Citation Impact
Citing Papers
Rapid protein fold determination using unassigned NMR data
2003 StandoutNobel
Crystal Structure of Rhodopsin: A G Protein-Coupled Receptor
2000 StandoutScience
Complement Factor H Polymorphism and Age-Related Macular Degeneration
2005 StandoutScience
Transposition-Driven Genomic Heterogeneity in the Drosophila Brain
2013 StandoutScienceNobel
Targeting of Cyclic AMP Degradation to β 2 -Adrenergic Receptors by β-Arrestins
2002 StandoutScienceNobel
Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence
2001
Zur Chemie der „energiereichen Phosphate”, XI. Darstellung von Imidazoliden der Phosphorsäure
1961
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
Digital image processing of intracellular pH in gastric oxyntic and chief cells
1987 StandoutNatureNobel
The dynamin superfamily: universal membrane tubulation and fission molecules?
2004
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness
1997
Myopia
2012 Standout
Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations
2018
The Molecular Biology of Cyclic Nucleotide Phosphodiesterases
1999
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
2003 StandoutNature
Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes
2002
Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome
1990
Confronting Complexity: the Interlink of Phototransduction and Retinoid Metabolism in the Vertebrate Retina
2001
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
1994
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
Detection of thirty novelFBN1mutations in patients with Marfan syndrome or a related fibrillinopathy
2003
Myopia genetics: a review of current research and emerging trends
2009
Nature and nurture: the complex genetics of myopia and refractive error
2010
Alternative RNA splicing in the nervous system
2001
Structure of the GAF domain, a ubiquitous signaling motif and a new class of cyclic GMP receptor
2000
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations
2008
Disease gene mapping in isolated human populations: the example of Finland.
1993
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations
2002
Ganglion-specific splicing of TRPV1 underlies infrared sensation in vampire bats
2011 StandoutNatureNobel
Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci
2001
Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition
2005 Nature
Automated splicing mutation analysis by information theory
2005
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Modified Uridines with C5-methylene Substituents at the First Position of the tRNA Anticodon Stabilize U·G Wobble Pairing during Decoding
2008 StandoutNobel
Purification of component A of Rab geranylgeranyl transferase: Possible identity with the choroideremia gene product
1992 StandoutNobel
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
Genome-Wide Association Studies Reveal Genetic Variants in CTNND2 for High Myopia in Singapore Chinese
2010
Insights into social insects from the genome of the honeybee Apis mellifera
2006 StandoutNature
Role of the sclera in the development and pathological complications of myopia
2003
Membrane curvature and mechanisms of dynamic cell membrane remodelling
2005 StandoutNature
A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
1995
The GEnes in Myopia (GEM) study in understanding the aetiology of refractive errors
2010
G Protein-coupled Receptor Kinase 3 (GRK3) Gene Disruption Leads to Loss of Odorant Receptor Desensitization
1997 StandoutNobel
The epidemiology of age-related macular degeneration
2004
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
2004
Genetics of body-weight regulation
2000 Nature
Sugar Transport
1971
PHOSPHATE BOUND TO HISTIDINE IN A PROTEIN AS AN INTERMEDIATE IN A NOVEL PHOSPHO-TRANSFERASE SYSTEM
1964
Metabolism of phosphoramidates II. Further studies on the Escherichia coli phosphoramidate phosphoryl transfer enzyme
1962
Adipose tissue dynamics and regulation, revisited
2007
Isolation of a candidate gene for choroideremia.
1992
Metabolism of Isolated Fat Cells
1966 StandoutNobel
Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.
1996 StandoutNobel
Amino Acid Transport Systems in Escherichia coli K12
1968
Arsenite transport by mammalian aquaglyceroporins AQP7 and AQP9
2002 StandoutNobel
The Fluid Mosaic Model of the Structure of Cell Membranes
1972 StandoutScience
Carrier transport uphill. I. General
1963
Energization of Active Transport by Escherichia coli
1972 StandoutNobel
Clustering and endocytosis of membrane receptors can be induced in mature erythrocytes of neonatal but not adult humans.
