Citation Impact
Citing Papers
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
2005 Standout
SNARE Function Analyzed in Synaptobrevin/VAMP Knockout Mice
2001 StandoutScienceNobel
Structural Roles for Human Translation Factor eIF3 in Initiation of Protein Synthesis
2005 StandoutScienceNobel
Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).
1995
Mutations within the hMLH1 and hPMS2 Subunits of the Human MutLα Mismatch Repair Factor Affect Its ATPase Activity, but Not Its Ability to Interact with hMutSα
2002
Expression of X‐linked genes in androgenetic, gynogenetic, and normal mouse preimplantation embryos
1995
Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase
1993 StandoutNobel
A yeast artificial chromosome covering the tyrosinase gene confers copy number-dependent expression in transgenic mice
1993 Nature
Characterization of the pufferfish (Fugu) genome as a compact model vertebrate genome
1993 StandoutNatureNobel
Transcriptional regulator of programmed cell death encoded by Caenorhabditis elegans gene ces-2
1996 StandoutNatureNobel
Glucose-6-phosphate dehydrogenase deficiency and malaria
1998
Genome-wide analysis of DNA copy-number changes using cDNA microarrays
1999
Influence of Metabolism on Epigenetics and Disease
2013 StandoutNobel
Mismatch repair and DNA damage signalling
2004
Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
2007 StandoutNobel
Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants
2000
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
1999 Standout
Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes
1999
Tackling a weighty problem
1992
An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs
1987 Standout
Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP + molecule and provides insights into enzyme deficiency
2000
The generation of diversity and pattern in animal development
1992 StandoutNobel
Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase
1996
Eating disorder and epilepsy in mice lacking 5-HT2C serotonin receptors
1995 StandoutNatureNobel
A Physical Map of Human Chromosome 7: An Integrated YAC Contig Map with Average STS Spacing of 79 kb
1997
A proposed path by which genes common to mammalian X and Y chromosomes evolve to become X inactivated
1998 Nature
Dyskeratosis Congenita (DC) Registry: identification of new features of DC
1998
Endonucleolytic Function of MutLα in Human Mismatch Repair
2006 StandoutNobel
The Oncogenic Cysteine-rich LIM domain protein Rbtn2 is essential for erythroid development
1994 StandoutNobel
Positional cloning of the mouse obese gene and its human homologue
1994 StandoutNature
Telomere Dysfunction Increases Mutation Rate and Genomic Instability
2001 StandoutNobel
The CpG island in the 5′ region of the G6PD gene of man and mouse
1991
Promoter Function of the Human Glucose‐6‐Phosphate Dehydrogenase Gene Depends on Two GC Boxes that are Cell Specifically Controlled
1994
Limb malformations and the human HOX genes
2002
DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase
1989 StandoutNobel
Short Telomeres, even in the Presence of Telomerase, Limit Tissue Renewal Capacity
2005 StandoutNobel
Escape from X inactivation
2002
A nuclear pore complex protein that contains zinc finger motifs, binds DNA, and faces the nucleoplasm
1993 StandoutNobel
Complexins Regulate a Late Step in Ca2+-Dependent Neurotransmitter Release
2001 StandoutNobel
YACs and the C. elegans genome
1991 StandoutNobel
X-inactivation profile reveals extensive variability in X-linked gene expression in females
2005 StandoutNature
The C. elegans genome sequencing project: a beginning
1992 StandoutNatureNobel
Membrane Fusion
2003 StandoutNobel
Impaired production of nitric oxide, superoxide, and hydrogen peroxide in glucose 6‐phosphate‐dehydrogenase‐deficient granulocytes
1998
Adrenergic signals direct rhythmic expression of transcriptional represser CREM in the pineal gland
1993 Nature
G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype
1994
Polymorphisms in 1-Carbon Metabolism, Epigenetics and Folate-Related Pathologies
2011
Dyskeratosis congenita in all its forms
2000
Molecular portraits of human breast tumours
2000 StandoutNature
Segmental expression of Hoxb-1 is controlled by a highly conserved autoregulatory loop dependent upon exd/pbx
1995 StandoutNobel
Glucose-6-phosphate dehydrogenase deficiency
2000
G6PD: Population genetics and clinical manifestations
1996
Visualizing an Olfactory Sensory Map
1996 StandoutNobel
Translational activation of the lck proto-oncogene
1988 StandoutNatureNobel
Integrase-mediated spacer acquisition during CRISPR–Cas adaptive immunity
2015 StandoutNatureNobel
The Drosophila takeout Gene Is a Novel Molecular Link between Circadian Rhythms and Feeding Behavior
2000 StandoutNobel
Glucose-6-Phosphate Dehydrogenase Deficiency
2016
TGFα deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice
1993 StandoutNobel
Disruption of c-mos causes parthenogenetic development of unfertilized mouse eggs
1994 StandoutNatureNobel
A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression
1999
Dyskeratosis congenita: its link to telomerase and aplastic anaemia
2003
Local Supercoil-Stabilized DNA Structure
1991
C. elegans cell survival gene ced-9 encodes a functional homolog of the mammalian proto-oncogene bcl-2
1994 StandoutNobel
Cloning and expression of the mouse pgk-1 gene and the nucleotide sequence of its promoter
1987
Fluorescent indicators for Ca2+based on green fluorescent proteins and calmodulin
1997 StandoutNatureNobel
In vivo alteration of telomere sequences and senescence caused by mutated Tetrahymena telomerase RNAs
1990 StandoutNatureNobel
Selective Activation of Cognate SNAREpins by Sec1/Munc18 Proteins
2007 StandoutNobel
Heterogeneous gene expression from the inactive X chromosome: An X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others
1999
Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East.
