This report presents a case of IFAP syndrome with the typical symptoms of alopecia universalis, severe photophobia, and follicular ichthyosis, but provides no additional clinical findings or conclusions.
1 citations
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September 1986 in “Journal of the Forensic Science Society” This study found that hair root sheaths can be accurately typed for erythrocyte acid phosphatase, adenylate kinase, and adenosine deaminase, consistent with blood typing results from the same donors.
8 citations
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that weakened anchorage of hair shafts, associated with the abnormal expression of 14-3-3σ, may contribute to alopecia in Er/+ mice.
March 2026 in “Journal of Investigative Dermatology” 172 citations
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March 2019 in “The EMBO Journal” This study found that in Arabidopsis thaliana, the interaction between extracellular leucine-rich repeat extensins and the receptor-like kinase FERONIA helps control vacuolar expansion, crucial for cellular elongation.
6 citations
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July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
9 citations
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February 2024 in “mBio” This study found that biliverdin beta and delta, metabolites of heme, play a critical role in Pseudomonas aeruginosa iron acquisition and cooperative behaviors, which are crucial for the bacterium's long-term infection in cystic fibrosis patients, suggesting potential targets for new therapies.
July 2024 in “New Phytologist” This study suggests that the transcription factor PDF2 in Arabidopsis may link lipid sensing with growth responses to phosphate starvation by acting as a sensor for lyso-PCs through its START domain.
April 2025 in “Journal of the Association for Research in Otolaryngology” In this study, researchers observed that inhibiting myosin light chain kinase in hair cells reduced stiffness and oscillation in bullfrog hair bundles and increased hearing thresholds in mice.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
79 citations
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March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
October 2025 in “Advanced Materials” In this study, researchers developed ionizable coenzyme Q10-engineered lipid/fiber microplexes that restored mitochondrial-ribosomal function and enhanced mRNA translation in senescent cells, leading to increased hair follicle density and bone formation in mouse models compared to conventional lipid nanoparticles.
12 citations
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February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
71 citations
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May 2007 in “The FASEB journal” This study found that human hair follicles express erythropoietin and its receptor, suggesting these follicles may use erythropoietin signaling to modulate apoptosis under stress conditions like hypoxia and chemotherapy.
83 citations
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February 1991 in “Development” This study found that Fos protein expression is closely linked to epithelial cell differentiation, particularly during cornification and cell death, with overexpression observed in keratinization-blocked mutant epidermis.
6 citations
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January 2020 in “Czech Journal of Animal Science” This study found that specific SNPs in the sheep FAT1 gene are significantly associated with wool quality traits, suggesting potential markers for improving wool crimp, fibre length, and fibre diameter in breeding.
3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study used a novel fluorescent tagging method in mice to observe collagen IV dynamics during hair follicle development, revealing that alterations in basement membrane turnover can influence epithelial progenitor cell behavior and organ morphology by affecting cell proliferation and movement.
March 2016 in “Experimental Dermatology” This study reported that EGFR activation leads to suppression of Stathmin, which may promote synchronized entry into catagen in hair follicles, highlighting potential mechanisms involving EGFR in hair cycle transitions.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
6 citations
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January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
11 citations
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October 2017 in “Journal of Investigative Dermatology” This study found that topical application of mitochondrial electron transport chain inhibitors stimulated hair follicle stem cell activation and hair regrowth in aged mice by promoting lactate production.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
5 citations
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March 2019 in “Journal of lipid research” This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.
1 citations
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November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
35 citations
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September 2012 in “PloS one” This study found that in Arabidopsis seedlings, tonoplast intrinsic proteins are targeted to the vacuole via at least two pathways, including pathways with differing sensitivity to a chemical inhibitor that affect root hair growth and PIN2 targeting.
6 citations
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June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.