Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Nahid G. Robertson"'
Autor:
Richard Seist, Lukas D. Landegger, Nahid G. Robertson, Sasa Vasilijic, Cynthia C. Morton, Konstantina M. Stankovic
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Cochlin is the most abundant protein in the inner ear. To study its function in response to noise trauma, we exposed adolescent wild-type (Coch+/+) and cochlin knock-out (Coch–/–) mice to noise (8–16 kHz, 103 dB SPL, 2 h) that causes a permanen
Externí odkaz:
https://doaj.org/article/692f96d73a84469c8aa8a15f393cbbb6
Autor:
Katherine B Lucas, Joanne M O'Hara, Cynthia C. Morton, Bruce H. Horwitz, Donna L. Farber, Shorouk El Sayed, Izabel Patik, Nahid G. Robertson, Richard Malley, Evan Conaway, Claudette M. Thompson, Naresh Singh Redhu, Elaine Cheung, Muriel Herd
Publikováno v:
Mucosal Immunology. 13:172-182
The generation of tissue-resident memory T cells (TRM) is an essential aspect of immunity at mucosal surfaces, and it has been suggested that preferential generation of TRM is one of the principal advantages of mucosally administered vaccines. We hav
Autor:
Kristen E Wong, Jacqueline Fung, Andrea Lunardi, Kerry K. Brown, Pier Paolo Pandolfi, Andrew Ivanov, Yanbo Yin, Markus Reschke, Garrett T Wong, Nikolaos A. Patsopoulos, Robin E. Williamson, Ann E. Hickox, Sabina Signoretti, Kathleen S. Arnos, M. Charles Liberman, Ming Chen, Maura Bríd Cotter, Cynthia C. Morton, Nicholas A Sinnott-Armstrong, Tammy Kammin, Richard C Sallari, Benjamin Currall, Jun Shen, Nahid G. Robertson, Kathryn L. Penney, Cinthya J. Zepeda-Mendoza, Bradley J. Quade, Manolis Kellis, Alexander S. Banks
Publikováno v:
Human Molecular Genetics. 27:4194-4203
Great strides in gene discovery have been made using a multitude of methods to associate phenotypes with genetic variants, but there still remains a substantial gap between observed symptoms and identified genetic defects. Herein, we use the converge
Autor:
Surendra Dasari, Nicole J. Boczek, Cynthia C. Morton, Fang Zhou, Atreyee Basu, Nahid G. Robertson, Ellen D. McPhail, Daniel Jethanamest, Paul J. Kurtin, W. Edward Highsmith, Malinda L. Butz, Samih H. Nasr
Publikováno v:
Head Neck Pathol
Basu, A, Boczek, N J, Robertson, N G, Nasr, S H, Jethanamest, D, Mcphail, E D, Kurtin, P J, Dasari, S, Butz, M, Morton, C C, Highsmith, W E & Zhou, F 2020, ' First Report of Bilateral External Auditory Canal Cochlin Aggregates (“Cochlinomas”) with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin ', Head and Neck Pathology, vol. 14, no. 3, pp. 808-816 . https://doi.org/10.1007/s12105-019-01073-7
Basu, A, Boczek, N J, Robertson, N G, Nasr, S H, Jethanamest, D, Mcphail, E D, Kurtin, P J, Dasari, S, Butz, M, Morton, C C, Highsmith, W E & Zhou, F 2020, ' First Report of Bilateral External Auditory Canal Cochlin Aggregates (“Cochlinomas”) with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin ', Head and Neck Pathology, vol. 14, no. 3, pp. 808-816 . https://doi.org/10.1007/s12105-019-01073-7
Pathogenic variants in COCH, encoding cochlin, cause DFNA9 deafness disorder with characteristic histopathologic findings of cochlin deposits in the inner and middle ears. Here, we present the first case of deafness associated with bilateral external
Autor:
Joanne M, O'Hara, Naresh S, Redhu, Elaine, Cheung, Nahid G, Robertson, Izabel, Patik, Shorouk El, Sayed, Claudette M, Thompson, Muriel, Herd, Katherine B, Lucas, Evan, Conaway, Cynthia C, Morton, Donna L, Farber, Richard, Malley, Bruce H, Horwitz
Publikováno v:
Mucosal immunology
The generation of tissue-resident memory T cells (TRM) is an essential aspect of immunity at mucosal surfaces, and it has been suggested that preferential generation of TRM is one of the principal advantages of mucosally administered vaccines. We hav
Autor:
Jennifer T. O’Malley, Takefumi Kamakura, Joseph B. Nadol, Barbara J. Burgess, Nahid G. Robertson, Cynthia C. Morton, Kris Kristiansen
Publikováno v:
Audiology and Neurotology. 21:88-97
The histopathology of the inner ear in a patient with hearing loss caused by the p.L114P COCH mutation and its correlation with the clinical phenotype are presented. To date, 23 COCH mutations causative of DFNA9 autosomal dominant sensorineural heari
Autor:
Jennifer T. O’Malley, Cheng Ai Ong, Cynthia C. Morton, Nahid G. Robertson, Anne Giersch, Jun Shen, Konstantina M. Stankovic
Publikováno v:
Journal of the Association for Research in Otolaryngology. 15:961-974
DFNA9 sensorineural hearing loss and vestibular disorder, caused by mutations in COCH, has a unique identifying histopathology including prominent acellular deposits in cochlear and vestibular labyrinths. A recent study has shown presence of deposits
Autor:
Gert Vriend, Mária Trexler, Nahid G. Robertson, Hyun-Ju Cho, Beom Sik Kang, Cynthia C. Morton, László Patthy, Kyu Yup Lee, Hong Joon Park, Hanka Venselaar, Un Kyung Kim, Jeong In Baek
Publikováno v:
Journal of Molecular Medicine-Jmm, 90, 11, pp. 1321-1331
Journal of Molecular Medicine-Jmm, 90, 1321-1331
Journal of Molecular Medicine-Jmm, 90, 1321-1331
Item does not contain fulltext Mutations in COCH have been associated with autosomal dominant nonsyndromic hearing loss (DFNA9) and are frequently accompanied by vestibular hypofunction. Here, we report identification of a novel missense mutation, p.
Autor:
Barbara J, Burgess, Jennifer T, O'Malley, Takefumi, Kamakura, Kris, Kristiansen, Nahid G, Robertson, Cynthia C, Morton, Joseph B, Nadol
Publikováno v:
Audiologyneuro-otology. 21(2)
The histopathology of the inner ear in a patient with hearing loss caused by the p.L114P COCH mutation and correlation with the clinical phenotype are presented. To date, 23 COCH mutations causative of DFNA9 autosomal dominant sensorineural hearing l
Autor:
Shelly Given, M. Charles Liberman, Nahid G. Robertson, Sherri M. Jones, Cynthia C. Morton, Anne Giersch
Publikováno v:
Hearing Research. 272:42-48
Two mouse models, the Coch G88E/G88E or “knock-in” and the Coch −/− or “knock-out” ( Coch null), have been developed to study the human late-onset, progressive, sensorineural hearing loss and vestibular dysfunction known as DFNA9. This di