1976 StandoutNobel
Brief Reviews: Magnesium in Heart Muscle
1973
A simple preparation method for diphosphoimidazole
1964
Template-Directed Synthesis with Adenosine-5′-phosphorimidazolide
1968 StandoutScienceNobel
Functional and molecular characterization of the human neutral solute channel aquaporin-9
1999
Formation and Release of a Hormone Antagonist by Rat Adipocytes
1971 StandoutNobel
Nucleoside Polyphosphates. VIII.1 New and Improved Syntheses of Uridine Diphosphate Glucose and Flavin Adenine Dinucleotide Using Nucleoside-5' Phosphoramidates2
1958
Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease
2004
Molecular Biology of Cellular Membranes with Applications to Immunology
1974
Structure of the Site Phosphorylated in the Phosphorylase b to a Reaction
1959 StandoutNobel
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
Isolation and characterization of a phosphorylated intermediate in the (Na+ + K+) system-dependent ATPase
1966
The Preparation, Properties, and Reactions of Succinyl Coenzyme A Synthetase and Its Phosphorylated Form
1967 StandoutNobel
Phosphoproteins
1974
Functional redundancy of cryptochromes and classical photoreceptors for nonvisual ocular photoreception in mice
2000 StandoutNobel
Cyclic nucleotide phosphodiesterases: functional implications of multiple isoforms
1995 Standout
Vitamin D Receptor (VDR) and Group-Specific Component (GC, Vitamin D–Binding Protein) Polymorphisms in Myopia
2011
PROPERTIES OF THE PHOSPHORYLATED ACTIVE SITE OF PHOSPHOGLUCOMUTASE
1957
32P-Labeling of Mitochondrial Protein and Lipid Fractions and Their Relation to Oxidative Phosphorylation
1966 StandoutNobel
Energy Coupling in the Transport of β-Galactosides by Escherichia Coli: Effect of Proton Conductors
1969
Phosphohistidine
1963 StandoutScienceNobel
Inactivation of Ribonuclease by Phosphorylation
1959
The Preparation and Characterization of 1-Phosphohistidine and 3-Phosphohistidine*
1966 StandoutNobel
Properties and Conformation of the Histidine Residues at the Active Site of Ribonuclease
1963 StandoutNobel
Carrier-mediated Transport of the Folic Acid Analogue, Methotrexate, in the L1210 Leukemia Cell
1968
Electrogenic proton transport in epithelial membranes
1982
pH regulation of divalent/monovalent Ca/K cation transport selectivity by a macrocyclic carrier molecule.
1983 StandoutNobel
The purified product of the transforming gene of avian sarcoma virus phosphorylates tyrosine.
1980 StandoutNobel
Free calcium in heart muscle at rest and during contraction measured with Ca2+-sensitive microelectrodes
1980 StandoutNatureNobel
Molecular Genetics of Human Retinal Disease
1999
Aquaglyceroporin AQP9: Solute permeation and metabolic control of expression in liver
2003 StandoutNobel
Metabolism of Isolated Fat Cells
1964 StandoutNobel
Identification of Phosphohistidine in Digests from a Probable Intermediate of Oxidative Phosphorylation
1962 StandoutNobel
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome
2006 StandoutScience
Reactions of the Cyanate Present in Aqueous Urea with Amino Acids and Proteins
1960 StandoutNobel
Gut hormone PYY3-36 physiologically inhibits food intake
2002 StandoutNature
Crop Productivity and Photoassimilate Partitioning
1984 StandoutScience
Occurrence and Characteristics of 18O Exchange Reactions Catalyzed by Sodium- and Potassium-dependent Adenosine Triphosphatases
1973 StandoutNobel
Storage of sugars in stalks of sugar cane
1972
Regulation of Rate of Cartilage Differentiation by Indian Hedgehog and PTH-Related Protein
1996 StandoutScience
On the orientation of lipids in chloroplast and cell membranes
1966
Sodium-calcium exchange and calcium-calcium exchange in internally dialyzed squid giant axons
1975
The structure of disphosphoimidazole
1964
Characterization of two cDNAs encoding folate-binding proteins from L1210 murine leukemia cells. Increased expression associated with a genomic rearrangement.
1991 StandoutNobel
Selective dephosphorylation of proteins containing phosphotyrosine by alkaline phosphatases.
1981 StandoutNobel
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
2004
Works of Thomas Rosenberg being referenced
Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness
1994
Current trends in newly registered blindness in Denmark
1996
RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa
1999
Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation
2000
Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21
1997
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
2002
TGGE screening of the entireFBN1coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
2002
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia
1988
An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
2001
Positional cloning of the gene for X-linked retinitis pigmentosa 2
1998
Identification of mutations in Danish choroideremia families
1993
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40
2001
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the β-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3
1994
Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments
2000
Non-enzymic formation and rupture of phosphorus to nitrogen linkages in phosphoramido derivatives
1956
Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort
2010
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
2002
Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies
2009
Choroideremia: further evidence for assignment of the locus to Xq13?Xq21
1986
COL1A1andCOL2A1Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to theCOL2A1Locus
2009
Choroideremia in interstitial deletion of the X chromosome
1986
Prevalence of blindness caused by senile macular degeneration in Greenland.
1987
An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia
2009
THE CONCEPT OF CARRIER TRANSPORT AND ITS COROLLARIES IN PHARMACOLOGY
1961
Genetic heterogeneity among blue-cone monochromats.
1993