Results 21 to 30 of about 33,870 (219)

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype [PDF]

International Journal of Ophthalmology, 2016
AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation.
Shamim Saleha, Muhammad Ajmal, Muhammad Jamil   +2 more
doaj   +1 more source

A very rare association of fuchs heterochromic uveitis and ectropion uvea in usher syndrome

Advanced Biomedical Research, 2021
Usher syndrome is a heterogeneous genetic disease that is the most common cause of hereditary blindness–deafness. This syndrome is the most prevalent syndrome associated with retinitis pigmentosa.
Leila Rezaei, Rashed Ahmadyani
doaj   +1 more source

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus. [PDF]

, 2013
Usher 1 patients are born profoundly deaf and then develop retinal degeneration. Thus they are readily identified before the onset of retinal degeneration, making gene therapy a viable strategy to prevent their blindness.
Boye, S, Boye, SE, Chiodo, V, Dyka, F, Fofo, H, Hauswirth, WW, Lopes, VS, Louie, CM, Williams, DS   +8 more
core   +1 more source

A Novel Antigen Sensitive to Calcium Chelation That is Associated with the Tip Links and Kinocilial Links of Sensory Hair Bundles [PDF]

, 2003
Tip links are extracellular, cell-surface-associated filaments of unknown molecular composition that are thought to gate the mechanotransducer channel of the sensory hair cell.
Goodyear, Richard J, Richardson, Guy P
core   +2 more sources

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report

BMC Ophthalmology, 2020
Background Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features.
Dongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li, Xiaorong Li   +6 more
doaj   +1 more source

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15 [PDF]

, 2006
Sound and acceleration are detected by hair bundles, mechanosensory structures located at the apical pole of hair cells in the inner ear. The different elements of the hair bundle, the stereocilia and a kinocilium, are interconnected by a variety of link
Ahmed, Zubair M, Behra, Martine, Belyantseva, Inna A, Burgess, Shawn M, Friedman, Thomas B, Frolenkov, Gregory I, Goodyear, Richard, Griffith, Andrew J, Lagziel, Ayala, Legan, P Kevin, Lilley, Kathryn S, Riazuddin, Saima, Riazuddin, Sheikh, Richardson, Guy P, Wilcox, Edward R   +14 more
core   +2 more sources

Clinical aspects of usher syndrome and the USH2A gene in a cohort of 433 patients [PDF]

, 2015
IMPORTANCE A new statistical approach is needed to describe the clinical differences between type I and type II Usher syndrome and between the 2 most frequent mutations in the USH2A gene.
Aller, Elena, Avila-Fernandez, Almudena, Ayuso, Carmen, Blanco-Kelly, Fiona, García-Sandoval, Blanca, Giménez, Ascensión, Jaijo, Teresa, López-Molina, María Isabel, Millán, José M.   +8 more
core   +2 more sources

Myosin VIIA is required for aminoglycoside accumulation in cochlear hair cells. [PDF]

, 1997
Myosin VIIA is expressed by sensory hair cells and has a primary structure predicting a role in membrane trafficking and turnover, processes that may underlie the susceptibility of hair cells to aminoglycoside antibiotics. [3H]Gentamicin accumulation and
Brown, S D M, Fleming, J, Forge, A, Kros, C J, Richardson, G P, Steel, K P   +5 more
core   +2 more sources

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed, Ayyagari, Radha, Cabrera, Patricia E, Chen, Jianjun, Chen, Yabin, Govindarajan, Gowthaman, Gupta, Nikhil, Hejtmancik, J Fielding, Huang, Li, Jiang, Dan, Jiao, Xiaodong, Jin, Chongfei, Khan, Shaheen N, Li, Jiali, Li, Lin, M'hamdi, Oussama, Ma, Xiaoyin, Ma, Yan, Ma, Zhiwei, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Sieving, Paul A, Sun, Wenmin, Tanwar, Mukesh   +24 more
core   +1 more source

Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes) [PDF]

, 2013
Patients suffering from Usher syndrome (USH) exhibit sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction.
A Adato, A Caron, A Garcia-España, A Krogh, A Marchler-Bauer, AJ Ross, Ana V. Sánchez-Sánchez, Antonio García-España, AV Sánchez-Sánchez, B Dreyer, B Lu, C Combet, C Petit, C Rivolta, C Seiler, C Söllner, D Baux, DS Williams, E Aller, E Camp, E vanWijk, Elena Aller, Filippo Del Bene, G Garcia-Garcia, G Glover, Gema García-García, H Khanna, H Khanna, H Yokoi, I Ebermann, I Ebermann, J van Reeuwijk, J Wittbrodt, Javier U. Chicote, JB Phillips, JD Eudy, JL Badano, JM Millán, José L. Mullor, José M. Millán, Laura Cavallé, M Furutani-Seiki, Manuel Díaz-Llopis, Marina Piquer-Gil, MD Weston, N Pearsall, NH Putnam, Patricia Udaondo, RP Tucker, S Ernest, S Riazuddin, T Iwamatsu, T Maerker, TN Petersen, X Liu, X Shu, X Shu, Y Gibert, Y Hyodo-Taguchi   +58 more
core   +8 more sources