[HTML][HTML] Deafness: from genetic architecture to gene therapy
Progress in deciphering the genetic architecture of human sensorineural hearing
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …
[HTML][HTML] Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities
Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic
cause of combined hearing and vision loss. USH is classified into three types, based on the …
cause of combined hearing and vision loss. USH is classified into three types, based on the …
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
[HTML][HTML] Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c
B Pan, C Askew, A Galvin, S Heman-Ackah… - Nature …, 2017 - nature.com
Because there are currently no biological treatments for hearing loss, we sought to advance
gene therapy approaches to treat genetic deafness. We focused on Usher syndrome, a …
gene therapy approaches to treat genetic deafness. We focused on Usher syndrome, a …
[HTML][HTML] Initial sequencing and analysis of the human genome
US DOE Joint Genome Institute: Hawkins Trevor 4 … - Nature, 2001 - nature.com
The human genome holds an extraordinary trove of information about human development,
physiology, medicine and evolution. Here we report the results of an international …
physiology, medicine and evolution. Here we report the results of an international …
Shaping the intestinal brush border
SW Crawley, MS Mooseker, MJ Tyska - Journal of Cell Biology, 2014 - rupress.org
Epithelial cells from diverse tissues, including the enterocytes that line the intestinal tract,
remodel their apical surface during differentiation to form a brush border: an array of actin …
remodel their apical surface during differentiation to form a brush border: an array of actin …
PDZ domains: structural modules for protein complex assembly
AY Hung, M Sheng - Journal of Biological Chemistry, 2002 - ASBMB
PDZ domains1 are modular protein interaction domains that play a role in protein targeting
and protein complex assembly. Once termed Discs-large homology regions (DHRs) or …
and protein complex assembly. Once termed Discs-large homology regions (DHRs) or …
Congenital hyperinsulinism: current trends in diagnosis and therapy
JB Arnoux, V Verkarre, C Saint-Martin… - Orphanet journal of rare …, 2011 - Springer
Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-
cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live …
cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live …
addendum: A universal scaling law for atomic diffusion in condensed matter
M Dzugutov - Nature, 2001 - nature.com
The human genome holds an extraordinary trove of information about human development,
physiology, medicine and evolution. Here we report the results of an international …
physiology, medicine and evolution. Here we report the results of an international …
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
JM Bork, LM Peters, S Riazuddin, SL Bernstein… - The American Journal of …, 2001 - cell.com
Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness
associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously …
associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously …