Zobrazeno 1 - 10
of 390
pro vyhledávání: '"William G Newman"'
Autor:
Filipa M Lopes, Celine Grenier, Benjamin W Jarvis, Sara Al Mahdy, Adrian Lène-McKay, Alison M Gurney, William G Newman, Simon N Waddington, Adrian S Woolf, Neil A Roberts
Publikováno v:
eLife, Vol 13 (2024)
Rare early-onset lower urinary tract disorders include defects of functional maturation of the bladder. Current treatments do not target the primary pathobiology of these diseases. Some have a monogenic basis, such as urofacial, or Ochoa, syndrome (U
Externí odkaz:
https://doaj.org/article/c7e0ce9ab0724cbca7d1f7f2cbe62eae
Autor:
Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Juan Antonio Aguilar‐Pimentel, Oana V Amarie, Lore Becker, Catherine Breen, Julia Calzada‐Wack, Nirav F Chhabra, Yi‐Li Cho, Patricia da Silva‐Buttkus, René G Feichtinger, Kristine Gampe, Lillian Garrett, Kai P Hoefig, Sabine M Hölter, Elisabeth Jameson, Tanja Klein‐Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer‐Kuckuk, Gregor Miller, Manuela A Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H Walter, Wolfgang Wurst, Johannes A Mayr, Helmut Fuchs, Ulrich Gärtner, Ilka Wittig, Robert W Taylor, William G Newman, Holger Prokisch, Valerie Gailus‐Durner, Martin Hrabě de Angelis
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 12, Pp 1-19 (2021)
Abstract Mitochondrial disorders are clinically and genetically diverse, with isolated complex III (CIII) deficiency being relatively rare. Here, we describe two affected cousins, presenting with recurrent episodes of severe lactic acidosis, hyperamm
Externí odkaz:
https://doaj.org/article/341f02162d414b2e9fd51d3fc242e6ba
Autor:
Melanie MY Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, Alina C Hilger, Horia C Stanescu, Catalin D Voinescu, Glenda M Beaman, William G Newman, Marcin Zaniew, Stefanie Weber, Yee Mang Ho, John O Connolly, Dan Wood, Carlo Maj, Alexander Stuckey, Athanasios Kousathanas, Genomics England Research Consortium, Robert Kleta, Adrian S Woolf, Detlef Bockenhauer, Adam P Levine, Daniel P Gale
Publikováno v:
eLife, Vol 11 (2022)
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in 132 unrelat
Externí odkaz:
https://doaj.org/article/b936c97484754cea89d1fbd490886997
Autor:
Sam Hodgson, Qin Qin Huang, Neneh Sallah, Genes & Health Research Team, Chris J Griffiths, William G Newman, Richard C Trembath, John Wright, R Thomas Lumbers, Karoline Kuchenbaecker, David A van Heel, Rohini Mathur, Hilary C Martin, Sarah Finer
Publikováno v:
PLoS Medicine, Vol 19, Iss 5, p e1003981 (2022)
BackgroundType 2 diabetes (T2D) is highly prevalent in British South Asians, yet they are underrepresented in research. Genes & Health (G&H) is a large, population study of British Pakistanis and Bangladeshis (BPB) comprising genomic and routine heal
Externí odkaz:
https://doaj.org/article/62845c8652514e528a945b09500a0c31
Autor:
Richard Body, Mark A Turner, William G Newman, Paul Wilson, John Henry McDermott, Gino Miele, Peter Roberts, Fiona Ulph, Iain Bruce, Rhona MacLeod, Shaun Ainsworth, Rachel Mahood, Duncan Stoddard, Ajit Mahaveer, Rachel Corry, Julia Garlick, Laura Kemp, Karen Harvey, Nicola Booth
Publikováno v:
BMJ Open, Vol 11, Iss 6 (2021)
Introduction In conjunction with a beta-lactam, aminoglycosides are the first-choice antibiotic for empirical treatment of sepsis in the neonatal period. The m.1555A>G variant predisposes to ototoxicity after aminoglycoside administration and has a p
Externí odkaz:
https://doaj.org/article/53288dbec591463faeeb9dd4457cb49a
Autor:
Jamie M Ellingford, Ryan George, John H McDermott, Shazaad Ahmad, Jonathan J Edgerley, David Gokhale, William G Newman, Stephen Ball, Nicholas Machin, Graeme CM Black
Publikováno v:
eLife, Vol 10 (2021)
Understanding the effectiveness of infection control methods in reducing and preventing SARS-CoV-2 transmission in healthcare settings is of high importance. We sequenced SARS-CoV-2 genomes for patients and healthcare workers (HCWs) across multiple g
Externí odkaz:
https://doaj.org/article/ccd0a2e9674f422e9315dcf5926a5603
Autor:
Sara T Ibrahim, Rajkumar Chinnadurai, Ibrahim Ali, Debbie Payne, Gillian I Rice, William G Newman, Eman Algohary, Ahmed G Adam, Philip A Kalra
Publikováno v:
PLoS ONE, Vol 15, Iss 1, p e0228101 (2020)
OBJECTIVES:The R102G variant in complement 3 (C3) results in two allotypic variants: C3 fast (C3F) and C3 slow (C3S). C3F presents at increased frequency in patients with chronic kidney disease (CKD), our aim is to explore its role in CKD progression
Externí odkaz:
https://doaj.org/article/27f43b2386444bf9937d27d89eb03dab
Autor:
Katherine A Wood, Charlie F Rowlands, Huw B Thomas, Steven Woods, Julieta O'Flaherty, Sofia Douzgou, Susan J Kimber, William G Newman, Raymond T O'Keefe
Publikováno v:
PLoS ONE, Vol 15, Iss 7, p e0233582 (2020)
The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messenger RNA splicing factor gene TXNL4A/DIB1. The majority of affected individuals with BMKS have a 34 base pair deletion in the promote
Externí odkaz:
https://doaj.org/article/c678571fe6ac444081dd9b958bc2912b
Autor:
Lynn Cotterill, Debbie Payne, Scott Levison, John McLaughlin, Emma Wesley, Mark Feeney, Hilary Durbin, Simon Lal, Alistair Makin, Simon Campbell, Stephen A Roberts, Catherine O’Neill, Cathryn Edwards, William G Newman
Publikováno v:
Canadian Journal of Gastroenterology, Vol 24, Iss 5, Pp 297-302 (2010)
BACKGROUND/OBJECTIVE: Variants in the interleukin-23 receptor (IL23R) and the autophagy-related 16-like 1 (ATG16L1) genes have been associated with an increased risk of Crohn’s disease (CD). Both genes were identified through genome-wide associatio
Externí odkaz:
https://doaj.org/article/68b1b0ae1634482b969786da1490966c
Autor:
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing lo
Externí odkaz:
https://doaj.org/article/85a622f2d8104bbe96b80ab1bc1bbc10