Publications Translational Medicine TRIM

Publications listed by year

Tirzepatide reduces alcohol drinking and relapse-like behaviours in rodents

Christian E. Edvardsson, Louise Adermark, Sam Gottlieb, Safana Alfreji, Thaynnam A. Emous, Yomna Gouda, Annika Thorsell, Milika Vujičić, Cajsa Aranäs, Anna Benrick, Ingrid Wernstedt Asterholm, Marcelo F. Lopez, Howard C. Becker, Elisabet Jerlhag

eBioMedicine

2026. Article. https://doi.org/10.1016/j.ebiom.2025.106119 Open Access

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T. Achleitner, Susann Badmann, Melanie Brugger, Theresa Brunet, Gisèle Bonne, Marta Codina, Laura Ebner, Peyman Eshraghi, Katharina Eyring, Ahmad Shah Farhat et al.

Brain

2026. Article. https://doi.org/10.1093/brain/awaf227

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

Hormos Salimi Dafsari, Homa Tajsharghi, Heinz Jungbluth

Annals of Neurology

2025. Article. https://doi.org/10.1002/ana.78013 Open Access

Unraveling the role of early coeliac disease diagnosis in the risk of developing immune-mediated renal diseases

Francesco De Luca, Staffan Nilsson, Katarina Truvé, Hans-Georg Kuhn, Katarina Ejeskär, Börje Haraldsson, Åsa Torinsson Naluai

BMC Gastroenterology

2025. Article. https://doi.org/10.1186/s12876-025-03705-5 Open Access

A clinical and genotype-phenotype analysis of MACF1 variants

Jordy Dekker, Homa Tajsharghi, Grazia M. S. Mancini

American Journal of Human Genetics

2025. Article. https://doi.org/10.1016/j.ajhg.2025.08.010

Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort

Sara H. El-Dessouky, Wessam E. Sharaf-Eldin, Mona M. Aboulghar, Hatem A. Mousa, Maha S. Zaki, Reza Maroofian, Sameh M. Senousy, Maha M. Eid, Hassan M. Gaafar, Alaa Ebrashy, Ahmed Z. Shikhah, Ahmed N. Abdelfattah, Ahmed Ezz-Elarab, Mohamed I. Ateya, Adel Hosny et al.

Clinical Genetics

2025. Article. https://doi.org/10.1111/cge.14712

Dehydration-induced AVP stimulates glucagon release and ketogenesis

Thomas G. Hill, Linford J. B. Briant, Angela Kim, Yanling Wu, Patrik Rorsman, Ingrid Wernstedt Asterholm, Anna Benrick

American Journal of Physiology. Endocrinology and Metabolism

2025. Article. https://doi.org/10.1152/ajpendo.00505.2024 Open Access

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

Rauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, Askhat Mukushev, Akbota Zharylkassyn, Chitra Prasad, Ehsan Ghayoor Karimiani, Javeria Raza Alvi, Dmitriy Niyazov, Ahmad Alahmad, Meisam Babaei, Homa Tajsharghi, Buthaina Albash, Ahmad Alaqeel, Majida Charif et al.

Brain Communications

2025. Article. https://doi.org/10.1093/braincomms/fcae453 Open Access

Opioid Detection Using Smartphone-Based Eye-Scanning

Kiki W. K. Kuijpers, Karl Andersson, Albert Dahan, Markku D. Hämäläinen, Monique van Velzen

Sensors

2025. Article. https://doi.org/10.3390/s25175467 Open Access

Detecting benzodiazepine use through induced eye convergence inability with a smartphone app: a proof-of-concept study

Kiki W. K. Kuijpers, Markku D. Hämäläinen, Andreas Zetterström, Maria Winkvist, Marieke Niesters, Monique van Velzen, Fred Nyberg, Albert Dahan, Karl Andersson

Frontiers in Digital Health

2025. Article. https://doi.org/10.3389/fdgth.2025.1584716 Open Access

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries

Edoardo Malfatti, Alexandru Caramizaru, Hane Lee, JiHye Kim, Hussein Shoaito, Alessandra Pennisi, Sarah Souvannanorath, François‐Jérôme Authier, Andreea Dumitrescu, Nagia Fahmy, Rosa Elena Escobar‐Cedillo, Antonio Miranda‐Duarte, Alexandra Berenice Luna‐Angulo, Sonia Nouioua, Ouissem Benchaabi et al.

