Published in Nat Genet on December 01, 1995
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet (1999) 2.13
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. Proc Natl Acad Sci U S A (2004) 1.78
Gene-based approach to human gene-phenotype correlations. Proc Natl Acad Sci U S A (1997) 1.37
Retinitis pigmentosa: unfolding its mystery. Proc Natl Acad Sci U S A (1996) 1.36
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc Natl Acad Sci U S A (2012) 1.34
Retinal remodeling. Jpn J Ophthalmol (2012) 1.32
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Am J Hum Genet (2011) 1.32
Mechanisms of cell death in the inherited retinal degenerations. Am J Hum Genet (1998) 1.26
The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatment. Br J Ophthalmol (2001) 1.23
Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q). Invest Ophthalmol Vis Sci (2008) 1.22
New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene. Hum Mol Genet (2008) 1.19
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci (2004) 1.19
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet (2000) 1.15
Naturally occurring animal models with outer retina phenotypes. Vision Res (2009) 1.14
Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am J Hum Genet (2010) 1.13
A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet (1998) 1.13
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet (2014) 1.09
The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization. EMBO J (1996) 1.04
Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa. Mol Vis (2013) 1.02
Inhibition of mitochondrial pyruvate transport by zaprinast causes massive accumulation of aspartate at the expense of glutamate in the retina. J Biol Chem (2013) 1.00
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet (1998) 0.99
A screen of zebrafish mutants identifies ethanol-sensitive genetic loci. Alcohol Clin Exp Res (2013) 0.95
Retinal remodeling in human retinitis pigmentosa. Exp Eye Res (2016) 0.95
Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Invest Ophthalmol Vis Sci (2008) 0.94
Halting progressive neurodegeneration in advanced retinitis pigmentosa. J Clin Invest (2015) 0.93
Do calcium channel blockers rescue dying photoreceptors in the Pde6b ( rd1 ) mouse? Adv Exp Med Biol (2010) 0.92
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Genet (2005) 0.91
Clinical and molecular genetics of the phosphodiesterases (PDEs). Endocr Rev (2013) 0.89
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. Mol Vis (2015) 0.87
Therapeutic margins in a novel preclinical model of retinitis pigmentosa. J Neurosci (2013) 0.87
Molecular aspects of retinal degenerative diseases. Cell Mol Neurobiol (2001) 0.86
Novel alternative splice variants of rat phosphodiesterase 7B showing unique tissue-specific expression and phosphorylation. Biochem J (2002) 0.85
Inhibition of the Pim1 oncogene results in diminished visual function. PLoS One (2012) 0.82
Cyclic nucleotide phosphodiesterases: important signaling modulators and therapeutic targets. Oral Dis (2014) 0.81
Matrix metalloproteinase-9 and -2 enhance the ligand sensitivity of photoreceptor cyclic nucleotide-gated channels. Channels (Austin) (2012) 0.81
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. Mol Vis (2007) 0.80
Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. J Biol Chem (2015) 0.79
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Transl Pediatr (2015) 0.79
Effect of the ILE86TER mutation in the γ subunit of cGMP phosphodiesterase (PDE6) on rod photoreceptor signaling. Cell Signal (2011) 0.79
Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration. J Clin Invest (2016) 0.78
Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells. Mol Vis (2013) 0.78
Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina. J Neuroinflammation (2014) 0.78
Reduced photoreceptor death and improved retinal function during retinal degeneration in mice lacking innate immunity adaptor protein MyD88. Exp Neurol (2015) 0.78
Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system. Mol Pathol (1998) 0.77
Expression signature of epidermolysis bullosa simplex. Hum Genet (2011) 0.77
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit. PLoS One (2014) 0.77
Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing. Vision Res (2012) 0.76
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Mol Vis (2016) 0.76
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. Mol Vis (2016) 0.76
Recent advances. Medical genetics. BMJ (1996) 0.75
Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels. Front Physiol (2015) 0.75
RPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner. Biol Open (2016) 0.75
Taking Stock of Retinal Gene Therapy: Looking Back and Moving Forward. Mol Ther (2017) 0.75
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature (1986) 13.96
The integrin alpha v beta 6 binds and activates latent TGF beta 1: a mechanism for regulating pulmonary inflammation and fibrosis. Cell (1999) 11.59
Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature (1983) 11.57
Mutation detection and single-molecule counting using isothermal rolling-circle amplification. Nat Genet (1998) 9.84
B7-DC, a new dendritic cell molecule with potent costimulatory properties for T cells. J Exp Med (2001) 6.97
Revealing the maximum strength in nanotwinned copper. Science (2009) 6.27
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature (1990) 6.19
Exploring the DNA-binding specificities of zinc fingers with DNA microarrays. Proc Natl Acad Sci U S A (2001) 5.08
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science (1994) 4.86
Treatment with a copper-zinc chelator markedly and rapidly inhibits beta-amyloid accumulation in Alzheimer's disease transgenic mice. Neuron (2001) 4.42
Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells. Proc Natl Acad Sci U S A (1990) 4.06
The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. Cell (1996) 3.55
Quantitative interpretation of magnetization transfer. Magn Reson Med (1993) 3.55
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet (1992) 3.51
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet (1993) 3.49
Global analysis of gene expression in pulmonary fibrosis reveals distinct programs regulating lung inflammation and fibrosis. Proc Natl Acad Sci U S A (2000) 3.47
A prognostic score for patients with lower risk myelodysplastic syndrome. Leukemia (2007) 3.45
