Congenital stationary night blindness: an analysis and update of genotype–phenotype correlations and pathogenic mechanisms

C Zeitz, AG Robson, I Audo - Progress in retinal and eye research, 2015 - Elsevier
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

Cyclic nucleotide phosphodiesterases: molecular regulation to clinical use

AT Bender, JA Beavo - Pharmacological reviews, 2006 - Elsevier
Cyclic nucleotide phosphodiesterases (PDEs) are enzymes that regulate the cellular levels
of the second messengers, cAMP and cGMP, by controlling their rates of degradation. There …

[HTML][HTML] Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives

AV Garafalo, AV Cideciyan, E Héon, R Sheplock… - Progress in retinal and …, 2020 - Elsevier
Due to improved phenoty** and genetic characterization, the field of 'incurable'and
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …

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 …

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

R Shiang, LM Thompson, YZ Zhu, DM Church… - Cell, 1994 - cell.com
Achondroplasia(ACH) is the most common genetic form of dwarfism. This disorder is
inherited as an autosomal dominant trait, although the majority of cases are sporadic. A …

Clinical and molecular genetics of the phosphodiesterases (PDEs)

MF Azevedo, FR Faucz, E Bimpaki, A Horvath… - Endocrine …, 2014 - academic.oup.com
Cyclic nucleotide phosphodiesterases (PDEs) are enzymes that have the unique function of
terminating cyclic nucleotide signaling by catalyzing the hydrolysis of cAMP and GMP. They …

Cyclic nucleotide phosphodiesterases: functional implications of multiple isoforms

JA Beavo - Physiological reviews, 1995 - journals.physiology.org
In the last few years there has been a veritable explosion of knowledge about cyclic
nucleotide phosphodiesterases. In particular, the accumulating data showing that there are …

Biology and therapy of inherited retinal degenerative disease: insights from mouse models

S Veleri, CH Lazar, B Chang… - Disease models & …, 2015 - journals.biologists.com
Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders

X Xu, AB Wells, DR O'Brien, A Nehorai… - Journal of …, 2014 - jneurosci.org
Recent advances have substantially increased the number of genes that are statistically
associated with complex genetic disorders of the CNS such as autism and schizophrenia. It …

[КНИГА][B] Retina

SJ Ryan - 2013 - books.google.com
Unequalled in scope, depth, and clinical precision, Retina, 5th Edition keeps you at the
forefront of today's new technologies, surgical approaches, and diagnostic and therapeutic …