Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
JOURNAL ARTICLE
Jeroen F J Bogie, Tim Vanmierlo, Jasmine Vanmol, Silke Timmermans, Jo Mailleux, Katherine Nelissen, Erwin Wijnands, Kristiaan Wouters, Piet Stinissen, Jan-Åke Gustafsson, Knut R Steffensen, Monique Mulder, Noam Zelcer, Jerome J A Hendriks
The initiation and progression of autoimmune disorders such as multiple sclerosis (MS) is linked to aberrant cholesterol metabolism and overt inflammation. Liver X receptors (LXR) are nuclear receptors that function at the crossroads of cholesterol metabolism and immunity, and their activation is considered a promising therapeutic strategy to attenuate autoimmunity. However, despite clear functional heterogeneity and cell-specific expression profiles, the impact of the individual LXR isoforms on autoimmunity remains poorly understood...
November 2021: Journal of Autoimmunity
#22
JOURNAL ARTICLE
Marie-A Chaix, Neha Parmar, Caroline Kinnear, Myriam Lafreniere-Roula, Oyediran Akinrinade, Roderick Yao, Anastasia Miron, Emily Lam, Guoliang Meng, Anne Christie, Ashok Kumar Manickaraj, Stacey Marjerrison, Rejane Dillenburg, Mylène Bassal, Jane Lougheed, Shayna Zelcer, Herschel Rosenberg, David Hodgson, Leonard Sender, Paul Kantor, Cedric Manlhiot, James Ellis, Luc Mertens, Paul C Nathan, Seema Mital
Background: Despite known clinical risk factors, predicting anthracycline cardiotoxicity remains challenging. Objectives: This study sought to develop a clinical and genetic risk prediction model for anthracycline cardiotoxicity in childhood cancer survivors. Methods: We performed exome sequencing in 289 childhood cancer survivors at least 3 years from anthracycline exposure. In a nested case-control design, 183 case patients with reduced left ventricular ejection fraction despite low-dose doxorubicin (≤250 mg/m2 ), and 106 control patients with preserved left ventricular ejection fraction despite doxorubicin >250 mg/m2 were selected as extreme phenotypes...
December 2020: JACC CardioOncology
#23
JOURNAL ARTICLE
Maria P Clemente-Olivo, Jayron J Habibe, Mariska Vos, Roelof Ottenhoff, Aldo Jongejan, Hilde Herrema, Noam Zelcer, Sander Kooijman, Patrick C N Rensen, Daniël H van Raalte, Max Nieuwdorp, Etto C Eringa, Carlie J de Vries
OBJECTIVE: Four-and-a-Half-LIM-domain-protein 2 (FHL2) modulates multiple signal transduction pathways but has not been implicated in obesity or energy metabolism. In humans, methylation and expression of the FHL2 gene increases with age, and high FHL2 expression is associated with increased body weight in humans and mice. This led us to hypothesize that FHL2 is a determinant of diet-induced obesity. METHODS: FHL2-deficient (FHL2-/-) and wild type male mice were fed a high-fat diet...
August 2021: Metabolism: Clinical and Experimental
#24
JOURNAL ARTICLE
Carol Durno, Ayse Bahar Ercan, Vanessa Bianchi, Melissa Edwards, Melyssa Aronson, Melissa Galati, Eshetu G Atenafu, Gadi Abebe-Campino, Abeer Al-Battashi, Musa Alharbi, Vahid Fallah Azad, Hagit N Baris, Donald Basel, Raymond Bedgood, Anne Bendel, Shay Ben-Shachar, Deborah T Blumenthal, Maude Blundell, Miriam Bornhorst, Annika Bronsema, Elizabeth Cairney, Sara Rhode, Shani Caspi, Aghiad Chamdin, Stefano Chiaravalli, Shlomi Constantini, Bruce Crooks, Anirban Das, Rina Dvir, Roula Farah, William D Foulkes, Zehavit Frenkel, Bailey Gallinger, Sharon Gardner, David Gass, Mithra Ghalibafian, Catherine Gilpin, Yael Goldberg, Catherine Goudie, Syed Ahmer Hamid, Heather Hampel, Jordan R Hansford, Craig Harlos, Nobuko Hijiya, Saunders Hsu, Junne Kamihara, Rejin Kebudi, Jeffrey Knipstein, Carl Koschmann, Christian Kratz, Valerie Larouche, Alvaro Lassaletta, Scott Lindhorst, Simon C Ling, Michael P Link, Rebecca Loret De Mola, Rebecca Luiten, Michal Lurye, Jamie L Maciaszek, Vanan MagimairajanIssai, Ossama M Maher, Maura Massimino, Rose B McGee, Naureen