BackgroundMitochondrial progressive external ophthalmoplegia (PEO) encompasses a broad spectrum of clinical and genetic disorders. We describe the phenotypic subtypes of PEO and its correlation with molecular defects and propose a diagnostic algorithm.MethodsRetrospective analysis of the clinical, pathological and genetic features of 89 cases.ResultsThree main phenotypes were found: ‘pure PEO’ (42%), consisting of isolated palpebral ptosis with ophthalmoparesis; Kearns-Sayre syndrome (10%); and ‘PEO...
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BackgroundMultiple morphological abnormalities of the flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility defined as asthenozoospermia. Despite numerous genes recently described to be recurrently associated with MMAF, more than half of the cases analysed remain unresolved, suggesting that many yet uncharacterised gene defects account for this phenotypeMethodsExome sequencing was performed on 167 infertile men with an MMAF phenotype. Immunostaining and transmission...
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BackgroundFabry disease (α-galactosidase deficiency) is an X-linked genetic disease caused by a variety of pathogenic GLA variants. The phenotypic heterogeneity is considerable, with two major forms, classic and later-onset disease, but adjudication of clinical phenotype is currently lacking for many variants. We aimed to determine consensus phenotypic classification for previously unclassified GLA variants from the GLA-specific fabry-database.org database.MethodsA Fabry disease genotype–phenotype...
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Abstract The deterioration of the skin morphology and physiology is the first and earliest obvious harbinger of the aging process which is progressively manifested with increasing age. Such deterioration affects the vital functions of the skin such as homeodynamic regulation of body temperature, fluid balance, loss of electrolytes and proteins, production of vitamin D, waste removal, immune surveillance, sensory perception, and protection of other organs against deleterious environmental...
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Abstract Introduction The levonorgestrel oral emergency contraceptive is well tolerated and effective, however its use is still limited, mainly due to safety concerns. Objective This systematic review and meta-analysis aimed to summarize current evidence regarding the adverse events, and their prevalence, reported during the use of oral levonorgestrel emergency...
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Vaccines, Vol. 8, Pages 125: Immune Pressure on Polymorphous Influenza B Populations Results in Diverse Hemagglutinin Escape Mutants and Lineage Switching Vaccines doi: 10.3390/vaccines8010125 Authors: Ewan P. Plant Hasmik Manukyan Jose L. Sanchez Majid Laassri Zhiping Ye Mutations arise in the genomes of progeny viruses during infection. Mutations that occur in epitopes targeted by host antibodies allow the progeny virus to escape the host adaptive, B-cell mediated antibody...
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Vaccines, Vol. 8, Pages 124: Safety of Administering Live Vaccines During Pregnancy: A Systematic Review and Meta-Analysis of Pregnancy Outcomes Vaccines doi: 10.3390/vaccines8010124 Authors: Almudena Laris-González Daniel Bernal-Serrano Alexander Jarde Beate Kampmann Live-attenuated vaccines (LAV) are currently contraindicated during pregnancy, given uncertain safety records for the mother–infant pair. LAV might, however, play an important role to protect them against...
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The prognosis of patients with high‐grade or advanced‐stage endometrial cancer remains poor. As cancer stem‐like cells (CSCs) are thought to be associated with endometrial cancers, it is essential to investigate the molecular mechanisms that regulate endometrial CSCs. Dual specificity phosphatase 6 (DUSP6) functions as a negative‐feedback regulator of MAPK–ERK1/2 signaling, but its role in endometrial cancer remains unknown. We investigated whether DUSP6 is involved in cancer cell stemness using...
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Abstract Prostate cancer is a heterogeneous disease and optimum gene targeting treatment is often impermissible. We aim to determine the intratumoral genomic heterogeneity of prostate cancer and explore candidate genes for targeted therapy. Exome sequencing was performed on 37 samples from 16 patients with prostate cancer. Somatic variant analysis, copy number variant (CNV) analysis, clonal evolution analysis and variant spectrum analysis were used to study the intratumoral genomic heterogeneity...
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Replication stress is a common feature of cancer cells. Ataxia Telangiectasia Mutated (ATM) and Rad3 related (ATR) signalling, a DNA damage repair (DDR) pathway, is activated by regions of single‐stranded DNA (ssDNA) that can arise during replication stress. ATR delays cell cycle progression and prevents DNA replication fork collapse, which prohibits cell death and promotes proliferation. Several ATR inhibitors have been developed in order to restrain this protective mechanism in tumours. It is known,...
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Comparable performance indicators for breast cancer screening in the European Union (EU) have not been previously reported. We estimated adjusted breast cancer screening positivity rate (PR) and detection rates (DR) to investigate variation across EU countries. For the age 50‐69 years, the adjusted EU‐pooled PR for initial screening was 8.9% (cross programme variation range 3.2‐19.5%) while DR of invasive cancers was 5.3/1,000 (range 3.8‐7.4/1,000) and DR of ductal carcinoma in situ (DCIS) was 1.3/1,000...
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Photochem. Photobiol. Sci., 2020, Advance ArticleDOI: 10.1039/D0PP00017E, Technical NoteSung Bae Kim, Sharon Seiko Hori, Negar Sadeghipour, Uday Kumar Sukumar, Rika Fujii, Tarik F. Massoud, Ramasamy PaulmuruganWe demonstrate the potential of an eight-channel light sensing platform system, named Black Box I (BBI), for rapid and highly sensitive measurement of low-level light using a nonradioactive optical readout.To cite this article before page numbers are assigned, use the DOI form of citation above.The...
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Pathogens, Vol. 9, Pages 207: Effectiveness of Sulfadoxine–Pyrimethamine for Intermittent Preventive Treatment of Malaria and Adverse Birth Outcomes in Pregnant Women Pathogens doi: 10.3390/pathogens9030207 Authors: Eulambius M. Mlugu Omary Minzi Muhammad Asghar Anna Färnert Appolinary A.R. Kamuhabwa Eleni Aklillu Effectiveness of intermittent preventive treatment in pregnancy with sulfadoxine–pyrimethamine (IPTp-SP) for prevention of malaria and adverse birth...
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Pathogens, Vol. 9, Pages 206: Identification and Genome Analysis of Vibrio coralliilyticus Causing Mortality of Pacific Oyster (Crassostrea gigas) Larvae Pathogens doi: 10.3390/pathogens9030206 Authors: Hyoun Joong Kim Jin Woo Jun Sib Sankar Giri Cheng Chi Saekil Yun Sang Guen Kim Sang Wha Kim Se Jin Han Jun Kwon Woo Taek Oh Sung Bin Lee Ji Hyung Kim Se Chang Park Vibrio coralliilyticus is known as a coral pathogen that also infects marine bivalve...
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Background: Atopic dermatitis (AD) is one of the most common inflammatory skin diseases, with an increasing incidence in clinical practice. AD models have demonstrated that TGF-β signaling is compromised in regulatory T cells (Tregs). Objectives: This study aimed to investigate the TGF-β-dependent in vitro conversion of CD4+CD25– T cells derived from AD-patients into CD4+CD25+Foxp3+ induced Tregs (iTregs) in comparison to healthy controls. Methods: To analyze in vitro iTreg conversion, human CD4+CD25–...
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Abstract Background Different polycystic ovary syndrome (PCOS) phenotypes are correlated with different clinical severity levels. Insulin resistance correlates with higher severity. In a retrospective study, 130 patients with polycystic ovary syndrome were examined for insulin resistance. The aim of the study was to investigate relationships between glucose metabolism and different PCOS phenotypes and to identify biomarkers or combinations thereof to obtain information on the type of metabolic...
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Brendan Evano, Sara Khalilian, Gilles Le Carrou, Geneviève Almouzni, Shahragim Tajbakhsh
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Andrea J. De Micheli, Emily J. Laurilliard, Charles L. Heinke, Hiranmayi Ravichandran, Paula Fraczek, Sharon Soueid-Baumgarten, Iwijn De Vlaminck, Olivier Elemento, Benjamin D. Cosgrove
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Laurianne Besse, Caroline J. Sheeba, Mark Holt, Maurice Labuhn, Susan Wilde, Eleanor Feneck, Donald Bell, Ania Kucharska, Malcolm P.O. Logan
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Clayton P. Mosher, Yina Wei, Jan Kamiński, Anirban Nandi, Adam N. Mamelak, Costas A. Anastassiou, Ueli Rutishauser
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Pierre De Rossi, Toshihiro Nomura, Robert J. Andrew, Nicolas Y. Masse, Vandana Sampathkumar, Timothy F. Musial, Ari Sudwarts, Aleksandra J. Recupero, Thomas Le Metayer, Mitchell T. Hansen, Ha-Na Shim, Sofia V. Krause, David J. Freedman, Vytas P. Bindokas, Narayanan Kasthuri, Daniel A. Nicholson, Anis Contractor, Gopal Thinakaran
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Patrick Lüningschrör, Georg Werner, Stijn Stroobants, Soichiro Kakuta, Benjamin Dombert, Daniela Sinske, Renate Wanner, Renate Lüllmann-Rauch, Benedikt Wefers, Wolfgang Wurst, Rudi D’Hooge, Yasuo Uchiyama, Michael Sendtner, Christian Haass, Paul Saftig, Bernd Knöll, Anja Capell, Markus Damme
