April 2023 in “Journal of Investigative Dermatology” In this study, researchers observed distinct aging signatures in mouse keratinocytes, with increased expression in older mice, and noted relevant pathway changes that were also evident in human skin, suggesting potential insights into intrinsic skin aging.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
June 2024 in “Computational and Structural Biotechnology Journal” This review discusses the integration of omics analyses in androgenetic alopecia research, reporting no new clinical results but suggesting that collaborative multi-omics studies may enhance understanding of AGA's pathomechanisms.
23 citations
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June 2023 in “Cell Reports” In this study, researchers used transcriptomics and modeling to uncover previously unknown cell populations and marker genes in developing hair follicles, providing insights into early cell fate establishment and offering tools for further research on skin appendages.
32 citations
,
May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.
12 citations
,
July 2015 in “Tissue Antigens” In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.
26 citations
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May 2020 in “JCI Insight” In this study, single-cell sequencing revealed clonal expansions of CD4+ and CD8+ T cells in murine and human alopecia areata, supporting the development of predictive models for human disease.
46 citations
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August 2022 in “Animals” This study identified key genes and miRNAs involved in feather morphogenesis in Zhedong White geese, highlighting a negative correlation between FOXO3 and miR-144-y.
39 citations
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January 2020 in “Frontiers in Genetics” This study found that stage-specific epigenetic changes, particularly involving the gene PDGFC, may affect wool fiber development in Zhongwei goats, potentially serving as a biomarker for fur goat selection.
37 citations
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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.
15 citations
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March 2015 in “PloS one” This study demonstrated that an AR-EGFP transgene can restore AR function and fertility in Sertoli cell-specific AR knockout mice, highlighting its potential use in understanding androgen receptor functions.
15 citations
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April 2016 in “Hormones” This review summarizes the clinical features and molecular causes of Primary Generalized Glucocorticoid Resistance, highlighting new findings from the characterization of mutations in the NR3C1 gene, but reports no new experimental results.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
2 citations
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October 2018 in “Skin appendage disorders” This case report describes a 2-year-old boy with uncombable hair syndrome-like hair changes that resolved spontaneously after 9 months, with genetic analysis revealing a PLCD1 gene variant.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
March 2018 in “The journal of applied laboratory medicine” This article presents a case study of a 3-month-old boy with a worsening rash initially diagnosed as impetigo, which did not improve with antibiotics and required further dermatological investigation.
25 citations
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November 2020 in “Proceedings of the National Academy of Sciences” This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.
January 2025 in “JCEM Case Reports” This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.
95 citations
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March 2009 in “Differentiation” Gene expression in wool follicles changes with growth cycles, offering insights into wool and human hair growth.
89 citations
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January 2020 in “PubMed” This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.
31 citations
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October 2019 in “Genes & Diseases” This study identified significant gene expression differences in human basal cell carcinoma, including up-regulation of zinc finger encoding genes, which are not entirely reflected in current mouse models.
24 citations
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May 2022 in “BMC Veterinary Research” This study identified key mRNAs and lncRNAs, along with related pathways, that play potentially important roles in hair follicle development and cycling in cashmere goats.
15 citations
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April 2017 in “Hormones” This review discusses the roles of glucocorticoids and glucocorticoid receptors, and it explores potential genetic and non-genetic causes of glucocorticoid resistance or hypersensitivity syndromes, reporting no new clinical results.
7 citations
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July 2005 in “Journal of Dermatological Science” This study identified a gene transcript overexpressed in dermal papilla cells, showing strong similarity to a mouse gene associated with adipose tissue in bombesin receptor subtype-3-deficient mice.
3 citations
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March 2025 in “Science Advances” This study found that the unique crest feather formation in Polish chickens is driven by a 195-bp duplication in the HoxC10 gene region, which alters gene expression by modifying the genomic structure, suggesting a mechanism for diverse integumentary appendages in birds.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
June 2023 in “International journal of molecular sciences” In this study, researchers observed that heat stress significantly affected hair and skin traits in two indigenous goat breeds, with Kodi Aadu goats demonstrating greater thermal resilience compared to Kanni Aadu goats, potentially due to differences in gene expression and methylation.
This study observed that nevus melanocytes do not exhibit signs of senescence, suggesting that their growth arrest is due to cell interactions and not directly caused by BRAF activation.