JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome

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JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome is …
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scholarly articleQ13442814

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P356DOI10.1172/JCI11679
P3181OpenCitations bibliographic resource ID3634446
P932PMC publication ID387260
P698PubMed publication ID11120765
P5875ResearchGate publication ID12207459

P2093author name stringA M Bowcock
H M Lederman
C Helms
N Ho
T A Chatila
C Voulgaropoulos
F Blaeser
P2860cites workAn autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domainsQ24313206
X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.Q24539046
Positional cloning of the APECED geneQ28116470
Human N-myc is closely related in organization and nucleotide sequence to c-mycQ28299447
Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genesQ28509666
CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouseQ28510215
Cellular and molecular characterization of the scurfy mouse mutantQ28513849
Winged helix proteinsQ29617630
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndromeQ30305447
An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndromeQ33328425
The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndromeQ33404650
Lineage commitment in the immune system: the T helper lymphocyte grows up.Q33970744
Five years on the wings of fork headQ34398426
X-linked lymphoreticular disease in the scurfy (sf) mutant mouseQ35831357
Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse.Q35834004
The absence of the transcription activator TFE3 impairs activation of B cells in vivoQ36568776
X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoeaQ36859835
Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of LangerhansQ40968072
The N-Myc oncoprotein is associated in vivo with the phosphoprotein Max(p20/22) in human neuroblastoma cellsQ41083303
X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoeaQ42100569
A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patientsQ47852328
An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.Q55062928
Complement deficienciesQ68132805
DNA binding by N- and L-Myc proteinsQ70618265
A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathyQ70680709
The mouse scurfy (sf) mutation is tightly linked to Gata1 and Tfe3 on the proximal X chromosomeQ72529315
Congenital autoimmune diabetes mellitusQ73810945
A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutationQ73904563
P433issue12
P407language of work or nameEnglishQ1860
P304page(s)R75-81
P577publication date2000-12-01
P1433published inJournal of Clinical InvestigationQ3186904
P1476titleJM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
P478volume106