Clinical Genetics

2025. Article. https://doi.org/10.1111/cge.14736 Open Access

DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders

Maryam Namdari, Behnaz Ansari, Keivan Basiri, Elham Sadat Azimi, Majid Hosseinzadeh, Amir Bahreini, Narges Nouri, Maryam Sedghi, Shirin Fattahpur, Mahsa M. Amoli, Homa Tajsharghi

Molecular Genetics & Genomic Medicine

2025. Article. https://doi.org/10.1002/mgg3.70163 Open Access

On the management of definitions in fast-paced research – A systematic collection of Uncertainty definitions in Computer Science

Nemi Pelgrom, Mats Walldén, Karl Andersson

SAIS 2025: Swedish AI Society Workshop 2025: Proceedings of Swedish AI Society Workshop 2025 (SAIS 2025), Halmstad, Sweden, 16-17 June 2025

2025. Conference paper. Open Access

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Lettie E. Rawlins, Homa Tajsharghi, Andrew H. Crosby

Genetics in Medicine

2025. Article. https://doi.org/10.1016/j.gim.2024.101278 Open Access

Maternal Adiponectin Decreases Placenta Nutrient Transport in Mice

Manisha Samad, Benjamin Ulfenborg, Sahar Soleimani Sani, Marco Bauzá Thorbrügge, Man Mohan Shrestha, Claes Ohlsson, Manuel Maliqueo, Elisabet Stener‐Victorin, Ingrid Wernstedt Asterholm, Anna Benrick

The FASEB Journal

2025. Article. https://doi.org/10.1096/fj.202403251rr Open Access

Increased MLH1, MGMT, and p16INK4a methylation levels in colon mucosa potentially useful as early risk marker of colon cancer

Yvonne Wettergren, Peter Rolny, Helena Lindegren, Elisabeth Odin, Victoria Rotter Sopasakis, Simon Keane, Katarina Ejeskär

Molecular & Cellular Oncology

2025. Article. https://doi.org/10.1080/23723556.2025.2503069 Open Access

Adiponectin stimulates Sca1⁺CD34⁻-adipocyte precursor cells associated with hyperplastic expansion and beiging of brown and white adipose tissue

Marco Bauzá-Thorbrügge, Milica Vujičić, Belén Chanclón, Vilborg Palsdottir, Nicolas J. Pillon, Anna Benrick, Ingrid Wernstedt Asterholm

Metabolism

2024. Article. https://doi.org/10.1016/j.metabol.2023.155716 Open Access

Inferring disease course from differential exon usage in the wide titinopathy spectrum

Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F. Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera De Benito et al.

Annals of Clinical and Translational Neurology

2024. Article. https://doi.org/10.1002/acn3.52189 Open Access

Hur kan vi skapa utrymme för högskolepedagogiskt utvecklingsarbete?: Rapport från rundabordssamtal på NU2024-konferensen, Umeå

Irene Eriksson, Annie Jonsson, Kajsa Nalin, Linda Handlin

2024. Report.

Effects of weight loss intervention on anxiety, depression and quality of life in women with severe obesity and polycystic ovary syndrome

Josefin Kataoka, Marie Olsson, Eva Lindgren, Ingrid Larsson, Johanna Schmidt, Anna Benrick, Elisabet Stener-Victorin

Scientific Reports

2024. Article. https://doi.org/10.1038/s41598-024-63166-w Open Access

Neoadjuvant FOLFIRINOX versus upfront surgery for resectable pancreatic head cancer (NORPACT-1): a multicentre, randomised, phase 2 trial

Knut Jørgen Labori, Svein Olav Bratlie, Bodil Andersson, Jon-Helge Angelsen, Christina Biörserud, Bergthor Björnsson, Erling Audun Bringeland, Nils Elander, Herish Garresori, Jon Erik Grønbech, Johan Haux, Oskar Hemmingsson, Maria Gustafsson Liljefors, Tor Åge Myklebust, Linn Såve Nymo et al.

The Lancet Gastroenterology & Hepatology

2024. Article. https://doi.org/10.1016/s2468-1253(23)00405-3

The Co-Localization of NLRP3 and ASC Specks Does Not Automatically Entail NLRP3 Inflammasome Functionality in PDAC Cell Lines

Heléne Lindholm, Matthew Herring, Maria Faresjö, Johan Haux, Ferenc Szekeres, Katarina Ejeskär

International Journal of Translational Medicine

2024. Article. https://doi.org/10.3390/ijtm4020013 Open Access

Dissecting the Impact of Maternal Androgen Exposure on Developmental Programming through Targeting the Androgen Receptor

Haojiang Lu, Hong Jiang, Congru Li, Emilie Derisoud, Allan Zhao, Gustaw Eriksson, Eva Lindgren, Han‐Pin Pui, Sanjiv Risal, Yu Pei, Theresa Maxian, Claes Ohlsson, Anna Benrick, Sandra Haider, Elisabet Stener‐Victorin et al.

