Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

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dotears: Scalable and consistent directed acyclic graph estimation using observational and interventional data by Albert Xue, Jingyou Rao, Sriram Sankararaman, Harold Pimentel

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An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy by Sheena Sharma, Jennifer M. Kalish, Ethan M. Goldberg, Francis Jeshira Reynoso, Madhura Pradhan

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Automated Zebrafish Spine Scoring System Based on Instance Segmentation by Wen-Hsin Chen, Tien-Ying Kuo, Yu-Jen Wei, Cheng-Jung Ho, Ming-der Lin, Huan Chen, Wen-Ying Lin

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CRALBP is a Highly Prevalent Autoantigen for Human Autoimmune Uveitis by Cornelia A. Deeg, Albert J. Raith, Barbara Amann, John W. Crabb, Stephan R. Thurau, Stefanie M. Hauck, Marius Ueffing, Gerhild Wildner, Manfred Stangassinger

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Psychiatric disorders in children and adolescents with temporal lobe epilepsy: A narrative review by Pietro Cappelletto, Claudia Accolla, Martina Preti, Tiziana Pisano, Carmen Barba, Renzo Guerrini

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Identification of p53 and Its Isoforms in Human Breast Carcinoma Cells by Zorka Milićević, Vladan Bajić, Lada Živković, Jelena Kasapović, Uroš Andjelković, Biljana Spremo-Potparević

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A Combined Computational and Experimental Study on Nanoparticle Transport and Partitioning in the Human Trachea and Upper Bronchial Airways by Jiawei Ma, Wei-Chung Su, Yi Chen, Yidan Shang, Jingliang Dong, Jiyuan Tu, Lin Tian

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Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicot... by Markus Leitinger, Serena Broggi, Mathias Spendel, Gudrun Kalss, Ivan Petrović, Herbert Krainz, Fabio Rossini, Julia Höfler, Andreea Toma, Giorgi Kuchukhidze, Matthias Mauritz, Kai‐Nicolas Poppert, Bernardo Crespo‐Pimentel, Pilar Bosque‐Varela, Anna Pleyers, Patricia Ganger, Dieter Kotzot, Davor Lessel, Christoph J. Griessenauer, Eugen Trinka

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The PRC2.1 subcomplex opposes G1 progression through regulation of CCND1 and CCND2 by Adam D Longhurst, Kyle Wang, Harsha Garadi Suresh, Mythili Ketavarapu, Henry N Ward, Ian R Jones, Vivek Narayan, Frances V Hundley, Arshia Zernab Hassan, Charles Boone, Chad L Myers, Yin Shen, Vijay Ramani, Brenda J Andrews, David P Toczyski

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Nature and Nurture of Human Pain by Inna Belfer

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Human Brain Organoid: A Versatile Tool for Modeling Neurodegeneration Diseases and for Drug Screening by Cuili Ma, Hwanwook Seong, Xiaowei Li, Xiao Yu, Shunliang Xu, Yujing Li

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Silymarin: a promising modulator of apoptosis and survival signaling in cancer by Ujjawal Sharma, Praveen Kumar Sahni, Bunty Sharma, Madhu Gupta, Damandeep Kaur, Darin Mansor Mathkor, Shafiul Haque, Sabiha Khatoon, Hardeep Singh Tuli, Astha Mishra, Faraz Ahmad

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Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function by Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J. Falk, Hakon Hakonarson

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Stimulation of MMP-1 and CCL2 by NAMPT in PDL Cells by Marjan Nokhbehsaim, Sigrun Eick, Andressa Vilas Boas Nogueira, Per Hoffmann, Stefan Herms, Holger Fröhlich, Søren Jepsen, Andreas Jäger, Joni Augusto Cirelli, James Deschner

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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability by Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI

“…Willem MA Verhoeven,1– 3 Rolph Pfundt,4,5 Udo FH Engelke,6 Leo AJ Kluijtmans,6 Jos IM Egger3– 5 1Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands; 2Centre for Consultation and Expertise, Utrecht, The Netherlands; 3Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 4Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; 5Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; 6Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The NetherlandsCorrespondence: Willem MA Verhoeven, Email wmaverhoeven@planet.nlIntroduction: Levocarnitine is essential for brain functioning and fatty acid metabolism and stems largely from dietary sources. …”
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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

