Publications Translational Medicine TRIM

Publications listed by year

VPS39-deficiency observed in type 2 diabetes impairs muscle stem cell differentiation via altered autophagy and epigenetics

Cajsa Davegårdh, Johanna Säll, Anna Benrick, Christa Broholm, Petr Volkov, Alexander Perfilyev, Tora Ida Henriksen, Yanling Wu, Line Hjort, Charlotte Brøns, Ola Hansson, Maria Pedersen, Jens U. Würthner, Klaus Pfeffer, Emma Nilsson et al.

Nature Communications

2021. Article. https://doi.org/10.1038/s41467-021-22068-5 Open Access

Discovery of a rare GKAP1-NTRK2 fusion in a pediatric low-grade glioma, leading to targeted treatment with TRK-inhibitor larotrectinib

Lily Deland, Simon Keane, Thomas Olsson Bontell, Helene Sjögren, Henrik Fagman, Ingrid Øra, Esther De La Cuesta, Magnus Tisell, Jonas A. Nilsson, Katarina Ejeskär, Magnus Sabel, Frida Abel

Cancer Biology & Therapy

2021. Article. https://doi.org/10.1080/15384047.2021.1899573 Open Access

Differential expression of protein disulfide-isomerase A3 isoforms, PDIA3 and PDIA3N, in human prostate cancer cell lines representing different stages of prostate cancer

Maria Araceli Diaz Cruz, Sandra Karlsson, Ferenc Szekeres, Maria Faresjö, Dan Lund, Dennis Larsson

Molecular Biology Reports

2021. Article. https://doi.org/10.1007/s11033-021-06277-1 Open Access

Cis-regulatory elements in conserved non-coding sequences of nuclear receptor genes indicate for crosstalk between endocrine systems

Maria Araceli Diaz Cruz, Dan Lund, Ferenc Szekeres, Sandra Karlsson, Maria Faresjö, Dennis Larsson

Open Medicine (Poland)

2021. Article. https://doi.org/10.1515/med-2021-0264 Open Access

The loss of DLG2 isoform 7/8, but not isoform 2, is critical in advanced staged neuroblastoma

Simon Keane, Tommy Martinsson, Per Kogner, Katarina Ejeskär

Cancer Cell International

2021. Article. https://doi.org/10.1186/s12935-021-01851-w Open Access

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Daniel Peter Sayer Osborn, Leila Emrahi, Joshua Clayton, Mehrnoush Toufan Tabrizi, Alex Yui Bong Wan, Reza Maroofian, Mohammad Yazdchi, Michael Leon Enrique Garcia, Hamid Galehdari, Camila Hesse, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, Hayley Goullée, Nigel Laing et al.

Genetics in Medicine

2021. Article. https://doi.org/10.1038/s41436-020-01028-2 Open Access

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Alistair T. Pagnamenta, Homa Tajsharghi, Henry Houlden

Brain

2021. Article. https://doi.org/10.1093/brain/awaa420 Open Access

Prenatal androgen exposure causes a sexually dimorphic transgenerational increase in offspring susceptibility to anxiety disorders

Sanjiv Risal, Maria Manti, Haojiang Lu, Romina Fornes, Henrik Larsson, Anna Benrick, Quiaolin Deng, Carolyn E. Cesta, Mina A. Rosenqvist, Elisabet Stener-Victorin

Translational Psychiatry

2021. Article. https://doi.org/10.1038/s41398-020-01183-9 Open Access

Maternal adiponectin prevents visceral adiposity and adipocyte hypertrophy in prenatal androgenized female mice

Yanling Wu, Belén Chanclón, Peter Micallef, Elisabet Stener-Victorin, Ingrid Wernstedt Asterholm, Anna Benrick

The FASEB Journal

2021. Article. https://doi.org/10.1096/fj.202002212R Open Access

Electroacupuncture mimics exercise-induced changes in skeletal muscle gene expression in women with polycystic ovary syndrome

Anna Benrick, Nicolas J. Pillon, Emma Nilsson, Eva Lindgren, Anna Krook, Charlotte Ling, Elisabet Stener-Victorin

Journal of Clinical Endocrinology and Metabolism

2020. Article. https://doi.org/10.1210/clinem/dgaa165 Open Access

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tuysuz, Sandra Roselli, Maryam Najafi, Dilek Uludag Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien et al.

