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** …
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity map** …
Vertebrate neural cell-fate determination: lessons from the retina
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 …
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 …
requires that relatively rapid techniques for the study of function be developed. Here, we …
Retinal stem cells in the adult mammalian eye
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
forebrain tissue, but later becomes restricted to Rathke's pouch, the primordium of the …