January 2016 in “Methods in molecular biology” This study identified a population of GFP-expressing nestin-positive cells in transgenic mice hair follicles that varied in location during different hair cycle phases, suggesting a shared relationship with neural stem cells.
114 citations
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May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
April 2018 in “Journal of Investigative Dermatology” This study found that DC-HIL+ myeloid derived suppressor cells are increased in the blood and skin of patients with cutaneous lupus erythematosus and show immunosuppressive properties.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
7 citations
,
January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
This study found that targeting S1PR1 signaling in mouse aortic endothelial cells helps suppress inflammation-related gene expression while revealing diverse and spatially distinct endothelial cell subtypes.
6 citations
,
April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
11 citations
,
October 2023 in “mSphere” This study reported that the PrrH sRNA in *Pseudomonas aeruginosa* may directly regulate genes involved in pyochelin siderophore biosynthesis, highlighting its role in adapting to heme availability, with light conditions influencing this gene expression.
December 2022 in “Archives of Clinical Trials” In this case series study, mild ovarian hyperstimulation syndrome was reported in only one out of 118 PCOS patients receiving highly purified HMG injections for IVF treatment.
8 citations
,
April 2016 in “Experimental Dermatology” The researchers reported that in mice, the type of tumor suppressor deleted along with oncogenic Kras activation in HFSCs influenced the specific squamous cell carcinoma phenotype that developed.
11 citations
,
December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
19 citations
,
September 2019 in “EMBO molecular medicine” This study found that deletion of c-Jun and JunB in mouse bulge hair follicle stem cells was sufficient to trigger psoriasis-like skin disease through thymic stromal lymphopoietin signaling.
5 citations
,
May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
4 citations
,
March 2021 in “Journal of Histotechnology” In this study, researchers observed that hidradenitis suppurativa lesions were associated with reduced collagen and elastin, and increased neovascularization in areas with chronic inflammation.
1 citations
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May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
9 citations
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September 2024 in “Journal of Clinical Medicine” This review examines the role of autoinflammation and immune dysregulation in hidradenitis suppurativa, linking it to genetic factors and autoinflammatory syndromes, but highlights the need for further research to fully understand its pathogenic mechanisms.
42 citations
,
July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
372 citations
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December 2004 in “Nature Genetics” 324 citations
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May 2002 in “Oncogene”
10 citations
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January 2013 in “Journal of skin cancer” In this study, PKC ε transgenic mice exposed to ultraviolet radiation showed increased hair follicle stem cell frequency and altered gene expression compared to wild-type mice, suggesting a potential role in skin cancer susceptibility.
32 citations
,
July 2017 in “Oncotarget” This study found that intermittent treatment with FTI lonafarnib and sulforaphane may be a promising therapeutic approach for children with Hutchinson-Gilford progeria syndrome, as it improved the cellular phenotype.
7 citations
,
August 2019 in “JAAD Case Reports” This article reviews the potential relationship between serum amyloid A and hidradenitis suppurativa, highlighting genetic influences, but reports no new clinical findings.
April 2025 in “Cellular and Molecular Biology” This study found that human dermal stem/progenitor cells demonstrated greater proliferation and differentiation potential than hair follicle dermal papilla cells, which showed increased expression of hair regeneration markers.
166 citations
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July 1999 in “American Journal Of Pathology” This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.
7 citations
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May 2019 in “Journal of the Formosan Medical Association” This study found that overweight women with polycystic ovary syndrome carrying the HSD3B1 1245C allele had an increased presence of female pattern hair loss compared to those with the wild-type genotype.
99 citations
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September 2004 in “Development” This study suggests that deregulation of sonic and desert hedgehog signaling in mouse skin can lead to altered epidermal stem cell activity and lesions similar to human basal cell carcinoma, indicating these cancers may originate outside the stem cell population.
50 citations
,
September 2023 in “Biomarker Research” This review focuses on S100A6, a Ca²⁺-binding protein, detailing its role in cell functions, the regulation of its expression, and its potential as a biomarker and therapeutic target in various diseases.