نتایج جستجو برای: retinitis pigmentosa

تعداد نتایج: 8539  

2018
Krithika Anil Gulcan Garip

BACKGROUND Retinitis pigmentosa is a group of genetic progressive retinal dystrophies that may adversely affect daily life. Those with RP should develop adaptive coping strategies to manage their condition. This study investigates the relationship between engaging (ECS) and disengaging coping strategies (DCS), vision-related quality of life (VRQoL), and emotional health, in adults living at hom...

Journal: :Human mutation 2007
Atsuhiro Kanda James S Friedman Koji M Nishiguchi Anand Swaroop

The transcription factor neural retina leucine zipper (NRL) is required for rod photoreceptor differentiation during mammalian retinal development. NRL interacts with CRX, NR2E3, and other transcription factors and synergistically regulates the activity of photoreceptor-specific genes. Mutations in the human NRL gene are associated with retinal degenerative diseases. Here we report functional a...

2014
Juyeong Oh Seok Hwan Kim Yu Jeong Kim Hyunho Lee Joon Hyong Cho Young Ho Cho Chul-Ki Kim Taik Jin Lee Seok Lee Ki Ho Park Hyeong Gon Yu Hyuk-jae Lee Seong Chan Jun Jae Hun Kim

Differential interference contrast microscopy is designed to image unstained and transparent specimens by enhancing the contrast resulting from the Nomarski prism-effected optical path difference. Retinitis pigmentosa, one of the most common inherited retinal diseases, is characterized by progressive loss of photoreceptors. In this study, Differential interference contrast microscopy was evalua...

Journal: :Indian Journal of Ophthalmology 2019

Journal: :British Journal of Ophthalmology 1963

Journal: :Journal of Medical Genetics 1990

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1983

Journal: :The British journal of ophthalmology 2016
Matthew Carrigan Emma Duignan Pete Humphries Arpad Palfi Paul F Kenna G Jane Farrar

BACKGROUND The GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been implicated in stationary night-blindness in the past, but unlike other proteins in the same pathway, it has not previously been implicated in retinitis pigmentosa. METHODS A panel of 182 retinopathy-associated genes was sequenced to loc...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید