Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

Autor: Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke, Alejandro Ferrer, Filippo Pinto e Vairo, Rory J Olson, Gavin R Oliver, Lindsay A Mulvihill, Garrett Jenkinson, Eric W Klee

Publikováno v: BMC Genomics, Vol 25, Iss 1, Pp 1-16 (2024)

Abstract Background X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential inactivation of either t

Externí odkaz: https://doaj.org/article/7c3188a7d01b477aa61d1fc1deab8a2f

Ground-based Ku-band microwave observations of ozone in the polar middle atmosphere

Autor: D. A. Newnham, M. A. Clilverd, W. D. J. Clark, M. Kosch, P. T. Verronen, A. E. E. Rogers

Publikováno v: Atmospheric Measurement Techniques, Vol 15, Pp 2361-2376 (2022)

Ground-based observations of 11.072 GHz atmospheric ozone (O3) emission have been made using the Ny-Ålesund Ozone in the Mesosphere Instrument (NAOMI) at the UK Arctic Research Station (latitude 78∘55′0′′ N, longitude 11∘55′59′′ E),

Externí odkaz: https://doaj.org/article/025cab92bec8459ba73c7bc00696fac5

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Autor: Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH s

Externí odkaz: https://doaj.org/article/669f0574667343e2aba272d086c020c6

A Five Year Randomized Controlled Trial to Assess the Efficacy and Antibody Responses to a Commercial and Autogenous Vaccine for the Prevention of Infectious Bovine Keratoconjunctivitis

Autor: Matthew M. Hille, Matthew L. Spangler, Michael L. Clawson, Kelly D. Heath, Hiep L. X. Vu, Rachel E. S. Rogers, John Dustin Loy

Publikováno v: Vaccines, Vol 10, Iss 6, p 916 (2022)

A randomized control trial was performed over a five-year period to assess the efficacy and antibody response induced by autogenous and commercial vaccine formulations against infectious bovine keratoconjunctivitis (IBK). Calves were randomly assigne

Externí odkaz: https://doaj.org/article/28f7ab7ae6b94016a94d056960f9ae3b

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

Autor: Gavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, Noemi Vidal-Folch, W Garrett Jenkinson, Tanya L Schwab, Krutika Gaonkar, Margot A Cousin, Asha Nair, Shubham Basu, Pritha Chanana, Devin Oglesbee, Eric W Klee

Publikováno v: PLoS ONE, Vol 14, Iss 10, p e0223337 (2019)

BackgroundRNA sequencing has been proposed as a means of increasing diagnostic rates in studies of undiagnosed rare inherited disease. Recent studies have reported diagnostic improvements in the range of 7.5-35% by profiling splicing, gene expression

Externí odkaz: https://doaj.org/article/6c7e2699270f4cb5b151c5c23ddbbbcc