Cosmic kidney disease: an integrated pan-omic, physiological and morphological study into spaceflight-induced renal dysfunction

Autor: Keith Siew, Kevin A. Nestler, Charlotte Nelson, Viola D’Ambrosio, Chutong Zhong, Zhongwang Li, Alessandra Grillo, Elizabeth R. Wan, Vaksha Patel, Eliah Overbey, JangKeun Kim, Sanghee Yun, Michael B. Vaughan, Chris Cheshire, Laura Cubitt, Jessica Broni-Tabi, Maneera Yousef Al-Jaber, Valery Boyko, Cem Meydan, Peter Barker, Shehbeel Arif, Fatemeh Afsari, Noah Allen, Mohammed Al-Maadheed, Selin Altinok, Nourdine Bah, Samuel Border, Amanda L. Brown, Keith Burling, Margareth Cheng-Campbell, Lorianna M. Colón, Lovorka Degoricija, Nichola Figg, Rebecca Finch, Jonathan Foox, Pouya Faridi, Alison French, Samrawit Gebre, Peter Gordon, Nadia Houerbi, Hossein Valipour Kahrood, Frederico C. Kiffer, Aleksandra S. Klosinska, Angela Kubik, Han-Chung Lee, Yinghui Li, Nicholas Lucarelli, Anthony L. Marullo, Irina Matei, Colleen M. McCann, Sayat Mimar, Ahmed Naglah, Jérôme Nicod, Kevin M. O’Shaughnessy, Lorraine Christine De Oliveira, Leah Oswalt, Laura Ioana Patras, San-huei Lai Polo, María Rodríguez-Lopez, Candice Roufosse, Omid Sadeghi-Alavijeh, Rebekah Sanchez-Hodge, Anindya S. Paul, Ralf Bernd Schittenhelm, Annalise Schweickart, Ryan T. Scott, Terry Chin Choy Lim Kam Sian, Willian A. da Silveira, Hubert Slawinski, Daniel Snell, Julio Sosa, Amanda M. Saravia-Butler, Marshall Tabetah, Erwin Tanuwidjaya, Simon Walker-Samuel, Xiaoping Yang, Yasmin, Haijian Zhang, Jasminka Godovac-Zimmermann, Pinaki Sarder, Lauren M. Sanders, Sylvain V. Costes, Robert A. A. Campbell, Fathi Karouia, Vidya Mohamed-Alis, Samuel Rodriques, Steven Lynham, Joel Ricky Steele, Sergio Baranzini, Hossein Fazelinia, Zhongquan Dai, Akira Uruno, Dai Shiba, Masayuki Yamamoto, Eduardo A.C.Almeida, Elizabeth Blaber, Jonathan C. Schisler, Amelia J. Eisch, Masafumi Muratani, Sara R. Zwart, Scott M. Smith, Jonathan M. Galazka, Christopher E. Mason, Afshin Beheshti, Stephen B. Walsh

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

Abstract Missions into Deep Space are planned this decade. Yet the health consequences of exposure to microgravity and galactic cosmic radiation (GCR) over years-long missions on indispensable visceral organs such as the kidney are largely unexplored

Externí odkaz: https://doaj.org/article/314b862fbe6c4c54a23cb008317e48c9

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

Autor: Joel T. Gibson, Omid Sadeghi-Alavijeh, Daniel P. Gale, Hansjörg Rothe, Genomics England Research Consortium, Judy Savige

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Abstract X-linked Alport syndrome is a genetic kidney disease caused by pathogenic COL4A5 variants, but little is known of the consequences of missense variants affecting the NC1 domain of the corresponding collagen IV α5 chain. This study examined

Externí odkaz: https://doaj.org/article/96c0043e8d0a42569e1be2e4cd114cf7

Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

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

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A rapid mechanical durability test for reinforced fuel cell membranes

Autor: Alireza Sadeghi Alavijeh, Sandeep Bhattacharya, Owen Thomas, Carmen Chuy, Erik Kjeang

Publikováno v: Journal of Power Sources Advances, Vol 2, Iss , Pp 100010- (2020)

An in situ accelerated mechanical stress test (ΔP-AMST) that applies relative humidity (RH) cycling combined with a pressure differential (ΔP) at a high temperature is proposed to accelerate mechanical degradation in all types of reinforced membran

Externí odkaz: https://doaj.org/article/1de7188d3b104c6390ac9126c2e8cce0