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Distinct immune cell infiltration patterns in pancreatic ductal adenocarcinoma (PDAC) exhibit divergent immune cell selection and immunosuppressive mechanisms by Shivan Sivakumar, Ashwin Jainarayanan, Edward Arbe-Barnes, Piyush Kumar Sharma, Maire Ni Leathlobhair, Sakina Amin, David J. Reiss, Lara Heij, Samarth Hegde, Assaf Magen, Felicia Tucci, Bo Sun, Shihong Wu, Nithishwer Mouroug Anand, Hubert Slawinski, Santiago Revale, Isar Nassiri, Jonathon Webber, Gerard D. Hoeltzel, Adam E. Frampton, Georg Wiltberger, Ulf Neumann, Philip Charlton, Laura Spiers, Tim Elliott, Maria Wang, Suzana Couto, Thomas Lila, Pallavur V. Sivakumar, Alexander V. Ratushny, Mark R. Middleton, Dimitra Peppa, Benjamin Fairfax, Miriam Merad, Michael L. Dustin, Enas Abu-Shah, Rachael Bashford-Rogers

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FTO rs17817449 Variant Increases the Risk of Severe Obesity in a Brazilian Cohort: A Case-Control Study by Salum KCR, Assis ISS, Kopke ÚA, Palhinha L, Abreu GM, Gouvêa LW, Teixeira MR, Mattos FCC, Nogueira Neto JF, Felício RFM, Rosado EL, Zembrzuski VM, Campos Junior M, Maya-Monteiro CM, Cabello PH, Carneiro JRI, Bozza PT, Kohlrausch FB, da Fonseca ACP

“…Kaio Cezar Rodrigues Salum,1,2 Izadora Sthephanie da Silva Assis,1,2 Úrsula de Almeida Kopke,3 Lohanna Palhinha,4 Gabriella de Medeiros Abreu,2,5 Laura Wendling Gouvêa,1,2 Myrela Ribeiro Teixeira,2,6,7 Fernanda Cristina C Mattos,5 José Firmino Nogueira Neto,8 Rafaela de Freitas Martins Felício,9,10 Eliane Lopes Rosado,5 Verônica Marques Zembrzuski,2 Mario Campos Junior,2 Clarissa Menezes Maya-Monteiro,4 Pedro Hernán Cabello,2 João Regis Ivar Carneiro,1 Patrícia Torres Bozza,4 Fabiana Barzotto Kohlrausch,6 Ana Carolina Proença da Fonseca2,4,11 1Medical Clinic Department, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil; 2Human Genetics Laboratory, Oswaldo Cruz Institute, Rio de Janeiro, Brazil; 3Chester Medical School, University of Chester, Chester, UK; 4Laboratory of Immunopharmacology, Oswaldo Cruz Institute, Rio de Janeiro, Brazil; 5Institute of Nutrition Josué de Castro, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil; 6Human Genetics Laboratory, Institute of Biology, Federal Fluminense University Niterói, Rio de Janeiro, Brazil; 7Postgraduate in Sciences and Biotechnology, Fluminense Federal University Niterói, Rio de Janeiro, Brazil; 8Department of Pathology and Laboratory, Rio de Janeiro State University, Rio de Janeiro, Brazil; 9Birth Defect Epidemiology laboratory, Oswaldo Cruz Institute, Rio de Janeiro, Brazil; 10Health Care Network for Congenital Anomalies of the Central Nervous System, Instituto Oswaldo Cruz, Rio de Janeiro, Brazil; 11Genetics Laboratory, Grande Rio University, Rio de Janeiro, BrazilCorrespondence: Ana Carolina Proença da Fonseca, Laboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation (Fiocruz), 4365 Brasil Avenue, 108 Building – Office 44, Rio de Janeiro, 21040-360, Brazil, Tel +55(21)38658192, Email ana.proenca@ioc.fiocruz.br Kaio Cezar Rodrigues Salum, Human Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation (Fiocruz), 4365 Brasil Avenue, Leônidas Deane Building – Office 611/615, Rio de Janeiro, 21040-360, Brazil, Tel +55 21 38658213, Fax +55 21 38658239, Email kaio.salum@hotmail.comPurpose: Obesity is a complex disease caused by a combination of genetic, environmental, and epigenetic factors, and is associated with an increased risk of chronic diseases. …”
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The GWAS-MAP|ovis platform for aggregation and analysis of genome-wide association study results in sheep by A. V. Kirichenko, A. S. Zlobin, T. I. Shashkova, N. A. Volkova, B. S. Iolchiev, V. A. Bagirov, P. M. Borodin, L. С. Karssen, Y. A. Tsepilov, Y. S. Aulchenko

“…Within the framework of human genetics, there are several technological solutions for researching the harmonized results of GWAS, including one of the largest, the GWAS-MAP platform. …”
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