Retinitis pigmentosa

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Unknown (2096)
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Organisms

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Mus musculus (87)
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Human alphaherpesvirus 1 strain 17 (26)
Human alphaherpesvirus 1 strain KOS (26)
Human herpesvirus 2 strain 186 (26)
Caenorhabditis elegans (9)
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Human alphaherpesvirus 1 (1)

Organisms

Mus musculus (57)
Homo sapiens (47)
Danio rerio (6)
human blood metagenome (5)
Rattus norvegicus (5)
Saccharomyces cerevisiae (2)
Drosophila melanogaster (2)
Canis lupus familiaris (1)
Caenorhabditis elegans (1)

Repository

ENA (169)
biostudies-arrayexpress (137)
geo (105)
pride (26)
EGA (24)
PanoramaPublic (4)
dbGaP (3)
iProX (3)
MassIVE (3)
MetaboLights (3)
MetabolomicsWorkbench (1)

Tissue

Retina (13)
Cell culture (6)
Retinal cell (5)
Epithelial cell (2)
Fibroblast (2)
Eye tissue (1)
Early embryonic cell (1)
Egg (1)
Embryo (1)
HeLa cell (1)
Kidney (1)
Neural retina (1)
Permanent cell line cell (1)
Primary cell (1)
Retinal pigment epithelial cell (1)
Retinal pigment epithelium (1)
Retinal pigment epithelium cell (1)
Skin (1)
Stem cell (1)

Disease

Retinitis pigmentosa (5)
Retinal degeneration (5)
Autosomal Recessive Retinitis Pigmentosa (1)
Normal (1)
Cataract (1)
Eye disease (1)
Disease free (1)
Malignant neoplasm of ovary (1)
Night blindness (1)
Refsum disease (1)
Retinitis (1)
Retinitis pigmentosa 11 (1)

Technology Type

Mass Spectrometry (27)
Shotgun proteomics (11)
Data-dependent acquisition (9)
Bottom-up proteomics (6)
Illumina (4)
Illumina HiSeq 2500 (ILLUMINA) (3)
Mass spectrometry assay (3)
Data-independent acquisition (3)
Gel-based experiment (2)
ILLUMINA, Illumina HiSeq 2500, Illumina HiSeq 2500 (ILLUMINA) (1)
ESI (1)
Affinity purification coupled with mass spectrometry proteomics (1)

Instrument Platform

Illumina HiSeq 4000 (17)
Illumina NovaSeq 6000 (10)
NextSeq 500 (7)
Illumina HiSeq 2000 (6)
NextSeq 2000 (5)
Illumina HiSeq 2500 (4)
Illumina Genome Analyzer IIx (2)
Liquid Chromatography MS - alternating - hilic (2)
Illumina HiSeq 2000 platform (1)
High-performance computing workstation (1)
Protocol computer workstation running R statistical software (1)
Thermal cycler (PCR); Covaris ME220 focused ultrasonicator; magnetic separation rack; Agilent TapeStation system (D5000 and D1000 ScreenTape assays); Qubit fluorometer or equivalent; microcentrifuge. (1)
JANUS® G3 MDT automated liquid handling workstation (PerkinElmer); thermal cycler or incubator (42 °C); Zymo DNA Clean & Concentrator columns; AMPure XP magnetic bead purification system; magnetic separation rack. (1)
Multichannel pipettes or automated liquid handler; 384-well tissue culture plates; Class II biological safety cabinet; CO₂ incubator (37 °C, 5% CO₂). (1)
418 [Affymetrix] (1)
ScanArray Express HT [PerkinElmer] (1)
ScanArray Express HT (1)
Illumina NovaSeq X (1)
Illumina MiniSeq (1)
NextSeq 550 (1)
Illumina HiSeq 3000 (1)
Orbitrap Fusion (1)
Orbitrap Fusion Lumos (1)
TimsTOF Pro (1)
Liquid Chromatography MS - alternating - reverse-phase (1)

Publication Date

2024 (33)
2026 (27)
2025 (26)
2021 (22)
2014 (22)
2023 (18)
2020 (17)
2016 (14)
2022 (13)
2015 (13)
2010 (13)
2013 (11)
2011 (10)
2018 (9)
2012 (8)
2019 (6)
2008 (5)
2007 (4)
2017 (3)
2009 (2)
2006 (2)
2005 (1)

Metabolite Name

S-(2-boronoethyl)-l-cysteine (1)
Ps 40:6 (1)
Pg(18:1/8,9-eet) (1)
Pg 38:6 (1)
Pg 34:1 (1)
Pc 39:6 (1)
O,o-dimethyl dithiophosphate (1)
Methanone, [1-(5-fluoropentyl)-6-hydroxy-1h-indol-3-yl]-1-naphthalenyl- (1)
9-hydroxycalabaxanthone (1)
7-hydroxy-4z,8e,10z,13z,16z,19z-docosahexaenoic acid (1)
7-hydroxy-4-methylcoumarin-3-acetic acid (1)
5-chloro-2,4-dihydroxy-6-methyl-3-[(e)-3-methyl-5-[(1s,2r,6r)-1,2,6-trimethyl-3-oxocyclohexyl]pent-2-enyl]benzaldehyde (1)
5-aminoorotic acid (1)
4-methyl-3-nitrobenzoic acid (1)
3-glucuronyl-22-ddmp soyasapogenol b (1)
20-carboxyarachidonic acid (1)
2'-hydroxy-4-methylchalcone (1)
2,6'-dimethoxy-2'-hydroxychalcone (1)
2-thiophenecarboxylic acid (1)
2-acetyl-6-[(3-butanoyl-2,4,6-trihydroxy-5-methylphenyl)methyl]-3,5-dihydroxy-4,4-dimethylcyclohexa-2,5-dien-1-one (1)
14-o-acetyldaunomycinone (1)
(+)-11-nor-.delta.9-tetrahydrocannabinol-9-carboxylic acid glucuronide (1)
Tyr-Asn-Arg (1)
Trp-Asp-Lys (1)
Thr-Ile-Lys (1)
Ser-Leu-Arg (1)
Ser-Glu-Arg (1)
Ser-Ala-Arg (1)
Pyroglu-Ala (1)
Phe-Val-Arg (1)

First Public Date

2024 (27)
2025 (23)
2021 (21)
2026 (20)
2020 (14)
2014 (13)
2023 (11)
2022 (11)
2019 (6)
2016 (6)
2018 (5)
2017 (5)
2015 (5)
2013 (2)

Study status

Recruiting (1)

Study type

Transcription profiling by array (44)
RNA-seq of coding RNA (41)
ChIP-seq (12)
RNA-seq of non coding RNA (8)
Other (6)
Animal - High-throughput sequencing (5)
RNA-seq of coding RNA from single cells (5)
MicroRNA profiling by array (4)
Genotyping by array (2)
Methylation profiling by array (2)
Proteomic profiling by array (2)
PRO-seq (1)
GRO-seq (1)
Unknown experiment type (1)
CLIP-seq (1)
MicroRNA profiling by high throughput sequencing (1)
RNA-seq of total RNA (1)
Observational patient registry (1)

Release Date

2021 (215)
2022 (198)
2023 (195)
2020 (190)
2025 (157)
2024 (151)
2019 (137)
2016 (131)
2014 (110)
2018 (109)
2017 (109)
2015 (104)
2013 (74)
2012 (61)
2011 (52)
2010 (49)
2009 (40)
2026 (31)
2008 (25)
2007 (22)
2006 (15)
2002 (12)
2004 (10)
2005 (9)
2003 (6)
2000 (6)
2001 (5)
1999 (5)
1998 (3)
1997 (1)

Lab affiliation

Center for Translational Vision Research, Department of Ophthalmology, Gavin Herbert Eye Institute, University of California, Irvine, Irvine, CA, 92697, USA; Department of Physiology and Biophysics, Department of Chemistry, Department of Molecular Biology and Biochemistry; University of California, Irvine, Irvine, CA, 92697, USA (3)
Bascom Palmer Eye Institute University of Miami (1)
Bioanalytical Mass Spectrometry Group, Max-Planck-Institute for Biophysical Chemistry Department of Clinical Chemistry, University Medical Center Goettingen (1)
Bioanalytical Mass Spectrometry Group,Max-Planck-Institute for Multidisciplinary Sciences,Goettingen, Germany (1)
Bowling Green State University (1)
Department of Ophthalmology, University of California, Irvine, CA 92697 (1)
Faculty of Medicine, Department of Clinical Sciences Lund, Lund University, Ophthalmology, Lund, Sweden (1)
Institute of Biochemistry II, Faculty of Medicine, Goethe University Frankfurt; Frankfurt, Germany. (1)
Institute of Biochemistry II, Faculty of Medicine, Goethe University, Frankfurt am Main, Germany Frankfurt Cancer Institute, Frankfurt am Main, Germany Cardio-Pulmonary Institute, Frankfurt am Main, Germany (1)
Institute of Biochemistry II, Goethe University Medical Faculty (1)
Laboratoire de Spectrométrie de Masse BioOrganique, IPHC, Université de Strasbourg, CNRS, UMR7178, Strasbourg, France (1)
Laboratory of RNA Biology Institute of Molecular Genetics of the Czech Academy of Sciences Prague, Czechia (1)
MRC Laboratory of Molecular Biology (1)
Max Planck Institute for Multidisciplinary Sciences, Bioanalytical Mass Spectrometry Group, Göttingen, Germany University Medical Center Göttingen, Department of Clinical Chemistry, Bioanalytics Group, Göttingen, Germany (1)
Molecular Biology of Retinal Degenerations Institute for Ophthalmic Research Eberhard-Karls University of Tuebingen (1)
Ottawa Institute of Systems Biology, University of Ottawa, Ottawa, ON, Canada (1)
Professor, The Jackson Laboratory, Bar Harbor, ME 04609 USA (1)
Proteomics, Leibniz-Institut für analytische Wissenschaften -ISAS - e.V., Germany (1)
Research Unit Protein Science, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany (1)
Southwest Hospital/Southwest Eye Hospital, Third Military Medical University, Chong Qing, 400038, China (1)
The Hong Kong Polytechnic University (1)
Vinit B. Mahajan M.D., Ph.D., Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, 94304 USA (vinit.mahajan@stanford.edu). Phone: 650.723.6995. Fax: 650.498.1528. (1)
university of edinburgh (1)
Dr. J.C. Wolters Principal investigator University Medical Center Groningen Laboratory of Pediatrics Visiting address: Antonius Deusinglaan 1 (ERIBA 6th floor), 9713 AV Groningen, The Netherlands Mail address: P.O.Box 196, 9700 AD Groningen, The Netherlands HPC XB23/Room 3226.0657 Phone: +31 (0) 50 3636276 www.labpediatricsrug.nl (1)

Location

Australia (1)
United States (1)

Keyword

Neglected Diseases (1)
Orphan Diseases (1)
Rare Disease Research (1)
Registries (1)
Batten Disease (1)
Mucolipidosis IV (1)
Undiagnosed (1)
Uncommon Disease (1)
Hypersomnia (1)
Marinesco-Sjogren Syndrome (1)
4p-/Wolf-Hirschhorn Syndrome (1)
Wiedermann-Steiner Syndrome (1)
Hemophagocytic Lymphohistiocytosis (HLH) (1)
Behcet’s Disease (1)
Jansen metaphyseal chondrodysplasia (1)
Chronic recurrent multifocal osteomyelitis (CRMO) (1)
Hereditary Sensory and Autonomic Neuropathy (1)
Nephropathic infantile cystinosis (1)
Ocular cystinosis (1)
Spinal Bulbar Muscular Atrophy (SBMA) (1)
Mucolipidosis (1)
Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders) (1)
Shine Syndrome (1)
Intestinal Bromhidrosis Syndrome (1)
Autosomal recessive extra oral halitosis (1)
CACNA1H mutation (1)
Dimethylglycine dehydrogenase deficiency (1)

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Identifying glycolysis in mitochondria as a new perspective on the pathogenesis of retinitis pigmentosa

Identifying glycolysis in mitochondria as a new perspective on the pathogenesis of retinitis pigmentosa.

2026-03-29 | MTBLS14179 | MetaboLights

Identifying glycolysis in mitochondria as a new perspective on the pathogenesis of retinitis pigmentosa

2026-03-28 | MTBLS14170 | MetaboLights

Metabolomics of a Mouse Model for Retinitis Pigmentosa

Not available

ORGANISM(S): Mus musculus

ST001150 | MetabolomicsWorkbench

MicroRNA profiling of mouse wild type (C57) retina and a retina from a mouse model of retinitis pigmentosa (Pro347Ser)

Experiment to examine the miRNA profiles in the retina compared to the brain and other body regions. A comparison of a wild type C57 mouse retina versus a retina from a mouse model of retinitis pigmentosa (Pro347Ser) was under taken.

ORGANISM(S): Mus musculus

2007-11-22 | E-TABM-332 | biostudies-arrayexpress

GENE EXPRESSION CHANGES WITHIN MM-CM-^\LLER GLIAL CELLS DURING RETINITIS PIGMENTOSA

Retinitis Pigmentosa (RP) is a progressive retinal degeneration in which the retina loses nearly all of its photoreceptor cells and undergoes major structural changes. Little is known regarding the role the resident glia, the MM-CM-

ORGANISM(S): Mus musculus

2014-10-31 | E-GEOD-35386 | biostudies-arrayexpress

Prp8 Retinitis Pigmentosa Mutants Cause Defects in the Transition between the Catalytic Steps of Splicing

The essential process of pre-mRNA splicing must occur with high fidelity and efficiency for proper gene expression. The spliceosome employs DExD/H box helicases to promote on-pathway interactions while simultaneously minimizing errors. Prp8 and Snu114, an EF2-like GTPase, regulate the activity of th...

ORGANISM(S): Saccharomyces cerevisiae

2016-07-21 | E-GEOD-75081 | biostudies-arrayexpress

Transcription profiling of human lymphoblast cell lines from 13 unrelated index patients and siblings

Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated decay. Some RP genes are expressed at detectable levels in leukocytes as well as in the retina. We designed a microarray-based method to find recessive RP genes bas...

ORGANISM(S): Homo sapiens

2008-10-21 | E-GEOD-12086 | biostudies-arrayexpress

Next Generation Sequencing Comparison of C57BL/6J and BC027072 -/- Eye Transcriptomes

We report the single base pair analysis of the ocular transcriptome from wild type and BC027072 knockout animals. Comparison was analyzed to understand gene expression changes in a mouse model for early onset retinal degeneration which phenocopies a human form of autosomal recessive retinitis pigmen...

ORGANISM(S): Mus musculus

2015-02-03 | E-GEOD-63810 | biostudies-arrayexpress

HipSci RNASEQ Retinitis Pigmentosa

The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS lines from Retinitis Pigmentosa patients

EGAS00001001996 | EGA

Retinal proteomic analysis in rd10 mouse model of retinitis pigmentosa following heterozygous TAK1 deficiency using LC-MS/MS

To decipher the protective mechanisms underlying microglia specific heterozygous TAK1 deficiency in rd10 mouse model of retinitis pigmentosa, we analyzed the retinal proteomic profiles of normal C57BL/6J mice, tamoxifen-treated Cx3cr1CreER/+;Tak1fl/+, vehicle-treated rd10;Cx3cr1CreER/+;Tak1fl/+, and...

ORGANISM(S): Mus musculus (Mouse)

2025-04-17 | PXD061300 | Pride

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