Brain

2020. Article. https://doi.org/10.1093/brain/awaa085 Open Access

Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase

Martin Dahl-Halvarsson, Montse Olive, Malgorzata Pokrzywa, Michaela Norum, Katarina Ejeskär, Homa Tajsharghi

Disease Models and Mechanisms

2020. Article. https://doi.org/10.1242/dmm.047886 Open Access

Low DLG2 gene expression, a link between 11q-deleted and MYCN-amplified neuroblastoma, causes forced cell cycle progression, and predicts poor patient survival

Simon Keane, Sophie Améen, Angelica Lindlöf, Katarina Ejeskär

Cell Communication and Signaling

2020. Article. https://doi.org/10.1186/s12964-020-00553-6 Open Access

Genetic risk-factors for anxiety in healthy individuals: polymorphisms in gene simportant for the HPA axis

Heléne Lindholm, India Morrison, Alexandra Krettek, Dan Malm, Giovanni Novembre, Linda Handlin

BMC Medical Genetics

2020. Article. https://doi.org/10.1186/s12881-020-01123-w Open Access

Maternal androgen excess induces cardiac hypertrophy and left ventricular dysfunction in female mice offspring

Maria Manti, Romina Fornes, Gianluigi Pironti, Sarah McCann Haworth, Zhuge Zhengbing, Anna Benrick, Mattias Carlström, Daniel Andersson, Elisabet Stener-Victorin

Cardiovascular Research

2020. Article. https://doi.org/10.1093/cvr/cvz180

Excess of ovarian nerve growth factor impairs embryonic development and causes reproductive and metabolic dysfunction in adult female mice

Maria Manti, Han-Pin Pui, Sonja Edström, Sanjiv Risal, Haojiang Lu, Eva Lindgren, Claes Ohlsson, Elisabet Jerlhag, Anna Benrick, Qiaolin Deng, Elisabet Stener-Victorin

The FASEB Journal

2020. Article. https://doi.org/10.1096/fj.202001060R

Skeletal Muscle Immunometabolism in Women With Polycystic Ovary Syndrome: A Meta-Analysis

Maria Manti, Elisabet Stener-Victorin, Anna Benrick

Frontiers in Physiology

2020. Article, review. https://doi.org/10.3389/fphys.2020.573505 Open Access

Interacting With a Visiting Dog Increases Fingertip Temperature in Elderly Residents of Nursing Homes

Anne Nilsson, Linda Handlin, Lena Lidfors, Maria Petersson, Kerstin Uvnäs-Moberg

Frontiers in Psychology

2020. Article. https://doi.org/10.3389/fpsyg.2020.01906 Open Access

Animal Models to Understand the Etiology and Pathophysiology of Polycystic Ovary Syndrome

Elisabet Stener-Victorin, Vasantha Padmanabhan, Kirsty A. Walters, Rebecca E. Campbell, Anna Benrick, Paolo Giacobini, Daniel A. Dumesic, David H. Abbott

Endocrine reviews

2020. Article, review. https://doi.org/10.1210/endrev/bnaa010 Open Access

MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression

Tajana Tešan Tomić, Josefin Olausson, Anna Rehammar, Lily Deland, Andreas Muth, Katarina Ejeskär, Staffan Nilsson, Erik Kristiansson, Ola Nilsson Wassén, Frida Abel

PLoS Genetics

2020. Article. https://doi.org/10.1371/journal.pgen.1008803 Open Access

Preoperative myocardial expression of E3 ubiquitin ligases in aortic stenosis patients undergoing valve replacement and their association to postoperative hypertrophy

