Modeling Glaucoma: Retinal Ganglion Cells Generated from Induced Pluripotent Stem Cells of Patients with SIX6 Risk Allele Show Developmental Abnormalities

Major review: Molecular genetics of primary open-angle glaucoma

(2017) Yutao Liu et al.   EXPERIMENTAL EYE RESEARCH

Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder?

(2017) Juliana Magdalon et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Wnt signaling promotes axonal regeneration following optic nerve injury in the mouse

(2017) Amit K. Patel et al.   NEUROSCIENCE

Characterizing the “POAGome”: A bioinformatics-driven approach to primary open-angle glaucoma

(2017) Ian D. Danford et al.   PROGRESS IN RETINAL AND EYE RESEARCH

let-7 microRNA regulates neurogliogenesis in the mammalian retina through Hmga2

(2016) Xiaohuan Xia et al.   DEVELOPMENTAL BIOLOGY

In vivo modeling of neuronal function, axonal impairment and connectivity in neurodegenerative and neuropsychiatric disorders using induced pluripotent stem cells

(2016) J.A. Korecka et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Generation of Functional Human Retinal Ganglion Cells with Target Specificity from Pluripotent Stem Cells by Chemically Defined Recapitulation of Developmental Mechanism

(2016) Pooja Teotia et al.   STEM CELLS

Meis1 coordinates a network of genes implicated in eye development and microphthalmia

(2015) S. Marcos et al.   DEVELOPMENT

A novel mouse model of tuberous sclerosis complex (TSC): eye-specific Tsc1-ablation disrupts visual-pathway development

(2015) I. Jones et al.   Disease Models & Mechanisms

Genes, pathways and animal models in primary open-angle glaucoma

(2015) A I Iglesias et al.   EYE

P16INK4a Upregulation Mediated by SIX6 Defines Retinal Ganglion Cell Pathogenesis in Glaucoma

(2015) Dorota Skowronska-Krawczyk et al.   MOLECULAR CELL

MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells

(2015) Ugljesa Djuric et al.   NEUROBIOLOGY OF DISEASE

Differentiation of human ESCs to retinal ganglion cells using a CRISPR engineered reporter cell line

(2015) Valentin M. Sluch et al.   Scientific Reports

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

(2014) Daniëlle G.M. Bosch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Connecting the Retina to the Brain

(2014) Lynda Erskine et al.   ASN Neuro

REDD2-mediated inhibition of mTOR promotes dendrite retraction induced by axonal injury

(2014) B Morquette et al.   CELL DEATH AND DIFFERENTIATION

Hmga2 regulates self-renewal of retinal progenitors

(2014) S. Parameswaran et al.   DEVELOPMENT

Notch signaling differentially regulates Atoh7 and Neurog2 in the distal mouse retina

(2014) K. A. Maurer et al.   DEVELOPMENT

Association of Common SIX6 Polymorphisms With Peripapillary Retinal Nerve Fiber Layer Thickness: The Singapore Chinese Eye Study

(2014) C.-Y. Cheng et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Global Prevalence of Glaucoma and Projections of Glaucoma Burden through 2040

(2014) Yih-Chung Tham et al.   OPHTHALMOLOGY

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

(2014) Megan Ulmer Carnes et al.   PLoS Genetics

ALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the disease

(2014) Elizabeth B. Moloney et al.   Frontiers in Neuroscience

VEGF-A Is Necessary and Sufficient for Retinal Neuroprotection in Models of Experimental Glaucoma

(2013) Richard H. Foxton et al.   AMERICAN JOURNAL OF PATHOLOGY

Genetic Correction of a LRRK2 Mutation in Human iPSCs Links Parkinsonian Neurodegeneration to ERK-Dependent Changes in Gene Expression

(2013) Peter Reinhardt et al.   Cell Stem Cell

Global Transcriptional and Translational Repression in Human-Embryonic-Stem-Cell-Derived Rett Syndrome Neurons

(2013) Yun Li et al.   Cell Stem Cell

Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review

(2013) Soo Khai Ng et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

optix functions as a link between the retinal determination network and the dpp pathway to control morphogenetic furrow progression in Drosophila

(2013) Yumei Li et al.   DEVELOPMENTAL BIOLOGY

Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation–differentiation balance early in life and optic nerve degeneration at old age

(2013) Adriana I. Iglesias et al.   HUMAN MOLECULAR GENETICS

Transcription Factors SOX4 and SOX11 Function Redundantly to Regulate the Development of Mouse Retinal Ganglion Cells

