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Molecular characterisation of soft tissue tumours: a gene expression study
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Genomics of the origin and evolution of Citrus
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Oxidative stress and regulation of glutathione in lung inflammation
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Activation and inactivation steps in the visual transduction pathway
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A type VII myosin encoded by the mouse deafness gene shaker-1
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The molecular genetics of Usher syndrome
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ABCA4 Gene Sequence Variations in Patients With Autosomal Recessive Cone-Rod Dystrophy
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Biochemical defects in ABCR protein variants associated with human retinopathies
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Genetic diversity and differentiation in Eryngium alpinum L. (Apiaceae): comparison of AFLP and microsatellite markers
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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
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Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy
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A Whole-Genome Screen of a Quantitative Trait of Age-Related Maculopathy in Sibships from the Beaver Dam Eye Study
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Crystallin γB-I4F Mutant Protein Binds to α-Crystallin and Affects Lens Transparency
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Insights into social insects from the genome of the honeybee Apis mellifera
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The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial
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A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
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Subnuclear segregation of genes and core promoter factors in myogenesis
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Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
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CED-1 Is a Transmembrane Receptor that Mediates Cell Corpse Engulfment in C. elegans
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Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
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Nicotine and sympathetic neurotransmission
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Simple and Complex ABCR: Genetic Predisposition to Retinal Disease
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The epidemiology of retinitis pigmentosa in Denmark
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Understanding the etiology of Stargardt's disease
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The importance of glutathione in human disease
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The ABCR Gene in Recessive and Dominant Stargardt Diseases: A Genetic Pathway in Macular Degeneration
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Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
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RPGRmutation analysis and disease: an update
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Constitutive Activation of Photoreceptor Guanylate Cyclase by Y99C Mutant of GCAP-1
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Photoreceptor IFT Complexes Containing Chaperones, Guanylyl Cyclase 1 and Rhodopsin
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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
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Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
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Rpe65 Is the Retinoid Isomerase in Bovine Retinal Pigment Epithelium
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Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
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Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
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Molecular genetics of macular degeneration
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Mutations in the RPGR gene cause X-linked cone dystrophy
2002
Genetic structure and domestication history of the grape
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A catechol- O -methyltransferase that is essential for auditory function in mice and humans
2008 StandoutNobel
Tumour stem cells and drug resistance
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A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.
2000
Nanozymes: Classification, Catalytic Mechanisms, Activity Regulation, and Applications
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Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci
1994 Science
The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling
2005 Standout
Defective lymphocyte chemotaxis in β-arrestin2- and GRK6-deficient mice
2002 StandoutNobel
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.
2002
ABCR unites what ophthalmologists divide(s)
1998
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
1998
Guanylyl Cyclases and Signaling by Cyclic GMP
2000 Standout
Coordinated Transcriptional Regulation of theunc-25Glutamic Acid Decarboxylase and theunc-47GABA Vesicular Transporter by theCaenorhabditis elegansUNC-30 Homeodomain Protein
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Aggregation-Induced Emission: Together We Shine, United We Soar!
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Guanylyl Cyclases as a Family of Putative Odorant Receptors
2000
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
2001
DAF-16 Target Genes That Control C. elegans Life-Span and Metabolism
2003 StandoutScienceNobel
Functional redundancy of cryptochromes and classical photoreceptors for nonvisual ocular photoreception in mice
2000 StandoutNobel
Guanfacine
1986
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
2000
Conservation and divergence of methylation patterning in plants and animals
2010 Standout
The Usher syndromes
1999
Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone–rod dystrophy
1999
Genetic Dissection of Complex Traits
1994 StandoutScience
Spatiotemporal dynamics of guanosine 3′,5′-cyclic monophosphate revealed by a genetically encoded, fluorescent indicator
2001 StandoutNobel
Emotion Circuits in the Brain
2000 Standout
Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles
2005
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function
2004
Molecular Genetics of Human Retinal Disease
1999
Disruption of a Retinal Guanylyl Cyclase Gene Leads to Cone-Specific Dystrophy and Paradoxical Rod Behavior
1999
Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies
2004
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3
2003
Renal-retinal syndromes: Association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus
1998
Defective myosin VIIA gene responsible for Usher syndrome type IB
1995 Nature
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
2003
Lamin B1 controls oxidative stress responses via Oct-1
2009
An update on the genetics of age-related macular degeneration
2007
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
1997 Science
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
2003
Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2 (ABCA2).
2001
USHER SYNDROME : From Genetics to Pathogenesis
2001
Mutational analysis and clinical correlation in Leber congenital amaurosis
2000
Organization of β-adrenoceptor signaling compartments by sympathetic innervation of cardiac myocytes
2007 StandoutNobel
Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR -mediated retinal and macular degeneration
2000
Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.
1998
Works of S. Gerber being referenced
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis
2002
Retinitis Punctata Albescens Associated With the Arg135Trp Mutation in the Rhodopsin Gene
1996
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin
2002
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study
1999
Leber Congenital Amaurosis
1999
Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
2004
A gene for usher syndrome type I (USH1A) maps to chromosome 14q
1992
Exclusion of the cone-specific ?-subunit of the transducin gene in Stargardt's disease
1995
Amaurose congénitale de Leber : le point sur l’hétérogénéité génétique, actualisation de la définition clinique
2005
A gene for Leber's congenital amaurosis maps to chromosome 17p
1995
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II
2007
Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis
1996
Genetic Heterogeneity of Usher Syndrome Type 1 in French Families
1994
Species relative abundance and direction of introgression in oaks
2009
Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease
1998
Spectrum of retGC1 mutations in Leber's congenital amaurosis
2000
The ABCR Gene: A Major Disease Gene in Macular and Peripheral Retinal Degenerations with Onset from Early Childhood to the Elderly
1999
Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis
2004
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
1993
The photoreceptor cell-specific nuclear receptor gene ( PNR ) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
2000
Structure and refinement of the physical mapping of the γ-glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma
1998
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
2001
Nicotine-induced exocytotic norepinephrine release in guinea-pig heart, human atrium and bovine adrenal chromaffin cells: Modulation by single components of ischaemia
1995
Dsal polymorphism at the human cone transducin α-subunit (GNAT2) detected by PCR
1994
Comparison of microsatellites and amplified fragment length polymorphism markers for parentage analysis
2000
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13
1996
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
1998
Blood pressure and prolactin: effects of guanfacine. Three-year follow-up study.
1981
Seed gene flow and fine-scale structure in a Mediterranean pine (Pinus pinaster Ait.) using nuclear microsatellite markers
2002
No evidence of genetic heterogeneity in dominant optic atrophy.
1995
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.
1995
Severe manifestations in carrier females in X linked retinitis pigmentosa.
1997
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus
1999
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
2001
2003
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
1999
Evidence for a fourth locus in Usher syndrome type I.
1996
ABCR gene analysis in familial exudative age-related macular degeneration.
2000
Role of [Na+]i and [Ca2+]i in nicotine-induced norepinephrine release from bovine adrenal chromaffin cells
1995