Genomic landscape of adult testicular germ cell tumours in the 100,000 Genomes Project

Autor: Máire Ní Leathlobhair, Anna Frangou, Ben Kinnersley, Alex J. Cornish, Daniel Chubb, Eszter Lakatos, Prabhu Arumugam, Andreas J. Gruber, Philip Law, Avraam Tapinos, G. Maria Jakobsdottir, Iliana Peneva, Atef Sahli, Evie M. Smyth, Richard Y. Ball, Rushan Sylva, Ksenija Benes, Dan Stark, Robin J. Young, Alexander T. J. Lee, Vincent Wolverson, Richard S. Houlston, Alona Sosinsky, Andrew Protheroe, Matthew J. Murray, David C. Wedge, Clare Verrill, Testicular Cancer Genomics England Clinical Interpretation Partnership Consortium, Genomics England Research Consortium

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)

Abstract Testicular germ cell tumours (TGCT), which comprise seminoma and non-seminoma subtypes, are the most common cancers in young men. In this study, we present a comprehensive whole genome sequencing analysis of adult TGCTs. Leveraging samples f

Externí odkaz: https://doaj.org/article/3166ff5b046047609d385f398ae3f157

In Vitro Electrochemical Detection of Hydrogen Peroxide in Activated Macrophages via a Platinum Microelectrode Array

Autor: Victor M. Carriere, Jolin P. Rodrigues, Chao Tan, Prabhu Arumugam, Scott Poh

Publikováno v: Sensors, Vol 21, Iss 16, p 5607 (2021)

Oxidative stress, an excess of endogenous or exogenous reactive oxygen species (ROS) in the human body, is closely aligned with inflammatory responses. ROS such as hydrogen peroxide (H2O2), superoxide, and radical hydroxyl ions serve essential functi

Externí odkaz: https://doaj.org/article/7e43798b7c194defa1aafcedf7df45a1

Vanadium doped beta-Ga2O3 single crystals: Growth, Optical and Terahertz characterization

Autor: Narayanan, Maneesha, Punjal, Ajinkya, Hossain, Emroj, Choudhary, Shraddha, Kulkarni, Ruta, Thamizhavel, S S Prabhu Arumugam, Bhattacharya, Arnab

We report the growth of electrically-resistive vanadium-doped beta-Ga2O3 single crystals via the optical floating zone technique. By carefully controlling the growth parameters V-doped crystals with very high electrical resistivity compared to the us

Externí odkaz: http://arxiv.org/abs/2203.04941

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

Autor: Prabhu Arumugam, Anthony McGuigan, James Whitworth, Marta Bleda, Arianna Tucci, Tom Fowler, Avgi Andreou

Publikováno v: European Journal of Human Genetics. 30:265-270

Multi-locus Inherited Neoplasia Allele Syndrome (MINAS) refers to individuals with germline pathogenic variants in two or more cancer susceptibility genes(CSGs). With increased use of exome/genome sequencing it would be predicted that detection of MI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bef0d79a77019eadbe06a8f6981f2065
https://doi.org/10.1038/s41431-021-01013-6

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Autor: Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, Henrietta Lefroy, Bruce Castle, Linda M. Reis, Elena V. Semina, Katherine Lachlan, Kate Chandler, Thomas Wright, Jill Clayton-Smith, Franziska Phan Hug, Nelly Pitteloud, Lucia Bartoloni, Sabine Hoffjan, Soo-Mi Park, Ajay Thankamony, Melissa Lees, Emma Wakeling, Swati Naik, Britta Hanker, Katta M. Girisha, Emanuele Agolini, Zampino Giuseppe, Ziegler Alban, Marine Tessarech, Boris Keren, Alexandra Afenjar, Christiane Zweier, Andre Reis, Thomas Smol, Yoshinori Tsurusaki, Okamoto Nobuhiko, Futoshi Sekiguchi, Naomi Tsuchida, Naomichi Matsumoto, Ikuyo Kou, Yoshiro Yonezawa, Shiro Ikegawa, Bert Callewaert, Megan Freeth, Lotte Kleinendorst, Alan Donaldson, Marielle Alders, Anne De Paepe, Bekim Sadikovic, Alisdair McNeill, Deborah Nickerson, Michael Bamshad, Suzanne Leal, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, null FionaMaleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, null TahrimaRahim, Augusto Rendon, null TimRogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

Publikováno v: Genetics in medicine, 24(6), 1261-1273. Lippincott Williams and Wilkins
GENETICS IN MEDICINE
Genet Med

Purpose: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. Methods: Individuals with protein altering variants in SOX11 were identified through exome and genome sequencing and internat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158b0e320e882cf61f6d36ec60d62c1a