Mushtaq, Gary Mason, Monica Newmark, Garth Nicholas, Kim E Nichols, Theodore Nicolaides, Enrico Opocher, Michael Osborn, Benjamin Oshrine, Rachel Pearlman, Daniel Pettee, Jan Rapp, Mohsin Rashid, Alyssa Reddy, Lara Reichman, Marc Remke, Gabriel Robbins, Sumita Roy, Magnus Sabel, David Samuel, Isabelle Scheers, Kami Wolfe Schneider, Santanu Sen, Duncan Stearns, David Sumerauer, Carol Swallow, Leslie Taylor, Gregory Thomas, Helen Toledano, Patrick Tomboc, An Van Damme, Ira Winer, Michal Yalon, Lee Yi Yen, Michal Zapotocky, Shayna Zelcer, David S Ziegler, Stefanie Zimmermann, Cynthia Hawkins, David Malkin, Eric Bouffet, Anita Villani, Uri Tabori
PURPOSE: Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. PATIENTS AND METHODS: Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort...
September 1, 2021: Journal of Clinical Oncology
#25
JOURNAL ARTICLE
Brianna Empringham, William J Jennings, Raeesha Rajan, Adam J Fleming, Carol Portwine, Donna L Johnston, Shayna M Zelcer, Shahrad Rod Rassekh, Victoria Tran, Sarah Burrow, Lehana Thabane, M Constantine Samaan
BACKGROUND: Obesity is characterized by the disproportionate expansion of the fat mass and is most commonly diagnosed using the Body Mass Index (BMI) z-score or percentile in children. However, these measures associate poorly with the fat mass. This is important, as adiposity is a more robust predictor of cardiometabolic risk than BMI-based measures, but there are limited clinical measures of adiposity in children. A new measure, the Tri-ponderal Mass Index (TMI, kg/m3 ) has recently demonstrated robust prediction of adiposity in children...
2021: Adolescent Health, Medicine and Therapeutics
#26
JOURNAL ARTICLE
Andreea Nissenkorn, Keren Yosovich, Zvi Leibovitz, Tamar Gur Hartman, Itay Zelcer, Mohammad Hugirat, Dorit Lev, Tally Lerman-Sagie, Lubov Blumkin
BACKGROUND: Congenital mirror movements are involuntary movements of a side of the body imitating intentional movements on the opposite side, appearing in early childhood and persisting beyond 7 years of age. Congenital mirror movements are usually idiopathic but have been reported in association with various brain malformations. METHODS: We describe clinical, genetic, and radiologic features in 9 individuals from 5 families manifesting congenital mirror movements...
June 2021: Journal of Child Neurology
#27
JOURNAL ARTICLE
Nienke M van Loon, Suzanne A E van Wouw, Roelof Ottenhoff, Jessica K Nelson, Jenina Kingma, Saskia Scheij, Martina Moeton, Noam Zelcer
BACKGROUND AND AIMS: Cholesterol metabolism is tightly regulated by transcriptional and post-transcriptional mechanisms. Accordingly, dysregulation of cholesterol metabolism is a major risk factor for the development of coronary artery disease and associated complications. In recent years, it has become apparent that next to the liver, the intestine plays a key role in systemic cholesterol metabolism by governing cholesterol absorption, secretion, and incorporation into lipoprotein particles...
December 2020: Atherosclerosis
#28
JOURNAL ARTICLE
Rebecca Ronsley, Shahrad Rod Rassekh, Adam Fleming, Brianna Empringham, William Jennings, Carol Portwine, Sarah Burrow, Shayna Zelcer, Donna L Johnston, Lehana Thabane, M Constantine Samaan
While children with brain tumors are surviving at record rates, survivors are at risk of cardiovascular disease and type 2 diabetes mellitus; these conditions may be driven by excess body fat. Adiponectin in an adipokine that is inversely associated with the fat mass, and has been linked to cardiometabolic risk stratification in the general population. However, adiponectin's profile and determinants in SCBT have not been established. We tested the hypothesis that high molecular weight (HMW) adiponectin levels, the more biologically active form of adiponectin, were associated with adiposity in SCBT similarly to non-cancer controls...
