Standout Papers

Genomic architecture of in... 1991 2026 2002 2014 2.5k
  1. Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals (2016)
    Anna Stittrich, J. R. Ashworth et al. Human Genome Variation
  2. Measurement of Organ-Specific and Acute-Phase Blood Protein Levels in Early Lyme Disease (2019)
    Yong Zhou, Shizhen Qin et al. Journal of Proteome Research
  3. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy (2001)
    Robert S. Wildin, Fred Ramsdell et al. Nature Genetics
  4. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 (2001)
    Craig L. Bennett, Fred Ramsdell et al. Nature Genetics
  5. Ectopic expression of the H19 gene in mice causes prenatal lethality. (1991)
    Mary E. Brunkow, S M Tilghman Genes & Development
  6. A Novel Mutation in CD83 Results in the Development of a Unique Population of CD4+ T Cells (2004)
    León F. Garcı́a-Martı́nez, Mark W. Appleby et al. The Journal of Immunology
  7. A 1.8-Mb YAC contig spanning three members of the receptor tyrosine kinase gene family (Pdgfra, Kit, and Flk1) on mouse chromosome 5 (1995)
    Mary E. Brunkow, Deborah L. Nagle et al. Genomics
  8. Sclerostin: how human mutations have helped reveal a new target for the treatment of osteoporosis (2013)
    Martyn K. Robinson, John Caminis et al. Drug Discovery Today
  9. A 52‐kb deletion in the SOST‐MEOX1 intergenic region on 17q12‐q21 is associated with van Buchem disease in the Dutch population (2002)
    Karen Staehling-Hampton, Sean Proll et al. American Journal of Medical Genetics
  10. Evolutionary history of Tibetans inferred from whole-genome sequencing (2017)
    Hao Hu, Nayia Petousi et al. PLoS Genetics
  11. Disruption of Fnip1 Reveals a Metabolic Checkpoint Controlling B Lymphocyte Development (2012)
    Heon Park, Mark Tsang et al. Immunity
  12. Proto-oncogenes in mammalian development (1992)
    Lesley M. Forrester, Mary E. Brunkow et al. Current Opinion in Genetics & Development
  13. Embryonic and adult expression patterns of the Tec tyrosine kinase gene suggest a role in megakaryocytopoiesis, blood vessel development, and melanogenesis. (1997)
    Michael Klüppel, Dorit Donoviel et al. PubMed
  14. The Amount of Scurfin Protein Determines Peripheral T Cell Number and Responsiveness (2001)
    Roli Khattri, Deborah J. Kasprowicz et al. The Journal of Immunology
  15. Cellular and molecular characterization of the scurfy mouse mutant. (1999)
    Mark W. Appleby, Mary E. Brunkow et al. PubMed
  16. Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein (2001)
    Mary E. Brunkow, Jessica C. Gardner et al. The American Journal of Human Genetics
  17. Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. (1993)
    Marisa S. Bartolomei, Andrea L. Webber et al. Genes & Development
  18. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome (2001)
    Craig L. Bennett, Mary E. Brunkow et al. Immunogenetics
  19. Polymorphisms in the Sclerosteosis/van Buchem Disease Gene (SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites (2004)
    André G. Uitterlinden, Pascal Arp et al. The American Journal of Human Genetics
  20. Parental Imprinting of the H19 and Igf2 Genes in the Mouse (1993)
    S M Tilghman, Marisa S. Bartolomei et al. Cold Spring Harbor Symposia on Quantitative Biology
  21. Identification of copy number variants in whole-genome data using Reference Coverage Profiles (2015)
    Gustavo Glusman, Varsha Dhankani et al. Frontiers in Genetics
  22. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse (2001)
    Mary E. Brunkow, Eric W. Jeffery et al. Nature Genetics
  23. Cellular and Molecular Characterization of the scurfy Mouse Mutant (1999)
    Mark W. Appleby, Mary E. Brunkow et al. The Journal of Immunology
  24. A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic Protein 1 in lymphopoiesis and innate immunity (2008)
    Heon Park, Karen Staehling-Hampton et al. The Journal of Experimental Medicine
  25. Origin of the PSEN1 E280A mutation causing early‐onset Alzheimer's disease (2013)
