30 citations
,
October 1999 in “Differentiation” This study found that expression of certain mutant keratin genes in mice led to severe alopecia, suggesting a similar mechanism could cause hair loss in humans.
13 citations
,
August 2021 in “Frontiers in Aging Neuroscience” This study found that in SAMP8 mice, phenotypic changes in outer hair cells or the stria vascularis, possibly due to oxidative deficiencies, may predict variability in age-related hearing loss before outer hair cell loss occurs.
This article discusses folliculitis decalvans as a cicatricial alopecia caused by a neutrophilic immune reaction to microbial biofilms, but it reports no new clinical results.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
69 citations
,
May 1997 in “Veterinary Pathology” This study found that the angora mouse mutation prolongs the anagen phase, resulting in excessively long hair and follicular abnormalities, without involving circulating hair cycle factors.
13 citations
,
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified four drugs, including brequinar and abiraterone acetate, that inhibited SARS-CoV-2 infection in vitro, providing potential candidates for repurposing to treat COVID-19.
11 citations
,
July 2022 in “International Journal of Molecular Sciences” This study found that treating reconstructed human epidermis with beta-lipohydroxy salicylic acid increased tight junction remnants in the stratum corneum, potentially affecting skin cohesion and desquamation.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that p21 is much more highly expressed in normal melanocytes compared to melanoma cells, suggesting a potential target for preventing melanoma progression through cell cycle repair processes.
April 2021 in “Medical Science and Discovery” This study found that men with early androgenetic alopecia had higher levels of free testosterone, DHEAS, and LH, along with insulin resistance and higher homocysteine levels, suggesting they share risk profiles similar to PCOS in women.
15 citations
,
January 2019 in “Gynecological Endocrinology” This article discusses the need for a globally standardized protocol for epidemiologic studies of polycystic ovary syndrome to improve study comparability and public health policy.
353 citations
,
November 2014 in “Molecular immunology” This review discusses the immune functions of porcine skin and proposes a classification of dendritic cell subsets based on similarities to human skin, but it reports no new clinical results.
197 citations
,
June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
179 citations
,
July 2005 in “Human Reproduction Update” This review discusses the genetic basis and familial patterns of polycystic ovary syndrome, noting a strong familial component but inconclusive genetic patterns; it reports no new empirical findings.
102 citations
,
April 2014 in “PloS one” In this study, Wharton’s Jelly Mesenchymal Stem Cells, cultured with human platelet lysate, showed enhanced wound-healing capabilities and multilineage differentiation potential, distinguishing them from bone marrow-derived stem cells and presenting exciting prospects for regenerative medicine.
37 citations
,
February 2024 in “Military Medical Research” In this review, biomaterial-based mechanical strategies were highlighted for their potential to enhance skin regeneration and promote scarless repair, though a comprehensive understanding of their underlying mechanisms is still needed for broader application.
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.
33 citations
,
May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
29 citations
,
March 2010 in “Cancer epidemiology” This study found that early-onset male pattern baldness was associated with a reduced relative risk of prostate cancer.
25 citations
,
July 2013 in “Environmental Toxicology and Chemistry” This study found that spironolactone reduced fish fecundity and caused masculinization of females at certain concentrations, while having no effect on Daphnia magna reproduction, underscoring concerns for environmental exposure to vertebrates.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
11 citations
,
July 2021 in “Physiologia Plantarum” In this study, the gene SlPHL1 was identified as a transcription factor in tomatoes that enhances phosphate starvation responses by upregulating specific genes.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
11 citations
,
December 2013 in “International Journal of Dermatology” This study found that variations in the IL16 gene, specifically SNPs rs17875491 and rs11073001, may be associated with increased risk and phenotype expression of alopecia areata in the Korean population.
8 citations
,
April 2015 in “British Journal of Dermatology” This report describes two cases of white piedra caused by Trichosporon inkin in a northern climate, detailing clinical findings and diagnosis without presenting new experimental results.
5 citations
,
June 2016 in “Twin research and human genetics” In this study, heritability analyses in twins and siblings revealed that genetic factors predominantly influence hair diameter and curvature, with notable sex differences in their genetic impact.
3 citations
,
February 2025 in “Journal of PHYSIOLOGICAL ANTHROPOLOGY” This systematic review and meta-analysis found 30 genetic loci associated with skin ageing phenotypes, noting shared biological pathways in aspects like pigmentation and wrinkling; researchers suggest further studies targeting the same SNP across populations could clarify these associations.
3 citations
,
January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
2 citations
,
October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
1 citations
,
March 2023 in “European Journal of Human Genetics” This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
April 2026 in “Institutional Repositories DataBase (IRDB)” This study investigated human hair follicle bulge cells and found that those with reduced CD200 expression exhibited enhanced hair regenerative capability, refining the functional understanding of bulge cell heterogeneity and providing insights for optimizing bulge cell–based hair regeneration techniques.