May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
36 citations
,
October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
37 citations
,
January 1993 in “Journal of Investigative Dermatology”
1 citations
,
September 2023 in “eLife” This study found that TLR2 expression in hair follicle stem cells is crucial for hair follicle maintenance and regeneration, with TLR2-dependent activation potentially offering new therapeutic approaches for hair loss prevention through mechanisms involving immune pathways and CEP administration.
24 citations
,
August 2017 in “Prostaglandins & Other Lipid Mediators” This review discusses the potential roles of prostaglandin D2 and its receptor CRTH2 in various diseases beyond allergies and asthma and reports no new clinical results.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
2 citations
,
July 2021 in “Biochemical and Biophysical Research Communications” This study found that plantar dermis matrix homogenate can partially restore the regenerative capacity of hair follicles impaired in culture, with CTHRC1 playing a critical role in this process.
13 citations
,
June 2023 in “Frontiers in Pharmacology” This meta-analysis reports that trastuzumab deruxtecan is effective and has an acceptable safety profile for treating HER2-low or positive advanced breast cancer, although further research is recommended to support individualized treatment strategies.
150 citations
,
June 1999 in “Oncogene” 3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
36 citations
,
July 2007 in “Journal of Investigative Dermatology” This study observed a strong negative association between the HLA-DQB1*0201 allele and the alopecia totalis/alopecia universalis phenotype in Caucasian individuals, indicating a potential protective role.
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.
11 citations
,
January 2015 in “Journal of cellular physiology” This study suggests that abnormal hair cycles in Hr mutant mice may be caused by HR protein overexpression, which down-regulates miR-31 and increases Tgf-β2 expression.
155 citations
,
December 2002 in “Journal of Investigative Dermatology” This study found that thyroid-stimulating hormone receptors are functionally expressed in various skin cells, implying potential physiological and pathological roles in skin, especially in conditions like autoimmune diseases.
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.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
10 citations
,
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.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members.
76 citations
,
September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
105 citations
,
February 2010 in “Endocrinology” This study found that normal human epidermis expresses TSH and may be an indirect target of TSH signaling, with expression regulated by endocrine controls of the hypothalamic-pituitary-thyroid axis.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
126 citations
,
October 1998 in “Experimental Dermatology” This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.
November 2011 in “Journal of Investigative Dermatology” TRH in hair follicles can influence hair color by increasing melanin.
15 citations
,
May 2022 in “Journal of Investigative Dermatology” This study found that endothelial TLR2 is crucial for effective angiogenesis and timely wound healing, whereas TLR2 in hair follicle stem cells is not essential for skin regeneration.
22 citations
,
June 2010 in “Experimental Dermatology” This study reported that patients with alopecia areata have reduced expression of the melanocortin receptor MC2R in their scalp tissues compared to normal scalp, indicating potential involvement in the condition's pathophysiology.
April 2023 in “Journal of Investigative Dermatology” Trichohyalin in hair can trigger immune attacks in alopecia areata.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
9 citations
,
November 2019 in “Scientific reports” This study isolated a bioactive peptide from Trapa japonica fruit and found that it may protect human dermal papilla cells from DHT-induced stress, suggesting potential for biomedical applications.
79 citations
,
March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.