4 citations
,
December 2012 in “Human Biology” In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.
431 citations
,
October 2008 in “Current Medicinal Chemistry” This review focuses on coumarin analogs with potential antibreast cancer activities but reports no new clinical results, highlighting their mechanisms of action and structure-activity relationships.
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.
62 citations
,
January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
40 citations
,
February 2005 in “Fertility and Sterility” This study suggests that although the G972R variant of the IRS1 gene might increase AA excess risk in heterozygous carriers with CYP21 mutations, both variations play a limited role in PCOS development.
15 citations
,
December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
6 citations
,
January 2021 in “International Journal of Molecular Sciences” This study suggests that finasteride treatment in male rats can lead to changes in liver carbohydrate metabolism and may result in metabolic disruptions and liver steatosis in their offspring.
3 citations
,
February 2022 in “Frontiers in cell and developmental biology” This study found that the circular RNA circCOL1A1 influences the formation of superior-quality brush hair in white goats by regulating hair follicle stem cell behavior and interacting with the miR-149-5p/CMTM3/AR axis.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
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.
27 citations
,
June 2015 in “Journal of photochemistry and photobiology. B, Biology” This study reported that sunscreen with SPF50+ provides a high level of DNA protection against UV-induced damage in a reconstituted human epidermis model, comparable to that in skin explants.
13 citations
,
March 2017 in “Genomics” This study reported that pathways related to apoptosis, cell proliferation, and WNT signaling might be key drivers of hair loss in androgenetic alopecia, guiding potential targets for therapy development.
5 citations
,
October 2014 in “Methods” This article describes how PESCADOR software assists in creating detailed biological pathway charts from PubMed abstracts, focusing on hair and breast development case studies without providing new clinical results.
2 citations
,
March 2025 in “International Journal of Advanced Science and Engineering” This review highlights that nanoemulsions, especially those with droplet sizes under 200 nm, show promise in pharmaceuticals and cosmetics by improving drug stability, bioavailability, and reducing side effects, with potential applications in CNS diseases, cancer treatments, and skincare products.
October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study constructed a comprehensive atlas of prenatal human skin, revealing that innate immune cells, such as macrophages, play a crucial role in skin morphogenesis by interacting with non-immune cells, influencing hair follicle formation and angiogenesis beyond their traditional immune functions.
8 citations
,
September 2022 in “Biointerface Research in Applied Chemistry” This review examines the pharmacological potential of quinoline alkaloids from Cinchona bark for developing new drugs and cosmetics but reports no new findings.
10 citations
,
June 2001 in “International Journal of Cosmetic Science” This study found that laboratory-formulated natural shampoos condition hair better than commercial herbal shampoos, as shown by SEM micrograph analysis of hair microstructure.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
17 citations
,
June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.
2 citations
,
June 2000 in “Journal of The American Academy of Dermatology” In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
75 citations
,
June 2019 in “International Journal of Molecular Sciences” This review discusses the therapeutic potential of costunolide for various diseases, highlighting its bioactivity and mechanisms, but it reports no new experimental results.
14 citations
,
March 2017 in “Brain research” This study suggests that ovarian cycle-related progesterone and neurosteroids regulate α2-subunit expression of GABA-A receptors in the hippocampus through a pathway independent of progesterone receptors, potentially affecting brain conditions linked to the menstrual cycle.
68 citations
,
September 2018 in “Trends in Cell Biology” This review discusses the senescence–stemness connection in cellular biology and reports no new findings, highlighting implications for both tissue repair and aggressive cancer behavior.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
10 citations
,
September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.