Publications by authors named "Elisabet Einarsdottir"

58 Publications

Distinct whole-blood transcriptome profile of children with metabolic healthy overweight/obesity compared to metabolic unhealthy overweight/obesity.

Authors:
Abel Plaza-Florido Signe Altmäe Francisco J Esteban Cristina Cadenas-Sanchez Concepción M Aguilera Elisabet Einarsdottir Shintaro Katayama Kaarel Krjutškov Juha Kere Frank Zaldivar Shlomit Radom-Aizik Francisco B Ortega

Pediatr Res 2020 Nov 23. Epub 2020 Nov 23.

PROFITH "PROmoting FITness and Health Through Physical Activity" Research Group, Sport and Health University Research Institute (iMUDS), Department of Physical and Sports Education, Faculty of Sport Sciences, University of Granada, 18011, Granada, Spain.

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November 2020

Multi-omic studies on missense PLG variants in families with otitis media.

Authors:
Tori C Bootpetch Lena Hafrén Christina L Elling Erin E Baschal Ani W Manichaikul Harold S Pine Wasyl Szeremeta Melissa A Scholes Stephen P Cass Eric D Larson Kenny H Chan Rafaqat Ishaq Jeremy D Prager Rehan S Shaikh Samuel P Gubbels Ayesha Yousaf Todd M Wine Michael J Bamshad Patricia J Yoon Herman A Jenkins Deborah A Nickerson Sven-Olrik Streubel Norman R Friedman Daniel N Frank Elisabet Einarsdottir Juha Kere Saima Riazuddin Kathleen A Daly Suzanne M Leal Allen F Ryan Petri S Mattila Zubair M Ahmed Michele M Sale Tasnee Chonmaitree Regie Lyn P Santos-Cortez

Sci Rep 2020 09 14;10(1):15035. Epub 2020 Sep 14.

Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

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September 2020

Otitis media susceptibility and shifts in the head and neck microbiome due to variants.

Authors:
Daniel N Frank Arnaud P J Giese Lena Hafren Tori C Bootpetch Talitha Karisse L Yarza Matthew J Steritz Melquiadesa Pedro Patrick John Labra Kathleen A Daly Ma Leah C Tantoco Wasyl Szeremeta Maria Rina T Reyes-Quintos Niaz Ahankoob Erasmo Gonzalo D V Llanes Harold S Pine Sairah Yousaf Diana Ir Elisabet Einarsdottir Rhodieleen Anne R de la Cruz Nanette R Lee Rachelle Marie A Nonato Charles E Robertson Kimberly Mae C Ong Jose Pedrito M Magno Alessandra Nadine E Chiong Ma Carmina Espiritu-Chiong Maria Luz San Agustin Teresa Luisa G Cruz Generoso T Abes Michael J Bamshad Eva Maria Cutiongco-de la Paz Juha Kere Deborah A Nickerson Karen L Mohlke Saima Riazuddin Abner Chan Petri S Mattila Suzanne M Leal Allen F Ryan Zubair M Ahmed Tasnee Chonmaitree Michele M Sale Charlotte M Chiong Regie Lyn P Santos-Cortez

J Med Genet 2020 Jul 24. Epub 2020 Jul 24.

Department of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA

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July 2020

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

Authors:
Andrea Bieder Elisabet Einarsdottir Hans Matsson Harriet E Nilsson Jesper Eisfeldt Anca Dragomir Martin Paucar Tobias Granberg Tie-Qiang Li Anna Lindstrand Juha Kere Isabel Tapia-Páez

BMC Med Genet 2020 05 1;21(1):87. Epub 2020 May 1.

Department of Medicine, Solna, Karolinska Institutet, Solnavägen 30, 171 76 Solna, Stockholm, Sweden.

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May 2020

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Authors:
Liisa Harjama Kaisa Kettunen Outi Elomaa Elisabet Einarsdottir Hannele Heikkilä Sirpa Kivirikko Katriina Lappalainen Janna Saarela Caroline Alby Annamari Ranki Juha Kere Smail Hadj-Rabia Katariina Hannula-Jouppi

Acta Derm Venereol 2020 Feb 25;100(4):adv00060. Epub 2020 Feb 25.

