Citation Impact
Citing Papers
Integrative genomic and functional analyses reveal neuronal subtype differentiation bias in human embryonic stem cell lines
2007 StandoutNobel
Immune Rejection of Mouse Tumors Expressing Mutated Self
2009 StandoutNobel
Stopped-flow Fluorescence Studies of Inhibitor Binding to Tyrosinase from Streptomyces antibioticus
2004
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)
2020
Wearable Wireless Tyrosinase Bandage and Microneedle Sensors: Toward Melanoma Screening
2018
Function and Structure of a Prokaryotic Formylglycine-generating Enzyme
2008 StandoutNobel
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function
1993
Microcephaly Syndromes
2007
Hedgehog: functions and mechanisms
2008 Standout
Protein Kinase C-β Activates Tyrosinase by Phosphorylating Serine Residues in Its Cytoplasmic Domain
1999
Keap1 represses nuclear activation of antioxidant responsive elements by Nrf2 through binding to the amino-terminal Neh2 domain
1999 Standout
Melanocyte Differentiation Marker gp75, the Brown Locus Protein, Can Be Regulated Independently of Tyrosinase and Pigmentation
1995
Molecular imaging in living subjects: seeing fundamental biological processes in a new light
2003 Standout
Disruption of a Homolog of Trithorax by 11q23 Translocations: Leukemogenic and Transcriptional Implications
1997
Mitochondrial oxidative phosphorylation defects in parkinson's disease
1991
Human Genital Melanocytes as Androgen Target Cells
1997
Wearable biosensors for healthcare monitoring
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Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
The role of autophagy in neurodegenerative disease
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Glucocorticoid Stimulates Melanogenesis and Tyrosinase Gene Expression in B16 Melanoma Cells
1991
Prediction of the Coding Sequences of Unidentified Human Genes. II. The Coding Sequences of 40 New Genes (KIAA0041-KIAA0080) Deduced by Analysis of cDNA Clones from Human Cell Line KG-1
1994
Tyrosinase isoenzymes in mammalian melanocytes
1993
Senescent Cells, Tumor Suppression, and Organismal Aging: Good Citizens, Bad Neighbors
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Targeted Disruption of the Melanocortin-4 Receptor Results in Obesity in Mice
1997 Standout
Autophagy: Renovation of Cells and Tissues
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Primary open-angle glaucoma
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Mitochondria: In Sickness and in Health
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Myasthenia Gravis
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The Regulatory Basis of Melanogenic Switching
2002
Pteridines in the Control of Pigmentation
1997
Autophagy in the Pathogenesis of Disease
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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
1998
Myocardial Substrate Metabolism in the Normal and Failing Heart
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Induction of tyrosinase in human melanoma cells by l-tyrosine phosphate and cytochalasin D
1992
α‐MSH Can Control the Essential Cofactor 6‐Tetrahydrobiopterin in Melanogenesis
1999
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function ofsonic hedgehog?
1996
P2X and P2Y purinoceptor expression in pancreas from streptozotocin-diabetic rats
2003
Hormonal stimulation of tyrosinase activity in human foreskin organ cultures
1990
Physiology and Pathophysiology of Purinergic Neurotransmission
2007 Standout
Correction of the Enzymatic and Functional Deficits in a Model of Pompe Disease Using Adeno-associated Virus Vectors
2002
Conjugation of Mannose 6-Phosphate-containing Oligosaccharides to Acid α-Glucosidase Improves the Clearance of Glycogen in Pompe Mice
2004
Regulation of Melanin Biosynthesis in the Human Epidermis by Tetrahydrobiopterin
1994 Science
Mycobacterium tuberculosis Rv3406 Is a Type II Alkyl Sulfatase Capable of Sulfate Scavenging
2013 StandoutNobel
Control of mitochondrial β-oxidation flux
2002
Site-specific chemical protein conjugation using genetically encoded aldehyde tags
2012 StandoutNobel
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
1990 StandoutNature
Chapter 13 Long‐Range Gene Control and Genetic Disease
2008
Zika Virus and Birth Defects — Reviewing the Evidence for Causality
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Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
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Substrate reduction therapy
2008
Reading, writing and erasing mRNA methylation
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Diabetes mellitus in Macaca mulatta monkeys is characterised by islet amyloidosis and reduction in beta-cell population
1993
Autophagy and Mistargeting of Therapeutic Enzyme in Skeletal Muscle in Pompe Disease
2006
Cohesin Rec8 is required for reductional chromosome segregation at meiosis
1999 StandoutNatureNobel
Pro-opiomelanocortin-Related Peptides, Prohormone Convertases 1 and 2 and the Regulatory Peptide 7B2 are Present in Melanosomes of Human Melanocytes
2000
Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins
1993 StandoutNobel
Human pigmentation genetics: the difference is only skin deep
1998
Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
1989
Chronic systemic pesticide exposure reproduces features of Parkinson's disease
2000 Standout
Lysosome-targeting chimaeras for degradation of extracellular proteins
2020 StandoutNatureNobel
Altered Axonal Mitochondrial Transport in the Pathogenesis of Charcot-Marie-Tooth Disease from Mitofusin 2 Mutations
2007
Delayed decreases in specific brain mitochondrial electron transfer complex activities and cytochrome concentrations following anoxia/ischemia
1990
Subtraction hybridisation and shot-gun sequencing: a new approach to identify symbiotic loci
1994 StandoutNobel
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship
2005
Spatial partitioning of the regulatory landscape of the X-inactivation centre
2012 StandoutNature
Induction of Tyrosinase Gene Transcription in Human Iris Organ Cultures Exposed to Latanoprost
2001
Transmembrane Regions V and VI of the Human Luteinizing Hormone Receptor Are Required for Constitutive Activation by a Mutation in the Third Intracellular Loop
1996 StandoutNobel
Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle
2008
Structural Instability of a Constitutively Active G Protein-coupled Receptor
1997 StandoutNobel
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Tyrosinases from two different loci are expressed by normal and by transformed melanocytes.