1990
Checkpoints: Controls That Ensure the Order of Cell Cycle Events
1989 StandoutScienceNobel
Lynch Syndrome Genes
2005
An appraisal of the application of recombinant DNA techniques to chromosome defects
1985
Molecular Analysis of Eight Biochemically Unique Glucose-6-Phosphate Dehydrogenase Variants Found in Japan
1997
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia
1997
MECHANISMS OF X-CHROMOSOME REGULATION
1988
Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq
2000
A first-generation X-inactivation profile of the human X chromosome
1999
Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension.
1995 StandoutNobel
Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-.
1991
Adenylyl Cyclase Amino Acid Sequence: Possible Channel- or Transporter-Like Structure
1989 StandoutScienceNobel
The future of cloning
1999 StandoutNatureNobel
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
2014 StandoutScienceNobel
The binding in vitro of the intermediate filament protein vimentin to synthetic oligonucleotides containing telomere sequences.
1988
Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants.
1989
Evolution and distribution of (GT)n repetitive sequences in mammalian genomes
1991
Chromosomal basis of X chromosome inactivation: Identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation
1998
Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-
1989
Reactivation of the Paternal X Chromosome in Early Mouse Embryos
2004 StandoutScienceNobel
Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.
1991
Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia
1985 StandoutScienceNobel
Membrane Fusion and Exocytosis
1999 StandoutNobel
X-CHROMOSOME INACTIVATION IN MAMMALS
1997
Glucose-6-Phosphate Dehydrogenase
1985
Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme
1996
Combinatorial SNARE complexes with VAMP7 or VAMP8 define different late endocytic fusion events
2004
Two point mutations are responsible for G6PD polymorphism in Sardinia.
1989
CpG-rich islands and the function of DNA methylation
1986 StandoutNature
Molecular anatomy of the human glucose 6‐phosphate dehydrogenase core promoter
1998
Antagonism of Catecholamine Receptor Signaling by Expression of Cytoplasmic Domains of the Receptors
1993 StandoutScienceNobel
Glucose-6-phosphate dehydrogenase deficiency
2008 Standout
Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site.
1984
Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase
1997
Annotation
1996
Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean
1996
Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation.
1992
Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.
1997
Mechanisms underlying losses of heterozygosity in human colorectal cancers
2001
YACs to the rescue
1993 StandoutNatureNobel
The scanning model for translation: an update.
1989 Standout
Molecular characterization of a gene of the ‘EGF family’ expressed in undifferentiated human NTERA2 teratocarcinoma cells.
1989
New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia
1995
The Human Genome Project: Reaching the Finish Line
1998 StandoutScienceNobel
G6PD deficiency as protection againstfalciparum malaria: An epidemiologic critique of population and experimental studies
1993
Works of Michele D’Urso being referenced
Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome.
1990
Common glucose‐6‐phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization
1990
Sequence of human glucose-6-phosphate dehydrogenase cloned in plasmids and a yeast artificial chromosome
1991
Human glucose-6-phosphate dehydrogenase gene carried on a yeast artificial chromosome encodes active enzyme in monkey cells
1990
An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome
1992
Differential Expression Pattern of XqPAR-Linked Genes SYBL1 and IL9R Correlates with the Structure and Evolution of the Region
1997
Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia
2003
Locations and contexts of sequences that hybridize to poly(dG-dT).(dC-dA) in mammalian ribosomal DNAs and two X-linked genes
1988
Klinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray
1998
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
1998
Escape from X Inactivation of Two New Genes Associated with DXS6974E and DXS7020E
1997
Sequence of mouse glucose-6-phosphate dehydrogenase cDNA
1993
A synaptobrevin–like gene in the Xq28 pseudoautosomal region undergoes X inactivation
1996
Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts
1992
Longins: a new evolutionary conserved VAMP family sharing a novel SNARE domain
2001
Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes
1993
Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
1996
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.
1998
Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region
1986
An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence.
1988
Human Xq24-Xq28: approaches to mapping with yeast artificial chromosomes.
1990
Tissue-specific levels of human glucose-6-phosphate dehydrogenase correlate with methylation of specific sites at the 3' end of the gene.
1985
Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase.
1986
cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322
1981 Nature
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer
2001
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.
1988
Regulation of glucose 6-phosphate dehydrogenase expression in CHO-human fibroblast somatic cell hybrids
1983
Stable integration and expression in mouse cells of yeast artificial chromosomes harboring human genes.
1991
Genetic variants of human erythrocyte glucose 6-phosphate dehydrogenase: Automated procedure for characterization by column chromatography
1980
Specific methylation pattern at the 3′ end of the human housekeeping gene for glucose 6-phosphate dehydrogenase.
1984