Results 51 to 60 of about 562,941 (291)

Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells

JACC: Basic to Translational Science, 2018
Summary: A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell–derived cardiomyocytes.
Kai-Chun Yang, MD, Astrid Breitbart, MD, Willem J. De Lange, PhD, Peter Hofsteen, PhD, Akiko Futakuchi-Tsuchida, BS, Joy Xu, MSE, Cody Schopf, BS, Maria V. Razumova, PhD, Alex Jiao, PhD, Robert Boucek, MD, Lil Pabon, PhD, Hans Reinecke, PhD, Deok-Ho Kim, PhD, J. Carter Ralphe, MD, Michael Regnier, PhD, Charles E. Murry, MD, PhD   +15 more
doaj   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

Molecular Oncology, EarlyView.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak, Karolina Pytlak, Sandra Jaworowska, Bogusz Kulawiak, Piotr Bednarczyk   +4 more
wiley   +1 more source

Immunoglobulin heavy chain gene rearrangements in patients with Gaucher disease [PDF]

Journal of Medical Biochemistry, 2018
Background: Several studies support the evidence of increased incidence of hematological complications in Gaucher disease including monoclonal and polyclonal gammopathies and blood malignancies, especially multiple myeloma.
Rodić Predrag, Lakočević Milan, Pavlović Sonja, Karan-Đurašević Teodora, Kostić Tatjana, Suvajdžić-Vuković Nada, Šumarac Zorica, Petakov Milan, Janić Dragana   +8 more
doaj  

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Cellular Phenotypic Transformation in Heart Failure Caused by Coronary Heart Disease and Dilated Cardiomyopathy: Delineating at Single-Cell Level

Biomedicines, 2022
Heart failure (HF) is known as the final manifestation of cardiovascular diseases. Although cellular heterogeneity of the heart is well understood, the phenotypic transformation of cardiac cells in progress of HF remains obscure.
Luojiang Zhu, Wen Wang, Changzhen Ren, Yangkai Wang, Guanghao Zhang, Jianmin Liu, Weizhong Wang   +6 more
doaj   +1 more source

Identification of serum protein biomarkers for pre‐cancerous lesions associated with pancreatic ductal adenocarcinoma

Molecular Oncology, EarlyView.
This work identified serum proteins associated with pancreatic epithelial neoplasms (PanINs) and early‐stage PDAC. Proteomics screens assessed genetically engineered mice with abundant PanINs, KPC mice (Lox‐STOP‐Lox‐KrasG12D/+ Lox‐STOP‐Lox‐Trp53R172H/+ Pdx1‐Cre) before PDAC development and also early‐stage PDAC patients (n = 31), compared to benign ...
Hannah Mearns, Jaclyn S. Long, Sergio Lilla, Kelly Hodge, Marcus J. G. W. Ladds, Colin Nixon, Paula Fernández‐Palanca, Sara Zanivan, Pilar Acedo, Stephen P. Pereira, Kevin M. Ryan   +10 more
wiley   +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

Multiple myeloma shows no intra-disease clustering of immunoglobulin heavy chain genes

Haematologica, 2012
Background Characterization of the immunoglobulin gene repertoire has improved our understanding of the immunopathogenesis of lymphoid tumors. Early B-lymphocyte precursors of multiple myeloma are known to exist and might be susceptible to antigenic ...
Simone Ferrero, Daniela Capello, Mirija Svaldi, Michela Boi, Daniela Gatti, Daniela Drandi, Davide Rossi, Sara Barbiero, Barbara Mantoan, Elisabetta Mantella, Manuela Zanni, Paola Ghione, Alessandra Larocca, Roberto Passera, Francesco Bertoni, Valter Gattei, Francesco Forconi, Luca Laurenti, Giovanni Del Poeta, Roberto Marasca, Sergio Cortelazzo, Gianluca Gaidano, Antonio Palumbo, Mario Boccadoro, Marco Ladetto   +24 more
doaj   +1 more source

A One Health Approach to Hypertrophic Cardiomyopathy. [PDF]

, 2017
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease in humans and results in significant morbidity and mortality. Research over the past 25 years has contributed enormous insight into this inherited disease particularly in the ...
Stern, Joshua A, Ueda, Yu
core   +1 more source