Fábio Trindade, Francisca Saraiva, Simon Keane, Adelino Leite-Moreira, Rui Vitorino, Homa Tajsharghi, Inês Falcão-Pires

PLOS ONE

2020. Article. https://doi.org/10.1371/journal.pone.0237000 Open Access

Neuroendocrine mechanisms involved in the physiological effects caused by skin-to-skin contact - With a particular focus on the oxytocinergic system

Kerstin Uvnäs-Moberg, Linda Handlin, Maria Petersson

Infant Behavior and Development

2020. Article, review. https://doi.org/10.1016/j.infbeh.2020.101482

The Effect of Mechanical Massage and Mental Training on Heart Rate Variability and Cortisol in Swedish Employees: A Randomized Explorative Pilot Study

Willeke Van Dijk, Anja C. Huizink, Jasmin Muller, Kerstin Uvnäs-Moberg, Anette Ekström-Bergström, Linda Handlin

Frontiers In Public Health

2020. Article. https://doi.org/10.3389/fpubh.2020.00082 Open Access

Reply: Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency

Sarah Weckhuysen, Homa Tajsharghi

Brain

2020. Article, letter. https://doi.org/10.1093/brain/awaa290 Open Access

Mice exposed to maternal androgen excess and diet-induced obesity have altered phosphorylation of catechol-O-methyltransferase in the placenta and fetal liver

Romina Fornes, Maria Manti, Xiaojuan Qi, Egor Vorontsov, Carina Sihlbom, Jenny Nyström, Elisabet Jerlhag, Manuel Maliqueo, Angelica Lindén Hirschberg, Mattias Carlström, Anna Benrick, Elisabet Stener-Victorin

International Journal of Obesity

2019. Article. https://doi.org/10.1038/s41366-018-0314-8

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

Ariana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, Homa Tajsharghi, Ali-Reza Moslemi, Thomas Naert, Hong Thi Tran, Fatemeh Ahangari, Minoo Rajaei, Mojila Nasseri, Thomas Haaf, Afrooz Azad, Andrea Superti-Furga, Reza Maroofian, Siavash Ghaderi-Sohi et al.

American Journal of Human Genetics

2019. Article. https://doi.org/10.1016/j.ajhg.2019.10.013

Prenatal androgen exposure and transgenerational susceptibility to polycystic ovary syndrome

Sanjiv Risal, Yu Pei, Haojiang Lu, Maria Manti, Romina Fornes, Han-Pin Pui, Zhiyi Zhao, Julie Massart, Claes Ohlsson, Eva Lindgren, Nicolas Crisosto, Manuel Maliqueo, Barbara Echiburú, Amanda Ladrón de Guevara, Teresa Sir-Petermann et al.

Nature Medicine

2019. Article. https://doi.org/10.1038/s41591-019-0666-1

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP

Maryam Sedghi, Ali-Reza Moslemi, Macarena Cabrera-Serrano, Behnaz Ansari, Majid Ghasemi, Mojtaba Baktashian, Ali Fattahpour, Homa Tajsharghi

Brain Communications

2019. Article. https://doi.org/10.1093/braincomms/fcz011 Open Access

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study

Maryam Sedghi, Ali-Reza Moslemi, Montse Olive, Masoud Etemadifar, Behnaz Ansari, Jafar Nasiri, Leila Emrahi, Hamid-Reza Mianesaz, Nigel G. Laing, Homa Tajsharghi

Annals of Clinical and Translational Neurology

2019. Article. https://doi.org/10.1002/acn3.50912 Open Access

Origins and Impact of Psychological Traits in Polycystic Ovary Syndrome

Elisabet Stener-Victorin, Maria Manti, Romina Fornes, Sanjiv Risal, Haojiang Lu, Anna Benrick