1991
The bkdR gene of Pseudomonas putida is required for expression of the bkd operon and encodes a protein related to Lrp of Escherichia coli
1993
The 26S Proteasome: A Molecular Machine Designed for Controlled Proteolysis
1999 Standout
The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature
2003
Copper Active Sites in Biology
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β 2 -Adrenergic receptor regulation by GIT1, a G protein-coupled receptor kinase-associated ADP ribosylation factor GTPase-activating protein
1998 StandoutNobel
Color and genomic ancestry in Brazilians
2002 Standout
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
How mitochondria produce reactive oxygen species
2008 Standout
Regulation of the Catalytic Activity of Preexisting Tyrosinase in Black and Caucasian Human Melanocyte Cell Cultures
2001
Melanosomal pH Controls Rate of Melanogenesis, Eumelanin/Phaeomelanin Ratio and Melanosome Maturation in Melanocytes and Melanoma Cells
2001
Nonhuman primate models of atherosclerosis: Potential for the study of diabetes mellitus and hyperinsulinemia
1985
Oxidative Stress and Diabetic Complications
2010 Standout
Multilineage Differentiation from Human Embryonic Stem Cell Lines
2001
SULFATASES AND HUMAN DISEASE
2005
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Defective tetrahydrobiopterin and catecholamine biosynthesis in the depigmentation disorder vitiligo
1994
Mitochondrial myopathies
1985
Polydopamine and Its Derivative Materials: Synthesis and Promising Applications in Energy, Environmental, and Biomedical Fields
2014 Standout
Human pigmentation genes: identification, structure and consequences of polymorphic variation
2001
The Interaction and Colocalization of Sam68 with the Splicing-associated Factor YT521-B in Nuclear Dots Is Regulated by the Src Family Kinase p59fyn
1999
Enzymatic control of pigmentation in mammals
1991
Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.
1994
Ischemic Cell Death in Brain Neurons
1999 Standout
Mechanisms of Diabetic Complications
2013 Standout
β-Cell Deficit and Increased β-Cell Apoptosis in Humans With Type 2 Diabetes
2003 Standout
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
1992
Antagonism of Central Melanocortin Receptors in Vitro and in Vivo by Agouti-Related Protein
1997 StandoutScience
Use of a cDNA microarray to analyse gene expression patterns in human cancer
1996 Standout
What controls melanogenesis?
1998
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
2002
The Importance of Diagnostic Cytogenetics on Outcome in AML: Analysis of 1,612 Patients Entered Into the MRC AML 10 Trial
1998 Standout
The Complete Nucleotide Sequence of the Human Immunoglobulin Heavy Chain Variable Region Locus
1998 StandoutNobel
The mouse tyrosinase gene. Promoter modulation by positive and negative regulatory elements.
1994
α-melanocyte stimulating hormone and its analogue nle4dphe7α-MSH affect morphology, tyrosinase activity and melanogenesis in cultured human melanocytes
1994
Works of George Hoganson being referenced
Bromodeoxyuridine- and cyclic AMP-mediated regulation of tyrosinase in Syrian hamster melanoma cells
1990
Very‐long‐chain acyl‐CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane
1998
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
2017
Regulation of tyrosinase mRNA levels in mouse melanoma cell clones by melanocyte-stimulating hormone and cyclic AMP
1989
Hormonal Regulation of Melanogenesis in Mouse Melanoma and in Human Melanocytes
1993
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome
1995
Phylogenetic comparisons of the branched-chain α-ketoacid dehydrogenase complex
1990
Canine Heparan Sulfate Sulfamidase and the Molecular Pathology Underlying Sanfilippo Syndrome Type A in Dachshunds
2000
Role of Tyrosinase as the Determinant of Pigmentation in Cultured Human Melanocytes
1993
Down-regulation of tyrosinase mRNA levels in melanoma cells by tumor promoters and by insulin
1990
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening
2003
Cytochrome c oxidase deficiency in leigh syndrome
1987
The human RD protein is closely related to nuclear RNA-binding proteins and has been highly conserved
1990
Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
2001
Recombinant human acid ??-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
2001
Streptozotocin Diabetes in the Monkey: Plasma Levels of Glucose, Insulin, Glucagon, and Somatostatin, with Corresponding Morphometric Analysis of Islet Endocrine Cells
1980
DEFICIENCY OF MUSCLE CYTOCHROME C OXIDASE (CO) IN LEIGH'S DISEASE
1984