Department of Dermatology and Allergology, University of Helsinki and Helsinki University Central Hospital, 00029 HUS, Helsinki, Finland.

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February 2020

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Authors:
Salla Keskitalo Emma Haapaniemi Elisabet Einarsdottir Kristiina Rajamäki Hannele Heikkilä Mette Ilander Minna Pöyhönen Ekaterina Morgunova Kati Hokynar Sonja Lagström Sirpa Kivirikko Satu Mustjoki Kari Eklund Janna Saarela Juha Kere Mikko R J Seppänen Annamari Ranki Katariina Hannula-Jouppi Markku Varjosalo

Front Immunol 2019 5;10:2770. Epub 2019 Dec 5.

Institute of Biotechnology, University of Helsinki, Helsinki, Finland.

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November 2020

Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.

Authors:
Katariina Hannula-Jouppi Liisa Harjama Elisabet Einarsdottir Outi Elomaa Kaisa Kettunen Janna Saarela Minna Soronen Laura Bouchard Katriina Lappalainen Hannele Heikkilä Sirpa Kivirikko Mikko R J Seppänen Juha Kere Annamari Ranki

J Am Acad Dermatol 2020 Aug 7;83(2):643-645. Epub 2019 Nov 7.

Department of Dermatology, Skin and Allergy Hospital, University of Helsinki, ERN-skin, and Helsinki University Hospital, Helsinki, Finland.

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August 2020

Genotype and Blood Type Are Associated with Otitis Media.

Authors:
Brett M Wiesen Lena Hafrén Elisabet Einarsdottir Juha Kere Petri S Mattila Regie Lyn P Santos-Cortez

Genet Test Mol Biomarkers 2019 Nov;23(11):823-827

Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.

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November 2019

Acute wheeze-specific gene module shows correlation with vitamin D and asthma medication.

Authors:
Shintaro Katayama Katarina Stenberg Hammar Kaarel Krjutškov Elisabet Einarsdottir Gunilla Hedlin Juha Kere Cilla Söderhäll

Eur Respir J 2020 01 23;55(1). Epub 2020 Jan 23.

Dept of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden

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January 2020

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.

Authors:
Svetlana Vakkilainen Tiina Skoog Elisabet Einarsdottir Anna Middleton Minna Pekkinen Tiina Öhman Shintaro Katayama Kaarel Krjutškov Panu E Kovanen Markku Varjosalo Arne Lindqvist Juha Kere Outi Mäkitie

Sci Rep 2019 09 24;9(1):13758. Epub 2019 Sep 24.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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September 2019

Guide for library design and bias correction for large-scale transcriptome studies using highly multiplexed RNAseq methods.

Authors:
Shintaro Katayama Tiina Skoog Cilla Söderhäll Elisabet Einarsdottir Kaarel Krjutškov Juha Kere

BMC Bioinformatics 2019 Aug 13;20(1):418. Epub 2019 Aug 13.

Department of Biosciences and Nutrition, Karolinska Institutet, 14183, Huddinge, Sweden.

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August 2019

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

Authors:
Helka Göös Christopher L Fogarty Biswajyoti Sahu Vincent Plagnol Kristiina Rajamäki Katariina Nurmi Xiaonan Liu Elisabet Einarsdottir Annukka Jouppila Tom Pettersson Helena Vihinen Kaarel Krjutskov Päivi Saavalainen Asko Järvinen Mari Muurinen Dario Greco Giovanni Scala James Curtis Dan Nordström Robert Flaumenhaft Outi Vaarala Panu E Kovanen Salla Keskitalo Annamari Ranki Juha Kere Markku Lehto Luigi D Notarangelo Sergey Nejentsev Kari K Eklund Markku Varjosalo Jussi Taipale Mikko R J Seppänen

J Allergy Clin Immunol 2019 11 13;144(5):1364-1376. Epub 2019 Jun 13.

Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Rare Diseases Center and Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. Electronic address:

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November 2019

Pleomorphic Adenoma Gene 1 Is Needed For Timely Zygotic Genome Activation and Early Embryo Development.

Authors:
Elo Madissoon Anastasios Damdimopoulos Shintaro Katayama Kaarel Krjutškov Elisabet Einarsdottir Katariina Mamia Bert De Groef Outi Hovatta Juha Kere Pauliina Damdimopoulou

Sci Rep 2019 06 10;9(1):8411. Epub 2019 Jun 10.

Department of Biosciences and Nutrition, Karolinska Institutet, SE-14186, Stockholm, Sweden.

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June 2019

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Authors:
Eric D Larson Jose Pedrito M Magno Matthew J Steritz Erasmo Gonzalo D V Llanes Jonathan Cardwell Melquiadesa Pedro Tori Bootpetch Roberts Elisabet Einarsdottir Rose Anne Q Rosanes Christopher Greenlee Rachel Ann P Santos Ayesha Yousaf Sven-Olrik Streubel Aileen Trinidad R Santos Amanda G Ruiz Sheryl Mae Lagrana-Villagracia Dylan Ray Talitha Karisse L Yarza Melissa A Scholes Catherine B Anderson Anushree Acharya Samuel P Gubbels Michael J Bamshad Stephen P Cass Nanette R Lee Rehan S Shaikh Deborah A Nickerson Karen L Mohlke Jeremy D Prager Teresa Luisa G Cruz Patricia J Yoon Generoso T Abes David A Schwartz Abner L Chan Todd M Wine Eva Maria Cutiongco-de la Paz Norman Friedman Katerina Kechris Juha Kere Suzanne M Leal Ivana V Yang Janak A Patel Ma Leah C Tantoco Saima Riazuddin Kenny H Chan Petri S Mattila Maria Rina T Reyes-Quintos Zubair M Ahmed Herman A Jenkins Tasnee Chonmaitree Lena Hafrén Charlotte M Chiong Regie Lyn P Santos-Cortez

Hum Mutat 2019 08 21;40(8):1156-1171. Epub 2019 May 21.

Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.

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August 2019

A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects.

Authors:
Elisabet Einarsdottir Minna Pekkinen Kaarel Krjutškov Shintaro Katayama Juha Kere Outi Mäkitie Heli Viljakainen

Endocr Connect 2019 May;8(5):559-570

Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.

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May 2019

A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis.

Authors:
Kazuki Takeda Ikuyo Kou Nao Otomo Anna Grauers Yan-Hui Fan Yoji Ogura Yohei Takahashi Yukihide Momozawa Elisabet Einarsdottir Juha Kere Morio Matsumoto Yong Qiu You-Qiang Song Paul Gerdhem Kota Watanabe Shiro Ikegawa

J Hum Genet 2019 May 21;64(5):493-498. Epub 2019 Feb 21.

Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.

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May 2019

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Authors:
Regie Lyn P Santos-Cortez Charlotte M Chiong Daniel N Frank Allen F Ryan Arnaud P J Giese Tori Bootpetch Roberts Kathleen A Daly Matthew J Steritz Wasyl Szeremeta Melquiadesa Pedro Harold Pine Talitha Karisse L Yarza Melissa A Scholes Erasmo Gonzalo D V Llanes Saira Yousaf Norman Friedman Ma Leah C Tantoco Todd M Wine Patrick John Labra Jeanne Benoit Amanda G Ruiz Rhodieleen Anne R de la Cruz Christopher Greenlee Ayesha Yousaf Jonathan Cardwell Rachelle Marie A Nonato Dylan Ray Kimberly Mae C Ong Edward So Charles E Robertson Jordyn Dinwiddie Sheryl Mae Lagrana-Villagracia Samuel P Gubbels Rehan S Shaikh Stephen P Cass Elisabet Einarsdottir Nanette R Lee David A Schwartz Teresa Luisa I Gloria-Cruz Michael J Bamshad Ivana V Yang Juha Kere Generoso T Abes Jeremy D Prager Saima Riazuddin Abner L Chan Patricia J Yoon Deborah A Nickerson Eva Maria Cutiongco-de la Paz Sven-Olrik Streubel Maria Rina T Reyes-Quintos Herman A Jenkins Petri Mattila Kenny H Chan Karen L Mohlke Suzanne M Leal Lena Hafrén Tasnee Chonmaitree Michele M Sale Zubair M Ahmed

Am J Hum Genet 2018 11 25;103(5):679-690. Epub 2018 Oct 25.

Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

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November 2018

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

Authors:
Anas M Khanshour Ikuyo Kou Yanhui Fan Elisabet Einarsdottir Nadja Makki Yared H Kidane Juha Kere Anna Grauers Todd A Johnson Nandina Paria Chandreshkumar Patel Richa Singhania Nobuhiro Kamiya Kazuki Takeda Nao Otomo Kota Watanabe Keith D K Luk Kenneth M C Cheung John A Herring Jonathan J Rios Nadav Ahituv Paul Gerdhem Christina A Gurnett You-Qiang Song Shiro Ikegawa Carol A Wise

Hum Mol Genet 2018 11;27(22):3986-3998

Sarah M. & Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA.

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November 2018

Moritella viscosa in lumpfish (Cyclopterus lumpus) and Atlantic salmon (Salmo salar).

Authors:
Thorbjorg Einarsdottir Heida Sigurdardottir Thorunn Soley Bjornsdottir Elisabet Einarsdottir

J Fish Dis 2018 Nov 21;41(11):1751-1758. Epub 2018 Aug 21.

Folkhälsan Institute of Genetics and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland.

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November 2018

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis.

Authors:
Ikuyo Kou Kota Watanabe Yohei Takahashi Yukihide Momozawa Anas Khanshour Anna Grauers Hang Zhou Gang Liu Yan-Hui Fan Kazuki Takeda Yoji Ogura Taifeng Zhou Yusuke Iwasaki Michiaki Kubo Zhihong Wu Morio Matsumoto Elisabet Einarsdottir Juha Kere Dongsheng Huang Guixing Qiu Yong Qiu Carol A Wise You-Qiang Song Nan Wu Peiqiang Su Paul Gerdhem Shiro Ikegawa

Sci Rep 2018 08 1;8(1):11575. Epub 2018 Aug 1.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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August 2018

MANF protects human pancreatic beta cells against stress-induced cell death.

Authors:
Elina Hakonen Vikash Chandra Christopher L Fogarty Nancy Yiu-Lin Yu Jarkko Ustinov Shintaro Katayama Emilia Galli Tatiana Danilova Päivi Lindholm Aki Vartiainen Elisabet Einarsdottir Kaarel Krjutškov Juha Kere Mart Saarma Maria Lindahl Timo Otonkoski

Diabetologia 2018 10 21;61(10):2202-2214. Epub 2018 Jul 21.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, PO Box 63, (Haartmaninkatu 8), 00014, Helsinki, Finland.

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October 2018

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

Authors:
Marjaana Pussila Petri Törönen Elisabet Einarsdottir Shintaro Katayama Kaarel Krjutškov Liisa Holm Juha Kere Päivi Peltomäki Markus J Mäkinen Jere Linden Minna Nyström

Carcinogenesis 2018 05;39(6):788-797

Faculty of Biological and Environmental Sciences, Molecular and Integrative Biosciences Research Programme.

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May 2018

An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis.

Authors:
Yoji Ogura Kazuki Takeda Ikuyo Kou Anas Khanshour Anna Grauers Hang Zhou Gang Liu Yan-Hui Fan Taifeng Zhou Zhihong Wu Yohei Takahashi Morio Matsumoto Elisabet Einarsdottir Juha Kere Dongsheng Huang Guixing Qiu Leilei Xu Yong Qiu Carol A Wise You-Qiang Song Nan Wu Peiqiang Su Paul Gerdhem Kota Watanabe Shiro Ikegawa

Sci Rep 2018 03 16;8(1):4730. Epub 2018 Mar 16.

Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.

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March 2018

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.

