Citation Impact
Citing Papers
Complement Factor H Polymorphism in Age-Related Macular Degeneration
2005 StandoutScience
Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface
2013
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
An assessment of the sequence gaps: Unfinished business in a finished human genome
2004
Characteristics and function of Ca2+ — and inositol 1,4,5-trisphosphate-releasable stores of Ca2+ in neurons
1992
Structure of a mammalian ryanodine receptor
2014 StandoutNatureNobel
Structural Basis for Gating and Activation of RyR1
2016 StandoutNobel
Circulating mitochondrial DAMPs cause inflammatory responses to injury
2010 StandoutNature
WAF1, a potential mediator of p53 tumor suppression
1993 Standout
Defects in a cell cycle checkpoint may be responsible for the genomic instability of cancer cells
1992 StandoutNobel
Activation of nitric oxide synthase in endothelial cells by Akt-dependent phosphorylation
1999 StandoutNature
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
1989
Disease Mutations in the Ryanodine Receptor Central Region: Crystal Structures of a Phosphorylation Hot Spot Domain
2012
Identification of the residues in human CD4 critical for the binding of HIV
1989 StandoutNobel
Genetic instabilities in human cancers
1998 StandoutNature
The muscular dystrophies
2002 Standout
When Checkpoints Fail
1997 StandoutNobel
Postulated Role of Interdomain Interaction within the Ryanodine Receptor in Ca2+ Channel Regulation
2000
Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: Implications for cell and gene therapy
1990
Normal myoblast injections provide genetic treatment for murine dystrophy
1988
Neonatal screening for muscular dystrophy
1993
The sex-determining region of the human Y chromosome encodes a finger protein
1987
Muscular dystrophy into the new millennium
2002
Adhesion receptors of the immune system
1990 StandoutNature
The causes and consequences of genetic heterogeneity in cancer evolution
2013 StandoutNature
Thymic selection in CD8 transgenic mice supports an instructive model for commitment to a CD4 or CD8 lineage
1991 StandoutNobel
p53 is required for radiation-induced apoptosis in mouse thymocytes
1993 StandoutNature
Inositol trisphosphate and calcium signalling
1993 StandoutNature
The mitochondrial genome: structure, transcription, translation and replication
1999
Transcriptional co-activator PGC-1α drives the formation of slow-twitch muscle fibres
2002 StandoutNature
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin
1990 Nature
Long-Term Potentiation Is Reduced in Mice That Are Doubly Mutant in Endothelial and Neuronal Nitric Oxide Synthase
1996 StandoutNobel
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
1990 StandoutNature
Crystal structure of a soluble form of the human T cell coreceptor CD8 at 2.6 Å resolution
1992 StandoutNobel
Wild-type p53 restores cell cycle control and inhibits gene amplification in cells with mutant p53 alleles
1992
Molecular biology of double‐minute chromosomes
1993
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
2003
soluble form of CD4 (T4) protein inhibits AIDS virus infection
1988 StandoutNatureNobel
Crystal Structures of a Complexed and Peptide-Free Membrane Protein–Binding Domain: Molecular Basis of Peptide Recognition by PDZ
1996 StandoutNobel
Deletion of the diploid dihydrofolate reductase locus from cultured mammalian cells
1983
Amplification and Enhanced Expression of the Epidermal Growth Factor Receptor Gene in A431 Human Carcinoma Cells
1984 Science
Crystal structures of wild type and disease mutant forms of the ryanodine receptor SPRY2 domain
2014
Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
1989 StandoutScience
The cloning and reintroduction into animal cells of a functional CAD gene, a dominant amplifiable genetic marker
1981
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis
1987
Tissue Engineering
1993 StandoutScience
A giant locus for the Duchenne and Becker muscular dystrophy gene
1987
Crystal Structure of a p53 Tumor Suppressor-DNA Complex: Understanding Tumorigenic Mutations
1994 StandoutScience
A central role for chromosome breakage in gene amplification, deletion formation, and amplicon integration.
1991
Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region
1987 StandoutNatureNobel
Cancer Cell Cycles
1996 StandoutScience
Cell Cycle Control and Cancer
1994 StandoutScienceNobel
Evolution of chromosomal regions containing transfected and amplified dihydrofolate reductase sequences.