(2013) Ying Jiang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

mTOR complexes in neurodevelopmental and neuropsychiatric disorders

(2013) Mauro Costa-Mattioli et al.   NATURE NEUROSCIENCE

The vast complexity of primary open angle glaucoma: Disease genes, risks, molecular mechanisms and pathobiology

(2013) Sarah F. Janssen et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Alterations in axonal transport motor proteins in sporadic and experimental Parkinson’s disease

(2012) Yaping Chu et al.   BRAIN

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Nucleic Acid and Non-Nucleic Acid-Based Reprogramming of Adult Limbal Progenitors to Pluripotency

(2012) Sowmya Parameswaran et al.   PLoS One

Eye Development and Retinogenesis

(2012) W. Heavner et al.   Cold Spring Harbor Perspectives in Biology

Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma

(2012) Janey L. Wiggs et al.   PLoS Genetics

Pten coordinates retinal neurogenesis by regulating Notch signalling

(2011) Hong Seok Jo et al.   EMBO JOURNAL

Common genetic variants associated with open-angle glaucoma

(2011) Wishal D. Ramdas et al.   HUMAN MOLECULAR GENETICS

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model

(2011) Sara Ricciardi et al.   HUMAN MOLECULAR GENETICS

Cellular senescence and tumor suppressor gene p16

(2011) Hani Rayess et al.   INTERNATIONAL JOURNAL OF CANCER

Glaucoma

(2011) Harry A Quigley   LANCET

Eye development genes and known syndromes

(2011) Anne M. Slavotinek   MOLECULAR GENETICS AND METABOLISM

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand et al.   NATURE

The molecular basis of retinal ganglion cell death in glaucoma

(2011) Mohammadali Almasieh et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Understanding glaucomatous damage: Anatomical and functional data from ocular hypertensive rodent retinas

(2011) Manuel Vidal-Sanz et al.   PROGRESS IN RETINAL AND EYE RESEARCH

COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis

(2010) K. Tang et al.   DEVELOPMENT

Tsc2-Rheb signaling regulates EphA-mediated axon guidance

(2010) Duyu Nie et al.   NATURE NEUROSCIENCE

The expression and roles of inhibitor of DNA binding helix-loop-helix proteins in the developing and adult mouse retina

(2010) Y. Du et al.   NEUROSCIENCE

Distal axonopathy with structural persistence in glaucomatous neurodegeneration

(2010) S. D. Crish et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutant LRRK2 R1441G BAC transgenic mice recapitulate cardinal features of Parkinson's disease

(2009) Yanping Li et al.   NATURE NEUROSCIENCE

Primary Open-Angle Glaucoma

(2009) Young H. Kwon et al.   NEW ENGLAND JOURNAL OF MEDICINE

PrimerBank: a resource of human and mouse PCR primer pairs for gene expression detection and quantification

(2009) Athanasia Spandidos et al.   NUCLEIC ACIDS RESEARCH

KLF Family Members Regulate Intrinsic Axon Regeneration Ability

(2009) D. L. Moore et al.   SCIENCE

Hmga2 Promotes Neural Stem Cell Self-Renewal in Young but Not Old Mice by Reducing p16Ink4a and p19Arf Expression

(2008) Jinsuke Nishino et al.   CELL

Dual requirement for Pax6 in retinal progenitor cells

(2008) V. Oron-Karni et al.   DEVELOPMENT

Evidence for an evolutionary conserved role of homothorax/Meis1/2 during vertebrate retina development

(2008) P. Heine et al.   DEVELOPMENT

Human ES cell-derived neural rosettes reveal a functionally distinct early neural stem cell stage

(2008) Y. Elkabetz et al.   GENES & DEVELOPMENT

Retinal Ganglion Cells Downregulate Gene Expression and Lose Their Axons within the Optic Nerve Head in a Mouse Glaucoma Model

(2008) I. Soto et al.   JOURNAL OF NEUROSCIENCE

Gene-regulation logic in retinal ganglion cell development: Isl1 defines a critical branch distinct from but overlapping with Pou4f2

(2008) X. Mu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Promoting Axon Regeneration in the Adult CNS by Modulation of the PTEN/mTOR Pathway

(2008) K. K. Park et al.   SCIENCE

Role of mTOR in physiology and pathology of the nervous system

(2007) Lukasz Swiech et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS