10 citations
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July 2013 in “British Journal of Dermatology” High MUC-18/MCAM levels in blood indicate a worse outlook for melanoma patients.
23 citations
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March 2017 in “JAAD case reports” This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
September 2024 in “Journal of the American Academy of Dermatology” This review discusses the limited evidence on the efficacy of platelet-rich plasma for treating endocrine therapy-induced and permanent chemotherapy-induced alopecia and reports no new clinical results.
215 citations
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September 2003 in “Journal of Biological Chemistry” This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
1 citations
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June 2007 in “Journal of Clinical Oncology” This study found that weekly low-dose bicalutamide was safe and appeared to be associated with high-grade PIN remission and favorable PSA modulation in subjects with persistently elevated PSA but negative biopsy.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
15 citations
,
June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
This study found that DNA methylation may regulate the differential expression of the BMP7 gene in Hu sheep lamb skin of different patterns, and it influences the proliferation and cell cycle of dermal papilla cells, with demethylation treatment increasing BMP7 expression and cell proliferation.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.
19 citations
,
February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
28 citations
,
November 2019 in “Gene” This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.
4 citations
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November 2020 in “Journal of Investigative Dermatology Symposium Proceedings” The Brigham Eyebrow Tool for Alopecia is a simple and reliable way to measure eyebrow hair loss.
This study found that inhibiting AP-1 transcription factors in mice causes squamous tumors to transform into sebaceous tumors and regulates tumor cell lineage.
92 citations
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November 2006 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that transgenic mice overexpressing the BMP antagonist noggin showed increased hair follicle size and altered hair type, linked to changes in cell proliferation and gene expression.
January 2025 in “JCEM Case Reports” This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
1 citations
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April 2010 in “Cancer Research” In preclinical studies, a B-Raf inhibitor called WYE-130600 caused dose-related skin effects in dogs and rats, suggesting potential similar responses might occur in humans.
16 citations
,
March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
29 citations
,
January 2020 in “BioMed Research International” This study found that sinapic acid promotes the browning of 3T3-L1 adipocytes and may offer therapeutic potential for obesity by influencing mitochondrial biogenesis through the p38 MAPK/CREB signaling pathway.
87 citations
,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.
10 citations
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February 2008 in “Photochemistry and photobiology” This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.
March 2025 in “Frontiers in Plant Science” This study highlights the ZmNF-YC1-ZmAPRG pathway as a potential mechanism to improve maize tolerance to phosphorus deficiency, emphasizing its role in modulating lipid and photosynthetic activity, although direct impacts on root adaptations remain unclear (Bai et al., 2024).
April 2015 in “Journal of Nutritional Therapeutics” This study found that a more liberal intake of restricted amino acids in patients with methylmalonic acidemia resulted in improved growth and fewer illness episodes.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
Defective protein folding due to a mutation is key in ANE syndrome.
This study is designed to explore the pathogenesis of BPH and assess the effectiveness of combining finasteride and anastrozole as a treatment in rats, with a focus on genetic polymorphisms and hormone regulation.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.
131 citations
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March 2004 in “The American journal of pathology” This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.
October 2024 in “Journal of the Endocrine Society” In this case report, a 40-year-old woman with systemic lupus erythematosus developed Type B Insulin Resistance Syndrome, characterized by severe hyperglycemia despite high insulin doses, requiring immunosuppressive therapy to manage refractory symptoms.