26 citations
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September 2009 in “Clinical genetics” This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
January 2019 in “Przegląd Dermatologiczny” This case report describes an 87-year-old woman diagnosed with type 3 autoimmune polyendocrine syndrome, highlighting the importance of recognizing and managing coexisting autoimmune conditions.
2 citations
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December 2023 in “Journal of clinical immunology” This study describes the positive effects of the JAK inhibitor ruxolitinib in treating autoimmune manifestations in three patients with autoimmune polyendocrine syndrome type-1 over a period of at least 30 months, with excellent tolerance and no adverse events observed.
31 citations
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May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
2 citations
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January 2021 in “Case reports in endocrinology” In this case report, a girl with autoimmune polyglandular syndrome type 1 experienced stabilized disease and reversal of alopecia universalis after treatment with glucocorticoids and methotrexate.
January 2019 in “Przegląd Dermatologiczny” This report presents a case of a 57-year-old woman with APS-4, generalized alopecia, and rheumatoid arthritis, emphasizing the need to screen for other autoimmune disorders in patients with a single organ-specific autoimmune disease.
January 2017 in “IMC Journal of Medical Science” This case report describes a 26-year-old man from Bangladesh diagnosed with autoimmune polyendocrine syndrome type 1, a rare endocrine disorder involving adrenocortical insufficiency, hypoparathyroidism, and mucocutaneous candidiasis.
10 citations
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April 2003 in “Clinical neurology and neurosurgery” This case study reports a 33-year-old man with autoimmune thyroiditis and alopecia universalis experiencing reversible CNS demyelination, possibly due to autoimmune activity against CNS antigens.
5 citations
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February 2015 in “Endocrinology Diabetes and Metabolism Case Reports” This case report describes a patient with autoimmune polyglandular syndrome type 3 who experienced total hair regrowth following the successful control of diabetes with insulin therapy.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.
71 citations
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May 2024 in “New England Journal of Medicine” This study investigated the impact of the JAK inhibitor ruxolitinib on APS-1 patients, reporting that treatment decreased excessive T-cell-derived interferon-γ, normalized inflammatory markers, and led to remission of several autoimmune symptoms without serious adverse effects.
September 2024 in “Clinical Case Reports” This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.
62 citations
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January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.
14 citations
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May 2014 in “Archives of plastic surgery” This study found that among Korean males with male pattern baldness, hair loss mostly progresses within 6 cm from the parietal whorl towards the occipital side.
70 citations
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August 2006 in “Cancer Research” This study found that inhibiting AP-1 activity in mice modified tumor development, leading to transdifferentiation between squamous and sebaceous tumors, with molecular analysis suggesting AP-1's role in maintaining tumor cell identity.
This study found that inhibiting AP-1 activity in mice can induce lineage transdifferentiation between squamous and sebaceous tumors, suggesting AP-1's role in maintaining tumor cell identity.
147 citations
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August 2005 in “The Plant Cell” This study identified a key Arabidopsis thaliana gene, TIP1, whose product is involved in S-acylation crucial for normal plant cell growth, particularly affecting root hair development.
11 citations
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June 2017 in “Journal of cell science” In this study, researchers found that AGD1 is crucial for membrane recruitment during root hair development in Arabidopsis thaliana, with its pleckstrin homology domain essential for targeting specific plasma membrane regions.
This study found that inhibiting AP-1 transcription factors in mice causes squamous tumors to transform into sebaceous tumors and regulates tumor cell lineage.
14 citations
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August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.
July 2026 in “Pediatric Allergy and Immunology”
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
3 citations
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January 2015 in “Nasza Dermatologia Online” This review discusses the pathomechanism and pathology of alopecia areata, its classifications, and associated diseases, but reports no new clinical results, highlighting the importance for current and future treatment considerations.
January 2015 in “Our Dermatology Online” This study found that intralesional triamcinolone was the most effective treatment for achieving over 50% hair regrowth in alopecia areata patients, especially those with single patches.
7 citations
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March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
January 2024 in “Wiadomości Lekarskie” This study reports that Abelson Interactor 1 (ABI1) regulates androgen receptor transcription in prostate cancer, identifying it as a potential target for new therapies addressing treatment resistance.