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NRL encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. Zusätzlich bieten wir Ihnen NRL Antikörper (23) und NRL Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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the function of NRL is modulated by its interaction with specific repressor proteins, related to cross-talk between signaling pathways in the retina.
REEP6.1 is a key functional target of NRL (zeige NRF1 ELISA Kits)-centered transcriptional regulatory network in rod photoreceptors.
We identified a novel NRL mutation (c.147_149del, p.Ser50del) leading to adRP (zeige PLIN2 ELISA Kits) in a Chinese family with retinitis pigmenntosa.
investigated the prevalence of the NRL mutation among Bukhara Jews with oculopharyngeal muscular dystrophy (OPMD)
This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype.
The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family.
In another family a variant, p.M96T in the NRL gene was detected as a retinitis pigmentosa-causing mutation.
This novel p.M96T mutant activated the RHO promoter more intensely than did wild-type NRL in a family with autosomal dominant retinitis pigmentosa.
Studies suggest an important role of sumoylation in fine-tuning the activity of NRL and thereby incorporating yet another layer of control in gene regulatory networks involved in photoreceptor development and homeostasis.
In this study, NR2E3 mutations were found to be responsible for approximately 2.9% of overall retinitis pigmentosa (RP) in Chinese patients, NRL was not associated with RP.
The disease caused by NRL mutations found in this study appears to be more severe
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
Nrl is posttranscriptionally regulated to facilitate the generation of other cell types in retina
De novo assembly and alternative splicing analyses revealed previously unannotated rod-enriched transcripts and the role of NRL in transcript maturation.
Our studies reveal coregulation of coding and noncoding transcripts in rod photoreceptors by NRL and establish the framework for deciphering the function of ncRNAs during retinal development.
To explore dendritic stratification of OFF bipolar cells in the absence of rods, we made use of the 'cone-full' Nrl-/- mouse retina in which all photoreceptor precursor cells commit to a cone fate including those which would have become rods in wild-type retinas
CNGA3 expression restored cone function in in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia.
REEP6.1 is a key functional target of NRL-centered transcriptional regulatory network in rod photoreceptors.
Data indicate that positive feedback between neural retina leucine zipper factor (NRL) and retinoid-related orphan receptor beta gene (Rorb) genes reinforces the commitment to a rod differentiation fate.
shRNA-mediated knockdown of Crx and Nrl resulted in reduced Kcnv2 promoter activity and low endogenous Kcnv2 mRNA expression in the retina.
This study analyzed the retinal pigment epithelium from Nrl(-/-) mice of various ages for lipofuscin fluorescence and A2E levels.
Findings suggest that elimination of Nrl in adult rods may represent a unique therapy for retinal degeneration.
This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases.
neural retina leucine zipper
, bZIP transcription factor L-Maf
, leucine zipper transcription factor
, neural retina-specific leucine zipper protein
, neural retinal-specific leucine zipper