October 29, 2020: Scientific Reports
#29
JOURNAL ARTICLE
Josephine Mathilde Elisabeth Tan, Miesje Maxime van der Stoel, Marlene van den Berg, Nienke Marlies van Loon, Martina Moeton, Edwin Scholl, Nicole Neeltje van der Wel, Igor Kovačević, Peter Lodewijk Hordijk, Anke Loregger, Stephan Huveneers, Noam Zelcer
The endothelial monolayer forms a barrier between the lumen of blood vessels and the underlying tissues. Stable VE-cadherin-based adherens junctions are essential for maintaining this barrier, whereas their remodeling is required for angiogenesis in health and disease. Here, we position the ERAD-associated ubiquitin ligase MARCH6 as a determinant of angiogenic sprouting and barrier integrity through its ability to promote the degradation of the rate-limiting cholesterol biosynthetic enzyme squalene epoxidase (SQLE)...
August 4, 2020: Cell Reports
#30
JOURNAL ARTICLE
Liana Nobre, Michal Zapotocky, Sara Khan, Kohei Fukuoka, Adriana Fonseca, Tara McKeown, David Sumerauer, Ales Vicha, Wieslawa A Grajkowska, Joanna Trubicka, Kay Ka Wai Li, Ho-Keung Ng, Luca Massimi, Ji Yeoun Lee, Seung-Ki Kim, Shayna Zelcer, Alexandre Vasiljevic, Cécile Faure-Conter, Peter Hauser, Boleslaw Lach, Marie-Lise van Veelen-Vincent, Pim J French, Erwin G Van Meir, William A Weiss, Nalin Gupta, Ian F Pollack, Ronald L Hamilton, Amulya A Nageswara Rao, Caterina Giannini, Joshua B Rubin, Andrew S Moore, Lola B Chambless, Rajeev Vibhakar, Young Shin Ra, Maura Massimino, Roger E McLendon, Helen Wheeler, Massimo Zollo, Veronica Ferruci, Toshihiro Kumabe, Claudia C Faria, Jaroslav Sterba, Shin Jung, Enrique López-Aguilar, Jaume Mora, Carlos G Carlotti, James M Olson, Sarah Leary, Jason Cain, Lenka Krskova, Josef Zamecnik, Cynthia E Hawkins, Uri Tabori, Annie Huang, Ute Bartels, Paul A Northcott, Michael D Taylor, Stephen Yip, Jordan R Hansford, Eric Bouffet, Vijay Ramaswamy
Over the past decade, wingless-activated (WNT) medulloblastoma has been identified as a candidate for therapy de-escalation based on excellent survival; however, a paucity of relapses has precluded additional analyses of markers of relapse. To address this gap in knowledge, an international cohort of 93 molecularly confirmed WNT MB was assembled, where 5-year progression-free survival is 0.84 (95%, 0.763-0.925) with 15 relapsed individuals identified. Maintenance chemotherapy is identified as a strong predictor of relapse, with individuals receiving high doses of cyclophosphamide or ifosphamide having only one very late molecularly confirmed relapse (p = 0...
June 23, 2020: Cell reports medicine
#31
JOURNAL ARTICLE
Luca Martinelli, Athanassios Adamopoulos, Patrik Johansson, Paul T Wan, Jenny Gunnarsson, Hongwei Guo, Helen Boyd, Noam Zelcer, Titia K Sixma
Hepatic abundance of the Low-Density lipoprotein receptor (LDLR) is a critical determinant of circulating plasma LDL-cholesterol levels and hence development of coronary artery disease. The sterol-responsive E3 ubiquitin ligase Inducible Degrader of the LDLR (IDOL) specifically promotes ubiquitination and subsequent lysosomal degradation of the LDLR and thus controls cellular LDL uptake. IDOL contains an extended N-terminal FERM (F for 4.1 protein, E for ezrin, R for radixin and M for moesin) domain, responsible for substrate recognition and plasma-membrane association, and a second C-terminal RING domain, responsible for the E3 ligase activity and homo-dimerization...
