Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in &lt;emph type="ital"&gt;KLHL7&lt;/emph&gt;

Wen, Yuquan; Locke, Kirsten G.; Klein, Martin; Bowne, Sara J.; Sullivan, Lori S.; Ray, Joseph W.; Daiger, Stephen P.; Birch, David G.; Hughbanks-Wheaton, Dianna K.

doi:10.1001/archophthalmol.2011.307

Cited by 28 publications

(31 citation statements)

References 16 publications

(29 reference statements)

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“…Moreover, we proposed, basing on our analyzed data, a more complex network of new candidate pathways that could be involved in RP etiopathogenesis. Among them, we found expression changes in gene involved in cell cycle regulation, vesicular trafficking, cell migration, endoplasmic reticulum stress, chaperones activity, small GTPase signaling, retinoic acid cycle Persistence of ER stress induces UPR to trigger intrinsic apoptotic pathway [93][94][95][96][97][98][99][100][101][102] VESICULAR TRAFFICKING CONTROL (NPHP3, INVS, DHDDS, PNPLA6)…”

Section: Discussionmentioning

confidence: 99%

RETRACTED ARTICLE: Role of oxidative stress in Retinitis pigmentosa: new involved pathways by an RNA-Seq analysis

et al. 2018

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Retinitis pigmentosa (RP) is a very heterogeneous inherited ocular disorder group characterized by progressive retinal disruption. Retinal pigment epithelium (RPE) degeneration, due to oxidative stress which arrests the metabolic support to photoreceptors, represents one of the principal causes of RP. Here, the role of oxidative stress in RP onset and progression was analyzed by a comparative whole transcriptome analysis of human RPE cells, treated with 100 µg/ml of oxLDL and untreated, at different time points. Experiment was thrice repeated and performed on Ion Proton TM sequencing system. Data analysis, including low quality reads trimming and gene expression quantification, was realized by CLC Genomics Workbench software. The whole analysis highlighted 14 clustered "macro-pathways" and many sub-pathways, classified by selection of 5271 genes showing the highest alteration of expression. Among them, 23 genes were already known to be RP causative ones (15 over-expressed and 8 down-expressed), and their enrichment and intersection analyses highlighted new 77 candidate related genes (49 over-expressed and 28 down-expressed). A final filtering analysis then highlighted 29 proposed candidate genes. This data suggests that many new genes, not yet associated with RP, could influence its etiopathogenesis.

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Section: Discussionmentioning

confidence: 99%

RETRACTED ARTICLE: Role of oxidative stress in Retinitis pigmentosa: new involved pathways by an RNA-Seq analysis

et al. 2018

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“…Another rare cause of RP is heterozygous mutation of KLHL7 (OMIM 612943) and both reports to date suggest that this is characterized by late onset disease (24,25). Here, we have identified two patients with variants in KLHL7.…”

Section: Discussionmentioning

confidence: 76%

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service

et al. 2016

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“…of Michigan, Ann Arbor. Clinical examinations included visual acuity, visual fields and dark adaptation, and, in most cases, optical coherence tomography and electroretinography [9]. Criteria for enrollment in the adRP cohort were three affected generations with affected females, or two affected generations with male-to-male transmission (to minimize X-linked RP).…”

Section: 2 Methodsmentioning

confidence: 99%

Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

Daiger

Bowne

Sullivan

et al. 2014

Advances in Experimental Medicine and Biology

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The goal of our research is to identify genes and mutations causing auto-somal dominant retinitis pigmentosa (adRP). For this purpose we established a cohort of more than 250 independently ascertained families with adRP in the Houston Laboratory for Molecular Diagnosis of Inherited Eye Diseases. Affected members of each family were screened for disease-causing mutations in genes and gene regions that are commonly associated with adRP. By this approach, we detected mutations in 65 % of the families, leaving 85 families that are likely to harbor mutations outside of the “common” regions or in novel genes. Of these, 32 families were tested by several types of next-generation sequencing (NGS), including (a) targeted polymerase chain reaction (PCR) NGS, (b) whole exome NGS, and (c) targeted retinal-capture NGS. We detected mutations in 11 of these families (31 %) bringing the total detected in the adRP cohort to 70 %. Several large families have also been tested for linkage using Afymetrix single nucleotide polymorphism (SNP) arrays.

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Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in <emph type="ital">KLHL7</emph>

Cited by 28 publications

References 16 publications

RETRACTED ARTICLE: Role of oxidative stress in Retinitis pigmentosa: new involved pathways by an RNA-Seq analysis

RETRACTED ARTICLE: Role of oxidative stress in Retinitis pigmentosa: new involved pathways by an RNA-Seq analysis

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service

Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

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