Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Cone Photoreceptor Abnormalities Correlate With Vision Loss in a Case of Acute Posterior Multifocal Placoid Pigment Epitheliopathy

(2014) In Hwan Hong et al.   Ophthalmic Surgery Lasers & Imaging Retina

Early Structural Anomalies Observed by High-Resolution Imaging in Two Related Cases of Autosomal-Dominant Retinitis Pigmentosa

(2014) Sung Pyo Park et al.   Ophthalmic Surgery Lasers & Imaging Retina

Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene

(2013) Sung Pyo Park et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults

(2013) Sung Pyo Park et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Retinal Structure and Function in Achromatopsia

(2013) Venki Sundaram et al.   OPHTHALMOLOGY

Stress-Independent Activation of XBP1s and/or ATF6 Reveals Three Functionally Diverse ER Proteostasis Environments

(2013) Matthew D. Shoulders et al.   Cell Reports

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

(2012) Susanne Kohl et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The impact of the unfolded protein response on human disease

(2012) Shiyu Wang et al.   JOURNAL OF CELL BIOLOGY

ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition)

(2011) Donald C. Hood et al.   DOCUMENTA OPHTHALMOLOGICA

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

(2011) L. S. Carvalho et al.   HUMAN MOLECULAR GENETICS

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography

(2011) Mervyn G. Thomas et al.   OPHTHALMOLOGY

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

(2011) P. Walter et al.   SCIENCE

Gene therapy rescues cone function in congenital achromatopsia

(2010) András M. Komáromy et al.   HUMAN MOLECULAR GENETICS

Restoration of Cone Vision in the CNGA3−/− Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function

(2010) Stylianos Michalakis et al.   MOLECULAR THERAPY

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

(2009) Alberta A.H.J. Thiadens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cooperative Phagocytes

(2009) Sandrine Joly et al.   AMERICAN JOURNAL OF PATHOLOGY

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Noninvasive, In Vivo Assessment of Mouse Retinal Structure Using Optical Coherence Tomography

(2009) M. Dominik Fischer et al.   PLoS One

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

(2009) B. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

UPR Pathways Combine to Prevent Hepatic Steatosis Caused by ER Stress-Mediated Suppression of Transcriptional Master Regulators

(2008) D. Thomas Rutkowski et al.   DEVELOPMENTAL CELL

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA