Results 11 to 20 of about 4,383 (155)

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Gαq signalling from endosomes: A new conundrum

British Journal of Pharmacology, EarlyView., 2023
Abstract G‐protein‐coupled receptors (GPCRs) constitute the largest family of membrane receptors, and are involved in the transmission of a variety of extracellular stimuli such as hormones, neurotransmitters, light and odorants into intracellular responses.
Carole Daly, Bianca Plouffe
wiley   +1 more source

Break down the barriers of auto‐inflammation: How to deal with a monogenic auto‐inflammatory disease and immuno‐haematological features in 2022?

Immunology, Volume 168, Issue 1, Page 1-17, January 2023., 2023
In the past few years, the spectrum of monogenic systemic auto‐inflammatory diseases has widely expanded beyond the typical recurrent fever. Immuno‐haematological features, as cytopenias, hypogammaglobulinemia, hypereosinophilia, lymphoproliferation and immunodeficiency, have been described in association of several MSAID.
Hélène Vergneault, Capucine Picard, Sophie Georgin‐Lavialle   +2 more
wiley   +1 more source

Energetic constraints on filament mediated cell polarization [PDF]

, 2021
Cell polarization underlies many cellular processes, such as differentiation, migration, and budding. Many living cells, such as budding yeast and fission yeast, use cytoskeletal structures to actively transport proteins to one location on the membrane and create a high density spot of membrane-bound proteins.
arxiv   +1 more source

Vascular endothelial growth factor‐C in activating vascular endothelial growth factor receptor‐3 and chemokine receptor‐4 in melanoma adhesion

Journal of Cellular and Molecular Medicine, Volume 26, Issue 23, Page 5743-5754, December 2022., 2022
Abstract Vascular endothelial growth factor‐C (VEGF‐C) binds to receptor vascular endothelial growth factor receptor‐3 (VEGFR‐3) expressed on lymphatic endothelial and melanoma cells. Binding of VEGF‐C to VEGFR‐3 enhances receptor phosphorylation that activates mitogen‐activated protein kinase (MAP‐K) and phosphatidylinositol‐3‐kinase (PI3K).
Yvette N. Hlophe, Anna M. Joubert
wiley   +1 more source

Mechanisms involved in the regulation of neuropeptide-mediated neurite outgrowth: a minireview

Endocrine Regulations, 2016
The present knowledge, regarding the neuronal growth and neurite extension, includes neuropeptide action in the central nervous system. Research reports have brought much information about the multiple intracellular signaling pathways of neuropeptides ...
Lestanova Z., Bacova Z., Bakos Jan
doaj   +1 more source

Mitosis can drive cell cannibalism through entosis

eLife, 2017
Entosis is a form of epithelial cell cannibalism that is prevalent in human cancer, typically triggered by loss of matrix adhesion. Here, we report an alternative mechanism for entosis in human epithelial cells, driven by mitosis.
Joanne Durgan, Yun-Yu Tseng, Jens C Hamann, Marie-Charlotte Domart, Lucy Collinson, Alan Hall, Michael Overholtzer, Oliver Florey   +7 more
doaj   +1 more source

Pattern Formation in a Coupled Membrane-Bulk Reaction-Diffusion Model for Intracellular Polarization and Oscillations [PDF]

Journal of Theoretical Biology, 2020, Vol. 497, 110242 (23 pages), 2019
Reaction-diffusion systems have been widely used to study spatio-temporal phenomena in cell biology, such as cell polarization. Coupled bulk-surface models naturally include compartmentalization of cytosolic and membrane-bound polarity molecules. Here we study the distribution of the polarity protein Cdc42 in a mass-conserved membrane-bulk model, and ...
arxiv   +1 more source

The PI3K inhibitor pictilisib and the multikinase inhibitors pazopanib and sorafenib have an impact on Rac1 level and migration of medulloblastoma in vitro

Journal of Cellular and Molecular Medicine, Volume 26, Issue 23, Page 5832-5845, December 2022., 2022
Abstract Metastatic disease is the leading cause of death in children suffering from medulloblastoma and a major treatment challenge. The evidence of leptomeningeal dissemination defines the most aggressive tumours and is associated with increased mortality; thus, inhibition of migration as a factor involved in the process of metastatic disease is ...
Leonie F. Schoen, Rogerio B. Craveiro, Torsten Pietsch, Thomas Moritz, Anja Troeger, Silvia Jordans, Dagmar Dilloo   +6 more
wiley   +1 more source