1983
Isolation of Chinese hamster cell mutants deficient in dihydrofolate reductase activity.
1980
Structure of DNA formed in the first step of CAD gene amplification.
1986
Calcium Ion in Skeletal Muscle: Its Crucial Role for Muscle Function, Plasticity, and Disease
2000
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.
1985
Evolution of the genome and the genetic code: selection at the dinucleotide level by methylation and polyribonucleotide cleavage.
1989 StandoutNobel
Neural Science
2000 StandoutNobel
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
1986 Nature
Isoforms of nitric oxide synthase
1995
Regulation of biosynthesis of nitric oxide.
1994
Influence of Life Stress on Depression: Moderation by a Polymorphism in the 5-HTT Gene
2003 StandoutScience
Identification of the Cystic Fibrosis Gene: Genetic Analysis
1989 StandoutScience
Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity.
1984
Primary mouse myoblast purification, characterization, and transplantation for cell-mediated gene therapy.
1994 Standout
Gene correction in hematopoietic progenitor cells by homologous recombination
2000 StandoutNobel
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
1987 Standout
Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.
1986
Identification of Scavenger Receptor SR-BI as a High Density Lipoprotein Receptor
1996 StandoutScience
Mice lacking inducible nitric oxide synthase are not resistant to lipopolysaccharide-induced death.
1995 StandoutNobel
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
1986 Nature
Prenatal Diagnosis and Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy
1987
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
1989 StandoutScience
The Molecular Genetics of Cancer
1987 StandoutScienceNobel
Effect of chromosomal position on amplification of transfected genes in animal cells
1984 Nature
Reverse genetics and human disease
1986
Human epidermal growth factor receptor cDNA sequence and aberrant expression of the amplified gene in A431 epidermoid carcinoma cells
1984 StandoutNature
Progress Toward Human Gene Therapy
1993
The Leucine Zipper: A Hypothetical Structure Common to a New Class of DNA Binding Proteins
1988 StandoutScience
Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein
2001 StandoutNobel
Accessories or coreceptors?
1988 Nature
Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome
1984
High rate of CAD gene amplification in human cells deficient in MLH1 or MSH6
2001 StandoutNobel
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy
1987
Evidence for Developmentally Programmed Transdifferentiation in Mouse Esophageal Muscle
1995 StandoutScienceNobel
Pharmacogenomics: Translating Functional Genomics into Rational Therapeutics
1999 StandoutScience
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
1986 StandoutNature
Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.
1990
Structural organization of the human neuronal nitric oxide synthase gene (NOS1)
1994
Muscular dystrophy in girls with X;autosome translocations.
1986
Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene.
1988
Long-range restriction map around the Duchenne muscular dystrophy gene
1986 Nature
Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles
2004 StandoutNobel
Functional immunoglobulin M production after transfection of cloned immunoglobulin heavy and light chain genes into lymphoid cells.
1983 StandoutNobel
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment
1985 Nature
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome
1986
Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma
1983 Nature
DPC4 , A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1
1996 StandoutScience
Results of a Triple Blind Clinical Study of Myoblast Transplantations without Immunosuppressive Treatment in Young Boys with Duchenne Muscular Dystrophy
1993
Works of Catherine Duff being referenced
Myoblast transfer in duchenne muscular dystrophy
1993
The human mitochondrial elongation factor tu (EF-Tu) gene: cDNA sequence, genomic localization, genomic structure, and identification of a pseudogene
1997
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia
1991
Localization of the Human Gene for Inducible Nitric Oxide Synthase (NOS2) to Chromosome 17q11.2-q12
1994
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia
1992
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
1990 Nature
[27] Karyotyping
1979
Duchenne Muscular Dystrophy Involving Translocation of the dmd Gene Next to Ribosomal RNA Genes
1984 Science
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy
1985 Nature
Chromosome stability in CHO cells
1977
Moderate-Level Gene Amplification in Methotrexate-Resistant Chinese Hamster Ovary Cells is Accompanied by Chromosomal Translocations At or Near the Site of the Amplified DHFR Gene
1984
Chromosomal Alterations Associated with Overproduction of Asparagine Synthetase in Albizziin-Resistant Chinese Hamster Ovary Cells
1983
Human Ribosomal RNA Genes: Orientation of the Tandem Array and Conservation of the 5′ End
1988 Science
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.
1989