Results 1 to 10 of about 1,104 (159)

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis [PDF]

Journal of Ophthalmology, 2015
Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies.
Katsuhiro Hosono, Yuko Harada, Kentaro Kurata, Akiko Hikoya, Miho Sato, Shinsei Minoshima, Yoshihiro Hotta   +6 more
doaj   +5 more sources

Erratum: Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations. [PDF]

iScience, 2021
A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized. A recombinant adeno-associated virus serotype 5 (rAAV5) vector carrying the human GUCY2D gene was delivered by subretinal injection to one eye in three adult patients with severe visual loss ...
Jacobson SG, Cideciyan AV, Ho AC, Peshenko IV, Garafalo AV, Roman AJ, Sumaroka A, Wu V, Krishnan AK, Sheplock R, Boye SL, Dizhoor AM, Boye SE.   +12 more
europepmc   +10 more sources

Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report [PDF]

Egyptian Journal of Medical Human Genetics, 2022
Background Leber congenital amaurosis (LCA), the severe form of inherited retinal degenerative disorder, is a prevalent disorder in the first year of life.
Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-Asl   +2 more
doaj   +6 more sources

Long term follow-up of a family with GUCY2D dominant cone dystrophy [PDF]

International Journal of Ophthalmology, 2018
AIM: To describe long term follow-up in a family with GUCY2D dominant cone dystrophy. METHODS: Optical coherence tomography scans and fundus autofluorescence images were obtained.
Georgios Tsokolas, Hussein Almuhtaseb, Helen Griffiths, Fatima Shawkat, Reuben J. Pengelly, Sarah Ennis, Andrew Lotery   +6 more
doaj   +7 more sources

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. [PDF]

Doc Ophthalmol, 2023
Abstract Purpose To describe the natural history of autosomal dominant (AD) GUCY2D-associated cone–rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers. Methods Retrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two
Scopelliti AJ, Jamieson RV, Barnes EH, Nash B, Rajagopalan S, Cornish EL, Grigg JR.   +6 more
europepmc   +5 more sources

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.

PLoS ONE, 2020
Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pigmentosa
Muhammad Rashid, Muhammad Qasim, Rafaqat Ishaq, Shazia Anwer Bukhari, Zureesha Sajid, Usman Ali Ashfaq, Asma Haque, Zubair M Ahmed   +7 more
doaj   +6 more sources

A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review. [PDF]

Am J Ophthalmol Case Rep
Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D) gene with different phenotypes in the electroretinogram (ERG).A 21-year-old lady (Patient 1) was referred due to
Wu PL, Lin PH, Lee W, Wang EH, Kang EY, Liu L, Wang NK.   +6 more
europepmc   +5 more sources

Gucy2d selectively marks inhibitory dynorphin neurons in the spinal dorsal horn but is dispensable for pain and itch sensitivity

PAIN Reports, 2021
. Introduction:. Inhibitory neurons in the spinal dorsal horn can be classified based on expression of neurochemical marker genes. However, these marker genes are often expressed throughout the central nervous system, which poses challenges for ...
Elizabeth K. Serafin, Robert Burns, Judy Yoo, Mark L. Baccei   +3 more
doaj   +4 more sources

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.

PLoS ONE, 2020
Leber congenital amaurosis (LCA) is a group of severe congenital retinal diseases. Variants in the guanylate cyclase 2D gene (GUCY2D), which encodes guanylate cyclase 1 (ROS-GC1), are associated with LCA1 and account for 6%-21% of all LCA cases.
Xue Feng, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye   +9 more
doaj   +6 more sources

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis [PDF]

Frontiers in Molecular Neuroscience, 2018
Over 100 mutations in GUCY2D that encodes the photoreceptor guanylate cyclase GC-E are known to cause two major diseases: autosomal recessive Leber congenital amaurosis (arLCA) or autosomal dominant cone-rod dystrophy (adCRD) with a poorly understood ...
Hanna Wimberg, Dorit Lev, Dorit Lev, Keren Yosovich, Keren Yosovich, Prasanthi Namburi, Eyal Banin, Dror Sharon, Karl-Wilhelm Koch   +8 more
doaj   +7 more sources