Point mutational inactivation of the retinoblastoma antioncogene. Science (1989) 3.37
Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol (1984) 3.30
TGF-beta is a critical mediator of acute lung injury. J Clin Invest (2001) 3.29
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron (1992) 3.25
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A (1998) 3.22
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med (1990) 3.21
Smoking duration, intensity, and risk of Parkinson disease. Neurology (2010) 3.19
Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. Cancer Genet Cytogenet (1984) 3.17
'Seed' analysis of off-target siRNAs reveals an essential role of Mcl-1 in resistance to the small-molecule Bcl-2/Bcl-XL inhibitor ABT-737. Oncogene (2006) 3.10
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med (1989) 3.03
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature (1991) 3.00
Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol (1985) 2.98
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A (1991) 2.83
Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res (2000) 2.79
Dramatic aggregation of Alzheimer abeta by Cu(II) is induced by conditions representing physiological acidosis. J Biol Chem (1998) 2.78
Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet (1989) 2.68
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet (2000) 2.66
The fibronectin type III domain as a scaffold for novel binding proteins. J Mol Biol (1998) 2.65
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci U S A (2000) 2.60
Connective tissue growth factor mediates transforming growth factor beta-induced collagen synthesis: down-regulation by cAMP. FASEB J (1999) 2.50
Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med (1984) 2.49
Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet (1991) 2.45
COP9 signalosome-specific phosphorylation targets p53 to degradation by the ubiquitin system. EMBO J (2001) 2.41
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A (1995) 2.41
Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet (2001) 2.40
The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics (1991) 2.39
Watching the growth of bulk grains during recrystallization of deformed metals. Science (2004) 2.38
Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci U S A (1996) 2.36
Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. Proc Natl Acad Sci U S A (1986) 2.30
Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol (1991) 2.26
Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein. Proc Natl Acad Sci U S A (1989) 2.25
A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci U S A (2000) 2.19
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet (1997) 2.19
Measles, mumps, and rubella (MMR) vaccine and autism. Ecological studies cannot answer main question. BMJ (2001) 2.15
Characterization of pp60c-src tyrosine kinase activities using a continuous assay: autoactivation of the enzyme is an intermolecular autophosphorylation process. Biochemistry (1995) 2.13
Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature (1991) 2.12
Regulation of presynaptic terminal organization by C. elegans RPM-1, a putative guanine nucleotide exchanger with a RING-H2 finger domain. Neuron (2000) 2.12
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A (1995) 2.10
Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene (1989) 2.09
Histopathologic findings in Best's vitelliform macular dystrophy. Arch Ophthalmol (1988) 2.06
Pulmonary function after laparoscopic cholecystectomy in the elderly. Br J Surg (1996) 2.06
Prognostic factors for progression-free and overall survival with sunitinib targeted therapy and with cytokine as first-line therapy in patients with metastatic renal cell carcinoma. Ann Oncol (2010) 2.06
Context sequences of translation initiation codon in plants. Plant Mol Biol (1997) 2.05
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet (1999) 2.04
An electroretinographic and molecular genetic study of X-linked cone degeneration. Am J Ophthalmol (1989) 2.03
Neural retinal cell transplantation: ideal versus reality. Ophthalmology (1999) 2.02
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet (1998) 2.00
A general and efficient copper catalyst for the amidation of aryl halides and the N-arylation of nitrogen heterocycles. J Am Chem Soc (2001) 1.99
Leukocyte extravasation into the pancreatic tissue in transgenic mice expressing interleukin 10 in the islets of Langerhans. J Exp Med (1993) 1.94
Residue-based control of helix shape in beta-peptide oligomers. Nature (1997) 1.94
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet (1993) 1.93
The anxiolytic effect of Bifidobacterium longum NCC3001 involves vagal pathways for gut-brain communication. Neurogastroenterol Motil (2011) 1.93
Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. Proc Natl Acad Sci U S A (1998) 1.90
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet (1993) 1.86
Genetic absence of gamma-interferon delays but does not prevent diabetes in NOD mice. Diabetes (1996) 1.85
Oncogenes and tumor-suppressing genes. N Engl J Med (1988) 1.84
Characterization of copper interactions with alzheimer amyloid beta peptides: identification of an attomolar-affinity copper binding site on amyloid beta1-42. J Neurochem (2000) 1.82
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet (1999) 1.81
Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci U S A (1993) 1.81
Architecture for a Web-based clinical information system that keeps the design open and the access closed. Proc AMIA Symp (1998) 1.79
Vascular endothelial growth factor as a marker of tumor endothelium. Cancer Res (1998) 1.78
Human genetics. Deficiencies in sight with the candidate gene approach. Nature (1990) 1.77
Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa. Am J Ophthalmol (1979) 1.75
Dominant retinitis pigmentosa with reduced penetrance. Arch Ophthalmol (1969) 1.73
Rod responses in retinitis pigmentosa, dominantly inherited. Arch Ophthalmol (1968) 1.73
Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma. Nature (1983) 1.71
Induction of type I diabetes by interferon-alpha in transgenic mice. Science (1993) 1.68
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci (1997) 1.67
The diagnosis and treatment of dentinogenic ghost cell tumor. Int J Oral Maxillofac Surg (2009) 1.67