Medical sciences

2019. Article, review. https://doi.org/10.3390/medsci7080086 Open Access

Oxytocin is a principal hormone that exerts part of its effects by active fragments

Kerstin Uvnäs-Moberg, Linda Handlin, Kathleen Kendall-Tackett, Maria Petersson

Medical Hypotheses

2019. Article. https://doi.org/10.1016/j.mehy.2019.109394 Open Access

Multivariate modelling of faecal bacterial profiles of patients with IBS predicts responsiveness to a diet low in FODMAPs

Sean M. P. Bennet, Lena Böhn, Stine Störsrud, Therese Liljebo, Lena Collin, Perjohan Lindfors, Hans Törnblom, Lena Öhman, Magnus Simrén

Gut

2018. Article. https://doi.org/10.1136/gutjnl-2016-313128

Signaling and metabolic properties of fast and slow smooth muscle types from mice

Lena Boberg, Ferenc L. M. Szekeres, Anders Arner

Pflügers Archiv

2018. Article. https://doi.org/10.1007/s00424-017-2096-6 Open Access

Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member

Martin Dahl-Halvarsson, Montse Olive, Malgorzata Pokrzywa, Katarina Ejeskär, Ruth H. Palmer, Anne Elisabeth Uv, Homa Tajsharghi

Proceedings of the National Academy of Sciences of the United States of America

2018. Article. https://doi.org/10.1073/pnas.1800727115

The Effects of a Therapy Dog on the Blood Pressure and Heart Rate of Older Residents in a Nursing Home

Linda Handlin, Anne Nilsson, Lena Lidfors, Maria Petersson, Kerstin Uvnäs-Moberg

Anthrozoos

2018. Article. https://doi.org/10.1080/08927936.2018.1505268 Open Access

Psychological distress, iron deficiency, active disease and female gender are independent risk factors for fatigue in patients with ulcerative colitis

Börje Jonefjäll, Magnus Simrén, Anders Lasson, Lena Öhman, Hans Strid

United European Gastroenterology journal

2018. Article. https://doi.org/10.1177/2050640617703868

A Single Bout of Electroacupuncture Remodels Epigenetic and Transcriptional Changes in Adipose Tissue in Polycystic Ovary Syndrome

Milana Kokosar, Anna Benrick, Alexander Perfilyev, Emma Nilsson, Thomas Källman, Claes Ohlsson, Charlotte Ling, Elisabet Stener-Victorin

Scientific Reports

2018. Article. https://doi.org/10.1038/s41598-017-17919-5 Open Access

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

Richard G. Lee, Maryam Sedghi, Mehri Salari, Anne-Marie J. Shearwood, Maike Stentenbach, Ariana Kariminejad, Hayley Goullee, Oliver Rackham, Nigel G. Laing, Homa Tajsharghi, Aleksandra Filipovska

Neurology Genetics

2018. Article. https://doi.org/10.1212/NXG.0000000000000276 Open Access

Maternal androgen excess and obesity induce sexually dimorphic anxiety-like behavior in the offspring

Maria Manti, Romina Fornes, Xiaojuan Qi, Elin Folmerz, Angelica Lindén Hirschberg, Thais de Castro Barbosa, Manuel Maliqueo, Anna Benrick, Elisabet Stener-Victorin

The FASEB Journal

2018. Article. https://doi.org/10.1096/fj.201701263RR

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

Yalda Nilipour, Shahriar Nafissi, Anton E. Tjust, Gianina Ravenscroft, Hamid Hossein-Nejad Nedai, Rhonda L. Taylor, Vahid Varasteh, Fatima Pedrosa Domellöf, Mahdi Zangi, Seyed Hassan Tonekaboni, M. Olivé, Kirsi Kiiski, L. Sagath, Mark R. Davis, Nigel G. Laing et al.

