New Technologies to Study Functional Genomics of Age-Related Macular Degeneration

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

(2020) Tobias Strunz et al.   Scientific Reports

Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration

(2020) Luz D. Orozco et al.   Cell Reports

Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration

(2020) Xikun Han et al.   JOURNAL OF HUMAN GENETICS

Interplay between Autophagy and the Ubiquitin-Proteasome System and Its Role in the Pathogenesis of Age-Related Macular Degeneration

(2019) Janusz Blasiak et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Opportunities and challenges for transcriptome-wide association studies

(2019) Michael Wainberg et al.   NATURE GENETICS

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

(2019) Rinki Ratnapriya et al.   NATURE GENETICS

Benefits and limitations of genome-wide association studies

(2019) Vivian Tam et al.   NATURE REVIEWS GENETICS

Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci

(2019) Erin N. Smith et al.   Stem Cell Reports

Molecular characterization of foveal versus peripheral human retina by single-cell RNA sequencing

(2019) A.P. Voigt et al.   EXPERIMENTAL EYE RESEARCH

Beyond bulk: a review of single cell transcriptomics methodologies and applications

(2019) Ashwinikumar Kulkarni et al.   CURRENT OPINION IN BIOTECHNOLOGY

A single‐cell transcriptome atlas of the adult human retina

(2019) Samuel W Lukowski et al.   EMBO JOURNAL

Tissue engineering of retina through high resolution 3-dimentional inkjet bioprinting

(2019) Elahe Masaeli et al.   Biofabrication

Single-cell transcriptomic atlas of the human retina identifies cell types associated with age-related macular degeneration

(2019) Madhvi Menon et al.   Nature Communications

Multisystem Proteinopathy Mutations in VCP/p97 Increase NPLOC4·UFD1L Binding and Substrate Processing

(2019) Emily E. Blythe et al.   STRUCTURE

Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling

(2019) Qingnan Liang et al.   Nature Communications

HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1

(2018) Michael K. Lin et al.   AGING CELL

Transcriptome Engineering with RNA-Targeting Type VI-D CRISPR Effectors

(2018) Silvana Konermann et al.   CELL

CRISPR-based methods for high-throughput annotation of regulatory DNA

(2018) Tyler S Klann et al.   CURRENT OPINION IN BIOTECHNOLOGY

An enhanced CRISPR repressor for targeted mammalian gene regulation

(2018) Nan Cher Yeo et al.   NATURE METHODS

Age-Related Macular Degeneration: New Paradigms for Treatment and Management of AMD

(2018) Luis Fernando Hernández-Zimbrón et al.   Oxidative Medicine and Cellular Longevity

Macular Morphology and Visual Acuity in Year Five of the Comparison of Age-related Macular Degeneration Treatments Trials (CATT)

(2018) Glenn J. Jaffe et al.   OPHTHALMOLOGY

Characterization of a tissue-engineered choroid

(2018) Aïcha Dede Djigo et al.   Acta Biomaterialia

Deciphering the Emerging Complexities of Molecular Mechanisms at GWAS Loci

(2018) Maren E. Cannon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Switchable phase transition behavior of thermoresponsive substrates for cell sheet engineering

(2018) Kiana Mokhtarinia et al.   JOURNAL OF POLYMER SCIENCE PART B-POLYMER PHYSICS

Optimized libraries for CRISPR-Cas9 genetic screens with multiple modalities

(2018) Kendall R. Sanson et al.   Nature Communications

A Simple Cloning-free Method to Efficiently Induce Gene Expression Using CRISPR/Cas9

(2018) Lyujie Fang et al.   Molecular Therapy-Nucleic Acids

Rapid differentiation of the human RPE cell line, ARPE-19, induced by nicotinamide

(2018) Roni A. Hazim et al.   EXPERIMENTAL EYE RESEARCH

Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator

(2017) Sven Micklisch et al.   Journal of Neuroinflammation

A Novel 3D Cultured Model for Studying Early Changes in Age-Related Macular Degeneration

(2017) Ali Shokoohmand et al.   MACROMOLECULAR BIOSCIENCE

Genome-scale CRISPR-Cas9 knockout and transcriptional activation screening

(2017) Julia Joung et al.   Nature Protocols

Drug discovery using induced pluripotent stem cell models of neurodegenerative and ocular diseases

(2017) Sandy S.C. Hung et al.   PHARMACOLOGY & THERAPEUTICS

Drusen in patient-derived hiPSC-RPE models of macular dystrophies

(2017) Chad A. Galloway et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure

(2017) Dean Hallam et al.   STEM CELLS

Dysfunctional autophagy in RPE, a contributing factor in age-related macular degeneration

(2017) Nady Golestaneh et al.   Cell Death & Disease

The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels

(2017) Anna L Miles et al.   eLife

Recapitulation of Human Retinal Development from Human Pluripotent Stem Cells Generates Transplantable Populations of Cone Photoreceptors

