Zobrazeno 1 - 10
of 1 122
pro vyhledávání: '"Richard J.H. Smith"'
Autor:
Jin-Young Koh, Corentin Affortit, Paul T. Ranum, Cody West, William D. Walls, Hidekane Yoshimura, Jian Q. Shao, Brian Mostaert, Richard J.H. Smith
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-17 (2023)
Abstract Background The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly characterized. Therefo
Externí odkaz:
https://doaj.org/article/69b39b5275134f77bb652356de04ec38
Autor:
Ryotaro Omichi, Hidekane Yoshimura, Seiji B. Shibata, Luk H. Vandenberghe, Richard J.H. Smith
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1167-1177 (2020)
Gene delivery is a key component for the treatment of genetic hearing loss. To date, a myriad of adeno-associated virus (AAV) serotypes and surgical approaches have been employed to deliver transgenes to cochlear hair cells, but the efficacy of dual
Externí odkaz:
https://doaj.org/article/7ae20ee039424923896825eff258dae2
Autor:
Renato Cesar Ferreira da Silva, MD, Scott M. Lieberman, MD, PhD, Henry T. Hoffman, MD, Bruno Policeni, MBA, MD, Amani Bashir, MBBS, Richard J.H. Smith, MD, T. Shawn Sato, MD
Publikováno v:
Radiology Case Reports, Vol 12, Iss 1, Pp 196-199 (2017)
Immunoglobulin G4–related disease (IgG4RD) is an immune-mediated condition characterized by lymphoplasmacytic infiltrates and fibrosis of affected organs. IgG4RD may affect many different organs either individually or together in a multiorgan condi
Externí odkaz:
https://doaj.org/article/d360f4a61d03425cb6d60f4d9875fa10
Autor:
Paul T. Ranum, Alexander T. Goodwin, Hidekane Yoshimura, Diana L. Kolbe, William D. Walls, Jin-Young Koh, David Z.Z. He, Richard J.H. Smith
Publikováno v:
Cell Reports, Vol 26, Iss 11, Pp 3160-3171.e3 (2019)
Summary: Single-cell RNA sequencing is a powerful tool by which to characterize the transcriptional profile of low-abundance cell types, but its application to the inner ear has been hampered by the bony labyrinth, tissue sparsity, and difficulty dis
Externí odkaz:
https://doaj.org/article/af90a17b3c9544a4ace3d6b0953e94c7
Autor:
Lut Van Laer, Markus Pfister, Sofie Thys, Karen Vrijens, Marcus Mueller, Lieve Umans, Lutgarde Serneels, Luc Van Nassauw, Frank Kooy, Richard J.H. Smith, Jean-Pierre Timmermans, Fred Van Leuven, Guy Van Camp
Publikováno v:
Neurobiology of Disease, Vol 19, Iss 3, Pp 386-399 (2005)
A complex mutation in DFNA5, resulting in exon 8 skipping, causes autosomal dominant hearing impairment, which starts in the high frequencies between 5 and 15 years of age and progressively affects all frequencies. To study its function in vivo, Dfna
Externí odkaz:
https://doaj.org/article/6ee8f17ce2b349d3973f858625b9fcf8
Autor:
Minnie M. Sarwal, Nicole Arceneaux, Jonathan Barratt, Mark D. Stegall, Christine B. Sethna, Debbie S. Gipson, Shadab Ali, Richard J.H. Smith, Matthew C. Pickering, Lindsey Fuller, Brad H. Rovin, Ashley Frazer-Abel, Carla M. Nester, Rasheed Gbadegesin, Fernando C. Fervenza, Gerald B. Appel, Samir V. Parikh, Daniel C. Cattran, Véronique Frémeaux-Bacchi, Cathie Spino, Sanjay Ram, Pierre Ronco, Laura Bailey-Wickins, Paolo Cravedi, Jonathan J. Hogan, Joshua M. Thurman, Laurence H. Beck, John D. Mahan, Marina Vivarelli, Isa Ashoor, Michelle N. Rheault, Elif Erkan, David L. Feldman, Richard J. Quigg, Richard A. Lafayette, Peter S. Heeger, Andrew S. Bomback, Moglie le Quintrec-Donnette, Michelle A. Hladunewich, Christoph Licht, Krzysztof Kiryluk, Howard Trachtman
Publikováno v:
American Journal of Kidney Diseases. 79:570-581
Blocking the complement system as a therapeutic strategy has been proposed for numerous glomerular diseases but presents a myriad of questions and challenges, not the least of which is demonstrating efficacy and safety. In light of these potential is
Autor:
Katherine M. Rodriguez, Jordan Vaught, Michelle Dilley, Kataryzna Ellsworth, Alaina Heinen, Edsel M. Abud, Yuzhou Zhang, Richard J.H. Smith, Robert Sheets, Bob Geng, Hal M. Hoffman, H. Michael Worthen, David Dimmock, Nicole G. Coufal
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infancy. We rep
Autor:
Kristen L Seligman, Marlan R. Hansen, Kathy L. Frees, A. Eliot Shearer, Diana L. Kolbe, Bruce J. Gantz, Carla Nishimura, Camille C. Dunn, Richard J.H. Smith
Publikováno v:
Otolaryngol Head Neck Surg
Understanding genetic causes of hearing loss can determine the pattern and course of a patient’s hearing loss and may also predict outcomes after cochlear implantation. Our goal in this study was to evaluate genetic causes of hearing loss in a larg
Autor:
Christopher K. Johnson, Tejaswini Dhawale, Yuzhou Zhang, Sandra Carias Zuniga, Christopher D. Blosser, Richard J.H. Smith
Publikováno v:
Kidney International Reports
Autor:
Tristan Rey, Abigail Williams, Carla Nishimura, Kirsty McWalter, Alex Cummings, Agnès Bloch-Zupan, Francesca Clementina Radio, Bruno Dallapiccola, Dusica Babovic-Vuksanovic, Maria Lisa Dentici, Emanuele Agolini, Filippo Vairo, J. Austin Hamm, Jennifer A. Sullivan, Kelly Schoch, Brendan C. Lanpher, Chelsea Roadhouse, Ingrid M. Wentzensen, Richard J.H. Smith, Alejandro Ferrer, Arun Ankala, Chumei Li, Sara Loddo, Bradley Bowles, Dario Cocciadiferro, Bénédicte Gérard, Nicholas Stong, Eric W. Klee, Silvia Genovese, Vandana Shashi, Bruno Leheup
Publikováno v:
American Journal of Medical Genetics. Part a
Biallelic loss‐of‐function variants in the thrombospondin‐type laminin G domain and epilepsy‐associated repeats (TSPEAR) gene have recently been associated with ectodermal dysplasia and hearing loss. The first reports describing a TSPEAR dise