can be screened by one PCR reaction, one coupled in vitro transcription/translation reaction, and one lane on an SDS-PAGE gel.
openaire   +2 more sources

Phagocytic Mesothelial Cells in Pericardial Effusion Following Allogeneic Peripheral Blood Stem Cell Transplantation for Chronic Active Epstein–Barr Virus Infection: A Distinctive Cytomorphological and Immunocytochemical Case Study

Diagnostic Cytopathology, EarlyView.
ABSTRACT Phagocytic activity of mesothelial cells is a rare phenomenon requiring careful differentiation from histiocytic hemophagocytosis to ensure appropriate patient management, as these phenomena could exhibit distinct clinical implications. In this study, we report a case of phagocytic mesothelial cells found in pericardial effusion that developed
Hidetoshi Satomi, Ayumi Ryu, Sei Murayama, Hiroya Kojima, Satoshi Tanada, Keiichiro Honma   +5 more
wiley   +1 more source

Cuproptosis‐Related Genes in Immune Infiltration and Diagnosis in Hepatitis B Virus‐Related Acute Liver Failure

Exploration, EarlyView.
The role of cuproptosis in HBV‐ALF was explored via bioinformatics and liver biopsy tissues. There are some crosstalks among cuproptosis, immune infiltration, and ferroptosis (The figure was created by Bio Render). ABSTRACT Hepatitis B virus (HBV) infection poses a significant challenge to global health, particularly in developing countries such as ...
Jingwen Deng, Tao Zhu, Yueyang Wang, Sitong Zhang, Hong Deng, Guilan Quan, Tingting Peng, Chuanbin Wu, Huiqiang Cai, Chao Lu, Xiaopeng Cai   +10 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

c-Myc activates BRCA1 gene expression through distal promoter elements in breast cancer cells

BMC Cancer, 2011
Background The BRCA1 gene plays an important role in the maintenance of genomic stability. BRCA1 inactivation contributes to breast cancer tumorigenesis. An increasing number of transcription factors have been shown to regulate BRCA1 expression.
Huo Dezheng, Collins Cindy, Borowicz Stanley, Xu Jinhua, Chen Yinghua, Olopade Olufunmilayo I   +5 more
doaj   +1 more source

ID3 deficiency alters chromatin accessibility at DSB sites and enhances vulnerability to HDAC inhibition

International Journal of Cancer, EarlyView.
What's New? Errors in DNA double‐strand break (DSB) repair can lead to mutations, chromosomal instability, and ultimately cancer. Inhibitor of DNA‐binding 3 (ID3), a transcriptional repressor, is crucial to promoting DSB repair and helping maintain genome stability. Here, the authors investigated ID3 regulation of DNA repair via chromatin accessibility
Giuditta Della Corte, Hossam Eldesouky, Julia Puchan, Sercan Öz, Elena Everatt, Ashish Goyal, Gianluca Sigismondo, Udo Oppermann, Christoph Plass, Dieter Weichenhan, Ali Bakr   +10 more
wiley   +1 more source

PVT1 lincRNA signals an androgen‐dependent transcriptional activation program of oncogenes in prostate cancer cells

International Journal of Cancer, EarlyView.
What's New? Unraveling the networks that regulate androgen receptor (AR) function is critical to better understanding prostate cancer development and progression. Of particular interest in this regard is the long non‐coding RNA PVT1, which regulates gene expression in cancer and is upregulated in prostate tumors.
Maria Gabriela Berzoti‐Coelho, Fabio Nunes de Mello, Ana Carolina Tahira, Gabriel Nakanishi Fortes, Agatha Fischer‐Carvalho, Pedro Jardim Poli, Murilo Sena Amaral, Sergio Verjovski‐Almeida   +7 more
wiley   +1 more source