Advanced Science

2024. Article. https://doi.org/10.1002/advs.202309429 Open Access

MDMA modulates human sensorimotor cortical pathways during gentle touch

Hanna Molla, Giovanni Novembre, Anya Bershad, Linda Handlin, Irene Perini, Harriet de Wit, India Morrison

Imaging Neuroscience

2024. Article. https://doi.org/10.1162/imag_a_00316 Open Access

Influence of Interactive Behaviors Induced by a Therapy Dog and Her Handler on the Physiology of Residents in Nursing Homes: An Exploratory Study

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

Anthrozoos

2024. Article. https://doi.org/10.1080/08927936.2023.2280374 Open Access

Response to the Letter regarding the EBIOM-D-23-04056: “CPAP may promote an endothelial inflammatory milieu in sleep apnoea after coronary revascularization”

Yuksel Peker, Yeliz Celik, Afrouz Behboudi, Susan Redline, Daniel J. Gottlieb, Sanja Jelic

EBioMedicine

2024. Article, letter. https://doi.org/10.1016/j.ebiom.2024.105348 Open Access

CPAP may promote an endothelial inflammatory milieu in sleep apnoea after coronary revascularization

Yuksel Peker, Yeliz Celik, Afrouz Behboudi, Susan Redline, Jing Lyu, Ying Wei, Daniel J. Gottlieb, Sanja Jelic

EBioMedicine

2024. Article. https://doi.org/10.1016/j.ebiom.2024.105015 Open Access

Elevated circulating adiponectin levels do not prevent anxiety-like behavior in a PCOS-like mouse model

Manisha Samad, Joakim Ek, Stina Börchers, Jean-Philippe Krieger, Elisabet Stener-Victorin, Karolina P. Skibicka, Ingrid Wernstedt Asterholm, Anna Benrick

Scientific Reports

2024. Article. https://doi.org/10.1038/s41598-023-50503-8 Open Access

Proteomic analysis shows decreased Type I fibers and ectopic fat accumulation in skeletal muscle from women with PCOS

Elisabet Stener-Victorin, Gustaw Eriksson, Man Mohan Shrestha, Valentina Rodriguez Paris, Haojiang Lu, Jasmine Banks, Manisha Samad, Charlène Perian, Baptiste Jude, Viktor Engman, Roberto Boi, Emma Nilsson, Charlotte Ling, Jenny Nyström, Ingrid Wernstedt Asterholm et al.

eLife

2024. Article. https://doi.org/10.7554/eLife.87592 Open Access

NRF2 is essential for adaptative browning of white adipocytes

Marco Bauzá-Thorbrügge, Eduard Peris, Shabnam Zamani, Peter Micallef, Alexandra Paul, Stefano Bartesaghi, Anna Benrick, Ingrid Wernstedt Asterholm

Redox Biology

2023. Article. https://doi.org/10.1016/j.redox.2023.102951 Open Access

Impact of Continuous Positive Airway Pressure on Serum Angiopoietin-2 Following Coronary Revascularization in Patients With Obstructive Sleep Apnea: The RICCADSA Study

Y. Celik, Afrouz Behboudi, Yüksel Peker, S. S. Redline, S. Jelic, D. J. Gottlieb

American Journal of Respiratory and Critical Care Medicine

2023. Article, meeting abstract. https://doi.org/10.1164/ajrccm-conference.2023.207.1_MeetingAbstracts.A6268

Association of TNF-α (-308G/A) Gene Polymorphism with Changes in Circulating TNF-α Levels in Response to CPAP Treatment in Adults with Coronary Artery Disease and Obstructive Sleep Apnea

Yeliz Celik, Yüksel Peker, Tülay Yucel-Lindberg, Tilia Thelander, Afrouz Behboudi

Journal of Clinical Medicine

2023. Article. https://doi.org/10.3390/jcm12165325 Open Access

Pedagogiskt mentorskap: slutrapport

Irene Eriksson, Linda Handlin, Kajsa Nalin

2023. Report. Open Access

Human endogenous oxytocin and its neural correlates show adaptive responses to social touch based on recent social context

