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USHER SYNDROME, TYPE ID

Known as: USH1D 
National Institutes of Health

Related topics

Related topics

5 relations
Autosomal recessive inheritanceCDH23 wt AlleleCDH23, GLN1496HISRetinitis Pigmentosa

Broader (1)

Usher Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss
Hereditary hearing loss is a heterogeneous group of complex disorders with an overall incidence of one in every 500 newborns… 
2011
2011
HERAPEUTIC S TRATEGIES FOR H UMAN U SHER S YNDROME
The human Usher syndrome (USH) is the most frequent cause of combined deafblindness in man. It is clinically and genetically… 
Review
2009
Review
2009
The role of cadherins in sensory cell function
In vertebrate sensory cells of the eye and the inner ear a group of nonclassical cadherins, namely cadherin 23 (CDH23… 
2006
2006
Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region
BUS/Idr mice carrying a mutant waltzer allele (vbus) are characterized by splayed hair bundles in inner ear sensory cells… 
2006
2006
Ush1c: expression and interactions in the retina.
Usher syndrome is an autosomal recessive disease, displaying pathology of the auditory and visual systems. The three clinical… 
Highly Cited
2005
Highly Cited
2005
Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).
PURPOSE The human Usher syndrome (USH) is the most common form of deaf-blindness. Usher type I (USH1), the most severe form, is… 
2003
2003
The molecular genetics of Usher syndrome
Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the… 
Review
2002
Review
2002
Role of cadherins in Ca2+-mediated cell adhesion and inherited photoreceptor degeneration.
Cadherins are Ca2+-binding, transmembrane proteins involved in cell adhesion. Recently, three cadherin molecules, cadherin-23… 
2001
2001
Haplotype analysis of the USH1D locus and genotype–phenotype correlations
Usher syndrome (USH) is characterised by hearing impairment and progressive pigmentary retinopathy. USH can be divided into three… 
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