The retinal pigment epithelium in visual function
O Strauss - Physiological reviews, 2005 - journals.physiology.org
Located between vessels of the choriocapillaris and light-sensitive outer segments of the
photoreceptors, the retinal pigment epithelium (RPE) closely interacts with photoreceptors in …
photoreceptors, the retinal pigment epithelium (RPE) closely interacts with photoreceptors in …
Endocytosis and signaling: cell logistics shape the eukaryotic cell plan
S Sigismund, S Confalonieri, A Ciliberto… - Physiological …, 2012 - journals.physiology.org
Our understanding of endocytosis has evolved remarkably in little more than a decade. This
is the result not only of advances in our knowledge of its molecular and biological workings …
is the result not only of advances in our knowledge of its molecular and biological workings …
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
J Reiners, K Nagel-Wolfrum, K Jürgens, T Märker… - Experimental eye …, 2006 - Elsevier
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
ZM Ahmed, S Riazuddin, J Ahmad… - Human molecular …, 2003 - academic.oup.com
Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are
known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F) …
known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F) …
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
X Liu, OV Bulgakov, KN Darrow… - Proceedings of the …, 2007 - National Acad Sciences
Usher syndrome type IIA (USH2A), characterized by progressive photoreceptor
degeneration and congenital moderate hearing loss, is the most common subtype of Usher …
degeneration and congenital moderate hearing loss, is the most common subtype of Usher …
An update on the genetics of usher syndrome
JM Millán, E Aller, T Jaijo, F Blanco-Kelly… - Journal of …, 2011 - Wiley Online Library
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss,
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …
Usher syndrome: molecular links of pathogenesis, proteins and pathways
H Kremer, E van Wijk, T Märker… - Human molecular …, 2006 - academic.oup.com
Usher syndrome is the most common form of deaf-blindness. The syndrome is both clinically
and genetically heterogeneous, and to date, eight causative genes have been identified …
and genetically heterogeneous, and to date, eight causative genes have been identified …
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
T Maerker, E van Wijk, N Overlack… - Human molecular …, 2008 - academic.oup.com
The human Usher syndrome (USH) is the most frequent cause of combined deaf–blindness.
USH is genetically heterogeneous with at least 12 chromosomal loci assigned to three …
USH is genetically heterogeneous with at least 12 chromosomal loci assigned to three …
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with …
E Van Wijk, RJE Pennings, H te Brinke… - The American Journal of …, 2004 - cell.com
The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most
common subtype of Usher syndrome and is characterized by hearing loss and retinitis …
common subtype of Usher syndrome and is characterized by hearing loss and retinitis …
RFX transcription factors are essential for hearing in mice
R Elkon, B Milon, L Morrison, M Shah… - Nature …, 2015 - nature.com
Sensorineural hearing loss is a common and currently irreversible disorder, because
mammalian hair cells (HCs) do not regenerate and current stem cell and gene delivery …
mammalian hair cells (HCs) do not regenerate and current stem cell and gene delivery …