July 29, 2020: Journal of Biological Chemistry
#32
JOURNAL ARTICLE
Adriana Fonseca, Samina Afzal, Lynette Bowes, Bruce Crooks, Valerie Larouche, Nada Jabado, Sebastien Perreault, Donna L Johnston, Shayna Zelcer, Adam Fleming, Katrin Scheinemann, Mariana Silva, Magimairajan Issai Vanan, Chris Mpofu, Beverly Wilson, David D Eisenstat, Lucie Lafay-Cousin, Juliette Hukin, Cynthia Hawkins, Ute Bartels, Eric Bouffet
BACKGROUND: Diffuse intrinsic pontine gliomas (DIPG) are midline gliomas that arise from the pons and the majority are lethal within a few months after diagnosis. Due to the lack of histological diagnosis the epidemiology of DIPG is not completely understood. The aim of this report is to provide population-based data to characterize the descriptive epidemiology of this condition in Canadian children. PATIENTS AND METHODS: A national retrospective study of children and adolescents diagnosed with DIPG between 2000 and 2010 was undertaken...
August 2020: Journal of Neuro-oncology
#33
REVIEW
George Michaiel, Douglas Strother, Nicholas Gottardo, Ute Bartels, Hallie Coltin, Juliette Hukin, Beverly Wilson, Shayna Zelcer, Jordan R Hansford, Timothy Hassall, Mohamed S AbdelBaki, Kristina A Cole, Lindsey Hoffman, Natasha P Smiley, Amy Smith, Anna Vinitsky, Nicholas A Vitanza, Avery Wright, Kee K Yeo, Lionel M L Chow, Magimairajan I Vanan, Girish Dhall, Eric Bouffet, Lucie Lafay-Cousin
PURPOSE: Intracranial growing teratoma syndrome (iGTS) is a rare phenomenon of paradoxical growth of a germ cell tumor (GCT) during treatment despite normalization of tumor markers. We sought to evaluate the frequency, clinical characteristics and outcome of iGTS in Western countries. METHODS: Pediatric patients from 22 North American and Australian institutions diagnosed with iGTS between 2000 and 2017 were retrospectively evaluated. RESULTS: From a total of 777 cases of central nervous system (CNS) GCT, 39 cases of iGTS were identified for an overall frequency of 5%...
May 2020: Journal of Neuro-oncology
#34
JOURNAL ARTICLE
E Danielle Sims, William J Jennings, Brianna Empringham, Adam Fleming, Carol Portwine, Donna L Johnston, Shayna M Zelcer, Shahrad Rod Rassekh, Sarah Burrow, Lehana Thabane, M Constantine Samaan
Survivors of Childhood Brain Tumors (SCBT) are at a higher risk of developing cardiovascular disease and type 2 diabetes compared to the general population. Adiposity is an important risk factor for the development of these outcomes, and identifying biomarkers of adiposity may help the stratification of survivors based on their cardiovascular risk or allow for early screening and interventions to improve cardiometabolic outcomes. Leptin is an adipokine that positively correlates with the adipose mass in the general population and is a predictor of adverse cardiometabolic outcomes, yet its association with adiposity in SCBT has not been studied...
March 13, 2020: Scientific Reports
#35
JOURNAL ARTICLE
Anke Loregger, Matthijs Raaben, Joppe Nieuwenhuis, Josephine M E Tan, Lucas T Jae, Lisa G van den Hengel, Sebastian Hendrix, Marlene van den Berg, Saskia Scheij, Ji-Ying Song, Ivo J Huijbers, Lona J Kroese, Roelof Ottenhoff, Michel van Weeghel, Bart van de Sluis, Thijn Brummelkamp, Noam Zelcer
The sterol-regulatory element binding proteins (SREBP) are central transcriptional regulators of lipid metabolism. Using haploid genetic screens we identify the SREBP Regulating Gene (SPRING/C12ORF49) as a determinant of the SREBP pathway. SPRING is a glycosylated Golgi-resident membrane protein and its ablation in Hap1 cells, Hepa1-6 hepatoma cells, and primary murine hepatocytes reduces SREBP signaling. In mice, Spring deletion is embryonic lethal yet silencing of hepatic Spring expression also attenuates the SREBP response...
