Holmquist Mengelbier, Linda Lindell-Munther, Simon Yasui, Hiroaki Jansson, Caroline Esfandyari, Javanshir Karlsson, Jenny Lau, Kimberly Hui, Chi-Chung Bexell, Daniel Hopyan, Sevan
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Published in
The Journal of pathology
Wilms tumour is a paediatric malignancy with features of halted kidney development. Here, we demonstrate that the Iroquois homeobox genes IRX3 and IRX5 are essential for mammalian nephrogenesis and govern the differentiation of Wilms tumour. Knock-out Irx3- /Irx5- mice showed a strongly reduced embryonic nephron formation. In human foetal kidney an...
Gomez-Puerto, Maria Catalina Iyengar, Prasanna Vasudevan García de Vinuesa, Amaya Ten Dijke, Peter Sanchez-Duffhues, Gonzalo
Published in
The Journal of pathology
Bone morphogenetic proteins (BMPs) are secreted cytokines that were initially discovered on the basis of their ability to induce bone. Several decades of research have now established that these proteins function in a large variety of physiopathological processes. There are about 15 BMP family members, which signal via three transmembrane type II r...
Gagné-Sansfacon, Jessica Langlois, Ariane Langlois, Marie-Josée Coulombe, Geneviève Tremblay, Sarah Vaillancourt-Lavigueur, Vanessa Qu, Cheng-Kui Menendez, Alfredo Rivard, Nathalie
Published in
The Journal of pathology
The Src homology-2 domain-containing tyrosine phosphatase 2 (SHP-2) regulates many cellular processes, including proliferation, differentiation and survival. Polymorphisms in the gene encoding SHP-2 are associated with an increased susceptibility to develop ulcerative colitis. We recently reported that intestinal epithelial cell (IEC)-specific dele...
Amato, Eliana Mafficini, Andrea Hirabayashi, Kenichi Lawlor, Rita T Fassan, Matteo Vicentini, Caterina Barbi, Stefano Delfino, Pietro Sikora, Katarzyna Rusev, Borislav
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Published in
The Journal of pathology
Solid pseudopapillary neoplasms (SPN) of the pancreas are rare, low-grade malignant neoplasms that metastasise to the liver or peritoneum in 10-15% of cases. They almost invariably present somatic activating mutations of CTNNB1. No comprehensive molecular characterisation of metastatic disease has been conducted to date. We performed whole-exome se...
Thijssen, Victor Ljl Paulis, Yvette Wj Nowak-Sliwinska, Patrycja Deumelandt, Katrin L Hosaka, Kayoko Soetekouw, Patricia Mmb Cimpean, Anca M Raica, Marius Pauwels, Patrick van den Oord, Joost J
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Published in
The Journal of pathology
Aggressive tumor cells can adopt an endothelial cell-like phenotype and contribute to the formation of a tumor vasculature, independent of tumor angiogenesis. This adoptive mechanism is referred to as vascular mimicry and it is associated with poor survival in cancer patients. To what extent tumor cells capable of vascular mimicry phenocopy the ang...
Martner, Anna Aydin, Ebru Hellstrand, Kristoffer
Published in
The Journal of Pathology
Myeloid cell NADPH oxidase isoform 2 (NOX2) generates reactive oxygen species (ROS) that participate in defense against microbial pathogens. Humans with compromised NOX2‐mediated ROS formation develop chronic granulomatous disease characterized by recurrent bacterial and fungal infections. Additionally, impaired NOX2 function entails hyperactive ly...
Foth, Mona Ismail, Nur Faezah Binti Kung, Jeng Sum Charmaine Tomlinson, Darren Knowles, Margaret A Eriksson, Pontus Sjödahl, Gottfrid Salmond, Jonathan M Sansom, Owen J Iwata, Tomoko
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Published in
The Journal of pathology
Recent studies of muscle-invasive bladder cancer show that FGFR3 mutations are generally found in a luminal papillary tumour subtype that is characterised by better survival than other molecular subtypes. To better understand the role of FGFR3 in invasive bladder cancer, we examined the process of tumour development induced by the tobacco carcinoge...
Lunova, Mariia Schwarz, Peggy Nuraldeen, Renwar Levada, Kateryna Kuscuoglu, Deniz Stützle, Michael Vujić Spasić, Maja Haybaeck, Johannes Ruchala, Piotr Jirsa, Milan
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Published in
The Journal of Pathology
Iron is both an essential and a potentially toxic element, and its systemic homeostasis is controlled by the iron hormone hepcidin. Hepcidin binds to the cellular iron exporter ferroportin, causes its degradation, and thereby diminishes iron uptake from the intestine and the release of iron from macrophages. Given that hepcidin-resistant ferroporti...
Han, Hui Zhu, Jinzhou Wang, Yaqiong Zhu, Zhengbin Chen, Yanjia Lu, Lin Jin, Wei Yan, Xiaoxiang Zhang, Ruiyan
Published in
The Journal of pathology
Renal fibrosis is a significant threat to public health globally. Diverse primary aetiologies eventually result in chronic kidney disease (CKD) and immune cells influence this process. The roles of monocytes/macrophages, T cells, and mast cells have been carefully examined, whilst only a few studies have focused on the effect of B cells. We investi...
Delion, Martial Braux, Julien Jourdain, Marie-Laure Guillaume, Christine Bour, Camille Gangloff, Sophie Le Pimpec-Barthes, Françoise Isabelle Sermet-Gaudelus Jacquot, Jacky Velard, Frédéric
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Published in
The Journal of Pathology
Bone fragility and loss are a significant cause of morbidity in patients with cystic fibrosis (CF), and the lack of effective therapeutic options means that treatment is more often palliative rather than curative. A deeper understanding of the pathogenesis of CF-related bone disease (CFBD) is necessary to develop new therapies. Defective CF transme...