Linda Handlin, Giovanni Novembre, Heléne Lindholm, Robin Kämpe, Elisabeth Paul, India Morrison

eLIFE

2023. Article. https://doi.org/10.7554/elife.81197 Open Access

Repurposing digitoxin in the treatment of pancreatic ductal adenocarcinoma: genotypic and phenotypic features as biomarkers for digitoxin sensitivity in vitro

Heléne Lindholm

2023. Doctoral thesis. Open Access

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Homa Tajsharghi, Katarina Ejeskär, Mariasavina Severino

Brain

2023. Article. https://doi.org/10.1093/brain/awad257 Open Access

Association of TNF-α (-308 G/A) Gene Polymorphism With the Changes in Circulating TNF-α Levels Over 12 Months in Response to CPAP Treatment in the RICCADSA Cohort

Yüksel Peker, Y. Celik, T. Yucel-Lindberg, Afrouz Behboudi

American Journal of Respiratory and Critical Care Medicine

2023. Article, meeting abstract. https://doi.org/10.1164/ajrccm-conference.2023.207.1_MeetingAbstracts.A2714

Transgenerational transmission of reproductive and metabolic dysfunction in the male progeny of polycystic ovary syndrome

Sanjiv Risal, Congru Li, Qing Luo, Romina Fornes, Haojiang Lu, Gustaw Eriksson, Maria Manti, Claes Ohlsson, Eva Lindgren, Nicolas Crisosto, Manuel Maliqueo, Barbara Echiburú, Sergio Recabarren, Teresa Sir Petermann, Anna Benrick et al.

Cell Reports Medicine

2023. Article. https://doi.org/10.1016/j.xcrm.2023.101035 Open Access

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Afshin Saffari, Homa Tajsharghi, Reza Maroofian

Brain

2023. Article. https://doi.org/10.1093/brain/awad039 Open Access

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Daniel G. Calame, Homa Tajsharghi, James R. Lupski

Annals of Neurology

2022. Article. https://doi.org/10.1002/ana.26381

Novel TPR::ROS1 Fusion Gene Activates MAPK, PI3K and JAK/STAT Signaling in an Infant-type Pediatric Glioma

Lily Deland, Simon Keane, Thomas O. Bontell, Henrik Fagman, Helene Sjögren, Anders E. Lind, Helena Carén, Magnus Tisell, Jonas A. Nilsson, Katarina Ejeskär, Magnus Sabel, Frida Abel

Cancer Genomics & Proteomics

2022. Article. https://doi.org/10.21873/cgp.20354 Open Access

Bioinformatics analysis of miRNAs in the neuroblastoma 11q-deleted region reveals a role of miR-548l in both 11q-deleted and MYCN amplified tumour cells

Sanja Jurcevic, Simon Keane, Emmy Borgmästars, Zelmina Lubovac-Pilav, Katarina Ejeskär

Scientific Reports

2022. Article. https://doi.org/10.1038/s41598-022-24140-6 Open Access

DLG2 impairs dsDNA break repair and maintains genome integrity in neuroblastoma

Simon Keane, Hendrik Arnold de Weerd, Katarina Ejeskär

DNA Repair

2022. Article. https://doi.org/10.1016/j.dnarep.2022.103302 Open Access

Inflammation suppresses DLG2 expression decreasing inflammasome formation

Simon Keane, Matthew Herring, Peter Rolny, Yvonne Wettergren, Katarina Ejeskär

Journal of Cancer Research and Clinical Oncology

2022. Article. https://doi.org/10.1007/s00432-022-04029-7 Open Access

Digitoxin Affects Metabolism, ROS Production and Proliferation in Pancreatic Cancer Cells Differently Depending on the Cell Phenotype

Heléne Lindholm, Katarina Ejeskär, Ferenc Szekeres

International Journal of Molecular Sciences

2022. Article. https://doi.org/10.3390/ijms23158237 Open Access

Na+/K+‑ATPase subunit α3 expression is associated with the efficacy of digitoxin treatment in pancreatic cancer cells

Heléne Lindholm, Katarina Ejeskär, Ferenc Szekeres

Medicine International

2022. Article. https://doi.org/10.3892/mi.2022.52 Open Access

Diphenyleneiodonium efficiently inhibits the characteristics of a cancer stem cell model derived from induced pluripotent stem cells

