26 citations
,
September 2010 in “Experimental Dermatology” In this study, researchers identified two independent genetic variants near the androgen receptor gene strongly associated with androgenetic alopecia in men.
3 citations
,
June 2020 in “Developmental Cell” This study observed that in chicken skin, large-scale differences in gene expression between feathered and scaly skin are controlled by enhancer-driven uniform expression, while small-scale differences within individual feathers are associated with chromatin looping.
28 citations
,
August 2018 in “BMC genomics” This study found that the DNA methylation status of skin samples from cashmere goats was higher during the telogen stage compared to the anagen stage, identifying genes potentially important for hair follicle development and growth.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.
49 citations
,
June 2019 in “eLife” This study reported the discovery of large-scale haplotypes (cenhaps) in human centromere regions, revealing deep genetic diversity, including introgressed Neanderthal and ancient African lineages.
January 2021 in “Research Square (Research Square)” This study mapped copy number variations in Chinese fine-wool sheep, identifying regions linked to important traits like milk production and growth, and highlighting a strong selection signal at the RXFP2 gene.
3 citations
,
January 2025 in “Animal Genetics” In this study, researchers conducting a genome-wide association study on 263 adult female goats identified significant genomic variants linked to coarse hair diameter, particularly emphasizing a crucial region on Chromosome 10. These findings enhance understanding of the genetic factors influencing fiber diameter in goats.
14 citations
,
April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
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.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.
13 citations
,
April 2009 in “PLOS ONE” This study found no evidence that androgen receptor copy number variation is associated with androgenetic alopecia, suggesting it is unlikely to be a contributing factor.
5 citations
,
November 2022 in “Animal Genetics” This review discusses selection signatures and selective sweeps in fiber-producing animals and recommends further genomic investigations to identify genes related to important fiber traits, without providing new results.
12 citations
,
September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
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.
April 2026 in “Frontiers in Immunology” In this study, researchers did not find any genome-wide significant genetic signals linked to comorbid chronic inflammatory disorders in patients with alopecia areata, but exploratory analysis suggested potential associations worth further study.
7 citations
,
October 2018 in “BMC genomics” This study reveals that β-catenin and retinoic acid are key regulators in the gene networks controlling the fate of skin appendages, such as scales and feathers.
6 citations
,
August 2014 in “Spectroscopy Letters” This study reported that the calculated and experimental electronic and vibrational properties of minoxidil were in good agreement, providing detailed insights into its molecular structure and thermal behaviors.
May 2020 in “Research Square (Research Square)” This study found that trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting a similar pathogenesis, particularly in those with aggressive clinical courses linked to TP53 mutations.
April 2020 in “Research Square (Research Square)” This study reported genetic mutations in trichilemmal carcinoma similar to those found in other skin cancers, including TP53 mutations associated with aggressive disease.
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.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
222 citations
,
January 2005 in “Endocrine journal” This article discusses the potential role of melatonin in protecting skin against stress and maintaining homeostasis, based on its local synthesis and various protective functions, but presents no new clinical results.
220 citations
,
August 1988 in “Clinical endocrinology” This review provides a comprehensive overview of melatonin's physiological roles, effects, and clinical implications, but it does not present new experimental findings.
196 citations
,
March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
45 citations
,
July 2009 in “Journal of human genetics” This study found that an SNP in the FGFR2 gene, rs4752566, was significantly associated with hair thickness in Asian populations, suggesting an effect on hair morphology through altered FGFR2 expression levels.
32 citations
,
April 2019 in “JAAD case reports” This study discusses the immune dysregulation observed in individuals with Down syndrome, highlighting their increased risk for autoimmune skin conditions, but does not yet clarify the molecular mechanisms behind this profile.
5 citations
,
January 2022 in “Scientific reports” This study identified distinct gene expression programs in keratinocytes responsible for forming hard scales and soft interscale epidermis in chickens, revealing conserved differentiation genes similar to those in human skin.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
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.
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.