4 citations
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June 2024 in “Animals” This review examines the genetic factors influencing coat color in horses and donkeys, highlighting key genes like MC1R, TYR, MITF, ASIP, and KIT, and discusses implications for selective breeding and the relationship between coat color and specific equine diseases.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
January 2026 in “Wound Repair and Regeneration” This review summarizes the latest progress and challenges in skin organoid research, emphasizing advancements in organoid construction, applications in disease modeling, and factors affecting tissue maturation, while noting barriers such as vascularization and neural integration that hinder clinical translation.
37 citations
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January 2022 in “Frontiers in Genetics” This study found that dermal sheath stem cell characteristics are lost with aging in humans, affecting skin rejuvenation and structure, and identified specific proteins like Activin A influencing keratinocyte and fibroblast activity.
5 citations
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October 2022 in “Frontiers in Genetics” This study presents the first documented case of a woman with Alström syndrome successfully conceiving and giving birth, highlighting the importance of managing systemic comorbidities during pregnancy.
2 citations
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June 2022 in “Cells” The study found that growing dermal papilla cells in 3D spheroids enhances their activity with hair growth-promoting agents, such as minoxidil and TCQA, compared to traditional 2D cultures.
January 2026 in “Burns & Trauma” This study reported that NLRP3 plays complex roles in wound healing by initially promoting inflammation and delaying repair, but later enhancing structural restoration through distinct signaling pathways, highlighting its potential as a therapeutic target for controlling inflammation and regeneration phases.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
September 2025 in “Genes” In this study, researchers reported that specific gene polymorphisms in Jiangnan cashmere goats, particularly SNPs in the HOXC13 and WNT4 genes, were significantly associated with key economic traits like birth weight and yearling weight, providing molecular markers for breeding and enhancing economic trait stability.
2 citations
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July 2023 in “Frontiers in Endocrinology” This review identified and evaluated polycystic ovary syndrome models of care, finding that only three fully aligned with international guidelines and generally received positive feedback on satisfaction; just one showed an impact on patients' BMI.
January 2012 in “eScholarship (California Digital Library)” This study found that human hair shafts are a rich and stable source of RNA, which can be extracted for analysis and used in personalized medicine and diagnostic applications.
April 2017 in “Journal of Investigative Dermatology” Certain compounds can protect hair cells from aging and promote growth.
September 2024 in “Reproduction and Fertility” This review highlights the limited effectiveness of current unlicensed treatments for male subfertility, like hormonal therapy and antioxidants, and emphasizes new drug discovery methods such as high-throughput screening and drug repurposing to improve treatment development for male subfertility.
112 citations
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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.
89 citations
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January 2020 in “PubMed” This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.
29 citations
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March 2010 in “Cancer epidemiology” This study found that early-onset male pattern baldness was associated with a reduced relative risk of prostate cancer.
January 2026 in “Microsystems & Nanoengineering” This review discusses advancements in skin microphysiological systems, such as 3D bioprinting, skin organoids, and skin-on-a-chip, and their effectiveness in emulating human skin functions for research and preclinical applications, highlighting the potential for replacing animal testing with these innovative technologies.
January 2026 in “Preprints.org” In this study, researchers identified four novel variants in the FGF5 gene associated with the long-haired phenotype in dogs, suggesting additional unexplored genetic factors contribute to this trait beyond the known Lh1-Lh5 alleles.
November 2024 in “Revista de Investigación y Educación en Ciencias de la Salud (RIECS)” In this case study, a 7-year-old girl was diagnosed with Isolated Premature Pubarche after presenting with pubic hair growth and normal hormonal and bone age assessments.
42 citations
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January 2014 in “BMC Genomics” This study highlights the loss of hair-type keratin genes in cetaceans compared to terrestrial mammals, suggesting a potential adaptive role linked to their hairless phenotype and habitat changes.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
4 citations
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October 2023 in “Journal of clinical medicine” This meta-analysis found that women with polycystic ovary syndrome have over a 2.5-fold higher risk of depression compared to healthy women.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.
October 2023 in “Cell & bioscience” This study identified a primitive coarse wool characteristic in Merino sheep that enhances environmental adaptability and fine wool yield without reducing quality, suggesting that epigenetic mechanisms, particularly involving the imprinted Gtl2-miRNAs locus, regulate this advantageous trait.
September 2025 in “International Journal of Molecular Sciences” This study found that injecting nu/nu mice with aqueous dispersion of unmodified fullerene C60 significantly stimulated hair growth compared to controls, suggesting its potential as a new therapeutic approach for alopecia.
July 2024 in “Journal of Investigative Dermatology” Bioengineered skin models aging well, useful for studying aging and testing treatments.
June 2024 in “Computational and Structural Biotechnology Journal” This review discusses the integration of omics analyses in androgenetic alopecia research, reporting no new clinical results but suggesting that collaborative multi-omics studies may enhance understanding of AGA's pathomechanisms.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
This study found that integrating machine learning enhances the predictive accuracy of forensic DNA phenotyping from low template DNA, achieving high accuracy for traits like eye color, although challenges remain for admixed populations and complex traits.