European Journal of Neurology

2018. Article. https://doi.org/10.1111/ene.13607

Transcriptional and Epigenetic Changes Influencing Skeletal Muscle Metabolism in Women With Polycystic Ovary Syndrome

Emma Nilsson, Anna Benrick, Milana Kokosar, Anna Krook, Eva Lindgren, Thomas Källman, Mihaela M. Martis, Kurt Højlund, Charlotte Ling, Elisabet Stener-Victorin

Journal of Clinical Endocrinology and Metabolism

2018. Article. https://doi.org/10.1210/jc.2018-00935

BMPR2 inhibits activin and BMP signaling via wild-type ALK2

Oddrun Elise Olsen, Meenu Sankar, Samah Elsaadi, Hanne Hella, Glenn Buene, Sagar Ramesh Darvekar, Kristine Misund, Takenobu Katagiri, Petra Knaus, Toril Holien

Journal of Cell Science

2018. Article. https://doi.org/10.1242/jcs.213512

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant

Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi

Neurology: Genetics

2018. Article. https://doi.org/10.1212/NXG.0000000000000295 Open Access

Adiponectin protects against development of metabolic disturbances in a PCOS mouse model

Anna Benrick, Belén Chanclón, Peter Micallef, Yanling Wu, Laila Hadi, John M. Shelton, Elisabet Stener-Victorin, Ingrid Wernstedt Asterholm

Proceedings of the National Academy of Sciences of the United States of America

2017. Article. https://doi.org/10.1073/pnas.1708854114

Autonomic nervous system activation mediates the increase in whole-body glucose uptake in response to electroacupuncture

Anna Benrick, Milana Kokosar, Min Hu, Martin Larsson, Manuel Maliqueo, Rodrigo Rodrigues Marcondes, Marzia Soligo, Virginia Protto, Elisabet Jerlhag, Antonina Sazonova, Carl Johan Behre, Kurt Højlund, Peter Thorén, Elisabet Stener-Victorin

The FASEB Journal

2017. Article. https://doi.org/10.1096/fj.201601381R

Hepatic deletion of p110α and p85α results in insulin resistance despite sustained IRS1-associated phosphatidylinositol kinase activity

Aditi Chaudhari, Katarina Ejeskär, Yvonne Wettergren, Ronald Kahn, Victoria Rotter Sopasakis

F1000 Research

2017. Article. https://doi.org/10.12688/f1000research.12418.2 Open Access

Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells

Martin Dahl-Halvarsson, Malgorzata Pokrzywa, Manish Rauthan, Marc Pilon, Homa Tajsharghi

PLOS ONE

2017. Article. https://doi.org/10.1371/journal.pone.0170613 Open Access

The effect of androgen excess on maternal metabolism, placental function and fetal growth in obese dams

Romina Fornes, Manuel Maliqueo, Min Hu, Laila Hadi, Juan M. Jimenez-Andrade, Kerstin Ebefors, Jenny Nyström, Fernand Labrie, Thomas Jansson, Anna Benrick, Elisabet Stener-Victorin

Scientific Reports

2017. Article. https://doi.org/10.1038/s41598-017-08559-w Open Access

Promoting health of Swedish workers by complementary methods: example of a study design of a longitudinal randomized controlled intervention study

Linda Handlin, Jasmin Muller, Anette Ekström

Medical Research Archives

2017. Article.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

Ariana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, Fariba Afroozan, Elham Keshavarz, Hayley Goullée, Mark R. Davis, Mehrshid Faraji Zonooz, Hossein Najmabadi, Nigel G. Laing, Homa Tajsharghi

Brain

2017. Article. https://doi.org/10.1093/brain/awx230

The Mucosal Antibacterial Response Profile and Fecal Microbiota Composition Are Linked to the Disease Course in Patients with Newly Diagnosed Ulcerative Colitis

Maria K. Magnusson, Hans Strid, Stefan Isaksson, Magnus Simrén, Lena Öhman

Inflammatory Bowel Diseases

2017. Article. https://doi.org/10.1097/MIB.0000000000001130

Exercise differentially affects metabolic functions and white adipose tissue in female letrozole-and dihydrotestosterone-induced mouse models of polycystic ovary syndrome

