Citation Impact
Citing Papers
Accelerated Evolution of Conserved Noncoding Sequences in Humans
2006 StandoutScienceNobel
Hepcidin Regulates Cellular Iron Efflux by Binding to Ferroportin and Inducing Its Internalization
2004 StandoutScience
The DNA-damage response in human biology and disease
2009 StandoutNature
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
cDNA and protein characterization of humanMAGE-10
1999
Predominance of null mutations in ataxia-telangiectasia
1996
Sex in the '90s
1995
Elements of cancer immunity and the cancer–immune set point
2017 StandoutNature
Innate immune mechanisms of colitis and colitis-associated colorectal cancer
2010
Altered synaptic clustering of GABAA receptors in mice lacking dystrophin (mdx mice)
1999
Intestinal homeostasis and its breakdown in inflammatory bowel disease
2011 StandoutNature
Nucleotide signalling during inflammation
2014 StandoutNature
Bile acids induce energy expenditure by promoting intracellular thyroid hormone activation
2006 StandoutNature
Autoinhibition and activation mechanisms of the Wiskott–Aldrich syndrome protein
2000 Nature
Control of hepatic gluconeogenesis through the transcriptional coactivator PGC-1
2001 StandoutNature
Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome
2007 StandoutNobel
Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank
2019
Hereditary Hemochromatosis — A New Look at an Old Disease
2004
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening
2000
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
Activation of the Promoter of the Orphan Receptor SHP by Orphan Receptors That Bind DNA as Monomers
1999
Hemochromatosis and Iron-Overload Screening in a Racially Diverse Population
2005
A Regulatory Cascade of the Nuclear Receptors FXR, SHP-1, and LRH-1 Represses Bile Acid Biosynthesis
2000 Standout
Iron Overload in Human Disease
2012
Functional polarization of tumour-associated macrophages by tumour-derived lactic acid
2014 StandoutNature
Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein
1997
Identification and Characterization of a Novel Cancer/Testis Antigen Gene CAGE
2002
Nonresolving Inflammation
2010 Standout
Dmdmdx-βgeo: A new allele for the mouse dystrophin gene
1998
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome
2000
Familial Occurrence of the IMAGe Association: Additional Clinical Variants and a Proposed Mode of Inheritance
2005
Cancer/testis antigens: an expanding family of targets for cancer immunotherapy
2002
Tumour antigens recognized by T lymphocytes: at the core of cancer immunotherapy
2014
New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis
1999
Wiskott–Aldrich Syndrome Protein, a Novel Effector for the GTPase CDC42Hs, Is Implicated in Actin Polymerization
1996
Exon–Intron Organization of the Human Dystrophin Gene
1997
Tumor‐specific shared antigenic peptides recognized by human T cells
2002
A role of PIEZO1 in iron metabolism in mice and humans
2021 StandoutNobel
X-inactivation profile reveals extensive variability in X-linked gene expression in females
2005 StandoutNature
Genetic analysis of adrenal absence: agenesis and aplasia
2005
Seeking Candidate Mutations That Affect Iron Homeostasis
2002
Wiskott-Aldrich Syndrome Protein-Deficient Mice Reveal a Role for WASP in T but Not B Cell Activation
1998
Wilson's disease and other neurological copper disorders
2014
An orphan nuclear receptor lacking a zinc-finger DNA-binding domain: interaction with several nuclear receptors
1997
Haemochromatosis
2018
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
2001 StandoutNobel
Modulation of Estrogen Receptor-α Transcriptional Activity by the Coactivator PGC-1
2000
Dystroglycan in the Cerebellum is a Laminin α2‐chain Binding Protein at the Glial‐Vascular Interface and is Expressed in Purkinje cells
1996
Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution
1996
Control of Male Sexual Behavior and Sexual Orientation in Drosophila by the fruitless Gene
1996 StandoutNobel
New cell lines from mouse epiblast share defining features with human embryonic stem cells
2007 StandoutNature
Genetics and pathogenesis of inflammatory bowel disease
2011 StandoutNature
The biology of infertility: research advances and clinical challenges
2008
MAGE-A1 interacts with adaptor SKIP and the deacetylase HDAC1 to repress transcription
2004
Compound Heterozygous Mutations in the Cholesterol Side-Chain Cleavage Enzyme Gene (CYP11A) Cause Congenital Adrenal Insufficiency in Humans
2002
Wilms' Tumor 1 and Dax-1 Modulate the Orphan Nuclear Receptor SF-1 in Sex-Specific Gene Expression
1998
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
1994
Mutations inNR0B1 (DAX1) andNR5A1 (SF1) responsible for adrenal hypoplasia congenita
2001
Cancer/testis antigens, gametogenesis and cancer
2005 Standout
Protective and pathogenic functions of macrophage subsets
2011 Standout
Role of Ahch in gonadal development and gametogenesis
1998
Points of control in inflammation
2002 StandoutNature
Macrophage biology in development, homeostasis and disease
2013 StandoutNature
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
2000
The RXR heterodimers and orphan receptors
1995 Standout
Steroidogenic Factor-1: Its Role in Endocrine Organ Development and Differentiation
1999
Pathways towards and away from Alzheimer's disease
2004 StandoutNature
Inflammasomes in health and disease
2012 StandoutNature
Copper is required for oncogenic BRAF signalling and tumorigenesis
2014 Nature
IMAGe, a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
1999
Aquaporin‐4 deficiency in skeletal muscle and brain of dystrophic mdx mice
2001
Molecular Biology of the 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase Gene Family
2005
Age-Dependent Neuronal and Synaptic Degeneration in Mice Transgenic for the C Terminus of the Amyloid Precursor Protein
1996
MAMMALS THAT BREAK THE RULES: Genetics of Marsupials and Monotremes
1996
MAGE-B5, MAGE-B6, MAGE-C2, andMAGE-C3: four new members of theMAGE family with tumor-specific expression
2000
Steroidogenic Factor 1: A Key Determinant of Endocrine Development and Function
1997
Identification of a new MAGE gene with tumor-specific expression by representational difference analysis.
