Results 51 to 60 of about 62,782 (280)

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Macular Hole of the Left Eye in a 41-year-old Patient with Retinitis pigmentosa. A Case Report

Okulistyka
Retinitis pigmentosa is characterized by degeneration of the photoreceptors or retinal pigment epithelium and causes progressive vision loss. The disease can lead to night blindness, reduced field of vision and finally to complete loss of vision.
Bożena Kmak, Tomasz Siewierski, Anna Szot, Sebastian Sirek   +3 more
doaj   +1 more source

A novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration

Nature Communications, 2018
Mutations that lead to misfolding of rhodopsin can cause retinitis pigmentosa. Here, the authors carry out a high throughput screen to identify a small molecule chaperone of rod opsin, and show that it protects mouse models of retinitis pigmentosa from ...
Yuanyuan Chen, Yu Chen, Beata Jastrzebska, Marcin Golczak, Sahil Gulati, Hong Tang, William Seibel, Xiaoyu Li, Hui Jin, Yong Han, Songqi Gao, Jianye Zhang, Xujie Liu, Hossein Heidari-Torkabadi, Phoebe L. Stewart, William E. Harte, Gregory P. Tochtrop, Krzysztof Palczewski   +17 more
doaj   +1 more source

A flexible arched artificial photoreceptor constructed by photodeformable liquid crystal polymers and its application in vision restoration

Smart Molecules, EarlyView.
A flexible arched artificial photoreceptor with high stability and biocompatibility was fabricated by integrating liquid crystal polymers with polyvinylidene fluoride‐trifluoroethylene. This device exhibits robust photoelectric responses under low‐intensity illumination and demonstrates efficacy in restoring visual responses in blind rats following ...
Yumeng Jiang, Bo Peng, Jinyu Ma, Feng Pan, Jia Wei, Lang Qin, Cheng Sun, Yanlei Yu   +7 more
wiley   +1 more source

Amino acids in retinitis pigmentosa

Indian Journal of Ophthalmology, 1988
Retinitis pigmentosa may be associated with amino acid′ disorders; whether the association is incidental or consequential is not known. The present investigation on amino acids in retinitis pigmentosa indicates that the level of plasma amino acids
Singh M
doaj  

Relationship Between Foveal Cone Structure and Visual Acuity Measured With Adaptive Optics Scanning Laser Ophthalmoscopy in Retinal Degeneration. [PDF]

, 2018
PurposeTo evaluate foveal function in patients with inherited retinal degenerations (IRD) by measuring visual acuity (VA) after correction of higher-order aberrations.MethodsAdaptive optics scanning laser ophthalmoscopy (AOSLO) was used to image cones in
Duncan, Jacque L, Foote, Katharina G, Griffin, Shane, Loumou, Panagiota, Porco, Travis C, Qin, Jia, Ratnam, Kavitha, Roorda, Austin   +7 more
core  

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]

, 2004
CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
Anis, Miliea, Green, Kevin A., Hardie, D. Grahame, Hawley, Simon A., Norman, David G., Scott, John W., Scullion, Gillian A., Stewart, Greg   +7 more
core   +6 more sources

Retinal Hemodynamics in Retinitis Pigmentosa

American Journal of Ophthalmology, 1996
To investigate the retinal hemodynamic changes occurring in patients with retinitis pigmentosa (RP).Bidirectional laser Doppler velocimetry and monochromatic fundus photography were used to determine retinal venous diameter (D), maximum erythrocyte velocity (Vmax), and volumetric blood flow (Q) in the major retinal veins of eight patients with RP and ...
J E, Grunwald, A M, Maguire, J, Dupont
openaire   +2 more sources

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source