Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank Autor Emmi Tikkanen, Stefan Gustafsson, David Amar, Anna Shcherbina, Daryl Waggott, Euan A. Ashley, Erik Ingelsson

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Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome Autor Alexandra Laberko, Dmitry Balashov, Elena Deripapa, Olga Soldatkina, Elena Raikina, Alexei Maschan, Galina Novichkova, Anna Shcherbina

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Learning cis-regulatory principles of ADAR-based RNA editing from CRISPR-mediated mutagenesis Autor Xin Liu, Tao Sun, Anna Shcherbina, Qin Li, Inga Jarmoskaite, Kalli Kappel, Gokul Ramaswami, Rhiju Das, Anshul Kundaje, Jin Billy Li

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Rituximab and Abatacept Are Effective in Differential Treatment of Interstitial Lymphocytic Lung Disease in Children With Primary Immunodeficiencies Autor Yulia Rodina, E. Deripapa, O. Shvets, A. Mukhina, A. Roppelt, D. Yuhacheva, A. Laberko, V. Burlakov, D. Abramov, G. Tereshchenko, G. Novichkova, Anna Shcherbina

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S178: A NEW HEREDITARY SYNDROME WITH SEVERE NEUTROPENIA AND NEUROLOGICAL INVOLVEMENT CAUSED BY THE AUTOSOMAL RECESSIVE COPZ1 MUTATION Autor Natalia Borbaran Bravo, Larissa Doll, Ekaterina Deordieva, Sandro Bräuning, Benjamin Dannenmann, Mohammad Elgamacy, Viktoria Zakharova, Claudia Lengerke, Cornelia Zeidler, Karl Welte, Anna Shcherbina, Julia Skokowa, Maksim Klimiankou

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Healthy pediatric platelets are moderately hyporeactive in comparison with adults’ platelets Autor Evgeniya A. Ponomarenko, Anastasia A. Ignatova, Dmitrii M. Polokhov, Rimma D. Khismatullina, Darja S. Kurilo, Anna Shcherbina, Pavel A. Zharkov, Alexey A. Maschan, Galina A. Novichkova, Mikhail A. Panteleev

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Ex vivo observation of granulocyte activity during thrombus formation Autor Daria S. Morozova, Alexey A. Martyanov, Sergei I. Obydennyi, Julia-Jessica D. Korobkin, Alexey V. Sokolov, Ekaterina V. Shamova, Irina V. Gorudko, Anna L. Khoreva, Anna Shcherbina, Mikhail A. Panteleev, Anastasia N. Sveshnikova

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Combined therapy with IL-1 and JAK inhibitors in a patient with the NLRP1 gene mutation and a complex inflammatory phenotype Autor Vasily Burlakov, MD, Anna Kozlova, PhD, Dmitry Pershin, PhD, Yulia Rodina, MD, PhD, Igor Khamin, MD, Galina Novichkova, MD, PhD, Ivona Aksentijevich, PhD, Anna Shcherbina, MD, PhD

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Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature Autor Anna Khoreva, Ekaterina Pomerantseva, Natalia Belova, Inna Povolotskaya, Inna Povolotskaya, Fedor Konovalov, Vladimir Kaimonov, Alena Gavrina, Sergey Zimin, Dmitrii Pershin, Nataliia Davydova, Vasilii Burlakov, Ekaterina Viktorova, Anna Roppelt, Ekaterina Kalinina, Galina Novichkova, Anna Shcherbina

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Mechanisms of increased mitochondria-dependent necrosis in Wiskott-Aldrich syndrome platelets Autor Sergey I. Obydennyi, Elena O. Artemenko, Anastasia N. Sveshnikova, Anastasia A. Ignatova, Tatiana V. Varlamova, Stepan Gambaryan, Galina Y. Lomakina, Natalia N. Ugarova, Igor I. Kireev, Fazoil I. Ataullakhanov, Galina A. Novichkova, Aleksey A. Maschan, Anna Shcherbina, Mikhail Panteleev

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Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and B... Autor Elena Deripapa, Dmitry Balashov, Yulia Rodina, Alexandra Laberko, Natalya Myakova, Nataliia V. Davydova, Nataliia V. Davydova, Maria A. Gordukova, Dmitrii S. Abramov, Galina V. Pay, Larisa Shelikhova, Andrey P. Prodeus, Andrey P. Prodeus, Mikhail A. Maschan, Alexey A. Maschan, Anna Shcherbina

