Results 21 to 30 of about 1,104 (159)

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies [PDF]

Journal of Medical Genetics, 2001
Guanylate cyclase (retGC-1) is a key enzyme in the recovery phase of phototransduction in both cone and rod photoreceptor cells.1 Upon excitation by a photon of light, an enzymatic cascade of events occurs which leads to the hydrolysis of cGMP and the closure of the cGMP gated cation channels.
Alex G. Morris, Susan M. Downes, Anthony T. Moore, David M. Hunt, Samantha Johnson, Shomi S. Bhattacharya, Alan C. Bird, Annette M. Payne   +7 more
openaire   +5 more sources

Gucy2f zebrafish knockdown – a model for Gucy2d-related leber congenital amaurosis [PDF]

European Journal of Human Genetics, 2012
Mutations in retinal-specific guanylate cyclase (Gucy2d) are associated with Leber congenital amaurosis-1 (LCA1). Zebrafish offer unique advantages relative to rodents, including their excellent color vision, precocious retinal development, robust visual testing strategies, low cost, relatively easy transgenesis and shortened experimental times.
Anna Tovar, Michael Bach, Yael Nisgav, Ehud Reich, Ehud Reich, Nir Rainy, Gad D. Vatine, Hadas Stiebel-Kalish, Yoav Gothilf   +8 more
openaire   +5 more sources

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene [PDF]

Investigative Opthalmology & Visual Science, 2017
To examine how severe congenital blindness resulting from mutations of the GUCY2D gene alters brain structure and function, and to relate these findings to the notable preservation of retinal architecture in this form of Leber congenital amaurosis (LCA).Six GUCY2D-LCA patients (ages 20-46) were studied with optical coherence tomography of the retina ...
Omar H. Butt, Alejandro J. Roman, Artur V. Cideciyan, Alexander Sumaroka, Sharon B. Schwartz, Samuel G. Jacobson, Ritobrato Datta, Geoffrey K. Aguirre   +7 more
openaire   +4 more sources

Night vision restored in days after decades of congenital blindness [PDF]

iScience, 2022
Summary: Signaling of vision to the brain starts with the retinal phototransduction cascade which converts visible light from the environment into chemical changes.
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Alejandro J. Roman, Vivian Wu, Alexandra V. Garafalo, Alexander Sumaroka, Arun K. Krishnan, Malgorzata Swider, Abraham A. Mascio, Christine N. Kay, Dan Yoon, Kenji P. Fujita, Sanford L. Boye, Igor V. Peshenko, Alexander M. Dizhoor, Shannon E. Boye   +16 more
doaj   +2 more sources

Evolution of visual guanylyl cyclases and their activating proteins with respect to clade and species-specific visual system adaptation [PDF]

Frontiers in Molecular Neuroscience, 2023
Membrane guanylyl cyclase receptors are important regulators of local cGMP production, critically influencing cell growth and differentiation as well as ion transport, blood pressure and calcium feedback of vertebrate phototransduction.
Matthias Gesemann, Stephan C. F. Neuhauss   +1 more
doaj   +2 more sources

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center [PDF]

Indian Journal of Ophthalmology
Purpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India. Design: Retrospective observational study.
Abhishek Upadhyaya, Srikanta Kumar Padhy, Nithin Teja, Goura Chattannavar, Shreya Dutta, Venkatesh Pochaboina, Jeyapoorani Balasubramanian, Chitra Kannabiran, Brijesh Takkar, Manjushree Bhate, Subhadra Jalali, Deepika C Parameswarappa   +11 more
doaj   +2 more sources

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example [PDF]

European Journal of Human Genetics, 2007
The mosaic pattern of haplotypes observed around a single mutation results from one or several founder events. The difficulties involved in calculating the age of the variant are greatly reduced by assuming a single event, but this simplification may bias analysis of the genealogy of the mutation.
Stavit A. Shalev, Isabelle Perrault, Marc Jeanpierre, Marc Jeanpierre, Rivka Carmi, Josué Feingold, Arnold Munnich, Sylvain Hanein, Jean-Louis Dufier, Nathalie Delphin, Sylvie Gerber, Josseline Kaplan, David Benezra, Jean-Michel Rozet   +13 more
openaire   +4 more sources

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function [PDF]

International Journal of Molecular Sciences, 2021
Gene augmentation therapy is being planned for GUCY2D-associated Leber congenital amaurosis (LCA). To increase our understanding of the natural history of GUCY2D-LCA, patients were evaluated twice with an interval of 4 to 7 years between visits using safety and efficacy outcome measures previously determined to be useful for monitoring this disorder ...
Samuel G. Jacobson, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Vivian Wu, Malgorzata Swider, Rebecca Sheplock, Arun K. Krishnan, Alexandra V. Garafalo   +8 more
openaire   +4 more sources

GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data [PDF]

Genes, 2022
To report the clinical phenotype and associated genotype of a European patient cohort with GUCY2D-related autosomal-dominant (AD) cone–/cone–rod dystrophy (COD/CORD), we retrospectively analyzed 25 patients (17 female, range 12–68) with GUCY2D-related AD-COD/CORD from three major academic centers in Europe and reviewed the previously published data of ...
Jonas Neubauer, Leo Hahn, Johannes Birtel, Camiel J. F. Boon, Peter Charbel Issa, M. Dominik Fischer   +5 more
openaire   +4 more sources

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa [PDF]

Journal of Medical Genetics, 2005
To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.Mutation analysis was carried out in a group of 35 unrelated patients with juvenile autosomal recessive retinitis pigmentosa (ARRP), Leber's congenital amaurosis (LCA), or juvenile isolated retinitis pigmentosa (IRP), by denaturing ...
Booij, J.C., Florijn, R.J., ten Brink, J.B., Loves, W., Meire, F., van Schooneveld, M.J., de Jong, P.T.V.M., Bergen, A.A.B.   +7 more
openaire   +5 more sources