April 2024 in “Human genomics” This study identified MPB susceptibility genes and potential drug candidates that may help uncover molecular mechanisms and address male-pattern baldness.
January 2024 in “Research Square (Research Square)” This study identified robust susceptibility genes and potential drug candidates for male-pattern baldness, providing insights into the condition's molecular mechanisms.
144 citations
,
March 2013 in “Circulation Research” This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.
April 2025 in “International Journal of Dermatology and Venereology” This study found a significant causal relationship between androgenetic alopecia and schizophrenia, but no causal association between schizophrenia and androgenetic alopecia.
1 citations
,
November 2025 in “Science Advances” This research identified two genetic variants that influence the white-spotted coat patterns in Holstein-Friesian cattle, involving regulatory changes in the MITF and KIT genes, confirmed through mouse models, along with possible effects on coat patterns in other cattle breeds.
April 2018 in “Journal of Investigative Dermatology” This study investigated novel genetic tools to manipulate hair follicle compartments in mice and found that altering dermal papilla genes can significantly impact hair pigmentation.
February 2024 in “Clinical, Cosmetic and Investigational Dermatology” This study reports a solid causal relationship between increased serum levels of ApoB, LDL, and VLDL and an elevated risk of androgenic alopecia.
1 citations
,
January 2025 in “Aging and Disease” The study emphasizes that telomere shortening is identified as the sole cause of aging among the twelve hallmarks and suggests that increasing telomere and rDNA array length in adult stem cells might effectively reverse aging and extend lifespan.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
69 citations
,
January 2013 in “Frontiers in Immunology” This review summarizes existing knowledge on the role of FOXN1 as a key regulator of thymic epithelial cell lineage and function, reporting no new experimental results.
13 citations
,
October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
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.
7 citations
,
January 2017 in “American Journal of Biological Anthropology” This review explores the various genetic, hormonal, environmental, and nutritional factors proposed to explain the historically shorter stature of Sardinians, while reporting no new empirical findings.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members.
129 citations
,
January 2019 in “Clinical medicine insights” This review discusses the mechanisms linking obesity and polycystic ovary syndrome and explores potential management options, but it presents no original research findings.
78 citations
,
October 2020 in “Experimental Dermatology” This review summarizes 15 years of clinical and experimental research advancements in hidradenitis suppurativa, highlighting its recognition as a uniquely healable inflammatory skin disease but reports no new clinical results.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
6 citations
,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
36 citations
,
October 2016 in “Bone” This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.
127 citations
,
January 2015 in “Journal of Biological Rhythms” This review discusses the role of the circadian clock in skin functions such as cell proliferation and UV protection and reports no new results; the authors note its potential in studying immune regulation and seasonal behaviors.
58 citations
,
December 2020 in “Mayo Clinic Proceedings” This paper discusses the variability in COVID-19 susceptibility and severity, emphasizing factors like biological differences and suggesting potential precision medicine approaches, but it reports no new clinical results.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
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.
1 citations
,
January 2019 in “Springer eBooks” Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
May 2026 in “The EMBO Journal” This study explores the complex mechanisms of skin aging, including cellular senescence and disrupted communication, and highlights rejuvenation strategies like gene expression rewiring and microbiome modulation, offering potential frameworks for regenerative therapies and precise interventions in skin and systemic aging.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.