Leber congenital amaurosis: genes, proteins and disease mechanisms

AI Den Hollander, R Roepman, RK Koenekoop… - Progress in retinal and …, 2008 - Elsevier
Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity map** …

Vertebrate neural cell-fate determination: lessons from the retina

FJ Livesey, CL Cepko - Nature Reviews Neuroscience, 2001 - nature.com
Postmitotic neurons are produced from a pool of cycling progenitors in an orderly fashion
during development. Studies of cell-fate determination in the vertebrate retina have …

Electroporation and RNA interference in the rodent retina in vivo and in vitro

T Matsuda, CL Cepko - Proceedings of the National …, 2004 - National Acad Sciences
The large number of candidate genes made available by comprehensive genome analysis
requires that relatively rapid techniques for the study of function be developed. Here, we …

Retinal stem cells in the adult mammalian eye

V Tropepe, BLK Coles, BJ Chiasson, DJ Horsford… - Science, 2000 - science.org
The mature mammalian retina is thought to lack regenerative capacity. Here, we report the
identification of a stem cell in the adult mouse eye, which represents a possible substrate for …

Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation

T Furukawa, EM Morrow, CL Cepko - Cell, 1997 - cell.com
We have isolated a novel otx-like homeobox gene, Crx, from the mouse retina. Crx
expression is restricted to develo** and mature photoreceptor cells. CRX bound and …

The molecular basis of human retinal and vitreoretinal diseases

W Berger, B Kloeckener-Gruissem… - Progress in retinal and eye …, 2010 - Elsevier
During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina

A Swaroop, D Kim, D Forrest - Nature Reviews Neuroscience, 2010 - nature.com
In the develo** vertebrate retina, diverse neuronal subtypes originate from multipotent
progenitors in a conserved order and are integrated into an intricate laminated architecture …

Thyroid hormone signaling specifies cone subtypes in human retinal organoids

KC Eldred, SE Hadyniak, KA Hussey, B Brenerman… - Science, 2018 - science.org
INTRODUCTION Cone photoreceptors in the human retina enable daytime, color, and high-
acuity vision. The three subtypes of human cones are defined by the visual pigment that they …

Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development

A Nishida, A Furukawa, C Koike, Y Tano… - Nature …, 2003 - nature.com
Understanding the molecular mechanisms by which distinct cell fate is determined during
organogenesis is a central issue in development and disease. Here, using conditional gene …

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

MT Dattani, JP Martinez-Barbera, PQ Thomas… - Nature …, 1998 - nature.com
During early mouse development the homeobox gene Hesx1 is expressed in prospective
forebrain tissue, but later becomes restricted to Rathke's pouch, the primordium of the …