Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors

(2018) Dario Melguizo-Sanchis et al.   Cell Death & Disease

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

(2018) Helen Louise May-Simera et al.   Cell Reports

The Output of Protein-Coding Genes Shifts to Circular RNAs When the Pre-mRNA Processing Machinery Is Limiting

(2017) Dongming Liang et al.   MOLECULAR CELL

Towards optimisation of induced pluripotent cell culture: Extracellular acidification results in growth arrest of iPSC prior to nutrient exhaustion

(2017) Anja Wilmes et al.   TOXICOLOGY IN VITRO

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa

(2017) Maitane Ezquerra-Inchausti et al.   Scientific Reports

Pan-retinal characterisation of Light Responses from Ganglion Cells in the Developing Mouse Retina

(2017) Gerrit Hilgen et al.   Scientific Reports

The Perseus computational platform for comprehensive analysis of (prote)omics data

(2016) Stefka Tyanova et al.   NATURE METHODS

The Musashi 1 Controls the Splicing of Photoreceptor-Specific Exons in the Vertebrate Retina

(2016) Daniel Murphy et al.   PLoS Genetics

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

(2015) Gabrielle Wheway et al.   NATURE CELL BIOLOGY

2016 update of the PRIDE database and its related tools

(2015) Juan Antonio Vizcaíno et al.   NUCLEIC ACIDS RESEARCH

IGF-1 Signaling Plays an Important Role in the Formation of Three-Dimensional Laminated Neural Retina and Other Ocular Structures From Human Embryonic Stem Cells

(2015) Carla B. Mellough et al.   STEM CELLS

Generation of a ciliary margin-like stem cell niche from self-organizing human retinal tissue

(2015) Atsushi Kuwahara et al.   Nature Communications

Spike Detection for Large Neural Populations Using High Density Multielectrode Arrays

(2015) Jens-Oliver Muthmann et al.   Frontiers in Neuroinformatics

Segmentation of the Clustered Cells with Optimized Boundary Detection in Negative Phase Contrast Images

(2015) Yuliang Wang et al.   PLoS One

Mutations in Pre-mRNA Processing Factors 3, 8, and 31 Cause Dysfunction of the Retinal Pigment Epithelium

(2014) Michael H. Farkas et al.   AMERICAN JOURNAL OF PATHOLOGY

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

PRPF4 mutations cause autosomal dominant retinitis pigmentosa

(2014) Xue Chen et al.   HUMAN MOLECULAR GENETICS

PRPF8 defects cause missplicing in myeloid malignancies

(2014) A Kurtovic-Kozaric et al.   LEUKEMIA

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

(2012) Giulia Venturini et al.   PLoS Genetics

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

(2011) Goranka Tanackovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

(2011) Goranka Tanackovic et al.   HUMAN MOLECULAR GENETICS

Human Induced Pluripotent Stem-Derived Retinal Pigment Epithelium (RPE) Cells Exhibit Ion Transport, Membrane Potential, Polarized Vascular Endothelial Growth Factor Secretion, and Gene Expression Pattern Similar to Native RPE

(2011) Maria Kokkinaki et al.   STEM CELLS

Metadata matters: access to image data in the real world

(2010) Melissa Linkert et al.   JOURNAL OF CELL BIOLOGY

Enhancing Serial Block-Face Scanning Electron Microscopy to Enable High Resolution 3-D Nanohistology of Cells and Tissues

(2010) TJ Deerinck et al.   MICROSCOPY AND MICROANALYSIS

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

(2009) Chen Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

(2009) H. R. Dawe et al.   JOURNAL OF CELL SCIENCE

PRPF31Alternative Splicing and Expression in Human Retina

(2009) Goranka Tanackovic et al.   OPHTHALMIC GENETICS

Protective Effects of Human iPS-Derived Retinal Pigment Epithelium Cell Transplantation in the Retinal Dystrophic Rat

(2009) Amanda-Jayne Carr et al.   PLoS One

Endogenous VEGF Is Required for Visual Function: Evidence for a Survival Role on Müller Cells and Photoreceptors

(2008) Magali Saint-Geniez et al.   PLoS One