Authors:
Elisabet Einarsdottir Anna Grauers Jingwen Wang Hong Jiao Stefan A Escher Aina Danielsson Ane Simony Mikkel Andersen Steen Bach Christensen Kristina Åkesson Ikuyo Kou Anas M Khanshour Acke Ohlin Carol Wise Shiro Ikegawa Juha Kere Paul Gerdhem

PLoS One 2017 14;12(12):e0189591. Epub 2017 Dec 14.

Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden.

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December 2017

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland.

Authors:
Jannica S Selenius Timi Martelius Sampsa Pikkarainen Sanna Siitonen Eero Mattila Risto Pietikäinen Pekka Suomalainen Arja H Aalto Janna Saarela Elisabet Einarsdottir Asko Järvinen Martti Färkkilä Juha Kere Mikko Seppänen

Front Immunol 2017 28;8:1190. Epub 2017 Sep 28.

Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.

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September 2017

A mouse-to-man candidate gene study identifies association of chronic otitis media with the loci TGIF1 and FBXO11.

Authors:
Mahmood F Bhutta Jane Lambie Lindsey Hobson Anuj Goel Lena Hafrén Elisabet Einarsdottir Petri S Mattila Martin Farrall Steve Brown Martin J Burton

Sci Rep 2017 10 2;7(1):12496. Epub 2017 Oct 2.

Nuffield Department of Surgical Sciences, University of Oxford, Headley Way, Oxford, OX3 9DU, UK.

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October 2017

Acute doses of caffeine shift nervous system cell expression profiles toward promotion of neuronal projection growth.

Authors:
Nancy Y Yu Andrea Bieder Amitha Raman Enrichetta Mileti Shintaro Katayama Elisabet Einarsdottir Bertil B Fredholm Anna Falk Isabel Tapia-Páez Carsten O Daub Juha Kere

Sci Rep 2017 09 13;7(1):11458. Epub 2017 Sep 13.

Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, SE-141 83, Sweden.

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September 2017

Identification of NCAN as a candidate gene for developmental dyslexia.

Authors:
Elisabet Einarsdottir Myriam Peyrard-Janvid Fahimeh Darki Jetro J Tuulari Harri Merisaari Linnea Karlsson Noora M Scheinin Jani Saunavaara Riitta Parkkola Katri Kantojärvi Antti-Jussi Ämmälä Nancy Yiu-Lin Yu Hans Matsson Jaana Nopola-Hemmi Hasse Karlsson Tiina Paunio Torkel Klingberg Eira Leinonen Juha Kere

Sci Rep 2017 08 24;7(1):9294. Epub 2017 Aug 24.

Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland.

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August 2017

Optimizing bone morphogenic protein 4-mediated human embryonic stem cell differentiation into trophoblast-like cells using fibroblast growth factor 2 and transforming growth factor-β/activin/nodal signalling inhibition.

Authors:
Mariann Koel Urmo Võsa Kaarel Krjutškov Elisabet Einarsdottir Juha Kere Juha Tapanainen Shintaro Katayama Sulev Ingerpuu Viljar Jaks Ulf-Hakan Stenman Karolina Lundin Timo Tuuri Andres Salumets

Reprod Biomed Online 2017 Sep 12;35(3):253-263. Epub 2017 Jun 12.

Competence Centre on Health Technologies, Tartu, Estonia; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Obstetrics and Gynaecology, University of Tartu, Tartu, Estonia; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.

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September 2017

Estrogen receptor β, a regulator of androgen receptor signaling in the mouse ventral prostate.

Authors:
Wan-Fu Wu Laure Maneix Jose Insunza Ivan Nalvarte Per Antonson Juha Kere Nancy Yiu-Lin Yu Virpi Tohonen Shintaro Katayama Elisabet Einarsdottir Kaarel Krjutskov Yu-Bing Dai Bo Huang Wen Su Margaret Warner Jan-Åke Gustafsson

Proc Natl Acad Sci U S A 2017 05 24;114(19):E3816-E3822. Epub 2017 Apr 24.

Center for Nuclear Receptors and Cell Signaling, University of Houston, Houston, TX 77204;

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May 2017