    Matthew A. Lalli, Hannah C. Cox et al. Alzheimer s & Dementia

Citation Impact

Citing Papers

Tumor cells convert immature myeloid dendritic cells into TGF-β–secreting cells inducing CD4 + CD25 + regulatory T cell proliferation
2005
CTLA-4 Control over Foxp3 + Regulatory T Cell Function
2008 StandoutScienceNobel
Bone Density Ligand, Sclerostin, Directly Interacts With LRP5 but Not LRP5G171V to Modulate Wnt Activity
2006
Sclerostin Antibody Treatment Increases Bone Formation, Bone Mass, and Bone Strength in a Rat Model of Postmenopausal Osteoporosis
2008
Control of Regulatory T Cell Development by the Transcription Factor Foxp3
2003 StandoutScienceNobel
Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development
2006 Standout
Identifying Foxp3-expressing suppressor T cells with a bicistronic reporter
2005
The microbiota regulates type 2 immunity through RORγt + T cells
2015 StandoutScienceNobel
CD4+ Tregs and immune control
2004 StandoutNobel
Expression of Helios, an Ikaros Transcription Factor Family Member, Differentiates Thymic-Derived from Peripherally Induced Foxp3+ T Regulatory Cells
2010
Hallmarks of Cancer: The Next Generation
2011 Standout
An enhancer deletion affects both H19 and Igf2 expression.
1995
The promise and challenge of therapeutic genome editing
2020 StandoutNatureNobel
Transcription factor Foxp3 and its protein partners form a complex regulatory network
2012
Osteoporosis
2006
The H19 methylation imprint is erased and re-established differentially on the parental alleles during male germ cell development
2000
Disruption of imprinting caused by deletion of the H19 gene region in mice
1995 Nature
Targeting the Wnt/β-Catenin Pathway to Regulate Bone Formation in the Adult Skeleton
2007
Role for DNA methylation in genomic imprinting
1993 StandoutNature
Regulatory T Cells
2000 StandoutNobel
Regulatory T Cells in Cancer
2010
Juvenile idiopathic arthritis
2007 Standout
Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1
2007 StandoutNatureNobel
Secreted and Transmembrane Wnt Inhibitors and Activators
2012
Regulatory T Cells and Immune Tolerance
2008 StandoutNobel
Positional Cloning of the Mouse Circadian Gene
1997
Phenotypic and Functional Differences Between Human CD4+CD25+ and Type 1 Regulatory T Cells
2005
Regulatory T Cell Lineage Specification by the Forkhead Transcription Factor Foxp3
2005 Standout
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease
2005
Foxp3 programs the development and function of CD4+CD25+ regulatory T cells
2003 Standout
Osteoporosis: now and the future
2011 Standout
SOST Is a Ligand for LRP5/LRP6 and a Wnt Signaling Inhibitor
2005
Location of enhancers is essential for the imprinting of H19 and Igf2 genes
1998 Nature
Naturally arising Foxp3-expressing CD25+CD4+ regulatory T cells in immunological tolerance to self and non-self
2005 StandoutNobel
Chromatin conformation of the H19 epigenetic mark
1998
FOXP3 and scurfy: how it all began
2014 StandoutNobel
WNT signaling in bone homeostasis and disease: from human mutations to treatments
2013 Standout
A forkhead-domain gene is mutated in a severe speech and language disorder
2001 Nature
A function for interleukin 2 in Foxp3-expressing regulatory T cells
2005
An essential role for Scurfin in CD4+CD25+ T regulatory cells
2003 StandoutNobel
Wnt/β-Catenin Signaling and Disease
2012 Standout
Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases
2009 Standout
Regulatory T-cell functions are subverted and converted owing to attenuated Foxp3 expression
2007 Nature
T Cell Receptor Stimulation-Induced Epigenetic Changes and Foxp3 Expression Are Independent and Complementary Events Required for Treg Cell Development
2012 StandoutNobel
Regulatory T Cells Control Antigen-Specific Expansion of Tfh Cell Number and Humoral Immune Responses via the Coreceptor CTLA-4
2014 StandoutNobel
Crucial role of FOXP3 in the development and function of human CD25+CD4+ regulatory T cells
2004 StandoutNobel
High prevalence of Streptococcus pyogenes Cas9-reactive T cells within the adult human population
2018
Taking dendritic cells into medicine
2007 StandoutNatureNobel
Generation of germline-competent induced pluripotent stem cells
2007 StandoutNatureNobel
LRP5 Mutations Linked to High Bone Mass Diseases Cause Reduced LRP5 Binding and Inhibition by SOST
2006
Regulatory T cells in transplantation tolerance
2003 StandoutNobel
Foxp3 occupancy and regulation of key target genes during T-cell stimulation
2007 Nature
Distinct Foxp3 enhancer elements coordinate development, maintenance, and function of regulatory T cells
2021 StandoutNobel
Analysis of FOXP3 protein expression in human CD4+CD25+ regulatory T cells at the single-cell level
2005
Foxp3 and Natural Regulatory T Cells
2003 StandoutNobel
FOXP3+ regulatory T cells in the human immune system
2010 StandoutNobel
Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2
1998
Surrogate Wnt agonists that phenocopy canonical Wnt and β-catenin signalling
2017 StandoutNatureNobel
Transcription factor Ikzf1 associates with Foxp3 to repress gene expression in Treg cells and limit autoimmunity and anti-tumor immunity
2024 StandoutNobel
A common E2F-1 and p73 pathway mediates cell death induced by TCR activation
2000 StandoutNatureNobel
CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
2000 StandoutNature
Regulatory T Cell-Specific Epigenomic Region Variants Are a Key Determinant of Susceptibility to Common Autoimmune Diseases
2020 StandoutNobel
TGF-β-induced Foxp3 inhibits TH17 cell differentiation by antagonizing RORγt function
2008 StandoutNature
Molecular evolution of FOXP2, a gene involved in speech and language
2002 StandoutNatureNobel
Development and Maintenance of Regulatory T cells
2013 StandoutNobel
Romosozumab Treatment in Postmenopausal Women with Osteoporosis
2016
Mechanisms of Anabolic Therapies for Osteoporosis
2007
FOXP3 Controls Regulatory T Cell Function through Cooperation with NFAT
2006
Update on Wnt signaling in bone cell biology and bone disease
2011
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
Parental-origin-specific epigenetic modification of the mouse H19 gene
1993 Nature
Human FOXP3+ Regulatory T Cell Heterogeneity and Function in Autoimmunity and Cancer
2019 StandoutNobel
Scurfin (FOXP3) Acts as a Repressor of Transcription and Regulates T Cell Activation
2001 StandoutNobel
The structural H19 gene is required for transgene imprinting
1996
WNT signaling in bone development and homeostasis
2014
A 5′ Differentially Methylated Sequence and the 3′-Flanking Region Are Necessary forH19Transgene Imprinting
1997
NaturallyArisingCD4+RegulatoryT Cells forImmunologicSelf-Tolerance andNegativeControl ofImmuneResponses
2003 StandoutNobel
De novogeneration of antigen-specific CD4+CD25+regulatory T cells from human CD4+CD25–cells
2005
FOXP3: Of Mice and Men
2005
Induction of FoxP3 and acquisition of T regulatory activity by stimulated human CD4+CD25– T cells
2003
CD4+CD25−LAG3+regulatory T cells controlled by the transcription factor Egr-2
2009 StandoutNobel
The origin of FOXP3-expressing CD4+ regulatory T cells: thymus or periphery
2003 StandoutNobel
Expansion of FOXP3high regulatory T cells by human dendritic cells (DCs) in vitro and after injection of cytokine-matured DCs in myeloma patients
2006 StandoutNobel
Neuropilin 1 is expressed on thymus-derived natural regulatory T cells, but not mucosa-generated induced Foxp3+ T reg cells
2012
Erasing genomic imprinting memory in mouse clone embryos produced from day 11.5 primordial germ cells
2002
Binding of the von Hippel-Lindau Tumor Suppressor Protein to Elongin B and C
1995 StandoutScienceNobel
PD-1 and LAG-3 inhibitory co-receptors act synergistically to prevent autoimmunity in mice
2011 StandoutNobel
A role for Dicer in immune regulation
2006 StandoutNobel
Blockade of CTLA-4 on CD4+CD25+ Regulatory T Cells Abrogates Their Function In Vivo
2006
Independent Photoreceptive Circadian Clocks Throughout Drosophila
1997 StandoutScienceNobel
Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma.
