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

Get full text

Nature and Nurture of Human Pain by Inna Belfer

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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. …”
Get full text

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

Get full text

Validation of the detection of elder abuse through emergency care technicians (DETECT) screening tool: a study protocol by Melvin D Livingston, Brad Cannell, Julie Weitlauf, Jason Burnett, Megin Parayil, Jennifer Reingle Gonzalez

Get full text

Genetic Characteristics of the Rat Fibroblast Cell Line Rat-1 by Thomas Liehr, Stefanie Kankel, Eva Miriam Buhl, Sarah K. Schröder-Lange, Ralf Weiskirchen

Get full text

DNA Measurement of Overlapping Cell Nuclei in Thick Tissue Sections by Liang Ji, James Tucker

Get full text

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

Get full text

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. …”
Get full text

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. …”
Get full text

Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome by Marina Araújo Fonzar Hernandes, Terezinha de Jesus Marques-Salles, Hasmik Mkrtchyan, Eliane Maria Soares-Ventura, Edinalva Pereira Leite, Maria Tereza Cartaxo Muniz, Maria Teresa Marquim Nogueira Cornélio, Thomas Liehr, Neide Santos, Maria Luiza Macedo Silva

Get full text

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia by A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Remko Hersmus, Frank H. de Jong, Renske Olmer, Hennie T. Bruggenwirth, Axel P. N. Themmen, Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Sultana M. H. Faradz, Stenvert L. S. Drop

Get full text

Mesenchymal stem cell‐derived exosomes mitigate amyloid β‐induced retinal toxicity: Insights from rat model and cellular studies by Amanda Qarawani, Efrat Naaman, Rony Ben‐Zvi Elimelech, Michal Harel, Shahaf Sigal‐Dror, Tali Ben‐Zur, Tamar Ziv, Daniel Offen, Shiri Zayit‐Soudry

Get full text

Wharton’s Jelly-Derived Mesenchymal Stromal Cells and Fibroblast-Derived Extracellular Matrix Synergistically Activate Apoptosis in a p21-Dependent Mechanism in WHCO1 and MDA MB 23... by Kevin Dzobo, Matjaz Vogelsang, Nicholas E. Thomford, Collet Dandara, Karlien Kallmeyer, Michael S. Pepper, M. Iqbal Parker

Get full text

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report by Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt

Get full text

Preparation and evaluation of Brucella T4SS recombinant proteins in serodiagnosis of human brucellosis based on TMT-based proteomics technology by Qi Wu, Chen Sun, Liping Guo, Yujia Xie, Jinpeng Zhang, Jinpeng Zhang, Dehui Yin, Dehui Yin

Get full text