September 2021 in “International Journal of Biomedicine” This study found that SNPs in the MVK, ARPC1B, and CA2 genes may indicate a genetic predisposition for severe acne related to steroidogenesis.
14 citations
,
October 2018 in “PloS one” In this study, Far2-/- mice were observed to develop focal alopecia with altered sebaceous gland morphology and lower skin lipid levels compared to wildtype mice.
3 citations
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July 2017 in “Journal of Investigative Dermatology” This study found that SSEA-4 is a marker that distinguishes eccrine from apocrine ductal cells in human sweat glands, suggesting its potential use in diagnostic applications.
30 citations
,
October 2020 in “Nature Communications” This study provides the first crystal structure of the human SRD5A2 enzyme, revealing key insights into its function and inhibition which may aid future drug development.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
August 2023 in “Journal of Investigative Dermatology” This study using scRNA-seq on 96 skin biopsies from 51 healthy individuals revealed distinct cell signaling pathways in different skin sites, including unique pathways in facial and palmoplantar skin, which may explain their varying susceptibilities to skin disorders.
21 citations
,
March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
53 citations
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May 1988 in “Journal of Molecular Evolution” February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
October 2021 in “Postepy Dermatologii I Alergologii” In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.
This study introduced ElixirSeeker2, a computational framework for designing anti-aging peptides, and found that some newly identified peptides significantly delayed cellular senescence and enhanced cellular and locomotor functions in aged Caenorhabditis elegans.
23 citations
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August 2017 in “Genome” This study identified several genes and signaling pathways, such as Wnt and MAPK, involved in fur development in Chinchilla rex rabbits, providing insights into skin and hair follicle growth.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.
6 citations
,
December 2021 in “PLoS Genetics” This study found that PRC2 plays a non-instructive role in adult hair follicle stem cells, with its loss not affecting quiescence or cell identity, despite upregulation of genes linked to activation.
29 citations
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October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
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.
January 2015 in “Elsevier eBooks” This chapter reviews the recent understanding of carbonic anhydrase VI's functions, including its role in biological processes, but presents no new experimental results.
37 citations
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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.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
12 citations
,
February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
14 citations
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March 2016 in “Mechanisms of Development” This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.
29 citations
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December 2004 in “Developmental biology” In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.
35 citations
,
January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.
29 citations
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January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.
63 citations
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May 2009 in “Dermato-endocrinology” This review explores the role of FGFR2b-signaling in the pathogenesis of acne, highlighting its influence on sebaceous gland physiology and the effects of anti-acne agents like isotretinoin.
January 1979 in “Lucus: Boletín informativo de la Excelentísima Diputación Provincial de Lugo” This paper discusses the molecular basis of intestinal regeneration and highlights the potential role of echinoderms in enhancing regenerative biology research, but reports no new research findings.
14 citations
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September 1999 in “Mammalian genome” In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.
47 citations
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July 2005 in “European Journal of Cell Biology” Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.