20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
1 citations
,
April 2023 in “Frontiers in Genetics” This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.
21 citations
,
November 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that telogen, a resting phase of the hair follicle cycle, is characterized by dynamic gene expression, including enhanced cholesterol metabolism and immune signaling, suggesting it is an active regulatory phase despite its quiescent appearance.
17 citations
,
March 2022 in “BMC Genomics” This study found that differences in cashmere fiber diameter in Tibetan cashmere goats are associated with variations in metabolic, hypoxic, and stress response-related proteins, offering insights for breeding strategies.
January 2024 in “Frontiers research topics” This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.
15 citations
,
March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” This review discusses the role of acyl-CoA binding protein (ACBP) in the epidermal barrier, noting that its disruption in mice is linked to skin and fur abnormalities; it reports no new clinical results.
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.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
3 citations
,
September 2019 in “Clinical and experimental dermatology” This study found that basal cell carcinoma cells differentiate along hair follicle lineages and may be influenced by hair follicle cycle modulators for potential therapeutic targeting.
24 citations
,
February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
3 citations
,
September 2025 in “Plant Signaling & Behavior” This study observed that extracellular ATP (eATP) levels outside Arabidopsis root cells vary inversely with the expression of AtAPY1 and AtAPY2 apyrases, suggesting these enzymes regulate eATP concentrations crucial for root growth.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
76 citations
,
May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
6 citations
,
January 2015 in “Biochemical Society Transactions” This review discusses the role of Ysc84/SH3yl1 proteins in linking actin regulation to membrane morphology changes but reports no new experimental results.
This research investigated the role of EphA1 in embryonic and adult tissues, generating mouse models suggesting potential links to skin and colon cancer, sepsis, and post-traumatic injury.
6 citations
,
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.
31 citations
,
July 2012 in “Journal of Lipid Research” This study found that the acyl-CoA binding protein is essential for the production of very long chain free fatty acids in the stratum corneum and maintaining normal epidermal barrier function in mice.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
35 citations
,
May 2021 in “Nature communications” This study found that basement membrane components and structures in mouse hair follicles are highly specialized for specific inter-tissue interactions, with laminin α5 playing a crucial role in hair cycle regulation and anchoring.
19 citations
,
December 2016 in “PLOS ONE” This study found that proteins secreted by early-passage dermal papilla cells, including SDF1, MMP3, biglycan, and LTBP1, may play significant roles in hair follicle regeneration.
3 citations
,
March 2020 in “International Journal of Molecular Sciences” This study found that overexpressing the gene Thymosin β4 (Tβ4) can promote the growth and development of secondary hair follicle dermal papilla cells in cashmere goats, suggesting its potential as a target for increasing cashmere production.
2 citations
,
April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that skin surface lipids contain measurable mRNAs, providing a non-invasive way to study skin diseases, with specific gene expression changes observed in atopic dermatitis patients.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reveals that basement membrane composition and structure in mouse hair follicles are specialized for distinct inter-tissue interactions, with laminin α5 being essential for maintaining these interfaces.
March 2024 in “Frontiers in genetics” This review discusses the insights gained from single-cell RNA sequencing of fibroblasts in various cancers and wound healing, highlighting differences in gene expression and novel interactions.
This study examined the molecular communication in psoriasis cells, highlighting unique immune cell interactions and identifying new features of the hair follicle cell-psoriasis axis. It suggests the potential for targeted therapies at the single-cell level to improve psoriasis treatment.
September 2023 in “Nature communications” This study found that VE-cadherin and Alk1, traditionally linked to vascular functions, also play crucial roles in maintaining nerve homeostasis in mice during hair growth cycles by modulating certain cell populations.
June 2023 in “Livestock studies” This review highlights the significance of animal fibers, examining the molecular mechanisms influencing hair follicle development and their impact on fiber quality and quantity, with a focus on studies involving Angora and cashmere goats.
321 citations
,
March 2015 in “Nature” This study found that super-enhancers are essential for hair follicle stem cell identity, lineage commitment, and plasticity in mice, with SOX9 being a key regulator of these chromatin dynamics.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.