Search Results - "Smallwood, P M"
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1
Fibroblast Growth Factor (FGF) Homologous Factors: New Members of the FGF Family Implicated in Nervous System Development
Published in Proceedings of the National Academy of Sciences - PNAS (03-09-1996)“…Four new members of the fibroblast growth factor (FGF) family, referred to as fibroblast growth factor homologous factors (FHFs), have been identified by a…”
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2
Vascular Development in the Retina and Inner Ear: Control by Norrin and Frizzled-4, a High-Affinity Ligand-Receptor Pair
Published in Cell (19-03-2004)“…Incomplete retinal vascularization occurs in both Norrie disease and familial exudative vitreoretinopathy (FEVR). Norrin, the protein product of the Norrie…”
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3
Frizzled-3 Is Required for the Development of Major Fiber Tracts in the Rostral CNS
Published in The Journal of neuroscience (01-10-2002)“…Many ligand/receptor families are known to contribute to axonal growth and targeting. Thus far, there have been no reports implicating Wnts and Frizzleds in…”
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4
A new secreted protein that binds to Wnt proteins and inhibits their activities
Published in Nature (London) (01-04-1999)“…The Wnt proteins constitute a large family of extracellular signalling molecules that are found throughout the animal kingdom and are important for a wide…”
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5
Biochemical defects in ABCR protein variants associated with human retinopathies
Published in Nature genetics (01-10-2000)“…Mutations in the gene encoding ABCR (ABCA4), a photoreceptor-specific ATP-binding cassette (ABC) transporter, are responsible for autosomal recessive Stargardt…”
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6
Identification and Characterization of All-trans-retinol Dehydrogenase from Photoreceptor Outer Segments, the Visual Cycle Enzyme That Reduces All-trans-retinal to All-trans-retinol
Published in The Journal of biological chemistry (14-04-2000)“…Retinol dehydrogenase (RDH), the enzyme that catalyzes the reduction of all-trans-retinal to all-trans-retinol within the photoreceptor outer segment, was the…”
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7
Influence of thyroid hormone status on expression of genes encoding G protein subunits in the rat heart
Published in The Journal of biological chemistry (25-02-1990)“…We have studied the influence of thyroid hormone status in vivo on expression of the genes encoding guanine nucleotide-binding regulatory protein (G protein)…”
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8
Biochemical Characterization of Wnt-Frizzled Interactions Using a Soluble, Biologically Active Vertebrate Wnt Protein
Published in Proceedings of the National Academy of Sciences - PNAS (30-03-1999)“…Biochemical studies of Wnt signaling have been hampered by difficulties in obtaining large quantities of soluble, biologically active Wnt proteins. In this…”
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9
Role of a Locus Control Region in the Mutually Exclusive Expression of Human Red and Green Cone Pigment Genes
Published in Proceedings of the National Academy of Sciences - PNAS (22-01-2002)“…Trichromacy in humans and other Old World primates evolved from a dichromatic color vision system ≈30-40 million years ago. One essential part of this…”
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10
A Family of Secreted Proteins Contains Homology to the Cysteine-Rich Ligand-Binding Domain of Frizzled Receptors
Published in Proceedings of the National Academy of Sciences - PNAS (01-04-1997)“…This paper describes the identification of a new family of mammalian genes that encode secreted proteins containing homology to the cysteine-rich…”
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11
Genetic Deficiency of the α Subunit of the Guanine Nucleotide-Binding Protein Gs as the Molecular Basis for Albright Hereditary Osteodystrophy
Published in Proceedings of the National Academy of Sciences - PNAS (01-01-1988)“…Patients who have pseudohypoparathyroidism type I associated with Albright hereditary osteodystrophy commonly have a genetic deficiency of the α subunit of the…”
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12
A Photoreceptor-Specific Cadherin Is Essential for the Structural Integrity of the Outer Segment and for Photoreceptor Survival
Published in Neuron (Cambridge, Mass.) (06-12-2001)“…A cadherin family member, prCAD, was identified in retina cDNA by subtractive hybridization and high throughput sequencing. prCAD is expressed only in retinal…”
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13
Genetically Engineered Mice with an Additional Class of Cone Photoreceptors: Implications for the Evolution of Color Vision
Published in Proceedings of the National Academy of Sciences - PNAS (30-09-2003)“…Among eutherian mammals, only primates possess trichromatic color vision. In Old World primates, trichromacy was made possible by a visual pigment gene…”
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14
Isoform Diversity among Fibroblast Growth Factor Homologous Factors Is Generated by Alternative Promoter Usage and Differential Splicing
Published in The Journal of biological chemistry (28-01-2000)“…Fibroblast growth factor (FGF) homologous factors-1, -2, -3, and -4 (FHFs 1–4; also referred to as FGFs 11–14) comprise a separate branch of the FGF family and…”
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15
Mutually Exclusive Expression of Human Red and Green Visual Pigment-Reporter Transgenes Occurs at High Frequency in Murine Cone Photoreceptors
Published in Proceedings of the National Academy of Sciences - PNAS (27-04-1999)“…This study examines the mechanism of mutually exclusive expression of the human X-linked red and green visual pigment genes in their respective cone…”
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16
Proximal and Distal Sequences Control UV Cone Pigment Gene Expression in Transgenic Zebrafish
Published in The Journal of biological chemistry (30-04-2004)“…The molecular basis of cone photoreceptor-specific gene expression is largely unknown. In this study, we define cis-acting DNA sequences that control the cell…”
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Norrin, Frizzled-4, and Lrp5 Signaling in Endothelial Cells Controls a Genetic Program for Retinal Vascularization
Published in Cell (16-10-2009)“…Disorders of vascular structure and function play a central role in a wide variety of CNS diseases. Mutations in the Frizzled-4 (Fz4) receptor, Lrp5…”
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18
Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy
Published in The New England journal of medicine (17-05-1990)“…Albright's hereditary osteodystrophy is an autosomal dominant disorder characterized by a short stature, brachydactyly, subcutaneous ossifications, and reduced…”
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Identification and Characterization of a Conserved Family of Protein Serine/Threonine Phosphatases Homologous to Drosophila Retinal Degeneration C (rdgC)
Published in Proceedings of the National Academy of Sciences - PNAS (14-10-1997)“…The Drosophila retinal degeneration C (rdgC) gene encodes an unusual protein serine/threonine phosphatase in that it contains at least two EF-hand motifs at…”
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20
A new secreted protein that binds to Wnt proteins and inhibits their activites
Published in Nature (London) (01-04-1999)“…The Wnt proteins constitute a large family of extracellular signalling molecules that are found throughout the animal kingdom and are important for a wide…”
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