2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
1 citations
,
August 2024 in “Transgenic Research” In this study, the researchers observed that inducing and then withdrawing β-catenin expression in a bigenic mouse model caused reversible changes in skin morphology, indicating dependence on β-catenin signaling.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
8 citations
,
July 2018 in “Current Sexual Health Reports” This review discusses post-finasteride syndrome, emphasizing its serious psychological and cognitive symptoms and the need for more research and awareness in the medical community, but provides no new clinical findings.
December 2019 in “University of Malaya Students Repository” This study found that Soxhlet extraction is more effective at removing the toxin mimosine from Leucaena leucocephala, and mimosine shows promise as a biodiesel additive due to its antioxidative properties.
10 citations
,
May 2018 in “Forensic Science International” This study concluded that the process of mummification disfigures facial features, making identification challenging, but commercial shrunken heads retain more defining features compared to ceremonial ones.
8 citations
,
September 2022 in “Biointerface Research in Applied Chemistry” This review examines the pharmacological potential of quinoline alkaloids from Cinchona bark for developing new drugs and cosmetics but reports no new findings.
18 citations
,
November 2005 in “European Journal of Cell Biology” Keratin gene clusters in humans and marsupials are similarly organized.
7 citations
,
December 2022 in “Plants” This study suggests that guava leaf extract may inhibit hair loss by downregulating genes involved in androgen synthesis, potentially offering a natural alternative for treating androgenetic alopecia.
3 citations
,
September 2023 in “Genes” This study analyzed the molecular evolution and functional divergence of the Dkk gene family, finding accelerated evolution in Aves and Reptilia and identifying functional differences that may impact hair follicle development via Wnt signaling inhibition.
February 2025 in “Animals” In this review, researchers examined the molecular diversity and expression patterns of major skin appendage proteins, like keratins and EDC proteins, in tetrapods, highlighting recent findings in reptiles and birds and identifying knowledge gaps for future research.
1 citations
,
October 2023 in “Pharmaceuticals” In this study, researchers investigated GAGs from the marine invertebrate Microcosmus exasperatus, finding that its polysaccharides possess antitumoral properties without affecting anticoagulant activity. The unique composition shows potential for cancer treatment when combined with existing therapies in future studies.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
119 citations
,
August 2008 in “BMC Evolutionary Biology” This study found that while the KRTAP gene family is unique to mammals, humans have a similar number of these hair gene types as other primates despite having less body hair.
68 citations
,
April 2014 in “Journal of Investigative Dermatology” This study identified a new S100 fused-type protein, scaffoldin, in reptiles and birds and suggests that SFTP-positive epithelia serve as scaffolds for the growth of various skin appendages, indicating a common evolutionary origin.
19 citations
,
July 2020 in “EBioMedicine” In this study, the researchers identified a variant in the CCHCR1 gene associated with an alopecia areata subtype characterized by impaired keratinization and autoimmune events.
6 citations
,
July 2024 in “Heliyon” This study examined the evolutionary and functional homology of steroid 5α-reductase and DET2 proteins, identifying protists as a common ancestor, and discovered a new subclass DET2-like in plants, potentially involved in polyprenol reduction.
5 citations
,
December 2024 in “Pharmaceutics” This review discusses the potential of using nanomaterial-based drug delivery systems to improve the treatment of polycystic ovary syndrome but reports no new clinical results, highlighting future research directions.
3 citations
,
May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
In this study, researchers performed a genome-wide characterization of the Wnt gene family in domestic donkeys, identifying 19 genes and highlighting their evolutionary conservation among mammals, along with tissue-specific expression patterns potentially linked to reproductive regulation and tissue homeostasis.
March 2026 in “Pigment Cell & Melanoma Research” At a workshop highlighted during the 2025 ESPCR meeting, researchers discussed the challenges and variability in culturing skin-related cells, identifying key factors such as media composition and species differences that affect experimental reproducibility, and emphasized the importance of transparent practices to advance pigment cell research.
Defective protein folding due to a mutation is key in ANE syndrome.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
19 citations
,
November 2016 in “Developmental Biology” 43 citations
,
May 1999 in “Journal of Biological Chemistry” This study found that full-length Agouti protein modulates melanocortin receptor signaling through a dual mechanism involving competitive antagonism and receptor down-regulation, whereas the carboxyl-terminal fragment acts solely as a competitive antagonist.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.
August 2019 in “Journal of Investigative Dermatology” This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
9 citations
,
July 2001 in “Cell” This review discusses historical and recent advances in understanding the embryonic organizer's role in patterning during development, including molecular pathways and future research challenges, but reports no new experimental data.
228 citations
,
September 2012 in “Trends in Neurosciences” This review examines the role of nerves in regeneration across various species and discusses their importance as components in the progenitor cell niche, reporting no new clinical results.
62 citations
,
December 2007 in “Journal of Cellular and Molecular Medicine” This article reviews the role of Kremen proteins as regulators in the Wnt/β-catenin signaling pathway, highlighting their significance in development and cancer, but reports no new clinical results.