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Dissecting Murine Muscle Stem Cell Aging through Regeneration Using Integrative Genomic Analysis Autor Anna Shcherbina, Jacqueline Larouche, Paula Fraczek, Benjamin A. Yang, Lemuel A. Brown, James F. Markworth, Carolina H. Chung, Mehwish Khaliq, Kanishka de Silva, Jeongmoon J. Choi, Mohammad Fallahi-Sichani, Sriram Chandrasekaran, Young C. Jang, Susan V. Brooks, Carlos A. Aguilar

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Flow cytometry for pediatric platelets Autor Anastasia A. Ignatova, Evgeniya A. Ponomarenko, Dmitry M. Polokhov, Elena V. Suntsova, Pavel A. Zharkov, Daria V. Fedorova, Ekaterina N. Balashova, Anastasia E. Rudneva, Vadim V. Ptushkin, Evgeniy A. Nikitin, Anna Shcherbina, Alexei A. Maschan, Galina A. Novichkova, Mikhail A. Panteleev

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Dissecting thrombus-directed chemotaxis and random movement in neutrophil near-thrombus motion in flow chambers Autor Julia-Jessica D. Korobkin, Ekaterina A. Deordieva, Ivan P. Tesakov, Ekaterina-Iva A. Adamanskaya, Anna E. Boldova, Antonina A. Boldyreva, Sofia V. Galkina, Daria P. Lazutova, Alexey A. Martyanov, Vitaly A. Pustovalov, Galina A. Novichkova, Anna Shcherbina, Mikhail A. Panteleev, Anastasia N. Sveshnikova

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Transcriptional and Chromatin Dynamics of Muscle Regeneration after Severe Trauma Autor Carlos A. Aguilar, Ramona Pop, Anna Shcherbina, Alain Watts, Ronald W. Matheny Jr., Davide Cacchiarelli, Woojin M. Han, Eunjung Shin, Shadi A. Nakhai, Young C. Jang, Christopher T. Carrigan, Casey A. Gifford, Melissa A. Kottke, Marcella Cesana, Jackson Lee, Maria L. Urso, Alexander Meissner

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Decreased TREC and KREC levels in newborns with trisomy 21 Autor Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev

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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry Autor Riccardo Papa, Matteo Doglio, Helen J. Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno, for the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project

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The effect of digital physical activity interventions on daily step count: a randomised controlled crossover substudy of the MyHeart Counts Cardiovascular Health Study Autor Anna Shcherbina, MS, Steven G Hershman, PhD, Laura Lazzeroni, ProfPhD, Abby C King, ProfPhD, Jack W O'Sullivan, MBBS, Eric Hekler, PhD, Yasbanoo Moayedi, MD, Aleksandra Pavlovic, BS, Daryl Waggott, MSc, Abhinav Sharma, MD, Alan Yeung, MD, Jeffrey W Christle, PhD, Matthew T Wheeler, MD, Michael V McConnell, MD, Robert A Harrington, ProfMD, Euan A Ashley, ProfMBChB

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Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS) Autor Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, Daniela Gerent Petry Piotto, Anna Kozlova, Maria Teresa Terreri, Anna Shcherbina, Andre Rastegar, Marta Rodrigues, Renan Pereira, Sophia Park, Bin Lin, Kat Uss, Sophie Möller, Ana Flávia da Silva Pina, Flavio Sztajnbok, Sofia Torreggiani, Julie Niemela, Jennifer Stoddard, Sergio D. Rosenzweig, Andrew J. Oler, Colton McNinch, Marietta M. de Guzman, Adriana Fonseca, Nicole Micheloni, Melissa Mariti Fraga, Sandro Félix Perazzio, Raphaela Goldbach-Mansky, Adriana A. de Jesus, Elke Krüger

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Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility Autor Anna Khoreva, MD, Kirill R. Butov, MD, Elena I. Nikolaeva, MD, Alexey Martyanov, PhD, Elena Kulakovskaya, MD, Dmitry Pershin, MD, Maxim Alexenko, MD, Maria Kurnikova, MD, Ruslan Abasov, MD, Elena Raykina, PhD, Dmitry Abramov, MD, Kristina Arnaudova, PhD, Yulia Rodina, PhD, Natalia Trubina, MD, Yulia Skvortsova, PhD, Dmitry Balashov, PhD, Anastasia Sveshnikova, PhD, Alexey Maschan, PhD, Galina Novichkova, PhD, Mikhail Panteleev, PhD, Anna Shcherbina, PhD

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