42 citations
,
July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
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.
22 citations
,
October 2004 in “Journal of Investigative Dermatology” This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.
8 citations
,
September 1987 in “Acta Dermato Venereologica” In this study, the researchers used structural studies and molecular calculations to suggest that the enzyme in RXLI patient hair follicles is less efficient, rather than completely inactive.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
29 citations
,
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.
3 citations
,
August 2023 in “Drug safety” This source reports that trastuzumab deruxtecan improves outcomes in HER2-positive and HER2-low metastatic breast cancer, emphasizing the need for careful adverse event monitoring, particularly for interstitial lung disease, and managing emetic risk to maximize benefits.
3 citations
,
August 2010 in “Letters in Drug Design & Discovery” 56 citations
,
November 2007 in “Molecular and cellular endocrinology” This study identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.
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.
22 citations
,
April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
17 citations
,
April 2023 in “Cell Biology International” This review examines the role of red cell distribution width and its association with iron metabolism and other factors in diagnosing and monitoring various anemic and non-anemic conditions, reporting no new clinical findings.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
January 2024 in “Ankara City Hospital Medical Journal” This case report details a 42-year-old woman with Rhupus, a rare overlap syndrome of rheumatoid arthritis and systemic lupus erythematosus, emphasizing diagnostic challenges due to non-specific clinical criteria and documenting symptoms like inflammatory arthritis, malar rash, and hematological abnormalities.
September 2026 in “Animals” This study found that Rex rabbits had significantly shorter fibre length and thinner fur compared to New Zealand White rabbits, and identified a gene-metabolite network that may influence fur quality and development.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
18 citations
,
February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
This study investigated dual TCR Treg cells in mouse tissues, revealing a high proportion and diverse pairing patterns compared to single TCR Tregs, providing insights into their origins and characteristics across different tissue locations.
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.
23 citations
,
January 2018 in “Biological and Pharmaceutical Bulletin” In this study, YK11 was found to promote osteoblast cell proliferation and differentiation through activation of non-genomic signaling pathways in mouse osteoblast cells.
34 citations
,
January 2016 in “Analytical Chemistry” This study reports that a new DART-HRMS method can effectively analyze intact hair for drug use timelines, with cocaine detection aligning with forensic standards and identifying multiple drugs from high-resolution data.
1 citations
,
January 2020 in “Research Square (Research Square)” This study found that inherited color dilution in Rex rabbit hair follicles is associated with DNA methylation changes, contributing to understanding the epigenetic regulation of rabbit pigmentation.
12 citations
,
September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” This study suggests that the DORN1 receptor may play a role in eATP-induced changes in stomatal aperture in Arabidopsis thaliana, but not in the eADP signaling pathway.
12 citations
,
January 2013 in “Indian dermatology online journal” This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.
36 citations
,
March 2014 in “Annals of the Rheumatic Diseases” This study found that activating liver X receptors with an agonist reduced skin fibrosis in experimental models, particularly in inflammation-driven conditions, by inhibiting macrophage infiltration and interleukin-6 release.
July 1989 in “British Journal of Dermatology” Long-term use of canthaxanthin may cause reversible changes in the eye, including crystal deposits and altered vision responses.
May 2026 in “ACS Catalysis” In this study, researchers using QM/MM simulations identified key molecular motions and residue interactions in the enzyme SRD5A2 that significantly influence its catalytic efficiency, demonstrating that specific residues play critical roles in stabilizing transition states and reducing activation barriers.
April 2012 in “Development” This study found that Rac1 activity in specific skin compartments is sufficient for hair formation, but results in hair with altered structure and pigmentation compared to normal.
11 citations
,
February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” This study reports that treatment with X-rays or procarbazine induced dose-dependent mutations in melanocytes in mouse hair follicles, showing similar mutation rates to previous methods.