Results 121 to 130 of about 688,262 (355)

New Insights on the Genetics of Pheochromocytoma and Paraganglioma and Its Clinical Implications [PDF]

, 2022
Sakshi Jhawar, Yasuhiro Arakawa, Suresh Kumar, Diana Grace Varghese, Yoo Sun Kim, Nitin Roper, Fathi Elloumi, Yves Pommier, Karel Pacák, Jaydira Del Rivero   +9 more
openalex   +1 more source

Subtype‐specific enhancer RNAs define transcriptional regulators and prognosis in breast cancers

Molecular Oncology, EarlyView.
This study employed machine learning methodologies to perform the subtype‐specific classification of RNA‐seq data sets, which are mapped on enhancers from TCGA‐derived breast cancer patients. Their integration with gene expression (referred to as ProxCReAM eRNAs) and chromatin accessibility profiles has the potential to identify lineage‐specific and ...
Aamena Y. Patel, Peyman Zarrineh, Nathnael T. Tuffa, Jigar H. Sheth, Sumitra Mohan, Mudassar Iqbal, Sankari Nagarajan   +6 more
wiley   +1 more source

Predictive gene expression profile for adjuvant taxane benefit in breast cancer in the MATADOR trial

iScience
Summary: The primary objective of the prospective, randomized, multicenter, phase 3 biomarker Microarray Analysis in breast cancer to Taylor Adjuvant Drugs Or Regimens trial (MATADOR: ISRCTN61893718) is to generate a gene expression profile that can ...
Mark Opdam, Annelot G.J. van Rossum, Marlous Hoogstraat, Gergana Bounova, Hugo M. Horlings, Erik van Werkhoven, Ingrid A.M. Mandjes, A. Elise van Leeuwen – Stok, Sander Canisius, Harm van Tinteren, Alex L.T. Imholz, Johanneke E.A. Portielje, Monique E.M.M. Bos, Sandra Bakker, Jelle Wesseling, Lennart Kester, Jacco van Rheenen, Emiel J. Rutgers, Renee X. de Menezes, Lodewyk F.A. Wessels, Marleen Kok, Hendrika M. Oosterkamp, Sabine C. Linn, Sabine C. Linn, Marcel Soesan, Rianne M. Oosterkamp, Frank Jeurissen, Nir Weijl, Alex L.T. Imholz, Johanneke E.A. Portielje, Karin J. Beelen, Monique E.M.M. Bos, Aart van Bochove, Gerty de Klerk, Suzan Vrijaldenhoven, Annette van der Velden, Hiltje de Graaf, Marielle Smeets, Jetske Meerum Terwogt, Jolanda Schrama, Philomeen Kuijer, Hanneke Wilmink, Ronald Hoekstra, Judith Kroep, Hans F.M. Pruijt, Leander van Gerven, Allert H. Vos, Frans Erdkamp, Willemien G. van Leeuwen-Breuk, Alexander de Graeff   +49 more
doaj   +1 more source

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers. [PDF]

Cureus, 2023
Kumari K, Saleh I, Taslim S, Ahmad S, Hussain I, Munir Z, Javed T, Virk MFI, Javed S, Bisharat P, Ur Rehman U.   +10 more
europepmc   +1 more source

Atlas of the clinical genetics of human dilated cardiomyopathy [PDF]

, 2014
Jan Haas, Karen Frese, Barbara Peil, Wanda Kloos, Andreas Keller, Rouven Nietsch, Zhu Feng, Sabine Müller, Elham Kayvanpour, Britta Vogel, Farbod Sedaghat‐Hamedani, Wei-Keat Lim, Xiaohong Zhao, Dmitriy Fradkin, Doreen Köhler, Simon Fischer, Jennifer Franke, Sabine Marquart, Ioana Barb, Daniel Tian Li, Ali Amr, Philipp Ehlermann, Derliz Mereles, Tanja Weis, Sarah Hassel, Andreas Kremer, Vanessa King, Emil Wirsz, Richard Isnard, Michel Komajda, Alessandra Serio, Maurizia Grasso, Petros Syrris, Eleanor Wicks, Vincent Plagnol, Luís R. Lopes, Tenna Gadgaard, Hans Eiskjær, Mads Emil Jørgensen, Diego García-Giustiniani, Martín Ortiz-Genga, María G. Crespo‐Leiro, Rondal H. Lekanne Dit Deprez, Imke Christiaans, Ingrid A van Rijsingen, Arthur A. Wilde, Anders Waldenström, Martino Bolognesi, Riccardo Bellazzi, Stellan Mörner, Justo Lorenzo Bermejo, Lorenzo Monserrat, Eric Villard, Jens Mogensen, Yigal M. Pinto, Philippe Charron, Perry Elliott, Eloisa Arbustini, Hugo A. Katus, Benjamin Meder   +59 more
openalex   +1 more source

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. [PDF]

Appl Clin Genet, 2023
Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E.   +3 more
europepmc   +1 more source

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. [PDF]

Am J Ophthalmol, 2023
Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M.   +11 more
europepmc   +1 more source

Medical genetics in clinical practice.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974
Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an analysis and discussion of the problems presented by these individuals.S. Afr. Med.
Beighton, PH, Nelson, MM
openaire   +3 more sources