(2017) Anai Gonzalez-Cordero et al.   Stem Cell Reports

Simple and complex retinal dystrophies are associated with profoundly different disease networks

(2017) Christina Kiel et al.   Scientific Reports

A comparative strategy for single-nucleus and single-cell transcriptomes confirms accuracy in predicted cell-type expression from nuclear RNA

(2017) Blue B. Lake et al.   Scientific Reports

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

(2016) Jos C. Jansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Colocalization of GWAS and eQTL Signals Detects Target Genes

(2016) Farhad Hormozdiari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Interactive Multimedia Approach to Improving Informed Consent for Induced Pluripotent Stem Cell Research

(2016) Tristan McCaughey et al.   Cell Stem Cell

The use of induced pluripotent stem cells for studying and treating optic neuropathies

(2016) Shahnaz Khan et al.   Current Opinion in Organ Transplantation

Emergence of dorsal-ventral polarity in ESC-derived retinal tissue

(2016) Yuiko Hasegawa et al.   DEVELOPMENT

Structural and molecular changes in the aging choroid: implications for age-related macular degeneration

(2016) K R Chirco et al.   EYE

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration

(2016) Felix Grassmann et al.   GENETICS

Sensitivity of global terrestrial ecosystems to climate variability

(2016) Alistair W. R. Seddon et al.   NATURE

Comparing CRISPR and RNAi-based screening technologies

(2016) Benjamin E Housden et al.   NATURE BIOTECHNOLOGY

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Comparison of Cas9 activators in multiple species

(2016) Alejandro Chavez et al.   NATURE METHODS

How far from the SNP may the causative genes be?

(2016) Aharon Brodie et al.   NUCLEIC ACIDS RESEARCH

An atlas of gene expression and gene co-regulation in the human retina

(2016) Michele Pinelli et al.   NUCLEIC ACIDS RESEARCH

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration

(2016) Felix Grassmann et al.   GENETICS

Histopathological Insights Into Choroidal Vascular Loss in Clinically Documented Cases of Age-Related Macular Degeneration

(2016) Johanna M. Seddon et al.   JAMA Ophthalmology

Retinal Organoids from Pluripotent Stem Cells Efficiently Recapitulate Retinogenesis

(2016) Manuela Völkner et al.   Stem Cell Reports

Complement factor H binding of monomeric C-reactive protein downregulates proinflammatory activity and is impaired with at risk polymorphic CFH variants

(2016) Blanca Molins et al.   Scientific Reports

Essential role of POLDIP2 in Tau aggregation and neurotoxicity via autophagy/proteasome inhibition

(2015) YoungDoo Kim et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Differentiation of human embryonic stem cells into cone photoreceptors through simultaneous inhibition of BMP, TGFβ and Wnt signaling

(2015) Shufeng Zhou et al.   DEVELOPMENT

BORC and BLOC-1: Shared Subunits in Trafficking Complexes

(2015) Lars Langemeyer et al.   DEVELOPMENTAL CELL

Choosing the Right Tool for the Job: RNAi, TALEN, or CRISPR

(2015) Michael Boettcher et al.   MOLECULAR CELL

Genome-scale transcriptional activation by an engineered CRISPR-Cas9 complex

(2015) Silvana Konermann et al.   NATURE

In vivo genome editing using Staphylococcus aureus Cas9

(2015) F. Ann Ran et al.   NATURE

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

(2015) Lars G Fritsche et al.   NATURE GENETICS

Highly efficient Cas9-mediated transcriptional programming

(2015) Alejandro Chavez et al.   NATURE METHODS

Defined Medium Conditions for the Induction and Expansion of Human Pluripotent Stem Cell-Derived Retinal Pigment Epithelium

(2015) Grace E. Lidgerwood et al.   Stem Cell Reviews and Reports

Defined Medium Conditions for the Induction and Expansion of Human Pluripotent Stem Cell-Derived Retinal Pigment Epithelium

(2015) Grace E. Lidgerwood et al.   Stem Cell Reviews and Reports

A novel Bruch's membrane-mimetic electrospun substrate scaffold for human retinal pigment epithelium cells

(2014) Ping Xiang et al.   BIOMATERIALS

A Protein-Tagging System for Signal Amplification in Gene Expression and Fluorescence Imaging

(2014) Marvin E. Tanenbaum et al.   CELL

Genome-Scale CRISPR-Mediated Control of Gene Repression and Activation

(2014) Luke A. Gilbert et al.   CELL

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

(2014) S. Scott Whitmore et al.   EXPERIMENTAL EYE RESEARCH

Ranibizumab and pegaptanib for the treatment of age-related macular degeneration: a systematic review and economic evaluation

(2014) J Colquitt et al.   HEALTH TECHNOLOGY ASSESSMENT

Elevated High-Density Lipoprotein Cholesterol and Age-Related Macular Degeneration: The Alienor Study

(2014) Audrey Cougnard-Grégoire et al.   PLoS One

Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs

(2014) Xiufeng Zhong et al.   Nature Communications

Cell Models to Study Regulation of Cell Transformation in Pathologies of Retinal Pigment Epithelium

