Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.F371C
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FOXP3

NM_014009.4:p.F371C

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

The transcription factor FoxP3 can fold into two dimerization states with divergent implications for regulatory T cell function and immune homeostasis.

Leng F et al.

Immunity, 2022

A Structure-Guided Delineation of FOXP3 Regulation Mechanism in IPEX.

Ma T et al.

Advances in Experimental Medicine and Biology, 2021

Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Huang Q et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020

Robust classification of protein variation using structural modelling and large-scale data integration.

Baugh EH et al.

Nucleic Acids Research, 2016

26926108 (PubMed )
Supplement: supp_gkw120_nar-00426-z-2016-File002.pdf

The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Bin Dhuban K et al.

Current Opinion in Allergy and Clinical Immunology, 2015

Fetal-onset IPEX: report of two families and review of literature.

Xavier-da-Silva MM et al.

Clinical Immunology (orlando, Fla.), 2015

DNA binding by FOXP3 domain-swapped dimer suggests mechanisms of long-range chromosomal interactions.

Chen Y et al.

Nucleic Acids Research, 2015

FOXP3: genetic and epigenetic implications for autoimmunity.

Katoh H et al.

Journal of Autoimmunity, 2013

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

d'Hennezel E et al.

Journal of Medical Genetics, 2012

Comparative Genomics Reveals Key Gain-of-Function Events in Foxp3 during Regulatory T Cell Evolution.

Andersen KG et al.

Frontiers in Immunology, 2012

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells.

Bandukwala HS et al.

Immunity, 2011

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Harbuz R et al.

Prenatal Diagnosis, 2010

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Digestive histopathological presentation of IPEX syndrome.

Patey-Mariaud de Serre N et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2009

FOXP3 and its partners: structural and biochemical insights into the regulation of FOXP3 activity.

Zhou Z et al.

Immunologic Research, 2008

FoxP3 enhances HIV-1 gene expression by modulating NFkappaB occupancy at the long terminal repeat in human T cells.

Holmes D et al.

The Journal of Biological Chemistry, 2007

Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor.

Lopes JE et al.

Journal of Immunology (baltimore, Md. : 1950), 2006

Structural analysis of disease-causing mutations in the P-subfamily of forkhead transcription factors.

Banerjee-Basu S et al.

Proteins, 2004

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.

Gambineri E et al.

Current Opinion in Rheumatology, 2003

IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena.

Bennett CL et al.

Current Opinion in Pediatrics, 2001

Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation.

Baud O et al.

The New England Journal of Medicine, 2001

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Wildin RS et al.

Nature Genetics, 2001

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