21 citations
,
March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
46 citations
,
November 2007 in “Gene Expression Patterns” This study observed that Trps1 gene expression in mice is precisely regulated in skin development, particularly during hair follicle morphogenesis, with distinct localization patterns in different cell types.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” This study found a direct correlation between the testicular feminization gene and decreased androgen receptor activity, potentially explaining the androgen insensitivity in affected individuals.
11 citations
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September 2023 in “Nature Communications” In this study, researchers found that the cell surface protein Lrig1 plays a crucial role in regulating the suppressive function of regulatory T cells, suggesting it as a potential target for treating autoimmune diseases, as evidenced by experiments in mouse models.
October 1984 in “Immunology Today” This study identified a high proportion of dual TCR Treg cells in both lymphoid and non-lymphoid tissues of mice, revealing their tissue specificity, TCR repertoire characteristics, and functional phenotypes.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
32 citations
,
January 2012 in “Clinical & Developmental Immunology” In this study, rheumatoid arthritis patients showed no changes in the number of circulating follicular helper T cells, but these cells had increased CD200 expression, implicating them in disease pathogenesis and suggesting CD200/CD200R as a potential therapeutic target.
January 2012 in “heiDOK (Heidelberg University)” In this study, researchers observed that dormant TRP-2+ melanoma cells in bone marrow can interact with CD8+ T cells in tumor-bearing ret transgenic mice, potentially influencing immune responses.
10 citations
,
December 1990 in “Archives of Dermatological Research”
16 citations
,
March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
53 citations
,
August 2019 in “American journal of human genetics” This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
March 2026 in “Journal of Investigative Dermatology” 7 citations
,
March 2023 in “The Journal of Biochemistry” This study suggests that LONRF1 may play a vital role in linking oxidative damage responses and tissue remodeling during wound healing, with distinct mechanisms in senescent and non-senescent cells.
2 citations
,
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that low temperatures and nitrogen deficiency trigger root hair elongation through a molecular mechanism involving the receptor kinase FERONIA and the TOR Complex 1.
9 citations
,
January 2023 in “International Journal of Biological Sciences” This study suggests that CTHRC1, a protein expressed in cardiac fibroblasts, may improve wound repair and prevent cardiac rupture after myocardial infarction by activating a specific signaling pathway.
37 citations
,
December 2020 in “PLANT PHYSIOLOGY” In this study, the researchers identified a temperature-sensitive mutant in Arabidopsis thaliana, showing disrupted root hair formation and altered responses to plant hormone treatments at elevated temperatures.
40 citations
,
March 2019 in “Nature Communications” This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.
4 citations
,
May 2022 in “Genes & Diseases”
119 citations
,
November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
9 citations
,
January 2017 in “Annals of Dermatology” In this study of a TRPS type I patient, many genes related to keratin and hair development were down-regulated in balding scalp areas, providing new insights into TRPS and hair morphogenesis.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.
111 citations
,
April 2000 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, physiological levels of free T3 significantly enhanced the survival of human hair follicles in vitro.
14 citations
,
November 2022 in “Development” This review discusses how transposable element activation may hinder tissue regeneration and explores mechanisms to control this activity, reporting no new experimental results.
1 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.