Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
about
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesDeletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA diseaseRP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophyTOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinOCRL localizes to the primary cilium: a new role for cilia in Lowe syndromeExome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaWhole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsBiallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementThe role of RPGR in cilia formation and actin stabilityConcise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye DiseaseSynaptic remodeling of neuronal circuits in early retinal degenerationRetinal prostheses: progress toward the next generation implants.Photoreceptor cell death and rescue in retinal detachment and degenerationsAxonemal positioning and orientation in three-dimensional space for primary cilia: what is known, what is assumed, and what needs clarificationMinireview: the role of nuclear receptors in photoreceptor differentiation and diseaseA Naturally-Derived Compound Schisandrin B Enhanced Light Sensation in the pde6c Zebrafish Model of Retinal DegenerationNo evidence for a genetic blueprint: The case of the "complex" mammalian photoreceptorBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsMutations in POMGNT1 cause non-syndromic retinitis pigmentosaLoss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in miceRestoration of vision in the pde6β-deficient dog, a large animal model of rod-cone dystrophyAblation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degenerationFas ligand-Fas signaling participates in light-induced apoptotic death in photoreceptor cellsAnimals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degenerationDisruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degenerationEpigenomic landscapes of retinal rods and conesModulation of Type-1 and Type-2 Cannabinoid Receptors by Saffron in a Rat Model of Retinal NeurodegenerationAxial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsRegulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRLMassively parallel cis-regulatory analysis in the mammalian central nervous systemMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsBiallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyTreatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyZinc-finger-based transcriptional repression of rhodopsin in a model of dominant retinitis pigmentosa.Multimodal photoacoustic ophthalmoscopy in mouseDeveloping rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptorsA detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.A novel immunodeficient NOD.SCID-rd1 mouse model of retinitis pigmentosa to investigate potential therapeutics and pathogenesis of retinal degenerationMutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
P2860
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P2860
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on April 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
@en
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
@nl
type
label
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
@en
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
@nl
prefLabel
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
@en
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
@nl
P2093
P356
P1476
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
@en
P2093
Alan F Wright
Christina F Chakarova
Mai M Abd El-Aziz
Shomi S Bhattacharya
P2860
P2888
P304
P356
10.1038/NRG2717
P577
2010-04-01T00:00:00Z
P5875
P6179
1026483567