Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana

1988 ◽  
Vol 47 (1-2) ◽  
pp. 111-112 ◽  
Author(s):  
M.Z. Pelias ◽  
D.R. Lemoine ◽  
A.L. kossar ◽  
L.J. Ward ◽  
A.F. Wilson ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Linkage Studies ◽  
Syndrome Analysis

scholarly journals Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

2000 ◽  
Vol 67 (6) ◽  
pp. 1569-1574 ◽  
Author(s):  
Lisa M. Astuto ◽  
Michael D. Weston ◽  
Carol A. Carney ◽  
Denise M. Hoover ◽  
Cor W.R.J. Cremers ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Analysis

scholarly journals Usher proteins in inner ear structure and function

2013 ◽  
Vol 45 (21) ◽  
pp. 987-989 ◽  
Author(s):  
Zubair M. Ahmed ◽  
Gregory I. Frolenkov ◽  
Saima Riazuddin
Keyword(s):  
Inner Ear ◽  
Hair Cells ◽  
Molecular Mechanisms ◽  
Usher Syndrome ◽  
Structure And Function ◽  
Linkage Studies ◽  
And Function ◽  
Insight Into

Usher syndrome (USH) is a neurosensory disorder affecting both hearing and vision in humans. Linkage studies of families of USH patients, studies in animals, and characterization of purified proteins have provided insight into the molecular mechanisms of hearing. To date, 11 USH proteins have been identified, and evidence suggests that all of them are crucial for the function of the mechanosensory cells of the inner ear, the hair cells. Most USH proteins are localized to the stereocilia of the hair cells, where mechano-electrical transduction (MET) of sound-induced vibrations occurs. Therefore, elucidation of the functions of USH proteins in the stereocilia is a prerequisite to understanding the exact mechanisms of MET.

Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium

Genomics ◽  
1992 ◽  
Vol 14 (3) ◽  
pp. 707-714 ◽  
Author(s):  
Bronya J.B. Keats ◽  
Alexander A. Todorov ◽  
Larry D. Atwood ◽  
Mary Z. Pelias ◽  
J. Fielding Hejtmancik ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Linkage Studies ◽  
Usher Syndrome Type

Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese

Diabetes ◽  
1996 ◽  
Vol 45 (2) ◽  
pp. 267-269 ◽  
Author(s):  
N. Iwasaki ◽  
M. Kawamura ◽  
K. Yamagata ◽  
N. J. Cox ◽  
S. Karibe ◽  
...  
Keyword(s):  
Beta Cell ◽  
Microsatellite Markers ◽  
K Channel ◽  
Linkage Studies ◽  
Human Genes ◽  
Genes Encoding

Linkage studies of NIDDM with 23 chromosome 11 markers in a sample of whites of northern European descent

Diabetes ◽  
1996 ◽  
Vol 45 (3) ◽  
pp. 370-375 ◽  
Author(s):  
S. C. Elbein ◽  
K. L. Bragg ◽  
M. D. Hoffman ◽  
R. A. Mayorga ◽  
M. F. Leppert
Keyword(s):  
Linkage Studies ◽  
Chromosome 11 ◽  
European Descent ◽  
Northern European

Inheritance and Linkage Studies with Five Isozyme Loci in Soybean 1

Crop Science ◽  
1987 ◽  
Vol 27 (5) ◽  
pp. 885-892 ◽  
Author(s):  
Jeffrey Griffin ◽  
Reid G. Palmer
Keyword(s):  
Linkage Studies ◽  
Isozyme Loci

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

2021 ◽  
Author(s):  
M. Stemerdink ◽  
B. García-Bohórquez ◽  
R. Schellens ◽  
G. Garcia-Garcia ◽  
E. Van Wijk ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Usher Syndrome Type
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