1998
Bee1, a Yeast Protein with Homology to Wiscott-Aldrich Syndrome Protein, Is Critical for the Assembly of Cortical Actin Cytoskeleton
1997
An α-syntrophin-dependent pool of AQP4 in astroglial end-feet confers bidirectional water flow between blood and brain
2003 StandoutNobel
Orphan Nuclear Receptors: From Gene to Function*
1999
Disruption of ferroportin 1 regulation causes dynamic alterations in iron homeostasis and erythropoiesis in polycythaemia mice
2004
Late changes in spliceosomal introns define clades in vertebrate evolution
1999 StandoutNobel
Nuclear Receptors and Lipid Physiology: Opening the X-Files
2001 StandoutScience
Adoptive cell transfer as personalized immunotherapy for human cancer
2015 StandoutScience
The Orphan Nuclear Receptor SHP Inhibits Hepatocyte Nuclear Factor 4 and Retinoid X Receptor Transactivation: Two Mechanisms for Repression
2000
An overview of the MAGE gene family with the identification of all human members of the family.
2001
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*
2000
Identification on a human sarcoma of two new genes with tumor-specific expression.
2000
DNA Methylation Is the Primary Silencing Mechanism for a Set of Germ Line- and Tumor-Specific Genes with a CpG-Rich Promoter
1999
Advances in Treatment of Wilson Disease
2017
An Orphan Nuclear Hormone Receptor That Lacks a DNA Binding Domain and Heterodimerizes with Other Receptors
1996 Science
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
Steroid Hormone Biosynthesis and Actions in the Materno Fetoplacental Unit
1998
Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience
2006
Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc
2008
A new family of genes coding for an antigen recognized by autologous cytolytic T lymphocytes on a human melanoma.
1995
The activation of human gene MAGE-1 in tumor cells is correlated with genome-wide demethylation.
1996
Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation
2003 Standout
A2B Adenosine Receptor Blockade Enhances Macrophage-Mediated Bacterial Phagocytosis and Improves Polymicrobial Sepsis Survival in Mice
2011
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Rho GTPases and the Actin Cytoskeleton
1998 StandoutScience
Copper induces cell death by targeting lipoylated TCA cycle proteins
2022 StandoutScience
Melanoma Antigen Gene Protein MAGE-11 Regulates Androgen Receptor Function by Modulating the Interdomain Interaction
2005
The Guanine Nucleotide-Binding Switch in Three Dimensions
2001 StandoutScience
Anti-CCR4 mAb selectively depletes effector-type FoxP3+CD4+regulatory T cells, evoking antitumor immune responses in humans
2013 StandoutNobel
Overexpression of MAGE/GAGE genes in paclitaxel/doxorubicin-resistant human cancer cell lines.
2003
Heterozygous Mutation in the Cholesterol Side Chain Cleavage Enzyme (P450scc) Gene in a Patient with 46,XY Sex Reversal and Adrenal Insufficiency
2001
Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein
2001 StandoutNobel
CTLA-4 blockade enhances polyfunctional NY-ESO-1 specific T cell responses in metastatic melanoma patients with clinical benefit
2008 StandoutNobel
Immunotherapy: Bewitched, Bothered, and Bewildered No More
2004 StandoutScienceNobel
Inhibition of Estrogen Receptor Action by the Orphan Receptor SHP (Short Heterodimer Partner)
1998
hMAGE-A1 Overexpression Reduces TNF-α Cytotoxicity in ME-180 Cells
2002
Delayed onset of brain edema and mislocalization of aquaporin-4 in dystrophin-null transgenic mice
2002 StandoutNobel
MAGE-B5, MAGE-B6, MAGE-C2, and MAGE-C3: four new members of the MAGE family with tumor-specific expression.
2000
Inflammation and metabolism in tissue repair and regeneration
2017 StandoutScience
Chemotherapy triggers HIF-1–dependent glutathione synthesis and copper chelation that induces the breast cancer stem cell phenotype
2015 StandoutNobel
Enhanced Phosphorylation of p53 by ATM in Response to DNA Damage
1998 StandoutScience
Differential Ligand Activation of Estrogen Receptors ERα and ERβ at AP1 Sites
1997 StandoutScience
Characterization of the GAGE genes that are expressed in various human cancers and in normal testis.
1999
Identification of a Nuclear Receptor for Bile Acids
1999 StandoutScience
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
2002
Works of Ann P. Walker being referenced
Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease
2009
A simple genetic test identifies 90% of UK patients with haemochromatosis
1997
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
1994 Nature
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia
1995
Wilson's disease
2007
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
1992
Hemochromatosis and Iron Overload Screening (HEIRS) Study Design for an Evaluation of 100,000 Primary Care-Based Adults
2003
Isolation of the human Xp21 glycerol kinase gene by positional cloning
1993
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
1994 Nature
Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y
2002
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
1992
A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene
1992
Isolation and characterization of a MAGE gene family in the Xp21.3 region.
1995
The Effect of Iron Status on Risk of Coronary Artery Disease
2017
Autosomal dominant reticuloendothelial iron overload associated with a 3–base pair deletion in the ferroportin 1 gene(SLC11A3)
2002