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.
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.
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.
1 citations
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January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
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.
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.
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.
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.
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.
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.
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.
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.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
November 2025 in “Frontiers in Immunology” In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
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.
March 2024 in “Frontiers in genetics” This review discusses the insights gained from single-cell RNA sequencing of fibroblasts in various cancers and wound healing, highlighting differences in gene expression and novel interactions.
40 citations
,
October 2012 in “Dermatologic clinics” This review highlights the need for a deeper understanding of the genetic mechanisms in alopecia areata to develop evidence-based treatments, but it provides no new experimental results.
29 citations
,
November 2022 in “Nature Medicine” This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.
29 citations
,
January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.
37 citations
,
December 2020 in “PLANT PHYSIOLOGY” In this study, the researchers identified a temperature-sensitive mutant in Arabidopsis thaliana, showing disrupted root hair formation and altered responses to plant hormone treatments at elevated temperatures.
23 citations
,
June 2023 in “Cell Reports” In this study, researchers used transcriptomics and modeling to uncover previously unknown cell populations and marker genes in developing hair follicles, providing insights into early cell fate establishment and offering tools for further research on skin appendages.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study highlighted the significance of integrating single-cell RNA sequencing with spatial transcriptomics for improving cell-type identification in human skin, emphasizing the need for a comprehensive cell atlas.
247 citations
,
June 2021 in “Frontiers in Cell and Developmental Biology” This review discusses the role of lncRNA Xist in cell growth regulation and disease development, particularly cancer, and reports no new experimental results.
March 2026 in “Biomolecules” This review highlights the critical role of microRNAs in regulating hair follicle biology, significantly impacting wool and cashmere development by modulating gene expression and signaling pathways in sheep and goats.
1533 citations
,
October 2008 in “Endocrine reviews” This research highlights that engineered mice lacking the vitamin D receptor show multiple health issues similar to human vitamin D deficiency, underscoring the widespread impacts of the vitamin D endocrine system.
2 citations
,
January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
359 citations
,
September 2017 in “European Journal of Epidemiology” This article discusses the rationale, design, and significant findings of the long-running Rotterdam Study but reports no new clinical results.