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Q28359868Self-antigen-presenting cells expressing diabetes-associated autoantigens exist in both thymus and peripheral lymphoid organs
Q85574504Single nucleotide polymorphisms in the promoter regions of Foxp3 and ICOSLG genes are associated with Alopecia areata
Q34597933Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development
Q37378517Somatic single hits inactivate the X-linked tumor suppressor FOXP3 in the prostate
Q79147744Splice variants of human FOXP3 are functional inhibitors of human CD4+ T-cell activation
Q41968549Staphylococcus aureus convert neonatal conventional CD4(+) T cells into FOXP3(+) CD25(+) CD127(low) T cells via the PD-1/PD-L1 axis.
Q27670827Structural and Biological Features of FOXP3 Dimerization Relevant to Regulatory T Cell Function
Q24300742Structure of the forkhead domain of FOXP2 bound to DNA
Q33758029Suppression of IL-12p70 formation by IL-2 or following macrophage depletion causes T-cell autoreactivity leading to CNS demyelination in HSV-1-infected mice.
Q52094356Survey of forkhead domain encoding genes in the Drosophila genome: Classification and embryonic expression patterns.
Q92511099Systemic silencing of PHD2 causes reversible immune regulatory dysfunction
Q93109740T cell anergy in perinatal mice is promoted by T reg cells and prevented by IL-33
Q51976612T cells stimulated in vitro have a suppressive function but do not contain only regulatory T cells.
Q36327399T regulatory cells in allergen-specific immunotherapy.
Q53331257T regulatory cells lacking CD25 are increased in MS during relapse.
Q41966454T regulatory cells play a significant role in modulating MHC class I antibody-induced obliterative airway disease.
Q35459820T regulatory cells: aid or hindrance in the clearance of disease?
Q26862699T-regulatory cells in primary immune deficiencies
Q37377465TCR-dependent differentiation of thymic Foxp3+ cells is limited to small clonal sizes
Q36685552TH2 cells in the pathogenesis of airway remodeling: regulatory T cells a plausible panacea for asthma
Q38985243TREG Cells in Cancer: Beyond Classical Immunological Control
Q36232715Target identification and validation in systemic autoimmunity
Q37088207Targeted antigen delivery to DEC-205⁺ dendritic cells for tolerogenic vaccination
Q38071254Targeting the "cytokine storm" for therapeutic benefit
Q35769460Th2 cells: orchestrating barrier immunity
Q36992773The Critical Role of TGF-beta1 in the Development of Induced Foxp3+ Regulatory T Cells
Q47755372The Dual Role of Treg in Cancer
Q50133998The Gut Microbiome and Multiple Sclerosis.
Q39385246The IL-10/STAT3 axis: Contributions to immune tolerance by thymus and peripherally derived regulatory T-cells
Q40049468The IL-2/CD25 pathway determines susceptibility to T1D in humans and NOD mice
Q28069781The Immunomodulatory Functions of Diacylglycerol Kinase ζ
Q37055921The Role of Skin Barrier in the Pathogenesis of Food Allergy
Q36162564The STAT5b Pathway Defect and Autoimmunity
Q28505508The Scurfy mutation of FoxP3 in the thymus stroma leads to defective thymopoiesis
Q37393703The T(reg)/Th17 cell balance: a new paradigm for autoimmunity
Q33863995The Vitamin D Antenatal Asthma Reduction Trial (VDAART): rationale, design, and methods of a randomized, controlled trial of vitamin D supplementation in pregnancy for the primary prevention of asthma and allergies in children.
Q35962634The battle against immunopathology: infectious tolerance mediated by regulatory T cells
Q37228646The biology and therapeutic potential of natural regulatory T-cells in the bone marrow transplant setting
Q37728840The cytokine milieu in the interplay of pathogenic Th1/Th17 cells and regulatory T cells in autoimmune disease
Q36218421The development and function of memory regulatory T cells after acute viral infections
Q36634562The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
Q28751831The evolution of Fox genes and their role in development and disease
Q60917471The forkhead-box family of transcription factors: key molecular players in colorectal cancer pathogenesis
Q37190733The intricate interface between immune and metabolic regulation: a role for leptin in the pathogenesis of multiple sclerosis?
Q28510411The mutant leucine-zipper domain impairs both dimerization and suppressive function of Foxp3 in T cells
Q40008903The origin of FOXP3-expressing CD4+ regulatory T cells: thymus or periphery
Q90124443The presentation of neuroendocrine self-peptides in the thymus: an essential event for individual life and vertebrate survival
Q35931795The pro-metastatic role of bone marrow-derived cells: a focus on MSCs and regulatory T cells
Q90329887The relationship between TIGIT+ regulatory T cells and autoimmune disease
Q37767175The relationship of x-linked primary immune deficiencies and autoimmunity
Q38029556The role of FOXP3 in the development and metastatic spread of breast cancer.
Q36747499The role of T helper 17 (Th17) and regulatory T cells (Treg) in human organ transplantation and autoimmune disease
Q36752196The role of natural regulatory T cells in infection
Q35685189The role of regulatory T cells in allergy
Q30371308The role of regulatory T cells in atopic dermatitis.
Q34441735The role of the FOXP3 transcription factor in the immune regulation of allergic asthma.
Q37803117The roles of c‐rel and interleukin‐2 in tolerance: a molecular explanation of self–nonself discrimination
Q47105632The transcription factor Batf3 inhibits the differentiation of regulatory T cells in the periphery.
Q52674851Therapeutic Potential of Gene-Modified Regulatory T Cells: From Bench to Bedside.
Q33684806Therapeutic potential of TGF-β-induced CD4(+) Foxp3(+) regulatory T cells in autoimmune diseases.
Q90737847Therapeutic potential of aryl hydrocarbon receptor in autoimmunity
Q47761658Therapeutic targeting of FOXP3-positive regulatory T cells using a FOXP3 peptide vaccine WO2008081581.
Q37636838Thymic Nurse Cells Participate in Heterotypic Internalization and Repertoire Selection of Immature Thymocytes; Their Removal from the Thymus of Autoimmune Animals May be Important to Disease Etiology
Q36959215Thymic versus induced regulatory T cells - who regulates the regulators?
Q24603791Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions
Q38135555Transcriptional control of regulatory T cell development and function
Q58234949Transient expression of FOXP3 in human activated nonregulatory CD4+ T cells
Q26772335Translating Treg Therapy in Humanized Mice
Q37632479Translational mini-review series on Th17 cells: induction of interleukin-17 production by regulatory T cells.
Q34602052Translational mini-review series on Toll-like receptors: Toll-like receptor ligands as novel pharmaceuticals for allergic disorders
Q36192911Treg cells, life history, and diversity
Q56987489Twenty-first century Foxp3
Q93388177Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome
Q37378417Using histone deacetylase inhibitors to enhance Foxp3(+) regulatory T-cell function and induce allograft tolerance
Q37571619X chromosome inactivation and autoimmunity
Q37039682X chromosome inactivation and female predisposition to autoimmunity
Q24681000X-chromosome inactivation analysis in a female carrier of FOXP3 mutation
Q35850633X-linked immunodeficiencies
Q33980087X-linked tumor suppressors: perplexing inheritance, a unique therapeutic opportunity.
Q61647760Zeroing in on tolerance
Q45771316p27(Kip1) inhibits systemic autoimmunity through the control of Treg cell activity and differentiation

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