James S. Friedman

Learn More
The ongoing revolution in life sciences research is producing vast amounts of genetic and proteomic sequence data. Scientists want to pose increasingly complex queries on this data, but current methods for querying biological sequences are primitive and largely procedural. This limits the ease with which complex queries can be posed, and often results in(More)
The rod photoreceptor-specific neural retina leucine zipper protein Nrl is essential for rod differentiation and plays a critical role in regulating gene expression. In the mouse retina, rods account for 97% of the photoreceptors; however, in the absence of Nrl (Nrl-/-), no rods are present and a concomitant increase in cones is observed. A functional(More)
Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a(More)
Mice lacking the transcription factor Nrl have no rod photoreceptors and an increased number of short-wavelength-sensitive cones. Missense mutations in NRL are associated with autosomal dominant retinitis pigmentosa; however, the phenotype associated with the loss of NRL function in humans has not been reported. We identified two siblings who carried two(More)
We have approached the role of cellular stress in neurodegenerative diseases caused by polyglutamine expansion (polyQ) in the context of Spinocerebellar ataxia type 7 (SCA7) that includes retinal degeneration. Using the R7E mouse, in which polyQ-ataxin-7 is specifically over-expressed in rod photoreceptors, we previously showed that rod dysfunction(More)
PURPOSE To identify the genetic basis of a large consanguineous Spanish pedigree affected with autosomal recessive retinitis pigmentosa (arRP) with premature macular atrophy and myopia. METHODS After a high-throughput cosegregation gene chip was used to exclude all known RP and Leber congenital amaurosis (LCA) candidates, genome-wide screening and linkage(More)
The ongoing revolution in life sciences research is producing vast amounts of genetic and proteomic sequence data. Scientists want to pose increasingly complex queries on this data, but current methods for querying biological sequences are primitive and largely procedural. This limits the ease with which complex queries can be posed, and often results in(More)
The current and ongoing revolution in life sciences research has lead to fantastic achievements such as the sequencing of entire genomes of various organisms. Sequences are ubiquitous in life sciences applications and the sizes of many sequence databases is growing rapidly. At the same time, the complexity of the queries that scientists want to pose on(More)
The rod photoreceptor-specific neural retina leucine zipper protein Nrl is essential for rod differentiation and plays a critical role in regulating gene expression. In the mouse retina, rods account for 97% of the photo-receptors; however, in the absence of Nrl (Nrl 2/2), no rods are present and a concomitant increase in cones is observed. A functional(More)
The rod photoreceptor-specific neural retina leucine zipper protein Nrl is essential for rod differentiation and plays a critical role in regulating gene expression. In the mouse retina, rods account for 97% of the photoreceptors; however, in the absence of Nrl (Nrl −/−), no rods are present and a concomitant increase in cones is observed. A functional(More)
  • 1