70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
68 citations
,
September 2018 in “International Journal of Molecular Sciences” In this study, researchers found that exposure to PM10 significantly increased inflammation and impaired collagen synthesis in human dermal fibroblasts, suggesting PM10 contributes to skin aging through these mechanisms.
65 citations
,
October 2018 in “Frontiers in cellular and infection microbiology” This study observed that dandruff in Indian women is associated with a distinct scalp microbiome, including specific bacterial and unknown Malassezia species, with implications for nutrient homeostasis and cell-host adhesion pathways.
62 citations
,
March 2008 in “American Journal of Human Genetics” This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.
61 citations
,
October 2010 in “Postgraduate Medical Journal” This study found that dermatological issues, such as xerosis and pigmentation, are common in chronic kidney disease patients and increase with the severity and duration of the disease, indicating that dialysis often exacerbates these conditions.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
59 citations
,
June 2023 in “Nature Aging” This study observed that in aged mouse skin, there was an increase in IL-17-expressing T helper cells, γδ T cells, and innate lymphoid cells, and blocking IL-17 signaling reduced skin inflammation and delayed age-related changes, suggesting it as a potential target to mitigate skin aging.
58 citations
,
June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
55 citations
,
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.
53 citations
,
September 2020 in “Stem Cell Research & Therapy” This review discusses strategies to enhance mesenchymal stem cell therapy effectiveness but reports no new clinical results; it highlights the need for improved consistency and efficacy in MSC-based treatments.
51 citations
,
November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
50 citations
,
July 2021 in “Nature Communications” This study found that the antiandrogen drug enzalutamide reduced TMPRSS2 levels and significantly decreased SARS-CoV-2 entry and infection in lung cells, supporting further clinical trials for COVID-19 treatment.
47 citations
,
May 2020 in “Cardiovascular Research” This review explores how sex differences influence the pathophysiology, incidence, and treatment outcomes of ischaemic heart disease, and emphasizes the need for more sex-specific research.
47 citations
,
December 2006 in “Therapy” This study found that a dietary supplement containing L-cystine, medicinal yeast, and pantothenic acid significantly improved hair growth in women with telogen effluvium over six months compared to placebo.
41 citations
,
January 2009 in “International Journal of Trichology” This study found that 58% of men aged 30-50 had androgenic alopecia, with disease severity increasing with age and many being candidates for medical treatment or hair transplantation.
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.
35 citations
,
August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
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.
28 citations
,
August 2015 in “Journal of functional biomaterials” This review examines cell-based therapies for limbal stem cell deficiency, highlighting epidermal and hair follicle-derived stem cells as promising candidates for future clinical trials, but reports no new clinical findings.
28 citations
,
March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
27 citations
,
April 2020 in “Molecular Biology and Evolution” This study found that ancient and modern Chinese goats share close genetic ties, originating from the Fertile Crescent, with genetic divergence influenced by China's climatic divisions.
27 citations
,
March 2018 in “Biomaterials” This study found that a cocktail of three proteins from embryonic skin can enable adult fibroblasts to regenerate hair follicles by altering gene expression and activating regenerative signaling pathways.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
22 citations
,
May 2021 in “Nature Communications” This study found that in wound-induced hair neogenesis, African spiny mice and laboratory mice exhibit different morphogenetic field formation patterns related to tissue stiffness, suggesting evolutionary developmental biology advantages.
21 citations
,
June 2016 in “Genesis” This study identified a gene expression signature in mouse embryonic dermal fibroblasts that depends on Wnt/β-catenin activity, potentially influencing dermal fibroblast identity and function.
20 citations
,
September 2021 in “Nature communications” In this study, researchers identified a gene expression pre-pattern and implicated the Wnt inhibitor Dickkopf 4 in the formation of color patterns in domestic cat embryos.
17 citations
,
June 2019 in “The journal of immunology/The Journal of immunology” This study identified a regulatory element necessary for Foxn1 expression specifically in mouse thymic epithelial cells, crucial for thymus development but not affecting hair follicles.