(2014) Alla V. Kuznetsova et al.   Journal of Ophthalmology

Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis

(2014) Wan Ling Wong et al.   Lancet Global Health

Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes

(2013) Michael H Farkas et al.   BMC GENOMICS

CRISPR-Mediated Modular RNA-Guided Regulation of Transcription in Eukaryotes

(2013) Luke A. Gilbert et al.   CELL

Nanosecond-laser application in intermediate AMD: 12-month results of fundus appearance and macular function

(2013) Robyn H Guymer et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

HtrA1 is induced by oxidative stress and enhances cell senescence through p38 MAPK pathway

(2013) Supanji et al.   EXPERIMENTAL EYE RESEARCH

CAS9 transcriptional activators for target specificity screening and paired nickases for cooperative genome engineering

(2013) Prashant Mali et al.   NATURE BIOTECHNOLOGY

Targeted genome engineering in human cells with the Cas9 RNA-guided endonuclease

(2013) Seung Woo Cho et al.   NATURE BIOTECHNOLOGY

Seven new loci associated with age-related macular degeneration

(2013) Lars G Fritsche et al.   NATURE GENETICS

RNA-guided gene activation by CRISPR-Cas9–based transcription factors

(2013) Pablo Perez-Pinera et al.   NATURE METHODS

Serine Protease HTRA1 Antagonizes Transforming Growth Factor-β Signaling by Cleaving Its Receptors and Loss of HTRA1 In Vivo Enhances Bone Formation

(2013) Julie R. Graham et al.   PLoS One

RNA-sequencing from single nuclei

(2013) R. V. Grindberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CURRENT KNOWLEDGE AND TRENDS IN AGE-RELATED MACULAR DEGENERATION

(2013) Raul Velez-Montoya et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Self-Formation of Optic Cups and Storable Stratified Neural Retina from Human ESCs

(2012) Tokushige Nakano et al.   Cell Stem Cell

Consequences of oxidative stress in age-related macular degeneration

(2012) Stuart G. Jarrett et al.   MOLECULAR ASPECTS OF MEDICINE

Understanding age-related macular degeneration (AMD): Relationships between the photoreceptor/retinal pigment epithelium/Bruch’s membrane/choriocapillaris complex

(2012) Imran Bhutto et al.   MOLECULAR ASPECTS OF MEDICINE

The accessible chromatin landscape of the human genome

(2012) Robert E. Thurman et al.   NATURE

Complement factor H genotypes impact risk of age-related macular degeneration by interaction with oxidized phospholipids

(2012) P. X. Shaw et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bioprinting for stem cell research

(2012) Savas Tasoglu et al.   TRENDS IN BIOTECHNOLOGY

Advances in Retinal Tissue Engineering

(2012) Matthew Trese et al.   Materials

V-ATPase engagement in autophagic processes

(2011) Dalibor Mijaljica et al.   Autophagy

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency

(2011) Ulrike Friedrich et al.   HUMAN MOLECULAR GENETICS

Complement factor H binds malondialdehyde epitopes and protects from oxidative stress

(2011) David Weismann et al.   NATURE

Self-organizing optic-cup morphogenesis in three-dimensional culture

(2011) Mototsugu Eiraku et al.   NATURE

Overexpression of HTRA1 Leads to Ultrastructural Changes in the Elastic Layer of Bruch's Membrane via Cleavage of Extracellular Matrix Components

(2011) Sarah Vierkotten et al.   PLoS One

Expression and Functional Significance of HtrA1 Loss in Endometrial Cancer

(2010) S. A. Mullany et al.   CLINICAL CANCER RESEARCH

Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina

(2010) Simon J. Clark et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Matrix remodeling as stem cell recruitment event: A novel in vitro model for homing of human bone marrow stromal cells to the site of injury shows crucial role of extracellular collagen matrix

(2010) Joshua Mauney et al.   MATRIX BIOLOGY

The study of eQTL variations by RNA-seq: from SNPs to phenotypes

(2010) Jacek Majewski et al.   TRENDS IN GENETICS

Genetic and Functional Dissection of HTRA1 and LOC387715 in Age-Related Macular Degeneration

(2010) Zhenglin Yang et al.   PLoS Genetics

Autoimmunity in retinal degeneration: Autoimmune retinopathy and age-related macular degeneration

(2009) Kei Morohoshi et al.   JOURNAL OF AUTOIMMUNITY

HtrA1-dependent proteolysis of TGF-β controls both neuronal maturation and developmental survival

(2008) S Launay et al.   CELL DEATH AND DIFFERENTIATION

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

(2008) Lars G Fritsche et al.   NATURE GENETICS

Ranibizumab versus Verteporfin Photodynamic Therapy for Neovascular Age-Related Macular Degeneration: Two-Year Results of the ANCHOR Study

(2008) David M. Brown et al.   OPHTHALMOLOGY