Results 31 to 40 of about 1,104 (159)

Targeted multi-layer analysis of PANoptosis-associated genes in the etiology of chronic kidney disease [PDF]

Human Genomics
Background Previous studies have examined the cellular and molecular interactions between chronic kidney disease (CKD) and PANoptosis, yet the genetic underpinnings remain unclear.
Tong Li, Yingyue Zhang, Xingzhi Wang, Qi Liu, Xiaofei Ma, Manshu Sui   +5 more
doaj   +2 more sources

GUCY2D Gene Loss-of-Function Mutations Responsible for Leber Congenital Amaurosis 1 [PDF]

, 2019
Abstract Background: Leber congenital amaurosis (LCA) is a group of severe congenital neurodegenerative 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.
Feng Xue, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye   +9 more
  +6 more sources

Development and characterization of a Gucy2d-cre mouse to selectively manipulate a subset of inhibitory spinal dorsal horn interneurons

PLOS ONE
Recent transcriptomic studies identified Gucy2d (encoding guanylate cyclase D) as a highly enriched gene within inhibitory dynorphin interneurons in the mouse spinal dorsal horn. To facilitate investigations into the role of the Gucy2d+ population in somatosensation, Gucy2d-cre transgenic mice were created to permit chemogenetic or optogenetic ...
Elizabeth K. Serafin, Judy J. Yoo, Jie Li, Xinzhong Dong, Mark L. Baccei   +4 more
openaire   +4 more sources

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies [PDF]

American Journal of Ophthalmology, 2020
To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LCA) in a cohort of children and adults, in preparation for trials of novel therapies.Retrospective case series.Participants: Patients with GUCY2D-LCA at a single referral center.Review of clinical notes, retinal imaging including fundus ...
Tryfon Rotsos, Michalis Georgiou, Alison J. Hardcastle, Gavin Arno, Alessia Fiorentino, Anthony G. Robson, Michel Michaelides, Michel Michaelides, Kaoru Fujinami, Nikolas Pontikos, Andrew R. Webster, Zaina Bouzia, Sarah Hull   +12 more
openaire   +6 more sources

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene [PDF]

Eye, 2014
The purpose of this study is to describe the phenotype of a family with de novo mutation in the GUCY2D.Five subjects, including two monozygotic twins, underwent ophthalmic clinical examination while some had autofluorescence imaging (AF) and optical coherence tomography (OCT). Symptomatic individuals underwent electrophysiological testing. The youngest
Anthony G. Robson, Anthony G. Robson, Andrew R. Webster, Andrew R. Webster, G E Holder, G E Holder, Rajarshi Mukherjee, Anthony T. Moore, Anthony T. Moore, Catherine A Egan, Catherine A Egan, Andrew Stockman   +11 more
openaire   +6 more sources

GUCY2D Gene Mutation in a Family with Leber Congenital Amaurosis [PDF]

Journal of Animal and Veterinary Advances, 2012
Wu Li, Li Pengcheng, Xing Yiqiao
openaire   +3 more sources

Preclinical studies in support of phase I/II clinical trials to treat GUCY2D-associated Leber congenital amaurosis. [PDF]

Mol Ther Methods Clin Dev, 2023
Boye SL, O'Riordan C, Morris J, Lukason M, Compton D, Baek R, Elmore DM, Peterson JJ, Fajardo D, McCullough KT, Scaria A, McVie-Wylie A, Boye SE.   +12 more
europepmc   +3 more sources

Electroretinographic Abnormalities in Parents of Patients With Leber Congenital Amaurosis Who Have Heterozygous GUCY2D Mutations [PDF]

Archives of Ophthalmology, 2002
Leber congenital amaurosis (LCA) is an infrequently encountered congenital form of retinitis pigmentosa with marked genetic and clinical heterogeneity. Thus far, 10 genes have been identified in this disorder since 1996. In the future, LCA may become treatable by gene and/or pharmacological intervention, and these therapies will likely be gene specific,
KOENEKOOP RK, FISHMAN GA, IANNACCONE A, EZZELDIN H, CICCARELLI ML, BALDI, Alfonso, SUNNESS JS, LOTERY AJ, JABLONSKI MM, PITTLER SJ, MAUMENEE I.   +10 more
openaire   +6 more sources

Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review. [PDF]

Clin Exp Ophthalmol
ABSTRACT Phototransduction, the process by which captured photons elicit electrical changes in retinal rod and cone cells, represents the first neuronal step in vision and involves interactions between several highly specialised proteins. Pathogenic variants in genes encoding many of these proteins can give rise to significant vision impairment ...
Wong WM, Mahroo OA.
europepmc   +2 more sources

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease. [PDF]

Acta Ophthalmol
Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
De Geer K, Löfgren S, Lindstrand A, Kvarnung M, Björck E.   +4 more
europepmc   +2 more sources