1994
LDL receptor-related proteins 5 and 6 in Wnt/β-catenin signaling:Arrows point the way
2004
CD4+ Tregs and immune control
2004 StandoutNobel
Sclerostin is a delayed secreted product of osteocytes that inhibits bone formation
2005 Standout
Transcriptional silencing of the p73 gene in acute lymphoblastic leukemia and Burkitt's lymphoma is associated with 5' CpG island methylation.
1999
Structure of the VHL-ElonginC-ElonginB Complex: Implications for VHL Tumor Suppressor Function
1999 StandoutScienceNobel
Parental Allele-Specific Chromatin Configuration in a Boundary–Imprinting-Control Element Upstream of the Mouse H19 Gene
1999
CD25+ CD4+ T Cells, Expanded with Dendritic Cells Presenting a Single Autoantigenic Peptide, Suppress Autoimmune Diabetes
2004 StandoutNobel
In vivo equilibrium of proinflammatory IL-17+ and regulatory IL-10+ Foxp3+ RORγt+ T cells
2008
GENETIC ANALYSIS OF HOST RESISTANCE: Toll-Like Receptor Signaling and Immunity at Large
2006 StandoutNobel
Development of human CD4+FoxP3+ regulatory T cells in human stem cell factor–, granulocyte-macrophage colony-stimulating factor–, and interleukin-3–expressing NOD-SCID IL2Rγnull humanized mice
2011 StandoutNobel
Characterization of Novel Parent-Specific Epigenetic Modifications Upstream of the Imprinted Mouse H19Gene
1998
Characterization of Foxp3+CD4+CD25+ and IL-10-Secreting CD4+CD25+ T Cells during Cure of Colitis
2006 StandoutNobel

Works of Mary E. Brunkow being referenced

A 1.8-Mb YAC contig spanning three members of the receptor tyrosine kinase gene family (Pdgfra, Kit, and Flk1) on mouse chromosome 5
1995 Standout
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
2001 StandoutNobel
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
2001 Standout
A 52‐kb deletion in the SOST‐MEOX1 intergenic region on 17q12‐q21 is associated with van Buchem disease in the Dutch population
2002 Standout
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
2001 StandoutNobel
Polymorphisms in the Sclerosteosis/van Buchem Disease Gene (SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites
2004 Standout
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
2001 StandoutNobel
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome
2001 StandoutNobel
Cellular and molecular characterization of the scurfy mouse mutant.
1999 StandoutNobel
The Amount of Scurfin Protein Determines Peripheral T Cell Number and Responsiveness
2001 StandoutNobel
Ectopic expression of the H19 gene in mice causes prenatal lethality.
1991 Standout
Cellular and Molecular Characterization of the scurfy Mouse Mutant
1999 StandoutNobel
Epigenetic mechanisms underlying the imprinting of the mouse H19 gene.
1993 Standout
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