249 citations
,
April 2002 in “The FASEB journal” This study provides evidence that human skin contains genes and enzymes necessary for producing serotonin and melatonin.
245 citations
,
January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
233 citations
,
November 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This review explores androgen metabolism in the skin, highlighting enzyme localization and potential implications for treating androgen-dependent skin conditions, but it reports no new clinical results.
232 citations
,
January 2013 in “Nature Cell Biology” Understanding where cancer cells come from helps create better prevention and treatment methods.
222 citations
,
January 2005 in “Endocrine journal” This article discusses the potential role of melatonin in protecting skin against stress and maintaining homeostasis, based on its local synthesis and various protective functions, but presents no new clinical results.
218 citations
,
October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that removing PPARγ specifically from mouse adipose tissue led to severe fat loss, insulin resistance, diabetes, and associated metabolic abnormalities.
218 citations
,
December 2011 in “Advances in Urology” This review discusses the biochemical properties and clinical significance of 5 alpha-reductase isozymes and reports no new clinical results.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
197 citations
,
June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
196 citations
,
March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
196 citations
,
May 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that SZ95 sebocytes and HaCaT keratinocytes exhibit distinct enzyme expressions and activities, implicating their different roles in androgen metabolism and homeostasis in vitro.
184 citations
,
September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
181 citations
,
January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
173 citations
,
January 2014 in “Nature Cell Biology” This study found that Wnt signalling activates hair follicle fate in hair follicle stem cells by relieving TCF3/4–TLE-mediated repression, with β-catenin being crucial for this process.
165 citations
,
September 2003 in “Toxicology and applied pharmacology” This review discusses the pharmacology and toxicology of cyclooxygenase in skin, highlighting its role in inflammation, wound healing, and tumorigenesis, without presenting new clinical results.
159 citations
,
July 2006 in “Endocrine Reviews” This article discusses the influence of estrogens on hair follicle growth and metabolism, suggesting a significant role alongside androgens in hair growth control but reports no new clinical results.
157 citations
,
May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
144 citations
,
March 2013 in “Circulation Research” This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.
144 citations
,
September 2012 in “Genes & development” This study found that aging in the epidermis disrupts cytokine balance and stem cell function, which may contribute to broader tumor-suppressive mechanisms.
128 citations
,
March 2006 in “American Journal of Pathology” The study found that prolactin expressed in human scalp hair follicles acts as an autocrine modulator, inhibiting hair growth and promoting hair follicle regression, which may contribute to hair loss in hyper-prolactinemia patients.
127 citations
,
July 2002 in “EMBO journal” This study found that RXRα/RARγ heterodimers are necessary for retinoic acid-induced keratinocyte proliferation in the skin, while normal epidermal maintenance does not require RAR-mediated signaling.
125 citations
,
September 2019 in “Journal of Clinical Immunology” This review summarizes recent advances in Treg cell biology, focusing on Foxp3's role in immune regulation and therapeutic reprogramming for immune dysregulatory disorders, but reports no new clinical results.
124 citations
,
December 2016 in “Pharmaceuticals” This review discusses the functions and potential therapeutic targeting of TRP ion channels in the skin, noting their involvement in both physiological processes and various pathological conditions, but reports no new experimental results.
122 citations
,
June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
120 citations
,
February 2009 in “Apoptosis” This review examines apoptotic and anti-apoptotic mechanisms in skin homeostasis and related diseases but presents no new research findings.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
111 citations
,
January 2007 in “Seminars in cell & developmental biology” This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.
104 citations
,
May 2003 in “Endocrinology” This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.
103 citations
,
March 2011 in “PLoS Biology” This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.