138 citations
,
June 2012 in “Genes & Development” This study found that dermal Shh signaling regulates specific dermal papilla signatures essential for maintaining hair follicle development, suggesting that the Shh-Noggin signaling loop is crucial for hair morphogenesis.
115 citations
,
March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
112 citations
,
August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
103 citations
,
March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
94 citations
,
April 2018 in “Nature Genetics” This study identified more than 100 genetic loci associated with hair color variation in Europeans, explaining a significant portion of the trait's heritability and advancing understanding of hair pigmentation.
82 citations
,
September 2020 in “Briefings in Bioinformatics” This study identified shared genes and pathways in idiopathic pulmonary fibrosis patients with COVID-19, suggesting these may increase mortality and pointing to potential drug targets for treatment.
78 citations
,
August 2012 in “Human molecular genetics online/Human molecular genetics” This study found that three genetic loci, including the newly identified JMJD1C, are associated with circulating testosterone and dihydrotestosterone levels, explaining a small portion of their variance in European men.
74 citations
,
January 2013 in “Journal of Investigative Dermatology” Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
64 citations
,
March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
60 citations
,
November 2013 in “Development” This study found that the creation of hair follicle lumens in mice is driven by the outward migration of keratin 79-positive cells, suggesting a novel mechanism for generating hollow cores in hair follicles.
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.
46 citations
,
October 2018 in “JCI insight” In this study, the researchers found that treatment with the JAK inhibitor tofacitinib in alopecia areata patients may reduce clonal CD8+ T cell expansions but does not eliminate them entirely, which could contribute to disease relapse.
42 citations
,
April 2021 in “Pharmaceuticals” This study identified five FDA-approved drugs—cepharantine, clofazimine, metergoline, imatinib, and efloxate—as potential candidates for repurposing to interfere with viral entry in COVID-19 treatment.
39 citations
,
May 2013 in “Optometry and vision science” This monograph outlines a new method for identifying Demodex mites in eyelashes without epilation by rotating the eyelash within its follicle.
39 citations
,
March 2007 in “Journal of Cosmetic Dermatology” This study in identical twin males with androgenetic alopecia found that dutasteride significantly improved hair growth compared to placebo over one year.
39 citations
,
July 2000 in “British Journal of Dermatology” This report on identical female twins with folliculitis decalvans suggests a possible genetic component to the disease, marking the first such case in twins.
36 citations
,
February 2004 in “Veterinary Dermatology” This report describes three cases of feline exudative dermatitis in neutered European cats, associated with lymphangiosarcoma, confirmed by histopathological and ultrastructural findings.
32 citations
,
November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
29 citations
,
March 2023 in “European Journal of Human Genetics” This study identified four new genetic loci associated with acne risk and highlighted key pathways involved in its genetic predisposition, potentially explaining 9.4% of acne's phenotypic variance.
25 citations
,
August 2017 in “Animal Biotechnology” This study identified and characterized several long noncoding RNAs in Cashmere goats, revealing complex regulatory roles in hair follicle development and growth, particularly within the Wnt signaling pathway.
22 citations
,
July 2016 in “PLoS ONE” This study identified specific microRNAs and genes associated with the differing wave patterns in Hu sheep hair follicles, which may help understand the molecular mechanisms behind wool quality.
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.
21 citations
,
July 2006 in “Veterinary dermatology” In this study, researchers reported that CD34 expression in the isthmic region of canine hair follicles suggests a potential stem cell compartment in this area.
20 citations
,
March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
20 citations
,
June 2019 in “JAAD Case Reports” This article reviews the use of tofacitinib for rheumatoid and psoriatic arthritis and alopecia areata, noting potential serious side effects, but reports no cases of palmoplantar pustulosis from the therapy.
19 citations
,
April 2020 in “Psychological Medicine” This study identified three symptom trajectory groups in individuals with PMDD, highlighting variations in symptom severity and duration across the luteal and follicular phases.
19 citations
,
July 2006 in “Acta crystallographica” This study determined that previous reports mistakenly identified different polymorphs of furosemide and finasteride, which are actually identical, due to incomplete data collection in single-crystal X-ray diffraction analysis.
17 citations
,
October 2021 in “Cellular & Molecular Biology Letters” This study identified novel biomarkers through gene expression differences between keratinocytes and fibroblasts in newborn mice, which may aid in developing therapies for skin conditions.
17 citations
,
December 2013 in “PLoS ONE” This study found that the postnatal thymus contains a population of mesenchymal stem cells that may help maintain functional thymic microenvironments.
17 citations
,
March 2012 in “The Journal of Pathology” This article argues that lineage labeling with genetic markers is the gold standard for identifying epithelial stem cells, contrary to the view that in vitro methods alone are sufficient.