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Timothy A. Zolnik, Julia Ledderose, Maria Toumazou, Thorsten Trimbuch, Tess Oram, Christian Rosenmund, Britta J. Eickholt, Robert N.S. Sachdev, Matthew E. Larkum
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Takashi Yasukawa, Aya Tsutsui, Chieri Tomomori-Sato, Shigeo Sato, Anita Saraf, Michael P. Washburn, Laurence Florens, Tohru Terada, Kentaro Shimizu, Ronald C. Conaway, Joan W. Conaway, Teijiro Aso
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Claire M. King, Kirsten Bohmbach, Daniel Minge, Andrea Delekate, Kaiyu Zheng, James Reynolds, Cordula Rakers, Andre Zeug, Gabor C. Petzold, Dmitri A. Rusakov, Christian Henneberger
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Adrian E. Morelli, Tina L. Sumpter, Darling M. Rojas-Canales, Mohna Bandyopadhyay, Zhizhao Chen, Olga Tkacheva, William J. Shufesky, Callen T. Wallace, Simon C. Watkins, Alexandra Berger, Christopher J. Paige, Louis D. Falo, Adriana T. Larregina
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Shirsendu Ghosh, Vincenzo Di Bartolo, Liron Tubul, Eyal Shimoni, Elena Kartvelishvily, Tali Dadosh, Sara W. Feigelson, Ronen Alon, Andres Alcover, Gilad Haran
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Tenagne D. Challa, Dianne H. Dapito, Elisabeth Kulenkampff, Elke Kiehlmann, Caroline Moser, Leon Straub, Wenfei Sun, Christian Wolfrum
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Huizhong Feng, Kenji Schorpp, Jenny Jin, Carrie E. Yozwiak, Benjamin G. Hoffstrom, Aubrianna M. Decker, Presha Rajbhandari, Michael E. Stokes, Hannah G. Bender, Joleen M. Csuka, Pavan S. Upadhyayula, Peter Canoll, Koji Uchida, Rajesh K. Soni, Kamyar Hadian, Brent R. Stockwell
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Manon Viaud, Omar Abdel-Wahab, Julie Gall, Stoyan Ivanov, Rodolphe Guinamard, Sophie Sore, Johanna Merlin, Marion Ayrault, Emma Guilbaud, Arnaud Jacquel, Patrick Auberger, Nan Wang, Ross L. Levine, Alan R. Tall, Laurent Yvan-Charvet
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Evan K. Day, Nisha G. Sosale, Aizhen Xiao, Qing Zhong, Benjamin Purow, Matthew J. Lazzara
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Julia Rohrberg, Daniel Van de Mark, Meelad Amouzgar, Joyce V. Lee, Moufida Taileb, Alexandra Corella, Seda Kilinc, Jeremy Williams, Marie-Lena Jokisch, Roman Camarda, Sanjeev Balakrishnan, Rama Shankar, Alicia Zhou, Aaron N. Chang, Bin Chen, Hope S. Rugo, Sophie Dumont, Andrei Goga
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): John D. Laver, Jimmy Ly, Allison K. Winn, Angelo Karaiskakis, Sichun Lin, Kun Nie, Giulia Benic, Nima Jaberi-Lashkari, Wen Xi Cao, Alireza Khademi, J. Timothy Westwood, Sachdev S. Sidhu, Quaid Morris, Stephane Angers, Craig A. Smibert, Howard D. Lipshitz
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Julie Bergalet, Dhara Patel, Félix Legendre, Catherine Lapointe, Louis Philip Benoit Bouvrette, Ashley Chin, Mathieu Blanchette, Eunjeong Kwon, Eric Lécuyer
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Aftab Amin, Rentian Wu, Man Hei Cheung, John F. Scott, Ziyi Wang, Zijing Zhou, Changdong Liu, Guang Zhu, Chris Kong-Chu Wong, Zhiling Yu, Chun Liang
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Samah Matmati, Sarah Lambert, Vincent Géli, Stéphane Coulon
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): J. Yuyang Lu, Wen Shao, Lei Chang, Yafei Yin, Tong Li, Hui Zhang, Yantao Hong, Michelle Percharde, Lerui Guo, Zhongyang Wu, Lichao Liu, Wei Liu, Pixi Yan, Miguel Ramalho-Santos, Yujie Sun, Xiaohua Shen
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Publication date: 10 March 2020Source: Cell Reports, Volume 30, Issue 10Author(s): Pierre Billon, Tarun S. Nambiar, Samuel B. Hayward, Maria P. Zafra, Emma M. Schatoff, Koichi Oshima, Andrew Dunbar, Marco Breinig, Young C. Park, Han S. Ryu, Darjus F. Tschaharganeh, Ross L. Levine, Richard Baer, Adolfo Ferrando, Lukas E. Dow, Alberto Ciccia
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