9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
1 citations
,
November 2022 in “Frontiers in medicine” This study found differences in melanin content and gene expression in skin under black and white hair of giant pandas, providing a basis for further research on hair color distribution and skin diseases.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
April 2018 in “Journal of Investigative Dermatology” This study found that the loss of transcription factor Ovol2 in epidermal and hair follicle stem cells leads to migration defects, which are partially improved by deleting the EMT-inducing Zeb1.
54 citations
,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.
173 citations
,
January 2014 in “Nature Cell Biology” This study found that Wnt signalling activates hair follicle fate in hair follicle stem cells by relieving TCF3/4–TLE-mediated repression, with β-catenin being crucial for this process.
66 citations
,
May 2021 in “Science Advances” In this study, researchers found that electrospun membranes with aligned surface topography advanced the immune response towards an adaptive stage and highlighted the role of T cells in hair follicle regeneration in mice, showcasing the intricate interactions between immune and skin cells.
36 citations
,
March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
29 citations
,
May 2018 in “Clinical Endocrinology” This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
11 citations
,
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.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
October 2018 in “InTech eBooks” This research suggests that mouse mutants and genomics can help study hair biology and epithelial differentiation by focusing on the role of the Foxn1 gene.
December 2015 in “University of Birmingham Institutional Research Archive (University of Birmingham)” This study showed that regulation of adipose androgen generation via AKR1C3 may contribute to a cycle of hyperinsulinaemia and lipid accumulation in women with PCOS.
125 citations
,
August 2020 in “Frontiers in Immunology” This review discusses sex-based differences in immune responses, focusing on genetic, hormonal, and microbiome factors influencing infections like COVID-19, and reports no clinical results.
1 citations
,
January 2020 in “Research Square (Research Square)” This study found that inherited color dilution in Rex rabbit hair follicles is associated with DNA methylation changes, contributing to understanding the epigenetic regulation of rabbit pigmentation.
April 2016 in “Journal of Investigative Dermatology” This study found that gypenosides from Gynostemma pentaphyllum increased procollagen synthesis in vitro and reduced periorbital wrinkles by about 14% in a clinical trial with 24 women.
301 citations
,
February 2019 in “Nature Communications” In this study, researchers found that wound healing in mouse skin recruits diverse fibroblasts, including myeloid-derived cells, which contribute to regenerating adipocytes.
144 citations
,
September 2012 in “Genes & development” This study found that aging in the epidermis disrupts cytokine balance and stem cell function, which may contribute to broader tumor-suppressive mechanisms.
100 citations
,
September 2017 in “Molecular and Cellular Endocrinology” This review discusses the molecular mechanisms of androgens and androgen receptors in skin disorders, particularly androgenetic alopecia, and reports no new clinical results; it highlights potential areas for future treatment development.
35 citations
,
July 2018 in “Cell Reports” This study found that the dermal papilla of the hair follicle regulates stem cell quiescence and regeneration by modulating Shh and Wnt signaling pathways, highlighting the importance of signaling cross talk in regeneration.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
20 citations
,
June 2014 in “BMC genomics” This study identified the placenta at the base of the ovary as the origin of poplar seed hair development and detailed transcriptome dynamics during the growth process.
17 citations
,
January 2019 in “International journal of biological sciences” This study found that inserting the Tβ4 gene into cashmere goats increased cashmere yield by 74.5% without compromising quality, suggesting potential economic benefits for goat breeding.
17 citations
,
August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
13 citations
,
February 2018 in “Plastic and Reconstructive Surgery” The study found that a specific signaling pathway helps skin wounds heal faster but may lead to larger scars.
13 citations
,
December 2012 in “Frontiers in bioscience” This review discusses the potential role of vitamin D deficiency in cardiovascular and renal diseases and suggests that supplemental vitamin D could benefit cardiovascular outcomes, especially in African American and postmenopausal women; it reports no new clinical findings.