Sadia Monzur, Ghmkin Hassan, Said M. Afify, Kazuki Kumon, Hager Mansour, Hend M. Nawara, Mona Sheta, Hagar A. Abu Quora, Maram H. Zahra, Yanning Xu, Xiaoyin Fu, Akimasa Seno, Per Wikström, Ferenc L. M. Szekeres, Masaharu Seno

Cell Biochemistry and Function

2022. Article. https://doi.org/10.1002/cbf.3696

Variable skeletal phenotypes associated with biallelic variants in PRKG2

Alistair T. Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, Matteo P. Ferla, Mehran B. Toosi, Alistair D. Calder, Ehsan G. Karimiani, Mohammad Doosti, Andrew Wainwright, Paul Wordsworth, Kathryn Bailey, Katarina Ejeskär, Tracy Lester, Reza Maroofian, Karen E. Heath et al.

Journal of Medical Genetics

2022. Article. https://doi.org/10.1136/jmedgenet-2021-108027 Open Access

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Erik Rosenhahn, Thomas J. O'Brien, Maha S. Zaki, Ina Sorge, Dagmar Wieczorek, Kevin Rostasy, Antonio Vitobello, Sophie Nambot, Fowsan S. Alkuraya, Mais O. Hashem, Amal Alhashem, Brahim Tabarki, Abdullah S. Alamri, Ayat H. Al Safar, Dalal K. Bubshait et al.

American Journal of Human Genetics

2022. Article. https://doi.org/10.1016/j.ajhg.2022.06.008 Open Access

Adiponectin Deficiency Alters Placenta Function but Does Not Affect Fetal Growth in Mice

Man Mohan Shrestha, Sanne Wermelin, Elisabet Stener-Victorin, Ingrid W. Asterholm, Anna Benrick

International Journal of Molecular Sciences

2022. Article. https://doi.org/10.3390/ijms23094939 Open Access

Sensory Stimulation and Oxytocin: Their Roles in Social Interaction and Health Promotion

Kerstin Uvnäs-Moberg, Henri Julius, Linda Handlin, Maria Petersson

Frontiers in Psychology

2022. Article, editorial. https://doi.org/10.3389/fpsyg.2022.929741 Open Access

Association of TNF-alpha (-308G/A) Gene Polymorphism with Circulating TNF-alpha Levels and Excessive Daytime Sleepiness in Adults with Coronary Artery Disease and Concomitant Obstructive Sleep Apnea

Afrouz Behboudi, Tilia Thelander, Duygu Yazici, Yeliz Celik, Tülay Yucel-Lindberg, Erik Thunström, Yüksel Peker

Journal of Clinical Medicine

2021. Article. https://doi.org/10.3390/jcm10153413 Open Access

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 Díaz 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 Díaz 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

Manipulations of Oral Medications in Paediatric Neurology and Oncology Care at a Swedish University Hospital: Health Professionals' Attitudes and Sources of Information

Rania Kader, Gunnar Liminga, Gustaf Ljungman, Mattias Paulsson

Pharmaceutics

2021. Article. https://doi.org/10.3390/pharmaceutics13101676 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

Association of TNF-α (-308G/A) Gene Polymorphism with Circulating TNF-α Levels and Excessive Daytime Sleepiness in Adults with Coronary Artery Disease and Concomitant Obstructive Sleep Apnea

Yüksel Peker, Tilia Thelander, D. Yazici, Y. Celik, T. Yucel-Lindberg, E. Thunström, Afrouz Behboudi

American Journal of Respiratory and Critical Care Medicine

2021. Article, meeting abstract. https://doi.org/10.1164/ajrccm-conference.2021.203.1_MeetingAbstracts.A4713

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

A small molecule inhibitor of Nox2 and Nox4 improves contractile function after ischemia–reperfusion in the mouse heart

Ferenc L. M. Szekeres, Erik Walum, Per Wikström, Anders Arner

Scientific Reports

2021. Article. https://doi.org/10.1038/s41598-021-91575-8 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 Open Access

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 Open Access

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

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 MYO1C Stimulates 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

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

Analyses of protein expression of PI 3-kinase/AKT signaling in response to altered expression of motor protein MYO1C

Kittichate Visuttijai, Katarina Ejeskär, Afrouz Behboudi

Cancer Research

2015. Article, meeting abstract. https://doi.org/10.1158/1538-7445.am2015-2166 Open Access

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

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