February 28, 2020: Nature Communications
#36
JOURNAL ARTICLE
Jeroen F J Bogie, Elien Grajchen, Elien Wouters, Aida Garcia Corrales, Tess Dierckx, Sam Vanherle, Jo Mailleux, Pascal Gervois, Esther Wolfs, Jonas Dehairs, Jana Van Broeckhoven, Andrew P Bowman, Ivo Lambrichts, Jan-Åke Gustafsson, Alan T Remaley, Monique Mulder, Johannes V Swinnen, Mansour Haidar, Shane R Ellis, James M Ntambi, Noam Zelcer, Jerome J A Hendriks
Failure of remyelination underlies the progressive nature of demyelinating diseases such as multiple sclerosis. Macrophages and microglia are crucially involved in the formation and repair of demyelinated lesions. Here we show that myelin uptake temporarily skewed these phagocytes toward a disease-resolving phenotype, while sustained intracellular accumulation of myelin induced a lesion-promoting phenotype. This phenotypic shift was controlled by stearoyl-CoA desaturase-1 (SCD1), an enzyme responsible for the desaturation of saturated fatty acids...
May 4, 2020: Journal of Experimental Medicine
#37
JOURNAL ARTICLE
Antwi-Boasiako Oteng, Anke Loregger, Michel van Weeghel, Noam Zelcer, Sander Kersten
SCOPE: Consumption of industrial trans fatty acids unfavourably alters plasma cholesterol and has been linked to NAFLD. However, the mechanisms underlying these deleterious effects of trans fatty acids are unclear. Here, we aim to investigate the molecular mechanisms of action of industrial trans fatty acids. METHODS & RESULTS: Hepa1-6 hepatoma cells were incubated with elaidate, oleate, or palmitate. C57Bl/6 mice were fed diets rich in trans-unsaturated, cis-unsaturated or saturated fatty acids...
July 21, 2019: Molecular Nutrition & Food Research
#38
MULTICENTER STUDY
Derek S Tsang, Carol Oliveira, Eric Bouffet, Cynthia Hawkins, Vijay Ramaswamy, Ryan Yee, Uri Tabori, Ute Bartels, Annie Huang, Barbara-Ann Millar, Bruce Crooks, Lynette Bowes, Shayna Zelcer, Normand Laperriere
BACKGROUND: There are very few studies about the role of repeat irradiation (RT2) for children with recurrent supratentorial high-grade glioma (HGG). It was the aim of this study to assess the effectiveness and safety of RT2 in this population. PROCEDURE: This was a retrospective cohort study of 40 children age 18 years and under with recurrent supratentorial HGG who had received at least one course of RT. In-field reirradiation volumes included focal or whole brain RT, with doses ranging from 30 to 54 Gy...
September 2019: Pediatric Blood & Cancer
#39
JOURNAL ARTICLE
Marjolein A W van den Boogert, Lars E Larsen, Lubna Ali, Sacha D Kuil, Patrick L W Chong, Anke Loregger, Jeffrey Kroon, Johan G Schnitzler, Alinda W M Schimmel, Jorge Peter, Johannes H M Levels, Gerry Steenbergen, Eva Morava, Geesje M Dallinga-Thie, Ron A Wevers, Jan Albert Kuivenhoven, Nicholas J Hand, Noam Zelcer, Daniel J Rader, Erik S G Stroes, Dirk J Lefeber, Adriaan G Holleboom
BACKGROUND: The importance of protein glycosylation in regulating lipid metabolism is increasingly becoming apparent. We set out to further investigate this by studying patients with type I congenital disorders of glycosylation (CDG-I) with defective N-glycosylation. METHODS: We studied 29 patients of the two most prevalent types of CDG-I: ALG6- and PMM2-CDG, and 23 first- and second-degree relatives with a heterozygote mutation and measured plasma cholesterol levels...
May 23, 2019: Circulation
#40
JOURNAL ARTICLE
Nienke M van Loon, Dan Lindholm, Noam Zelcer
PURPOSE OF REVIEW: The RING E3 ubiquitin ligase inducible degrader of the LDL receptor (IDOL, also known as MYLIP) promotes ubiquitylation and subsequent lysosomal degradation of the LDL receptor (LDLR), thus acting to limit uptake of lipoprotein-derived cholesterol into cells. Next to the LDLR, IDOL also promotes degradation of two related receptors, the very LDL receptor (VLDLR) and apolipoprotein E receptor 2 (APOER2), which have important signaling functions in the brain. We review here the emerging role of IDOL in lipoprotein and energy metabolism, neurodegenerative diseases, and the potential for therapeutic targeting of IDOL...
March 20, 2019: Current Opinion in Lipidology
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