Rodrigo R. Marcondes, Manuel Maliqueo, Romina Fornes, Anna Benrick, Min Hu, Niklas Ivarsson, Mattias Carlström, Samuel W. Cushman, Karin G. Stenkula, Gustavo A. R. Maciel, Elisabet Stener-Victorin

Molecular and Cellular Endocrinology

2017. Article. https://doi.org/10.1016/j.mce.2017.03.025

Oxytocin and Cortisol Levels in Dog Owners and Their Dogs Are Associated with Behavioral Patterns: An Exploratory Study

Maria Petersson, Kerstin Uvnäs-Moberg, Anne Nilsson, Lise-Lotte Gustafsson, Eva Hydbring-Sandberg, Linda Handlin

Frontiers in Psychology

2017. Article. https://doi.org/10.3389/fpsyg.2017.01796 Open Access

Understanding the Gut Microbiota in Inflammatory and Functional Gastrointestinal Diseases

Johanna Sundin, Lena Öhman, Magnus Simrén

Psychosomatic Medicine

2017. Article, review. https://doi.org/10.1097/PSY.0000000000000470

Verification of microRNA expression in human endometrial adenocarcinoma

Sanja Jurcevic, Karin Klinga-Levan, Björn Olsson, Katarina Ejeskär

BMC Cancer

2016. Article. https://doi.org/10.1186/s12885-016-2296-z Open Access

Lowered Expression of Tumor Suppressor Candidate MYO1CStimulates Cell Proliferation, Suppresses Cell Adhesion and Activates AKT

Kittichate Visuttijai, Jennifer Pettersson, Yashar Mehrbani Azar, Iman van den Bout, Charlotte Örndal, Janusz Marcickiewicz, Staffan Nilsson, Michael Hörnquist, Björn Olsson, Katarina Ejeskär, Afrouz Behboudi

PLOS ONE

2016. Article. https://doi.org/10.1371/journal.pone.0164063 Open Access

p110 alpha Hot Spot Mutations E545K and H1047R Exert Metabolic Reprogramming Independently of p110 alpha Kinase Activity

Aditi Chaudhari, Daniel Krumlinde, Annika Lundqvist, Levent M Akyurek, Sashidhar Bandaru, Kristina Skalen, Marcus Stahlman, Jan Boren, Yvonne Wettergren, Katarina Ejeskär, Victoria Rotter Sopasakis

Molecular and Cellular Biology

2015. Article. https://doi.org/10.1128/MCB.00471-15

p110α hot spot mutations E545K and H1047R exert metabolic reprogramming independently of p110α kinase activity

Aditi Chaudhari, Daniel Krumlinde, Annika Lundqvist, Levent M. Akyürek, Sashidhar Bandaru, Kristina Skålén, Marcus Ståhlman, Jan Borén, Yvonne Wettergren, Katarina Ejeskär, Victoria Rotter Sopasakis

Molecular and Cellular Biology

2015. Article. https://doi.org/10.1128/MCB.00471-15

The unique non-catalytic C-terminus of p37delta-PI3K adds proliferative properties in vitro and in vivo

Katarina Ejeskär, Oscar Vickes, Arunakar Kuchipudi, Yvonne Wettergren, Anne Uv, Victoria Rotter Sopasakis

PLOS ONE

2015. Article. https://doi.org/10.1371/journal.pone.0127497 Open Access

Stage-dependent expression of PI3K/Akt‑pathway genes in neuroblastoma

Susanne Fransson, Frida Abel, Per Kogner, Tommy Martinsson, Katarina Ejeskär

International Journal of Oncology

2013. Article. https://doi.org/10.3892/ijo.2012.1732

High level of p37δ-mRNA relative to p110δ-mRNA in neuroblastoma tumors correlates with poor patient survival

Susanne Fransson, Katarina Ejeskär