260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
November 2024 in “Journal of Investigative Dermatology” In this study, researchers investigated changes in ribosomal RNA modifications associated with stress-induced cellular senescence in human skin cells, identifying potential biomarkers and targets for interventions to mitigate skin aging.
November 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers engineered ventral skin organoids (vSkOs) with specific cellular compositions and signaling environments to generate human amnion-like tissues called Amnioids, offering new tools for studying human development and potential regenerative therapies.
May 2018 in “Journal of Investigative Dermatology” Activating Wnt in skin cells controls the number of hair follicles by directing cell movement and fate.
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.
11 citations
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October 2017 in “Mycoses” In this case report, an 80-year-old male with severe sycosis barbae and no animal contact was successfully treated with oral terbinafine after diagnostic sequencing identified Trichophyton verrucosum as the infecting species.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
12 citations
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December 2016 in “The FASEB Journal” This study found that the absence of vitamin D receptor-mediated suppression of PPARγ expression causes hair loss in VDR-null mice.
May 2026 in “Signal Transduction and Targeted Therapy” This study found that rete ridge morphogenesis in mammalian skin is directed by a BMP-dependent developmental program, which is evolutionarily distinct from other known pathways controlling the development of hair follicles, sweat glands, and fingerprint ridges.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
77 citations
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July 2020 in “Cell” This study found that sympathetic nerves and arrector pili muscles form a niche that modulates hair follicle stem cell activity, revealing their role in hair follicle regeneration.
66 citations
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December 2014 in “Nature Communications” Fibroblasts can be turned into melanocytes for potential skin treatments.
4 citations
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January 2015 in “Journal of microbial & biochemical technology” In this study, the researchers observed that biotin administration in biotin-deficient children with alopecia eliminated certain membrane proteins from their blood, suggesting that biotin might regulate these proteins' expression.
1 citations
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May 2025 in “Scientific Reports” In this study, researchers analyzed skin tissues from two types of Jinlan Cashmere Goats and identified crucial non-coding RNA mechanisms potentially impacting cashmere yield, revealing significant DE lncRNAs, mRNA expressions, and pathways relevant to cashmere quality improvement.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
12 citations
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June 2013 in “The Prostate” This study found that dutasteride more effectively inhibited androgen receptor signaling and reduced cell growth compared to finasteride in prostate cancer cell models, with varying sensitivities across different cell lines.
3 citations
,
October 2024 in “Frontiers in Medicine” This study investigated single-cell changes in photoaged skin, revealing distinct cell clusters and increased activity in PD-L1 and PD-1 pathways in sun-exposed areas, enhancing understanding of UVA-induced skin damage and potential prevention targets for photoaging and UV-induced skin cancers.
July 2026 in “Frontiers in Cellular and Infection Microbiology” This study found that patients with androgenetic alopecia had increased scalp microbial diversity and reduced Staphylococcus abundance, particularly in the frontal and vertex regions, suggesting this dysbiosis as a sensitive indicator of AGA.
244 citations
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September 2008 in “Annual Review of Genomics and Human Genetics” This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.
7 citations
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October 2024 in “Frontiers in Immunology” In this study, researchers prepared a humanized CXCL12 antibody for alopecia areata treatment, finding it significantly delayed disease onset in mice and reduced immune cell activation, suggesting potential as an immune modulatory therapy.
This study investigated the molecular mechanisms behind cashmere goat coat types by analyzing gene expression during hair follicle development stages, identifying regulatory pathways involved in metabolism, immune response, and the quiescent state of follicles, potentially aiding in genetic selection for improved cashmere production.
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.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This research examined the transcriptional landscape of quiescent melanocyte stem cells (qMcSCs) in adult female mice, revealing significant heterogeneity within this cell population and identifying novel subpopulations that vary in immune privilege regulation, melanocyte differentiation potential, and neural crest potential.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
This study found that 62 plasma proteins are significantly associated with the risk of obstructive sleep apnea, offering potential targets for new therapeutic strategies.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
17 citations
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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.
August 2023 in “Scientific reports” In this study, researchers differentiated human induced pluripotent stem cells into dermal papilla-like cells and observed gene expression dynamics during five stages of dermal differentiation, demonstrating the potential of these cells to interact with epidermal cells in functional assays.